#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DDX60	55601	broad.mit.edu	37	4	169201591	169201591	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:169201591C>A	ENST00000393743.3	-	14	2164	c.1873G>T	c.(1873-1875)Gat>Tat	p.D625Y		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	625					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCAAAAAATCTTCCAGGCTC	0.383																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1873-1875)Gat>Tat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							72.0	74.0	73.0					4																	169201591		2202	4300	6502	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169201591C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1873G>T	4.37:g.169201591C>A	ENSP00000377344:p.Asp625Tyr						p.D625Y	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	14	2164	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	625					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1873G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652042	0.29336	.	.	ENSG00000137628	ENST00000393743	T	0.19105	2.17	5.48	3.74	0.42951	.	0.385033	0.25663	N	0.029131	T	0.38214	0.1032	M	0.66939	2.045	0.28679	N	0.905184	D	0.76494	0.999	D	0.65443	0.935	T	0.18935	-1.0321	10	0.87932	D	0	.	7.8757	0.29592	0.0:0.698:0.0:0.3019	.	625	Q8IY21	DDX60_HUMAN	Y	625	ENSP00000377344:D625Y	ENSP00000377344:D625Y	D	-	1	0	DDX60	169438166	0.771000	0.28555	0.999000	0.59377	0.066000	0.16364	0.227000	0.17795	1.321000	0.45227	0.563000	0.77884	GAT		0.383	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		5	34	1	0	0.0215528	1	0.0230314	5	34				
VIL1	7429	broad.mit.edu	37	2	219294366	219294366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:219294366C>T	ENST00000248444.5	+	8	905	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	VIL1_ENST00000440053.1_Missense_Mutation_p.R273W|VIL1_ENST00000392114.2_5'UTR	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	273	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCGCCACACGGCCACTGAC	0.602																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(817-819)Cgg>Tgg		villin 1							77.0	78.0	78.0					2																	219294366		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219294366C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.817C>T	2.37:g.219294366C>T	ENSP00000248444:p.Arg273Trp					VIL1_ENST00000440053.1_Missense_Mutation_p.R273W|VIL1_ENST00000392114.2_5'UTR	p.R273W	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	905	+		Renal(207;0.0474)	273			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.817C>T	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692028	0.30052	.	.	ENSG00000127831	ENST00000248444;ENST00000440053	T;T	0.55413	0.52;0.52	4.7	0.612	0.17591	Gelsolin domain (1);	0.868863	0.09983	N	0.730759	T	0.65439	0.2691	M	0.74647	2.275	0.19300	N	0.99997	D;D	0.89917	1.0;0.997	D;D	0.65140	0.932;0.927	T	0.51973	-0.8637	10	0.72032	D	0.01	-14.597	5.109	0.14800	0.4353:0.4081:0.0:0.1566	.	273;273	Q96AC8;P09327	.;VILI_HUMAN	W	273	ENSP00000248444:R273W;ENSP00000409270:R273W	ENSP00000248444:R273W	R	+	1	2	VIL1	219002610	0.000000	0.05858	0.021000	0.16686	0.053000	0.15095	0.239000	0.18023	-0.067000	0.12976	-0.258000	0.10820	CGG		0.602	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		5	47	0	0	0	1	0	5	47				
ZNF512B	57473	broad.mit.edu	37	20	62598849	62598849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:62598849G>A	ENST00000450537.1	-	3	209	c.149C>T	c.(148-150)aCa>aTa	p.T50I	ZNF512B_ENST00000217130.3_Missense_Mutation_p.T50I|ZNF512B_ENST00000369888.1_Missense_Mutation_p.T50I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCGGGCACTGTCTGTCCACC	0.637																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(148-150)aCa>aTa		zinc finger protein 512B							91.0	96.0	94.0					20																	62598849		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598849G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.149C>T	20.37:g.62598849G>A	ENSP00000393795:p.Thr50Ile					ZNF512B_ENST00000217130.3_Missense_Mutation_p.T50I|ZNF512B_ENST00000369888.1_Missense_Mutation_p.T50I	p.T50I			Q96KM6	Z512B_HUMAN			3	209	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		50					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.149C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146975	0.57151	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24350	1.86;1.86;1.86	3.86	1.91	0.25777	.	0.905968	0.09421	N	0.804411	T	0.13841	0.0335	N	0.19112	0.55	0.25326	N	0.989077	B	0.30068	0.267	B	0.21708	0.036	T	0.25847	-1.0120	10	0.87932	D	0	-3.8043	3.219	0.06708	0.29:0.0:0.5205:0.1895	.	50	Q96KM6	Z512B_HUMAN	I	50	ENSP00000358904:T50I;ENSP00000393795:T50I;ENSP00000217130:T50I	ENSP00000217130:T50I	T	-	2	0	ZNF512B	62069293	0.836000	0.29430	0.874000	0.34290	0.876000	0.50452	2.205000	0.42770	0.603000	0.29913	0.462000	0.41574	ACA		0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		15	64	0	0	0	1	0	15	64				
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	rs373153121		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179463526C>T	ENST00000591111.1	-	241	52212	c.51988G>A	c.(51988-51990)Gtg>Atg	p.V17330M	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000589042.1_Missense_Mutation_p.V18971M|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M			Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 25. {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)			GCTGGACCCACGCCAGCAGCA	0.428																																						ENST00000589042.1																			0				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						c.(56911-56913)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,3760		0,0,1880	151.0	150.0	151.0		29716,49207,30091,30292	5.2	1.0	2		151	2,8190		0,2,4094	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,2,5974	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	9906/26927,16403/33424,10031/27052,10098/27119	179463526	2,11950	1880	4096	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463526C>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.51988G>A	2.37:g.179463526C>T	ENSP00000465570:p.Val17330Met					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000589234.1_RNA	p.V18971M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	57135	-			17330			Fibronectin type-III 37.		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.56911G>A		.	.	.	.	.	.	.	.	.	.	C	12.41	1.929785	0.34096	0.0	2.44E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62097	0.2400	L	0.35593	1.075	0.43719	D	0.996196	P;P;P;D	0.89917	0.841;0.841;0.841;1.0	B;B;P;D	0.67382	0.408;0.408;0.572;0.951	T	0.66436	-0.5924	9	0.87932	D	0	.	15.6409	0.77001	0.0:0.9338:0.0:0.0662	.	9906;10031;10098;17330	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16403;9906;10098;10031;9904	ENSP00000343764:V16403M;ENSP00000434586:V9906M;ENSP00000340554:V10098M;ENSP00000352154:V10031M	ENSP00000340554:V10098M	V	-	1	0	TTN	179171771	0.996000	0.38824	1.000000	0.80357	0.927000	0.56198	2.547000	0.45786	1.547000	0.49401	0.650000	0.86243	GTG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	120	0	0	0	1	0	9	120				
PSG7	5676	broad.mit.edu	37	19	43428834	43428834	+	RNA	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:43428834A>T	ENST00000406070.2	-	0	1482				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				gacatcaggtacaaggatttt	0.423																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43428834A>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43428834A>T								NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1482	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.423	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		4	21	0	0	0	1	0	4	21				
LBH	81606	broad.mit.edu	37	2	30480389	30480389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:30480389G>A	ENST00000395323.3	+	3	428	c.220G>A	c.(220-222)Gag>Aag	p.E74K	LBH_ENST00000407930.2_Missense_Mutation_p.E57K|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.E80K|LBH_ENST00000404397.1_Intron|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	74					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					AGGGGAGGTGGAGAGCGGGGA	0.547																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(220-222)Gag>Aag		limb bud and heart development							55.0	61.0	59.0					2																	30480389		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480389G>A	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.220G>A	2.37:g.30480389G>A	ENSP00000378733:p.Glu74Lys					LBH_ENST00000401506.1_Missense_Mutation_p.E80K|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.E57K	p.E74K	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			3	428	+	Acute lymphoblastic leukemia(172;0.155)		74					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.220G>A	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411453	0.96072	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.78355	0.4270	M	0.71036	2.16	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.81581	-0.0867	9	0.87932	D	0	-26.3261	16.8734	0.86045	0.0:0.0:1.0:0.0	.	74	Q53QV2	LBH_HUMAN	K	74;80;57	.	ENSP00000378733:E74K	E	+	1	0	LBH	30333893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.462000	0.97649	2.220000	0.72140	0.561000	0.74099	GAG		0.547	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		8	38	0	0	0	1	0	8	38				
SMARCB1	6598	broad.mit.edu	37	22	24145545	24145545	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:24145545C>T	ENST00000263121.7	+	5	760	c.564C>T	c.(562-564)ccC>ccT	p.P188P	SMARCB1_ENST00000407082.3_Silent_p.P142P|SMARCB1_ENST00000407422.3_Silent_p.P179P|SMARCB1_ENST00000344921.6_Silent_p.P197P	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	188	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(6)|p.I189fs*25(1)|p.P188fs*24(1)|p.V185_M193del(1)|p.I189fs*24(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TGCTGGTCCCCATCCGGCTGG	0.587			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""D, N, F, S"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid		10	Unknown(3)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Deletion - In frame(1)	p.?(6)|p.I189fs*25(1)|p.P188fs*24(1)|p.V185_M193del(1)|p.I189fs*24(1)	soft_tissue(6)|central_nervous_system(4)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(589-591)ccC>ccT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							113.0	102.0	106.0					22																	24145545		2203	4300	6503	SO:0001819	synonymous_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24145545C>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.564C>T	22.37:g.24145545C>T						SMARCB1_ENST00000407422.3_Silent_p.P179P|SMARCB1_ENST00000263121.7_Silent_p.P188P|SMARCB1_ENST00000407082.3_Silent_p.P142P	p.P197P			Q12824	SNF5_HUMAN			5	798	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	188			2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	c.591C>T	CCDS13817.1																																																																																				0.587	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		6	73	0	0	0	1	0	6	73				
GPR171	29909	broad.mit.edu	37	3	150916865	150916865	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:150916865G>T	ENST00000309180.5	-	3	539	c.309C>A	c.(307-309)atC>atA	p.I103I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	103					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCTAAGAAGATAATTGATA	0.418																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(307-309)atC>atA		G protein-coupled receptor 171							69.0	68.0	69.0					3																	150916865		2203	4300	6503	SO:0001819	synonymous_variant	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150916865G>T	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.309C>A	3.37:g.150916865G>T						MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.I103I	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	539	-			103					D3DNJ4|Q8IV06	Silent	SNP	ENST00000309180.5	37	c.309C>A	CCDS3155.1																																																																																				0.418	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		7	78	1	0	0.00198382	1	0.00230193	7	78				
C12orf77	196415	broad.mit.edu	37	12	25148769	25148769	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:25148769A>G	ENST00000549828.1	-	3	583	c.379T>C	c.(379-381)Tgg>Cgg	p.W127R	C12orf77_ENST00000434912.3_Missense_Mutation_p.W72R|C12orf77_ENST00000549262.1_Missense_Mutation_p.W72R	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	127										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGAATCTCCATCTTGGGTTT	0.413																																						ENST00000549828.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(379-381)Tgg>Cgg		chromosome 12 open reading frame 77							52.0	52.0	52.0					12																	25148769		1831	4078	5909	SO:0001583	missense	196415							g.chr12:25148769A>G	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.379T>C	12.37:g.25148769A>G	ENSP00000447146:p.Trp127Arg					C12orf77_ENST00000549262.1_Missense_Mutation_p.W72R|C12orf77_ENST00000434912.3_Missense_Mutation_p.W72R	p.W127R	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN			3	583	-			127						Missense_Mutation	SNP	ENST00000549828.1	37	c.379T>C	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	A	1.936	-0.444659	0.04604	.	.	ENSG00000226397	ENST00000549828;ENST00000549262;ENST00000434912	T;T;T	0.58210	0.44;0.35;0.35	2.87	-0.79	0.10932	.	.	.	.	.	T	0.25754	0.0627	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.31614	0.133	T	0.13335	-1.0513	9	0.87932	D	0	.	5.6903	0.17825	0.5874:0.0:0.4126:0.0	.	127	C9JDV5	CL097_HUMAN	R	127;72;72	ENSP00000447146:W127R;ENSP00000447028:W72R;ENSP00000403451:W72R	ENSP00000403451:W72R	W	-	1	0	C12orf77	25040036	0.003000	0.15002	0.012000	0.15200	0.048000	0.14542	-0.097000	0.11042	-0.163000	0.10946	0.533000	0.62120	TGG		0.413	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		5	39	0	0	0	1	0	5	39				
SULT1B1	27284	broad.mit.edu	37	4	70620441	70620441	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:70620441A>T	ENST00000310613.3	-	3	521	c.224T>A	c.(223-225)aTt>aAt	p.I75N		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	75					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTTTTCAGTAATAAAACCTCG	0.308																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(223-225)aTt>aAt		sulfotransferase family, cytosolic, 1B, member 1							101.0	109.0	106.0					4																	70620441		2203	4298	6501	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620441A>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.224T>A	4.37:g.70620441A>T	ENSP00000308770:p.Ile75Asn						p.I75N	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			3	521	-			75					O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.224T>A	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.164800	0.38217	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	D;D;D	0.83419	-1.72;-1.72;-1.72	5.13	5.13	0.70059	Sulfotransferase domain (1);	0.111151	0.39834	N	0.001258	D	0.86736	0.6004	M	0.73962	2.25	0.47511	D	0.999442	D	0.57257	0.979	P	0.52514	0.701	D	0.87350	0.2337	10	0.48119	T	0.1	.	13.1779	0.59637	1.0:0.0:0.0:0.0	.	75	O43704	ST1B1_HUMAN	N	75;75;56	ENSP00000308770:I75N;ENSP00000425464:I75N;ENSP00000427536:I56N	ENSP00000308770:I75N	I	-	2	0	SULT1B1	70655030	0.987000	0.35691	0.080000	0.20451	0.008000	0.06430	3.257000	0.51500	2.076000	0.62316	0.477000	0.44152	ATT		0.308	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		8	56	0	0	0	1	0	8	56				
GRK7	131890	broad.mit.edu	37	3	141497567	141497567	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:141497567G>A	ENST00000264952.2	+	1	578	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	147	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGCTGCAGTGACGCTGGCCA	0.607																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(439-441)gtG>gtA		G protein-coupled receptor kinase 7							42.0	44.0	43.0					3																	141497567		2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497567G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.441G>A	3.37:g.141497567G>A							p.V147V	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	578	+			147			RGS.			Silent	SNP	ENST00000264952.2	37	c.441G>A	CCDS3120.1																																																																																				0.607	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		4	62	0	0	0	1	0	4	62				
MYO1G	64005	broad.mit.edu	37	7	45014784	45014784	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:45014784C>G	ENST00000258787.7	-	5	743	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	203	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGGTAGAAGGCGTGGAAGTTT	0.592																																						ENST00000258787.7																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(607-609)Gcc>Ccc		myosin IG							235.0	226.0	229.0					7																	45014784		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45014784C>G	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.607G>C	7.37:g.45014784C>G	ENSP00000258787:p.Ala203Pro						p.A203P	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN			5	743	-			203			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.607G>C	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605781	0.66445	.	.	ENSG00000136286	ENST00000258787	D	0.87334	-2.24	4.7	0.951	0.19579	Myosin head, motor domain (2);	0.849335	0.09830	N	0.750339	D	0.83575	0.5284	L	0.42245	1.32	0.36608	D	0.875036	P;P	0.45634	0.863;0.723	P;P	0.48304	0.573;0.465	T	0.79581	-0.1744	10	0.48119	T	0.1	.	4.1097	0.10053	0.4394:0.3536:0.0:0.2071	.	203;203	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	P	203	ENSP00000258787:A203P	ENSP00000258787:A203P	A	-	1	0	MYO1G	44981309	1.000000	0.71417	0.100000	0.21137	0.981000	0.71138	2.518000	0.45537	0.457000	0.26962	0.655000	0.94253	GCC		0.592	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			15	131	0	0	0	1	0	15	131				
OR52N5	390075	broad.mit.edu	37	11	5799487	5799487	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5799487G>A	ENST00000317093.2	-	1	410	c.378C>T	c.(376-378)ctC>ctT	p.L126L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	126						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(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTAGAGCCATGAGCATGAGCA	0.488																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(376-378)ctC>ctT		olfactory receptor, family 52, subfamily N, member 5							115.0	97.0	103.0					11																	5799487		2121	4083	6204	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799487G>A	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.378C>T	11.37:g.5799487G>A						TRIM5_ENST00000380027.1_Intron	p.L126L	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	410	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	126					B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.378C>T	CCDS31397.1																																																																																				0.488	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		10	23	0	0	0	1	0	10	23				
ZC3H13	23091	broad.mit.edu	37	13	46562943	46562943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:46562943G>A	ENST00000242848.4	-	9	1582	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R412*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	412	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATGGCGTCGATCATGAGAC	0.423																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1234-1236)Cga>Tga		zinc finger CCCH-type containing 13							142.0	121.0	128.0					13																	46562943		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46562943G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1234C>T	13.37:g.46562943G>A	ENSP00000242848:p.Arg412*					ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R412*	p.R412*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1582	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.1234C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.570055	0.98868	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.81	4.94	0.65067	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6495	0.62301	0.0:0.0:0.6004:0.3995	.	.	.	.	X	412;412;228	.	ENSP00000242848:R412X	R	-	1	2	ZC3H13	45460944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.591000	0.46163	1.379000	0.46325	0.655000	0.94253	CGA		0.423	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	27	0	0	0	1	0	4	27				
PI4KA	5297	broad.mit.edu	37	22	21156362	21156362	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:21156362G>A	ENST00000572273.1	-	14	1679	c.1449C>T	c.(1447-1449)acC>acT	p.T483T	PI4KA_ENST00000255882.6_Silent_p.T541T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	483					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AATGCTCATTGGTCACACTGA	0.418																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(1621-1623)acC>acT		phosphatidylinositol 4-kinase, catalytic, alpha							107.0	86.0	93.0					22																	21156362		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21156362G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1449C>T	22.37:g.21156362G>A						PI4KA_ENST00000572273.1_Silent_p.T483T	p.T541T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		14	1709	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	483					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.1623C>T																																																																																					0.418	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		5	36	0	0	0	1	0	5	36				
SCN3A	6328	broad.mit.edu	37	2	165997189	165997189	+	Missense_Mutation	SNP	G	G	T	rs201168906		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:165997189G>T	ENST00000360093.3	-	13	2482	c.1991C>A	c.(1990-1992)aCg>aAg	p.T664K	SCN3A_ENST00000283254.7_Missense_Mutation_p.T664K|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	664					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGTAGGTGACGTTAGAGCTGA	0.478																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1990-1992)aCg>aAg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						145.0	128.0	133.0					2																	165997189		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997189G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1991C>A	2.37:g.165997189G>T	ENSP00000353206:p.Thr664Lys					SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.T664K	p.T664K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			13	2482	-			664					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1991C>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.941960	0.73557	.	.	ENSG00000153253	ENST00000360093;ENST00000283254	D;D	0.90900	-2.75;-2.75	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000006	D	0.91536	0.7327	M	0.81497	2.545	0.80722	D	1	P	0.42123	0.771	B	0.40901	0.343	D	0.89143	0.3518	10	0.19147	T	0.46	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	664	Q9NY46-3	.	K	664	ENSP00000353206:T664K;ENSP00000283254:T664K	ENSP00000283254:T664K	T	-	2	0	SCN3A	165705435	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.292000	0.72725	2.885000	0.99019	0.655000	0.94253	ACG		0.478	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	35	1	0	0.0293803	1	0.0312145	6	35				
YOD1	55432	broad.mit.edu	37	1	207222688	207222688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:207222688G>C	ENST00000315927.4	-	2	770	c.724C>G	c.(724-726)Cag>Gag	p.Q242E	PFKFB2_ENST00000411990.2_5'Flank|YOD1_ENST00000391927.1_Missense_Mutation_p.Q198E|YOD1_ENST00000367084.1_Missense_Mutation_p.Q198E	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	242	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTTACTGTCTGTGTATCCACT	0.403																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(592-594)Cag>Gag		YOD1 deubiquitinase							179.0	176.0	177.0					1																	207222688		2203	4300	6503	SO:0001583	missense	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222688G>C		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.724C>G	1.37:g.207222688G>C	ENSP00000326813:p.Gln242Glu					YOD1_ENST00000315927.4_Missense_Mutation_p.Q242E|YOD1_ENST00000391927.1_Missense_Mutation_p.Q198E	p.Q198E	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	796	-	Prostate(682;0.19)		242			OTU.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	c.592C>G	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655675	0.67586	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	T;T;T	0.28454	1.61;1.61;1.61	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.051012	0.85682	D	0.000000	T	0.41834	0.1176	N	0.25245	0.725	0.80722	D	1	P;D	0.69078	0.687;0.997	B;D	0.79108	0.301;0.992	T	0.07501	-1.0769	10	0.15066	T	0.55	-18.1388	19.4269	0.94746	0.0:0.0:1.0:0.0	.	198;242	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	E	198;242;198	ENSP00000356051:Q198E;ENSP00000326813:Q242E;ENSP00000375793:Q198E	ENSP00000326813:Q242E	Q	-	1	0	YOD1	205289311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.653000	0.98506	2.836000	0.97738	0.655000	0.94253	CAG		0.403	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		16	127	0	0	0	1	0	16	127				
LRRC14	9684	broad.mit.edu	37	8	145742149	145742149	+	5'Flank	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:145742149C>G	ENST00000292524.1	+	0	0				RECQL4_ENST00000428558.2_Splice_Site|RECQL4_ENST00000532237.1_Splice_Site|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGTCCGGCCTGGGAGGGGA	0.602																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.e5-1	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							28.0	31.0	30.0					8																	145742149		1936	4134	6070	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742149C>G	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742149C>G	Exception_encountered					RECQL4_ENST00000532237.1_Splice_Site		NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		5	396	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							A8K0A8|D3DWM8	Splice_Site	SNP	ENST00000292524.1	37		CCDS6432.1																																																																																				0.602	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		7	18	0	0	0	1	0	7	18				
BAI3	577	broad.mit.edu	37	6	70049224	70049224	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:70049224G>T	ENST00000370598.1	+	26	4108		c.e26-1		BAI3_ENST00000238918.8_Splice_Site|BAI3_ENST00000546190.1_Splice_Site	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCTCAACAGGGCGTCTCTT	0.478																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.e26-1		brain-specific angiogenesis inhibitor 3							263.0	244.0	251.0					6																	70049224		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049224G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3288-1G>T	6.37:g.70049224G>T						BAI3_ENST00000238918.8_Splice_Site|BAI3_ENST00000546190.1_Splice_Site		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			26	4108	+		all_lung(197;0.212)						B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37		CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299436	0.60195	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI3	70105945	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	9.869000	0.99810	2.708000	0.92522	0.650000	0.86243	.		0.478	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Intron	9	92	1	0	2.17888e-05	1	2.95337e-05	9	92				
RP1	6101	broad.mit.edu	37	8	55539512	55539512	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:55539512T>A	ENST00000220676.1	+	4	3218	c.3070T>A	c.(3070-3072)Tgt>Agt	p.C1024S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1024					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCATGAACACTGTACTTTGTC	0.368																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3070-3072)Tgt>Agt		retinitis pigmentosa 1 (autosomal dominant)							201.0	217.0	211.0					8																	55539512		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539512T>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3070T>A	8.37:g.55539512T>A	ENSP00000220676:p.Cys1024Ser						p.C1024S	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3218	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1024						Missense_Mutation	SNP	ENST00000220676.1	37	c.3070T>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	5.383	0.255893	0.10185	.	.	ENSG00000104237	ENST00000220676	T	0.20881	2.04	5.38	-10.8	0.00216	.	1.604790	0.03112	N	0.162555	T	0.13243	0.0321	L	0.43923	1.385	0.09310	N	1	B	0.29716	0.255	B	0.24394	0.053	T	0.09465	-1.0673	10	0.48119	T	0.1	.	5.4	0.16291	0.1353:0.294:0.448:0.1227	.	1024	P56715	RP1_HUMAN	S	1024	ENSP00000220676:C1024S	ENSP00000220676:C1024S	C	+	1	0	RP1	55702065	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.076000	0.03420	-2.095000	0.00853	-1.106000	0.02097	TGT		0.368	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		23	169	0	0	0	1	0	23	169				
VWF	7450	broad.mit.edu	37	12	6125388	6125388	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:6125388C>A	ENST00000261405.5	-	31	5576	c.5322G>T	c.(5320-5322)ttG>ttT	p.L1774F		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1774	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCAAAGCCCAAGGCATCCC	0.542																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5320-5322)ttG>ttT		von Willebrand factor	Antihemophilic Factor(DB00025)						75.0	67.0	70.0					12																	6125388		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125388C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5322G>T	12.37:g.6125388C>A	ENSP00000261405:p.Leu1774Phe						p.L1774F	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			31	5576	-			1774			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5322G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	11.11	1.541430	0.27563	.	.	ENSG00000110799	ENST00000261405	D	0.88046	-2.33	4.58	3.69	0.42338	von Willebrand factor, type A (3);	0.000000	0.35407	N	0.003229	D	0.92854	0.7727	M	0.88704	2.975	0.27473	N	0.952813	D	0.76494	0.999	D	0.72982	0.979	D	0.86309	0.1685	10	0.72032	D	0.01	.	7.5194	0.27618	0.1646:0.7461:0.0:0.0893	.	1774	P04275	VWF_HUMAN	F	1774	ENSP00000261405:L1774F	ENSP00000261405:L1774F	L	-	3	2	VWF	5995649	0.851000	0.29673	0.302000	0.25058	0.014000	0.08584	1.622000	0.36997	1.152000	0.42452	-0.266000	0.10368	TTG		0.542	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		5	25	1	0	0.014758	1	0.0159185	5	25				
PABPC3	5042	broad.mit.edu	37	13	25670479	25670479	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25670479C>G	ENST00000281589.3	+	1	180	c.143C>G	c.(142-144)aCc>aGc	p.T48S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	48	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GACTTGATCACCAGCGGCTCC	0.572																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(142-144)aCc>aGc		poly(A) binding protein, cytoplasmic 3							83.0	81.0	82.0					13																	25670479		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670479C>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.143C>G	13.37:g.25670479C>G	ENSP00000281589:p.Thr48Ser						p.T48S	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	180	+		Lung SC(185;0.0225)|Breast(139;0.0602)	48			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.143C>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792343	0.50102	.	.	ENSG00000151846	ENST00000281589	T	0.21543	2.0	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.162163	0.25789	U	0.028288	T	0.21347	0.0514	L	0.53729	1.69	0.42253	D	0.991989	P	0.35033	0.481	B	0.41619	0.361	T	0.04400	-1.0954	10	0.49607	T	0.09	.	6.848	0.23998	0.0:0.9999:0.0:1.0E-4	.	48	Q9H361	PABP3_HUMAN	S	48	ENSP00000281589:T48S	ENSP00000281589:T48S	T	+	2	0	PABPC3	24568479	1.000000	0.71417	0.115000	0.21578	0.021000	0.10359	5.262000	0.65501	0.558000	0.29135	0.305000	0.20034	ACC		0.572	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		5	49	0	0	0	1	0	5	49				
NLRP13	126204	broad.mit.edu	37	19	56423073	56423073	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56423073C>A	ENST00000342929.3	-	5	2109	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	NLRP13_ENST00000588751.1_Splice_Site_p.E704*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	704							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)		AATACTCACTCCAGAATTTCC	0.393																																						ENST00000588751.1																			0				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						c.e5+1		NLR family, pyrin domain containing 13							76.0	85.0	82.0					19																	56423073		2203	4300	6503	SO:0001630	splice_region_variant	126204						ATP binding	g.chr19:56423073C>A	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.2111+1G>T	19.37:g.56423073C>A						NLRP13_ENST00000342929.3_Splice_Site_p.E704_splice	p.E704_splice			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	2134	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	704					Q7RTR5	Splice_Site	SNP	ENST00000342929.3	37	c.2111_splice	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449094	0.96205	.	.	ENSG00000173572	ENST00000342929	.	.	.	1.81	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	7.128	0.25484	0.0:1.0:0.0:0.0	.	.	.	.	X	704	.	ENSP00000343891:E704X	E	-	1	0	NLRP13	61114885	0.003000	0.15002	0.314000	0.25224	0.455000	0.32408	0.176000	0.16782	1.355000	0.45865	0.543000	0.68304	GAG		0.393	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	Nonsense_Mutation	11	66	1	0	9.31168e-06	1	1.29658e-05	11	66				
MEFV	4210	broad.mit.edu	37	16	3304456	3304456	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:3304456G>T	ENST00000219596.1	-	2	651	c.612C>A	c.(610-612)cgC>cgA	p.R204R	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	204					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TGGCGTTTCTGCGCAGCCGGA	0.761																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(610-612)cgC>cgA		Mediterranean fever	Colchicine(DB01394)						10.0	13.0	12.0					16																	3304456		2159	4215	6374	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304456G>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.612C>A	16.37:g.3304456G>T						MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	p.R204R	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			2	651	-			204					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.612C>A	CCDS10498.1																																																																																				0.761	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	19	1	0	0.00909568	1	0.00998677	4	19				
ARHGAP17	55114	broad.mit.edu	37	16	24942604	24942604	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:24942604G>T	ENST00000289968.6	-	19	2085	c.2016C>A	c.(2014-2016)acC>acA	p.T672T	ARHGAP17_ENST00000303665.5_Silent_p.T594T|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	672	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGGGGCTTCGGGTGGGTGGCT	0.677																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2014-2016)acC>acA		Rho GTPase activating protein 17							47.0	58.0	54.0					16																	24942604		2196	4300	6496	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942604G>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2016C>A	16.37:g.24942604G>T						ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.T594T	p.T672T	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2085	-			672			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.2016C>A	CCDS32409.1																																																																																				0.677	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		11	67	1	0	9.70103e-10	1	1.58072e-09	11	67				
GDF6	392255	broad.mit.edu	37	8	97172817	97172817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:97172817G>A	ENST00000287020.5	-	1	203	c.104C>T	c.(103-105)gCc>gTc	p.A35V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	35					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ACCCAGCTCGGCGGACGACGA	0.642																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(103-105)gCc>gTc		growth differentiation factor 6							51.0	58.0	56.0					8																	97172817		2202	4300	6502	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97172817G>A		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.104C>T	8.37:g.97172817G>A	ENSP00000287020:p.Ala35Val						p.A35V	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			1	203	-	Breast(36;2.67e-05)		35					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.104C>T	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658815	0.67586	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.81078	-1.45	4.34	4.34	0.51931	.	2.904850	0.01680	U	0.026114	T	0.70281	0.3206	N	0.08118	0	0.26967	N	0.965675	B	0.23377	0.084	B	0.24155	0.051	T	0.56715	-0.7933	10	0.30854	T	0.27	.	13.7515	0.62910	0.0:0.0:1.0:0.0	.	35	Q6KF10	GDF6_HUMAN	V	35	ENSP00000287020:A35V	ENSP00000287020:A35V	A	-	2	0	GDF6	97241993	0.986000	0.35501	0.595000	0.28798	0.876000	0.50452	4.402000	0.59722	1.947000	0.56498	0.514000	0.50259	GCC		0.642	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		5	66	0	0	0	1	0	5	66				
LDB3	11155	broad.mit.edu	37	10	88477873	88477873	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:88477873G>T	ENST00000361373.4	+	10	1850	c.1829G>T	c.(1828-1830)tGt>tTt	p.C610F	LDB3_ENST00000263066.6_Missense_Mutation_p.C500F|LDB3_ENST00000429277.2_Missense_Mutation_p.C615F|LDB3_ENST00000352360.5_Missense_Mutation_p.C353F|LDB3_ENST00000458213.2_Missense_Mutation_p.C500F	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCCCGCTGTGTGCCAAGTGC	0.522																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1843-1845)tGt>tTt		LIM domain binding 3							143.0	131.0	135.0					10																	88477873		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88477873G>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1829G>T	10.37:g.88477873G>T	ENSP00000355296:p.Cys610Phe					LDB3_ENST00000263066.6_Missense_Mutation_p.C500F|LDB3_ENST00000361373.4_Missense_Mutation_p.C610F|LDB3_ENST00000352360.5_Missense_Mutation_p.C353F|LDB3_ENST00000458213.2_Missense_Mutation_p.C500F	p.C615F	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			11	1989	+			610			LIM zinc-binding 2.			Missense_Mutation	SNP	ENST00000361373.4	37	c.1844G>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235271	0.79800	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.99319	-5.74;-5.74;-5.74;-5.74;-5.74	5.79	5.79	0.91817	Zinc finger, LIM-type (5);	0.000000	0.35013	N	0.003509	D	0.99697	0.9885	H	0.97587	4.035	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.933;1.0	D;D;D;D	0.91635	0.999;0.997;0.963;0.997	D	0.97510	1.0066	10	0.87932	D	0	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	615;353;610;500	B4E3K3;O75112-3;O75112;O75112-2	.;.;LDB3_HUMAN;.	F	531;615;500;353;500;610	ENSP00000401437:C615F;ENSP00000409148:C500F;ENSP00000263067:C353F;ENSP00000263066:C500F;ENSP00000355296:C610F	ENSP00000263066:C500F	C	+	2	0	LDB3	88467853	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	TGT		0.522	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			8	54	1	0	5.18039e-06	1	7.33556e-06	8	54				
XIRP1	165904	broad.mit.edu	37	3	39226294	39226294	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:39226294A>T	ENST00000340369.3	-	2	4871	c.4643T>A	c.(4642-4644)cTg>cAg	p.L1548Q	XIRP1_ENST00000421646.1_Missense_Mutation_p.L231Q|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1548					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCAATGTCCAGCAGCCTTGC	0.587																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(4642-4644)cTg>cAg		xin actin-binding repeat containing 1							92.0	96.0	94.0					3																	39226294		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39226294A>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4643T>A	3.37:g.39226294A>T	ENSP00000343140:p.Leu1548Gln					XIRP1_ENST00000421646.1_Missense_Mutation_p.L231Q|XIRP1_ENST00000396251.1_3'UTR	p.L1548Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	4871	-			1548					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4643T>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.796031	0.70567	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.32753	3.02;1.44	3.38	3.38	0.38709	.	0.000000	0.56097	U	0.000022	T	0.50939	0.1645	M	0.69823	2.125	0.44380	D	0.997283	D	0.89917	1.0	D	0.85130	0.997	T	0.54118	-0.8341	10	0.66056	D	0.02	.	10.3879	0.44152	1.0:0.0:0.0:0.0	.	1548	Q702N8	XIRP1_HUMAN	Q	1548;231	ENSP00000343140:L1548Q;ENSP00000391645:L231Q	ENSP00000343140:L1548Q	L	-	2	0	XIRP1	39201298	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.139000	0.64801	1.787000	0.52448	0.533000	0.62120	CTG		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		9	54	0	0	0	1	0	9	54				
PABPC5	140886	broad.mit.edu	37	X	90691045	90691045	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:90691045G>T	ENST00000312600.3	+	2	683	c.469G>T	c.(469-471)Gct>Tct	p.A157S	PABPC5_ENST00000373105.1_5'UTR|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	157	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A157T(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAGCCTGGCCGCTGCCAATAG	0.502																																						ENST00000312600.3																			1	Substitution - Missense(1)	p.A157T(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(469-471)Gct>Tct		poly(A) binding protein, cytoplasmic 5							53.0	48.0	50.0					X																	90691045		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691045G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.469G>T	X.37:g.90691045G>T	ENSP00000308012:p.Ala157Ser					PABPC5_ENST00000373105.1_5'UTR	p.A157S	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	683	+			157			RRM 2.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.469G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446956	0.63178	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.14766	2.48	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050994	0.85682	D	0.000000	T	0.18087	0.0434	N	0.10972	0.075	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	T	0.16247	-1.0409	10	0.28530	T	0.3	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	157	Q96DU9	PABP5_HUMAN	S	157;125	ENSP00000308012:A157S	ENSP00000308012:A157S	A	+	1	0	PABPC5	90577701	1.000000	0.71417	0.947000	0.38551	0.999000	0.98932	9.240000	0.95396	2.450000	0.82876	0.600000	0.82982	GCT		0.502	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		4	25	1	0	0.00024832	1	0.000309642	4	25				
DSTYK	25778	broad.mit.edu	37	1	205119875	205119875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:205119875C>A	ENST00000367162.3	-	11	2430	c.2400G>T	c.(2398-2400)aaG>aaT	p.K800N	DSTYK_ENST00000367160.4_Missense_Mutation_p.K459N|DSTYK_ENST00000367161.3_Missense_Mutation_p.K800N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGGCCTCTGGCTTGCAGAATC	0.542																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2398-2400)aaG>aaT		dual serine/threonine and tyrosine protein kinase							142.0	115.0	124.0					1																	205119875		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205119875C>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2400G>T	1.37:g.205119875C>A	ENSP00000356130:p.Lys800Asn					DSTYK_ENST00000367160.4_Missense_Mutation_p.K459N|DSTYK_ENST00000367161.3_Missense_Mutation_p.K800N	p.K800N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			11	2430	-			800			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2400G>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044461	0.75732	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.65364	-0.15;1.79;1.79	5.48	3.59	0.41128	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044809	0.85682	D	0.000000	T	0.72819	0.3508	M	0.73962	2.25	0.34558	D	0.712095	P;D	0.76494	0.93;0.999	P;D	0.77557	0.839;0.99	T	0.77446	-0.2585	10	0.44086	T	0.13	-23.5038	5.259	0.15563	0.0:0.595:0.0:0.405	.	800;800	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	N	459;800;800	ENSP00000356128:K459N;ENSP00000356129:K800N;ENSP00000356130:K800N	ENSP00000356128:K459N	K	-	3	2	DSTYK	203386498	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.942000	0.29017	1.301000	0.44836	0.563000	0.77884	AAG		0.542	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		5	38	1	0	0.000602214	1	0.000725341	5	38				
EXOC3	11336	broad.mit.edu	37	5	446357	446357	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:446357G>T	ENST00000512944.1	+	2	226	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	EXOC3_ENST00000315013.5_Missense_Mutation_p.V13L|EXOC3_ENST00000510441.1_3'UTR	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	24					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCGACAGCAGTGCAAAGGGT	0.597																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(37-39)Gtg>Ttg		exocyst complex component 3							76.0	80.0	79.0					5																	446357		2006	4164	6170	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:446357G>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.37G>T	5.37:g.446357G>T	ENSP00000425587:p.Val13Leu					EXOC3_ENST00000510441.1_3'UTR|EXOC3_ENST00000315013.5_Missense_Mutation_p.V13L	p.V13L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		2	226	+		Ovarian(839;0.0563)	24					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.37G>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285913	0.23478	.	.	ENSG00000180104	ENST00000512944;ENST00000508022;ENST00000315013;ENST00000340158	T;T	0.06933	3.24;3.24	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.03053	0.0090	N	0.01352	-0.895	0.80722	D	1	B	0.13594	0.008	B	0.18871	0.023	T	0.34279	-0.9835	10	0.02654	T	1	-35.0076	16.4341	0.83869	0.0:0.0:1.0:0.0	.	24	O60645	EXOC3_HUMAN	L	13;13;13;23	ENSP00000425587:V13L;ENSP00000323377:V13L	ENSP00000323377:V13L	V	+	1	0	EXOC3	499357	1.000000	0.71417	0.979000	0.43373	0.918000	0.54935	9.558000	0.98132	2.474000	0.83562	0.650000	0.86243	GTG		0.597	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		4	45	1	0	0.00909568	1	0.00998677	4	45				
UNC5C	8633	broad.mit.edu	37	4	96106222	96106222	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96106222C>T	ENST00000453304.1	-	13	2610	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	754					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAATTTGCTCTTCCAGAGGG	0.448																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(2260-2262)aaG>aaA		unc-5 homolog C (C. elegans)							117.0	118.0	118.0					4																	96106222		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96106222C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2262G>A	4.37:g.96106222C>T							p.K754K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	13	2610	-		Hepatocellular(203;0.114)	754					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2262G>A	CCDS3643.1																																																																																				0.448	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		9	75	0	0	0	1	0	9	75				
RGS3	5998	broad.mit.edu	37	9	116356334	116356334	+	Intron	SNP	G	G	C	rs375798739		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:116356334G>C	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462403.1_Silent_p.P45P|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTTTTTTCCGCTCCCCCTCC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(133-135)ccG>ccC		regulator of G-protein signaling 3							93.0	107.0	102.0					9																	116356334		2203	4300	6503	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356334G>C	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-376G>C	9.37:g.116356334G>C						RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000342620.5_Intron	p.P45P	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	569	+			208					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.135G>C	CCDS43869.1																																																																																				0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		24	127	0	0	0	1	0	24	127				
ZMYND8	23613	broad.mit.edu	37	20	45927650	45927650	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:45927650T>C	ENST00000311275.7	-	4	469	c.216A>G	c.(214-216)ccA>ccG	p.P72P	ZMYND8_ENST00000461685.1_Silent_p.P92P|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000352431.2_Silent_p.P92P|ZMYND8_ENST00000471951.2_Silent_p.P92P|ZMYND8_ENST00000262975.4_Silent_p.P72P|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000355972.4_Silent_p.P72P|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000536340.1_Silent_p.P99P	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	72					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGTGGTGAGTGGCTGCTTCA	0.453																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(214-216)ccA>ccG		zinc finger, MYND-type containing 8							135.0	130.0	132.0					20																	45927650		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45927650T>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.216A>G	20.37:g.45927650T>C						ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000461685.1_Silent_p.P92P|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000355972.4_Silent_p.P72P|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000262975.4_Silent_p.P72P|ZMYND8_ENST00000536340.1_Silent_p.P99P|ZMYND8_ENST00000471951.2_Silent_p.P92P|ZMYND8_ENST00000352431.2_Silent_p.P92P|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000446994.2_Intron	p.P72P			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		4	469	-			72					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.216A>G																																																																																					0.453	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		5	43	0	0	0	1	0	5	43				
OR2G3	81469	broad.mit.edu	37	1	247769226	247769226	+	Silent	SNP	C	C	T	rs267598475		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247769226C>T	ENST00000320002.2	+	1	371	c.339C>T	c.(337-339)atC>atT	p.I113I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGAATGTATCCTCTTGGCTG	0.488																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(337-339)atC>atT		olfactory receptor, family 2, subfamily G, member 3							263.0	231.0	242.0					1																	247769226		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769226C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.339C>T	1.37:g.247769226C>T						RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.I113I	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	371	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		113					B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.339C>T	CCDS31093.1																																																																																				0.488	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			28	127	0	0	0	1	0	28	127				
TRIM10	10107	broad.mit.edu	37	6	30121897	30121897	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:30121897C>T	ENST00000449742.2	-	7	1370	c.1295G>A	c.(1294-1296)aGg>aAg	p.R432K	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	432	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AAGAGACACCCTCACCTGCCG	0.622																																						ENST00000449742.2																			0				ovary(1)	1						c.(1294-1296)aGg>aAg		tripartite motif containing 10							47.0	42.0	44.0					6																	30121897		1510	2708	4218	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30121897C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1295G>A	6.37:g.30121897C>T	ENSP00000397073:p.Arg432Lys					TRIM10_ENST00000376704.3_Intron	p.R432K	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			7	1370	-			432			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1295G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815777	0.50527	.	.	ENSG00000204613	ENST00000449742;ENST00000376706	T	0.69175	-0.38	6.01	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.122378	0.37012	N	0.002293	T	0.64416	0.2596	M	0.83774	2.66	0.80722	D	1	P	0.40000	0.698	P	0.45753	0.492	T	0.67569	-0.5637	10	0.37606	T	0.19	.	12.1887	0.54254	0.0:0.9166:0.0:0.0834	.	432	Q9UDY6	TRI10_HUMAN	K	432	ENSP00000397073:R432K	ENSP00000365896:R432K	R	-	2	0	TRIM10	30229876	0.236000	0.23804	0.999000	0.59377	0.943000	0.58893	4.532000	0.60608	1.516000	0.48900	0.643000	0.83706	AGG		0.622	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			3	26	0	0	0	1	0	3	26				
OR4M1	441670	broad.mit.edu	37	14	20249052	20249052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:20249052A>G	ENST00000315957.4	+	1	652	c.571A>G	c.(571-573)Aac>Gac	p.N191D		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCCTGTGCCAACACCTTCCC	0.473																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(571-573)Aac>Gac		olfactory receptor, family 4, subfamily M, member 1							318.0	276.0	290.0					14																	20249052		2203	4297	6500	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249052A>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.571A>G	14.37:g.20249052A>G	ENSP00000319654:p.Asn191Asp						p.N191D	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	652	+	all_cancers(95;0.00108)		191					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.571A>G	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	0.250	-1.006982	0.02112	.	.	ENSG00000176299	ENST00000315957	T	0.00023	9.0	3.87	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.116572	0.38663	N	0.001620	T	0.00039	0.0001	N	0.00313	-1.665	0.30117	N	0.806068	B	0.17465	0.022	B	0.19666	0.026	T	0.10941	-1.0608	10	0.02654	T	1	-7.2801	5.6294	0.17501	0.78:0.0:0.22:0.0	.	191	Q8NGD0	OR4M1_HUMAN	D	191	ENSP00000319654:N191D	ENSP00000319654:N191D	N	+	1	0	OR4M1	19318892	0.015000	0.18098	0.998000	0.56505	0.959000	0.62525	0.471000	0.22100	0.812000	0.34326	0.414000	0.27820	AAC		0.473	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			22	200	0	0	0	1	0	22	200				
PCDH18	54510	broad.mit.edu	37	4	138450881	138450881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:138450881C>T	ENST00000344876.4	-	1	2748	c.2362G>A	c.(2362-2364)Ggg>Agg	p.G788R	PCDH18_ENST00000507846.1_Missense_Mutation_p.G568R|PCDH18_ENST00000510305.1_5'UTR|PCDH18_ENST00000412923.2_Missense_Mutation_p.G788R|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	788					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCATCTGCCCTCTTTCTAAG	0.478																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2362-2364)Ggg>Agg		protocadherin 18							120.0	106.0	111.0					4																	138450881		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138450881C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2362G>A	4.37:g.138450881C>T	ENSP00000355082:p.Gly788Arg					PCDH18_ENST00000510305.1_5'UTR|PCDH18_ENST00000412923.2_Missense_Mutation_p.G788R|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G568R	p.G788R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2748	-	all_hematologic(180;0.24)		788					A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2362G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725242	0.48833	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.54279	0.69;0.69;0.58	5.53	5.53	0.82687	.	0.000000	0.43919	D	0.000517	T	0.57080	0.2029	L	0.49126	1.545	0.80722	D	1	P;P;P	0.51933	0.868;0.919;0.949	B;P;B	0.48704	0.312;0.587;0.383	T	0.49163	-0.8968	10	0.25751	T	0.34	.	19.663	0.95879	0.0:1.0:0.0:0.0	.	568;788;788	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	R	788;788;568	ENSP00000355082:G788R;ENSP00000390688:G788R;ENSP00000425903:G568R	ENSP00000355082:G788R	G	-	1	0	PCDH18	138670331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.080000	0.76837	2.871000	0.98454	0.655000	0.94253	GGG		0.478	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		10	45	0	0	0	1	0	10	45				
PODN	127435	broad.mit.edu	37	1	53544425	53544425	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:53544425C>A	ENST00000312553.5	+	8	1394	c.1387C>A	c.(1387-1389)Cgc>Agc	p.R463S	PODN_ENST00000395871.2_Missense_Mutation_p.R321S|PODN_ENST00000371500.3_Missense_Mutation_p.R444S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	415					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGCTACAACCGCATCACCAG	0.647																																						ENST00000371500.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1330-1332)Cgc>Agc		podocan							161.0	126.0	138.0					1																	53544425		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544425C>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1387C>A	1.37:g.53544425C>A	ENSP00000308315:p.Arg463Ser					PODN_ENST00000312553.5_Missense_Mutation_p.R463S|PODN_ENST00000395871.2_Missense_Mutation_p.R321S|RP11-334A14.5_ENST00000447867.1_RNA	p.R444S	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			10	1671	+			415		T -> M (in dbSNP:rs12567021).			B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1330C>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510609	0.64522	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.54071	0.59;0.59;0.59	4.81	3.82	0.43975	.	0.151753	0.44483	D	0.000450	T	0.40145	0.1105	N	0.17723	0.515	0.39814	D	0.97274	P;P;B	0.41232	0.595;0.743;0.098	B;P;B	0.46208	0.257;0.507;0.165	T	0.12218	-1.0556	10	0.16420	T	0.52	.	10.4392	0.44455	0.3887:0.6113:0.0:0.0	.	321;444;463	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	444;321;463	ENSP00000360555:R444S;ENSP00000379212:R321S;ENSP00000308315:R463S	ENSP00000308315:R463S	R	+	1	0	PODN	53317013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.826000	0.48104	2.492000	0.84095	0.555000	0.69702	CGC		0.647	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		7	70	1	0	0.0293803	1	0.0312145	7	70				
PCDHGB6	56100	broad.mit.edu	37	5	140788984	140788984	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140788984G>T	ENST00000520790.1	+	1	1215	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAACTGGTGACAGATGGAG	0.458																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1213-1215)gtG>gtT									59.0	63.0	61.0					5																	140788984		1964	4176	6140	SO:0001819	synonymous_variant	56100							g.chr5:140788984G>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1215G>T	5.37:g.140788984G>T						PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.V405V	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1215	+								Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1215G>T	CCDS54929.1																																																																																				0.458	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		12	44	1	0	2.80697e-09	1	4.52563e-09	12	44				
DSEL	92126	broad.mit.edu	37	18	65178592	65178592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:65178592C>T	ENST00000310045.7	-	2	4757	c.3284G>A	c.(3283-3285)aGg>aAg	p.R1095K	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1085					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.R1095K(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAATTCTTTCCTCAATGGTTC	0.368																																						ENST00000310045.7																			1	Substitution - Missense(1)	p.R1095K(1)	large_intestine(1)	NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3283-3285)aGg>aAg		dermatan sulfate epimerase-like							66.0	63.0	64.0					18																	65178592		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178592C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3284G>A	18.37:g.65178592C>T	ENSP00000310565:p.Arg1095Lys					CTD-2541J13.2_ENST00000583493.1_RNA	p.R1095K	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4757	-		Esophageal squamous(42;0.129)	1085					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3284G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755367	0.31046	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.82711	-1.64	4.79	1.37	0.22104	Sulfotransferase domain (1);	0.349225	0.25570	N	0.029765	T	0.65059	0.2655	N	0.14661	0.345	0.21878	N	0.999495	B	0.02656	0.0	B	0.08055	0.003	T	0.48570	-0.9024	10	0.22706	T	0.39	-4.6372	8.3731	0.32427	0.0:0.6537:0.0:0.3463	.	1085	Q8IZU8	DSEL_HUMAN	K	1095;1085	ENSP00000310565:R1095K	ENSP00000310565:R1095K	R	-	2	0	DSEL	63329572	0.995000	0.38212	0.902000	0.35471	0.981000	0.71138	1.452000	0.35156	-0.010000	0.14271	0.563000	0.77884	AGG		0.368	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		4	38	0	0	0	1	0	4	38				
GTF2IRD1	9569	broad.mit.edu	37	7	73933816	73933816	+	Missense_Mutation	SNP	G	G	A	rs200483189		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:73933816G>A	ENST00000265755.3	+	6	1076	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R228Q|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R228Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R260Q	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	228					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGGGTCACGGGACTGTGGC	0.657																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(682-684)cGg>cAg		GTF2I repeat domain containing 1		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	89.0	86.0	87.0		779,683,683	4.2	1.0	7		87	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GTF2IRD1	NM_001199207.1,NM_005685.3,NM_016328.2	43,43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	260/977,228/945,228/960	73933816	2,13004	2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73933816G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.683G>A	7.37:g.73933816G>A	ENSP00000265755:p.Arg228Gln					GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R228Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R260Q|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R228Q	p.R228Q			Q9UHL9	GT2D1_HUMAN			6	2374	+			228					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.683G>A	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520386	0.85495	0.0	2.33E-4	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.32272	1.47;1.46;1.47;1.46	5.13	4.23	0.50019	.	0.539212	0.17651	N	0.166666	T	0.12817	0.0311	N	0.11560	0.145	0.39032	D	0.959959	B;P;P;P	0.49696	0.136;0.765;0.883;0.927	B;B;B;B	0.33620	0.009;0.033;0.082;0.167	T	0.07158	-1.0787	10	0.26408	T	0.33	-18.7051	10.7571	0.46243	0.0881:0.0:0.9119:0.0	.	260;228;228;228	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	Q	228;260;228;228	ENSP00000265755:R228Q;ENSP00000397566:R260Q;ENSP00000408477:R228Q;ENSP00000418383:R228Q	ENSP00000265755:R228Q	R	+	2	0	GTF2IRD1	73571752	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.332000	0.59279	2.550000	0.86006	0.561000	0.74099	CGG		0.657	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		6	74	0	0	0	1	0	6	74				
IL22	50616	broad.mit.edu	37	12	68647178	68647178	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:68647178G>T	ENST00000538666.1	-	2	121	c.51C>A	c.(49-51)gcC>gcA	p.A17A	IL22_ENST00000328087.4_Silent_p.A17A			Q9GZX6	IL22_HUMAN	interleukin 22	17					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GGCAGCTGGTGGCCAGGGTCC	0.582																																						ENST00000538666.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14						c.(49-51)gcC>gcA		interleukin 22							67.0	65.0	66.0					12																	68647178		2203	4300	6503	SO:0001819	synonymous_variant	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68647178G>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.51C>A	12.37:g.68647178G>T						IL22_ENST00000328087.4_Silent_p.A17A	p.A17A			Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	2	121	-		Myeloproliferative disorder(1001;0.0255)	17						Silent	SNP	ENST00000538666.1	37	c.51C>A	CCDS8982.1																																																																																				0.582	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		4	38	1	0	0.00909568	1	0.00998677	4	38				
ZNF615	284370	broad.mit.edu	37	19	52497498	52497498	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:52497498T>A	ENST00000602063.1	-	6	1180	c.831A>T	c.(829-831)atA>atT	p.I277I	ZNF615_ENST00000391795.3_Silent_p.I282I|ZNF615_ENST00000598071.1_Silent_p.I288I|ZNF615_ENST00000594083.1_Silent_p.I288I|ZNF615_ENST00000376716.5_Silent_p.I277I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTTCTGATGTATATTGAGCT	0.393																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(829-831)atA>atT		zinc finger protein 615							172.0	157.0	162.0					19																	52497498		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497498T>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.831A>T	19.37:g.52497498T>A						ZNF615_ENST00000594083.1_Silent_p.I288I|ZNF615_ENST00000391795.3_Silent_p.I282I|ZNF615_ENST00000376716.5_Silent_p.I277I|ZNF615_ENST00000598071.1_Silent_p.I288I	p.I277I			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1180	-		all_neural(266;0.117)	277					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.831A>T	CCDS12846.1																																																																																				0.393	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		8	118	0	0	0	1	0	8	118				
CASS4	57091	broad.mit.edu	37	20	55012464	55012464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:55012464C>A	ENST00000360314.3	+	3	506	c.281C>A	c.(280-282)tCa>tAa	p.S94*	CASS4_ENST00000371336.3_Nonsense_Mutation_p.S94*|CASS4_ENST00000434344.1_Nonsense_Mutation_p.S94*	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	94					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTGCCAGCTCAGAGGAGACC	0.662																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(280-282)tCa>tAa		Cas scaffolding protein family member 4							33.0	37.0	35.0					20																	55012464		2203	4300	6503	SO:0001587	stop_gained	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55012464C>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.281C>A	20.37:g.55012464C>A	ENSP00000353462:p.Ser94*					CASS4_ENST00000434344.1_Nonsense_Mutation_p.S94*|CASS4_ENST00000360314.3_Nonsense_Mutation_p.S94*	p.S94*	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			2	482	+			94					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Nonsense_Mutation	SNP	ENST00000360314.3	37	c.281C>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708414	0.96821	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	.	.	.	5.57	5.57	0.84162	.	0.818608	0.11143	N	0.595054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.058	14.3977	0.67022	0.1477:0.8523:0.0:0.0	.	.	.	.	X	94	.	ENSP00000353462:S94X	S	+	2	0	CASS4	54445871	0.000000	0.05858	0.015000	0.15790	0.236000	0.25371	-0.164000	0.09983	2.602000	0.87976	0.655000	0.94253	TCA		0.662	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		5	55	1	0	0.000602214	1	0.000725341	5	55				
TMEM71	137835	broad.mit.edu	37	8	133759256	133759256	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133759256G>C	ENST00000356838.3	-	5	504	c.362C>G	c.(361-363)tCt>tGt	p.S121C	TMEM71_ENST00000523829.1_Missense_Mutation_p.S140C|TMEM71_ENST00000377901.4_Missense_Mutation_p.S140C|TMEM71_ENST00000517538.1_5'Flank	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	140						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACTTGGAGAAGAGTTGATGTC	0.423																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(361-363)tCt>tGt		transmembrane protein 71							146.0	127.0	133.0					8																	133759256		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133759256G>C	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.362C>G	8.37:g.133759256G>C	ENSP00000349296:p.Ser121Cys					TMEM71_ENST00000523829.1_Missense_Mutation_p.S140C|TMEM71_ENST00000377901.4_Missense_Mutation_p.S140C	p.S121C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		5	504	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		140					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.362C>G	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699533	0.30142	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000522334	.	.	.	5.46	4.57	0.56435	.	0.516189	0.20495	N	0.091205	T	0.66187	0.2764	M	0.73598	2.24	0.09310	N	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.68943	0.939;0.911;0.961	T	0.60026	-0.7343	9	0.66056	D	0.02	-2.1559	12.2118	0.54383	0.0:0.1716:0.8284:0.0	.	140;140;121	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	C	140;121;140;43	.	ENSP00000349296:S121C	S	-	2	0	TMEM71	133828438	0.050000	0.20438	0.003000	0.11579	0.102000	0.19082	2.599000	0.46231	1.288000	0.44600	0.313000	0.20887	TCT		0.423	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		6	35	0	0	0	1	0	6	35				
ADAM19	8728	broad.mit.edu	37	5	156915444	156915444	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:156915444G>T	ENST00000517905.1	-	21	2423	c.2379C>A	c.(2377-2379)ccC>ccA	p.P793P	ADAM19_ENST00000430702.2_Silent_p.P526P|ADAM19_ENST00000257527.4_Silent_p.P793P|ADAM19_ENST00000394020.1_Silent_p.P795P			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	793					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P793P(1)|p.P794P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCTGGAGGGGGCCGGGGAG	0.602																																						ENST00000257527.4																			2	Substitution - coding silent(2)	p.P793P(1)|p.P794P(1)	lung(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2377-2379)ccC>ccA		ADAM metallopeptidase domain 19							33.0	37.0	36.0					5																	156915444		2201	4297	6498	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915444G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2379C>A	5.37:g.156915444G>T						ADAM19_ENST00000394020.1_Silent_p.P795P|ADAM19_ENST00000517905.1_Silent_p.P793P|ADAM19_ENST00000430702.2_Silent_p.P526P	p.P793P	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2457	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	793					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.2379C>A		.	.	.	.	.	.	.	.	.	.	G	1.641	-0.516591	0.04200	.	.	ENSG00000135074	ENST00000517374	T	0.03772	3.81	5.58	1.05	0.20165	.	0.000000	0.64402	D	0.000004	T	0.08044	0.0201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17137	-1.0379	7	0.52906	T	0.07	.	4.9799	0.14160	0.2804:0.0:0.5718:0.1478	.	.	.	.	H	364	ENSP00000431027:P364H	ENSP00000431027:P364H	P	-	2	0	ADAM19	156848022	0.957000	0.32711	1.000000	0.80357	0.057000	0.15508	-0.227000	0.09126	0.729000	0.32403	0.491000	0.48974	CCC		0.602	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		5	37	1	0	0.000602214	1	0.000725341	5	37				
FAT3	120114	broad.mit.edu	37	11	92533210	92533210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92533210G>T	ENST00000298047.6	+	9	7048	c.7031G>T	c.(7030-7032)gGc>gTc	p.G2344V	FAT3_ENST00000409404.2_Missense_Mutation_p.G2344V|FAT3_ENST00000525166.1_Missense_Mutation_p.G2194V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2344	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTCAAGTGGCTTAATCCTG	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7030-7032)gGc>gTc		FAT atypical cadherin 3							100.0	93.0	95.0					11																	92533210		1957	4147	6104	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533210G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7031G>T	11.37:g.92533210G>T	ENSP00000298047:p.Gly2344Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.G2344V|FAT3_ENST00000525166.1_Missense_Mutation_p.G2194V	p.G2344V			Q8TDW7	FAT3_HUMAN			9	7048	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2344			Cadherin 21.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7031G>T		.	.	.	.	.	.	.	.	.	.	G	18.40	3.615965	0.66672	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.69306	-0.39;-0.39;-0.39	5.95	5.95	0.96441	.	.	.	.	.	D	0.91175	0.7220	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94516	0.7723	9	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	2344	Q8TDW7-3	.	V	2344;2344;2194	ENSP00000298047:G2344V;ENSP00000387040:G2344V;ENSP00000432586:G2194V	ENSP00000298047:G2344V	G	+	2	0	FAT3	92172858	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.787000	0.99055	2.824000	0.97209	0.655000	0.94253	GGC		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	46	1	0	5.01169e-05	1	6.59849e-05	18	46				
TLL1	7092	broad.mit.edu	37	4	166795134	166795134	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:166795134G>C	ENST00000061240.2	+	1	725	c.78G>C	c.(76-78)tgG>tgC	p.W26C	TLL1_ENST00000513213.1_Missense_Mutation_p.W26C|TLL1_ENST00000507499.1_Missense_Mutation_p.W26C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	26					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGAGCTATGGGTCTGCGCTG	0.537																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(76-78)tgG>tgC		tolloid-like 1							200.0	204.0	203.0					4																	166795134		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166795134G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.78G>C	4.37:g.166795134G>C	ENSP00000061240:p.Trp26Cys					TLL1_ENST00000507499.1_Missense_Mutation_p.W26C|TLL1_ENST00000513213.1_Missense_Mutation_p.W26C	p.W26C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	1	725	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	26					B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.78G>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.181988	0.01633	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.46063	0.88;0.88;0.88	4.29	2.33	0.28932	.	0.537726	0.17806	U	0.161399	T	0.23054	0.0557	N	0.14661	0.345	0.37893	D	0.930771	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07366	-1.0776	10	0.35671	T	0.21	.	7.5147	0.27593	0.0:0.1398:0.3204:0.5398	.	26;26	E9PD25;O43897	.;TLL1_HUMAN	C	26	ENSP00000061240:W26C;ENSP00000426082:W26C;ENSP00000422937:W26C	ENSP00000061240:W26C	W	+	3	0	TLL1	167014584	0.955000	0.32602	0.897000	0.35233	0.012000	0.07955	0.302000	0.19192	0.720000	0.32209	0.462000	0.41574	TGG		0.537	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			13	93	0	0	0	1	0	13	93				
AGT	183	broad.mit.edu	37	1	230846521	230846521	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:230846521C>A	ENST00000366667.4	-	2	290	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	26					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAGCCCAGGCCAGGAGGCAG	0.592																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(76-78)Gcc>Tcc		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						51.0	50.0	50.0					1																	230846521		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846521C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.76G>T	1.37:g.230846521C>A	ENSP00000355627:p.Ala26Ser					RP11-99J16__A.2_ENST00000412344.1_RNA	p.A26S	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	290	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	26					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.76G>T	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648774	0.29336	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.81579	-1.51	5.37	2.45	0.29901	.	0.793223	0.12098	N	0.499792	T	0.72003	0.3407	L	0.33485	1.01	0.20403	N	0.999908	P;P;P	0.48407	0.91;0.91;0.91	P;P;P	0.45099	0.469;0.469;0.469	T	0.59337	-0.7473	10	0.41790	T	0.15	.	7.0324	0.24975	0.0:0.66:0.1244:0.2156	.	26;26;26	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	S	26	ENSP00000355627:A26S	ENSP00000355627:A26S	A	-	1	0	AGT	228913144	0.550000	0.26489	0.971000	0.41717	0.412000	0.31113	0.220000	0.17660	0.324000	0.23333	0.561000	0.74099	GCC		0.592	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		7	46	1	0	8.12818e-05	1	0.000104036	7	46				
PAPSS1	9061	broad.mit.edu	37	4	108608319	108608319	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:108608319T>C	ENST00000265174.4	-	4	698	c.426A>G	c.(424-426)gcA>gcG	p.A142A	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	142					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GAATTTGCCTTGCATTGTTGC	0.323																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(424-426)gcA>gcG		3'-phosphoadenosine 5'-phosphosulfate synthase 1							74.0	76.0	75.0					4																	108608319		2203	4300	6503	SO:0001819	synonymous_variant	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108608319T>C	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.426A>G	4.37:g.108608319T>C						PAPSS1_ENST00000511304.1_5'UTR	p.A142A	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	4	698	-		Hepatocellular(203;0.217)	142					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Silent	SNP	ENST00000265174.4	37	c.426A>G	CCDS3676.1																																																																																				0.323	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			5	40	0	0	0	1	0	5	40				
SRP54-AS1	100506157	broad.mit.edu	37	14	35409183	35409183	+	RNA	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:35409183G>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CTGAGAGAAAGAGACTCTTCA	0.438																																						ENST00000556355.1																			0																																																			100506157							g.chr14:35409183G>C																													14.37:g.35409183G>C						RP11-85K15.2_ENST00000555015.1_RNA								0	257	-									RNA	SNP	ENST00000556355.1	37																																																																																						0.438	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			5	28	0	0	0	1	0	5	28				
ARL5B	221079	broad.mit.edu	37	10	18955536	18955536	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:18955536G>T	ENST00000377275.3	+	2	312	c.79G>T	c.(79-81)Gca>Tca	p.A27S		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	27					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						ACTGGATAATGCAGGGAAAAC	0.303																																						ENST00000377275.3																			0				lung(1)|ovary(1)	2						c.(79-81)Gca>Tca		ADP-ribosylation factor-like 5B							162.0	157.0	159.0					10																	18955536		2203	4295	6498	SO:0001583	missense	221079				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr10:18955536G>T	AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23052	protein-coding gene	gene with protein product		608909	"""ADP-ribosylation factor-like 8"""	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.79G>T	10.37:g.18955536G>T	ENSP00000366487:p.Ala27Ser						p.A27S	NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN			2	312	+			27						Missense_Mutation	SNP	ENST00000377275.3	37	c.79G>T	CCDS7131.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507007	0.96386	.	.	ENSG00000165997	ENST00000377275	T	0.72615	-0.67	5.66	5.66	0.87406	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.78344	2.41	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	D	0.85840	0.1397	10	0.87932	D	0	-14.5003	20.1041	0.97884	0.0:0.0:1.0:0.0	.	27	Q96KC2	ARL5B_HUMAN	S	27	ENSP00000366487:A27S	ENSP00000366487:A27S	A	+	1	0	ARL5B	18995542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.826000	0.97356	0.655000	0.94253	GCA		0.303	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		4	44	1	0	0.014758	1	0.0159185	4	44				
TNS4	84951	broad.mit.edu	37	17	38652502	38652502	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:38652502C>A	ENST00000254051.6	-	2	334	c.176G>T	c.(175-177)tGc>tTc	p.C59F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	59					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCCCCATGCAGGGCACGGG	0.692																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(175-177)tGc>tTc		tensin 4							26.0	29.0	28.0					17																	38652502		2203	4299	6502	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38652502C>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.176G>T	17.37:g.38652502C>A	ENSP00000254051:p.Cys59Phe						p.C59F	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		2	334	-		Breast(137;0.000496)	59					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.176G>T	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	3.689	-0.063977	0.07273	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19250	2.16	5.43	-0.0466	0.13846	.	1.736770	0.02610	N	0.102098	T	0.14787	0.0357	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.12156	0.007	T	0.24905	-1.0147	10	0.28530	T	0.3	1.7833	7.8961	0.29708	0.0:0.5578:0.0:0.4422	.	59	Q8IZW8	TENS4_HUMAN	F	59	ENSP00000254051:C59F	ENSP00000254051:C59F	C	-	2	0	TNS4	35906028	0.001000	0.12720	0.003000	0.11579	0.027000	0.11550	-0.124000	0.10595	-0.213000	0.10094	-0.810000	0.03169	TGC		0.692	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		9	68	1	0	0.000274275	1	0.00034016	9	68				
SLCO1B7	338821	broad.mit.edu	37	12	21242848	21242848	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:21242848C>T	ENST00000421593.2	+	13	1731	c.1731C>T	c.(1729-1731)gcC>gcT	p.A577A	LST3_ENST00000540229.1_Silent_p.A685A|LST3_ENST00000381541.3_Silent_p.A624A|SLCO1B3_ENST00000553473.1_Silent_p.A685A|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.A624A	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	577						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACAGAAGAGCCTTCTTCGGCT	0.299																																						ENST00000540229.1																			0											c.(2053-2055)gcC>gcT									52.0	51.0	52.0					12																	21242848		1817	4085	5902	SO:0001819	synonymous_variant	0							g.chr12:21242848C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1731C>T	12.37:g.21242848C>T						LST3_ENST00000381541.3_Silent_p.A624A|SLCO1B3_ENST00000553473.1_Silent_p.A685A|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.A577A|SLCO1B7_ENST00000554957.1_Silent_p.A624A	p.A685A							16	2120	+								Q71QF0	Silent	SNP	ENST00000421593.2	37	c.2055C>T	CCDS44843.1																																																																																				0.299	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		3	25	0	0	0	1	0	3	25				
HNRNPH1	3187	broad.mit.edu	37	5	179048345	179048345	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:179048345C>A	ENST00000356731.5	-	2	1686	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G51C|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G51C|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G51C|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G51C|HNRNPH1_ENST00000524180.1_5'UTR			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	51	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTTGGTCTGCCTTCTCTGGTG	0.393																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(151-153)Ggc>Tgc		heterogeneous nuclear ribonucleoprotein H1 (H)							127.0	125.0	126.0					5																	179048345		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179048345C>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.151G>T	5.37:g.179048345C>A	ENSP00000349168:p.Gly51Cys					HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G51C|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G51C|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G51C|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.G51C	p.G51C			P31943	HNRH1_HUMAN			2	1686	-			51			RRM 1.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.151G>T	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.565799	0.86439	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;2.55;0.85;0.85;0.85;0.85	5.02	5.02	0.67125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91163	0.4962	10	0.87932	D	0	-5.4198	18.6847	0.91559	0.0:1.0:0.0:0.0	.	51	P31943	HNRH1_HUMAN	C	51	ENSP00000377082:G51C;ENSP00000397797:G51C;ENSP00000349168:G51C;ENSP00000327539:G51C;ENSP00000426275:G51C;ENSP00000427408:G51C;ENSP00000425732:G51C;ENSP00000420850:G51C;ENSP00000427986:G51C;ENSP00000424087:G51C;ENSP00000423140:G51C;ENSP00000427388:G51C;ENSP00000426518:G51C;ENSP00000421695:G51C;ENSP00000429661:G51C;ENSP00000425343:G51C	ENSP00000327539:G51C	G	-	1	0	HNRNPH1	178980951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.479000	0.83701	0.591000	0.81541	GGC		0.393	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		9	59	1	0	1.12685e-05	1	1.55492e-05	9	59				
PCDH17	27253	broad.mit.edu	37	13	58206756	58206756	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58206756C>A	ENST00000377918.3	+	1	102	c.76C>A	c.(76-78)Ccg>Acg	p.P26T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	26	Cadherin 1. {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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACTCCGTGCCGGAGGAGCA	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(76-78)Ccg>Acg		protocadherin 17							41.0	39.0	40.0					13																	58206756		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206756C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.76C>A	13.37:g.58206756C>A	ENSP00000367151:p.Pro26Thr						p.P26T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	102	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	26			Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.76C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471468	0.63737	.	.	ENSG00000118946	ENST00000377918	T	0.16897	2.31	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.80028	2.48	0.58432	D	0.999996	P;P	0.46277	0.848;0.875	P;P	0.51297	0.535;0.665	T	0.06180	-1.0841	9	.	.	.	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	26;26	O14917-2;O14917	.;PCD17_HUMAN	T	26	ENSP00000367151:P26T	.	P	+	1	0	PCDH17	57104757	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.642000	0.46596	2.894000	0.99253	0.655000	0.94253	CCG		0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		3	21	1	0	0.115264	1	0.120372	3	21				
SCN11A	11280	broad.mit.edu	37	3	38888794	38888794	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:38888794G>T	ENST00000302328.3	-	26	4965	c.4767C>A	c.(4765-4767)atC>atA	p.I1589I	SCN11A_ENST00000450244.1_Silent_p.I1589I|SCN11A_ENST00000456224.3_Silent_p.I1551I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1589					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)	GAAAGGAGATGATAATGTAAC	0.433																																						ENST00000302328.3																			0				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						c.(4765-4767)atC>atA		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						126.0	124.0	125.0					3																	38888794		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888794G>T	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.4767C>A	3.37:g.38888794G>T						SCN11A_ENST00000450244.1_Silent_p.I1589I|SCN11A_ENST00000456224.3_Silent_p.I1551I	p.I1589I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4965	-			1589					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.4767C>A	CCDS33737.1																																																																																				0.433	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		14	47	1	0	9.31168e-06	1	1.29658e-05	14	47				
TYK2	7297	broad.mit.edu	37	19	10464866	10464866	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:10464866G>A	ENST00000525621.1	-	20	3241	c.2760C>T	c.(2758-2760)aaC>aaT	p.N920N	TYK2_ENST00000524462.1_Silent_p.N735N|TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000264818.6_Silent_p.N920N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	920	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGTGCCGTCGTTGGTCGGAT	0.647																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2758-2760)aaC>aaT		tyrosine kinase 2							121.0	104.0	110.0					19																	10464866		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10464866G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2760C>T	19.37:g.10464866G>A						TYK2_ENST00000524462.1_Silent_p.N735N|TYK2_ENST00000264818.6_Silent_p.N920N	p.N920N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		20	3241	-			920			Protein kinase 2.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.2760C>T	CCDS12236.1																																																																																				0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			8	40	0	0	0	1	0	8	40				
GUCY1A3	2982	broad.mit.edu	37	4	156634659	156634659	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156634659C>G	ENST00000296518.7	+	7	1705	c.1496C>G	c.(1495-1497)cCg>cGg	p.P499R	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P499R|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.P241R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P499R			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	499	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGTGCTCACCGCTGCAGGTC	0.522																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1495-1497)cCg>cGg		guanylate cyclase 1, soluble, alpha 3							85.0	75.0	79.0					4																	156634659		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634659C>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1496C>G	4.37:g.156634659C>G	ENSP00000296518:p.Pro499Arg					GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P499R|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.P241R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P499R|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P499R	p.P499R			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1705	+	all_hematologic(180;0.24)	Renal(120;0.0854)	499			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1496C>G	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516491	0.85495	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.96009	0.8700	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97253	0.9899	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	499;499	B3KU69;Q02108	.;GCYA3_HUMAN	R	499;499;499;499;241;499;499	ENSP00000424361:P499R;ENSP00000421493:P499R;ENSP00000426968:P499R;ENSP00000412201:P499R;ENSP00000377418:P241R;ENSP00000296518:P499R;ENSP00000426040:P499R	ENSP00000296518:P499R	P	+	2	0	GUCY1A3	156854109	1.000000	0.71417	0.170000	0.22879	0.964000	0.63967	7.792000	0.85828	2.717000	0.92951	0.655000	0.94253	CCG		0.522	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			7	24	0	0	0	1	0	7	24				
BRCA2	675	broad.mit.edu	37	13	32968936	32968936	+	Missense_Mutation	SNP	A	A	G	rs80359208		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:32968936A>G	ENST00000380152.3	+	25	9600	c.9367A>G	c.(9367-9369)Agc>Ggc	p.S3123G	BRCA2_ENST00000544455.1_Missense_Mutation_p.S3123G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3123					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATTGCTGCAAGCAACCTCCA	0.388			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9367-9369)Agc>Ggc	Homologous recombination	breast cancer 2, early onset							104.0	96.0	99.0					13																	32968936		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32968936A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9367A>G	13.37:g.32968936A>G	ENSP00000369497:p.Ser3123Gly	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S3123G	p.S3123G	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	25	9594	+		Lung SC(185;0.0262)	3123					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.9367A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555714	0.86231	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.86432	-2.12;-2.12	5.89	5.89	0.94794	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	M	0.82517	2.595	0.40196	D	0.977469	D	0.89917	1.0	D	0.87578	0.998	D	0.94680	0.7864	10	0.72032	D	0.01	.	14.8794	0.70519	1.0:0.0:0.0:0.0	.	3123	P51587	BRCA2_HUMAN	G	3123	ENSP00000369497:S3123G;ENSP00000439902:S3123G	ENSP00000369497:S3123G	S	+	1	0	BRCA2	31866936	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	6.046000	0.71029	2.250000	0.74265	0.455000	0.32223	AGC		0.388	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		6	35	0	0	0	1	0	6	35				
MCF2	4168	broad.mit.edu	37	X	138667263	138667263	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:138667263T>C	ENST00000370576.4	-	24	2916	c.2707A>G	c.(2707-2709)Act>Gct	p.T903A	MCF2_ENST00000520602.1_Missense_Mutation_p.T963A|MCF2_ENST00000414978.1_Missense_Mutation_p.T963A|MCF2_ENST00000519895.1_Missense_Mutation_p.T979A|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370578.4_Missense_Mutation_p.T1048A|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.T919A	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	903					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCATCATAAGTAGGGTAGAAA	0.358																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2887-2889)Act>Gct		MCF.2 cell line derived transforming sequence							168.0	162.0	164.0					X																	138667263		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138667263T>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2707A>G	X.37:g.138667263T>C	ENSP00000359608:p.Thr903Ala					MCF2_ENST00000370576.4_Missense_Mutation_p.T903A|MCF2_ENST00000519895.1_Missense_Mutation_p.T979A|MCF2_ENST00000338585.6_Missense_Mutation_p.T919A|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370578.4_Missense_Mutation_p.T1048A|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000414978.1_Missense_Mutation_p.T963A	p.T963A			P10911	MCF2_HUMAN			27	3172	-	Acute lymphoblastic leukemia(192;0.000127)		903					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2887A>G	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.37|14.37	2.515458|2.515458	0.44763|0.44763	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T|.	0.45276|.	1.44;1.33;1.43;1.44;0.9;1.47;1.37|.	5.69|5.69	-5.1|-5.1	0.02911|0.02911	.|.	0.653749|.	0.16003|.	N|.	0.234222|.	T|T	0.14013|0.14013	0.0339|0.0339	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.06786|.	0.0;0.0;0.0;0.001;0.0|.	B;B;B;B;B|.	0.04013|.	0.0;0.0;0.001;0.001;0.001|.	T|T	0.25984|0.25984	-1.0116|-1.0116	10|5	0.25751|.	T|.	0.34|.	.|.	0.3719|0.3719	0.00381|0.00381	0.237:0.2347:0.2667:0.2616|0.237:0.2347:0.2667:0.2616	.|.	979;903;1048;919;903|.	E9PH77;B2R9S6;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;MCF2_HUMAN|.	A|C	963;903;1048;963;506;979;919|406	ENSP00000427745:T963A;ENSP00000359608:T903A;ENSP00000359610:T1048A;ENSP00000397055:T963A;ENSP00000405848:T506A;ENSP00000430276:T979A;ENSP00000342204:T919A|.	ENSP00000342204:T919A|.	T|Y	-|-	1|2	0|0	MCF2|MCF2	138494929|138494929	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.950000|0.950000	0.60333|0.60333	-0.249000|-0.249000	0.08842|0.08842	-0.652000|-0.652000	0.05408|0.05408	0.486000|0.486000	0.48141|0.48141	ACT|TAC		0.358	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		12	51	0	0	0	1	0	12	51				
SLC17A3	10786	broad.mit.edu	37	6	25862543	25862543	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:25862543G>T	ENST00000360657.3	-	3	506	c.221C>A	c.(220-222)tCc>tAc	p.S74Y	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74Y|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S74Y			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(220-222)tCc>tAc		solute carrier family 17 (organic anion transporter), member 3							196.0	152.0	167.0					6																	25862543		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862543G>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.221C>A	6.37:g.25862543G>T	ENSP00000353873:p.Ser74Tyr					SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74Y|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S74Y	p.S74Y	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			3	330	-			74					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.221C>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259957	0.23051	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.63255	0.31;-0.03;-0.03	3.81	-0.919	0.10478	.	.	.	.	.	T	0.41465	0.1160	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.44380	0.561;0.834;0.834;0.561	B;P;P;B	0.52554	0.178;0.702;0.702;0.086	T	0.40757	-0.9546	9	0.87932	D	0	.	0.4997	0.00578	0.2806:0.1844:0.3468:0.1882	.	74;55;74;74	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	Y	74	ENSP00000380250:S74Y;ENSP00000353873:S74Y;ENSP00000355307:S74Y	ENSP00000353873:S74Y	S	-	2	0	SLC17A3	25970522	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-0.358000	0.07641	-0.205000	0.10219	0.557000	0.71058	TCC		0.448	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			6	49	1	0	0.217242	1	0.220847	6	49				
TRAM1L1	133022	broad.mit.edu	37	4	118005950	118005950	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:118005950A>T	ENST00000310754.4	-	1	786	c.600T>A	c.(598-600)atT>atA	p.I200I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	200	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GGTGAAGACCAATGTAGACAA	0.383																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(598-600)atT>atA		translocation associated membrane protein 1-like 1							161.0	151.0	154.0					4																	118005950		2203	4300	6503	SO:0001819	synonymous_variant	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005950A>T	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.600T>A	4.37:g.118005950A>T							p.I200I	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	786	-			200			TLC.		Q8N2L7	Silent	SNP	ENST00000310754.4	37	c.600T>A	CCDS3707.1																																																																																				0.383	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		14	66	0	0	0	1	0	14	66				
ADARB2	105	broad.mit.edu	37	10	1230936	1230936	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:1230936G>C	ENST00000381312.1	-	9	2233	c.1908C>G	c.(1906-1908)ccC>ccG	p.P636P	ADARB2_ENST00000381305.1_Silent_p.P38P|ADARB2_ENST00000381310.3_Silent_p.P145P	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	636	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCATGCTGAAGGGGGGCGACT	0.677																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1906-1908)ccC>ccG		adenosine deaminase, RNA-specific, B2 (non-functional)							34.0	33.0	33.0					10																	1230936		2202	4299	6501	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1230936G>C	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1908C>G	10.37:g.1230936G>C						ADARB2_ENST00000381305.1_Silent_p.P38P|ADARB2_ENST00000381310.3_Silent_p.P145P	p.P636P	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2233	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	636			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1908C>G	CCDS7058.1																																																																																				0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	21	0	0	0	1	0	5	21				
SVEP1	79987	broad.mit.edu	37	9	113170823	113170823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:113170823G>A	ENST00000401783.2	-	38	7393	c.7057C>T	c.(7057-7059)Cat>Tat	p.H2353Y	SVEP1_ENST00000297826.5_Missense_Mutation_p.H279Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.H2330Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2353	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGACATGCCCTTCTTTA	0.512																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(7057-7059)Cat>Tat		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							57.0	56.0	56.0					9																	113170823		1907	4128	6035	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170823G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7057C>T	9.37:g.113170823G>A	ENSP00000384917:p.His2353Tyr					SVEP1_ENST00000374469.1_Missense_Mutation_p.H2330Y|SVEP1_ENST00000297826.5_Missense_Mutation_p.H279Y	p.H2353Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7393	-			2353			Sushi 16.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7057C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.072478	0.00036	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.11604	2.76;2.76;2.76	5.8	3.64	0.41730	Complement control module (2);Sushi/SCR/CCP (3);	0.312005	0.40469	N	0.001090	T	0.01835	0.0058	N	0.00221	-1.82	0.38090	D	0.936922	B	0.06786	0.001	B	0.08055	0.003	T	0.36212	-0.9757	10	0.02654	T	1	.	7.3928	0.26919	0.1251:0.0:0.7004:0.1745	.	2353	Q4LDE5	SVEP1_HUMAN	Y	2353;2330;279;25	ENSP00000384917:H2353Y;ENSP00000363593:H2330Y;ENSP00000297826:H279Y	ENSP00000297826:H279Y	H	-	1	0	SVEP1	112210644	1.000000	0.71417	0.034000	0.17996	0.042000	0.13812	4.515000	0.60489	1.457000	0.47850	0.655000	0.94253	CAT		0.512	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	32	0	0	0	1	0	8	32				
NSD1	64324	broad.mit.edu	37	5	176637201	176637201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:176637201A>T	ENST00000439151.2	+	5	1846	c.1801A>T	c.(1801-1803)Aag>Tag	p.K601*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.K332*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.K498*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.K332*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	601					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGATCTCAAAGTGTTCTCG	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1801-1803)Aag>Tag		nuclear receptor binding SET domain protein 1							64.0	68.0	67.0					5																	176637201		2202	4299	6501	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637201A>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1801A>T	5.37:g.176637201A>T	ENSP00000395929:p.Lys601*	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Nonsense_Mutation_p.K498*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.K332*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.K332*	p.K601*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1846	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	601					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.1801A>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649196	0.29336	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	4.8	3.61	0.41365	.	0.473004	0.21664	N	0.070964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0128	0.41997	0.586:0.414:0.0:0.0	.	.	.	.	X	332;332;601;332;498	.	.	K	+	1	0	NSD1	176569807	0.980000	0.34600	0.811000	0.32455	0.151000	0.21798	3.008000	0.49544	0.932000	0.37266	0.482000	0.46254	AAG		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		9	43	0	0	0	1	0	9	43				
ZFHX4	79776	broad.mit.edu	37	8	77763359	77763359	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:77763359A>T	ENST00000521891.2	+	10	4650	c.4202A>T	c.(4201-4203)cAt>cTt	p.H1401L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1375L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1356L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1356L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1356					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)			CGCTGTAACCATTGTAGCTTG	0.448										HNSCC(33;0.089)																												ENST00000521891.2																			0				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						c.(4201-4203)cAt>cTt		zinc finger homeobox 4							84.0	79.0	81.0					8																	77763359		1892	4116	6008	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763359A>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.4202A>T	8.37:g.77763359A>T	ENSP00000430497:p.His1401Leu	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1356L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1375L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1356L	p.H1401L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4650	+			1356					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4202A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	14.36	2.512954	0.44660	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.45867	U	0.000326	T	0.42177	0.1191	M	0.63428	1.95	0.80722	D	1	P;P;P	0.50528	0.895;0.936;0.936	P;P;P	0.55824	0.614;0.785;0.785	T	0.33777	-0.9855	10	0.54805	T	0.06	.	14.5713	0.68213	1.0:0.0:0.0:0.0	.	1356;1356;1401	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1401;1401;1356;1356;1375	ENSP00000430497:H1401L;ENSP00000399605:H1356L;ENSP00000050961:H1356L;ENSP00000430848:H1375L	ENSP00000050961:H1356L	H	+	2	0	ZFHX4	77925914	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	9.087000	0.94110	2.096000	0.63516	0.454000	0.30748	CAT		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	30	0	0	0	1	0	6	30				
MAMDC2	256691	broad.mit.edu	37	9	72758537	72758537	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:72758537C>A	ENST00000377182.4	+	9	1823	c.1206C>A	c.(1204-1206)ccC>ccA	p.P402P	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	402	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTATGGGCCCTCCCTACCAG	0.423																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1204-1206)ccC>ccA		MAM domain containing 2							102.0	90.0	94.0					9																	72758537		2203	4300	6503	SO:0001819	synonymous_variant	256691					endoplasmic reticulum|membrane		g.chr9:72758537C>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1206C>A	9.37:g.72758537C>A						MAMDC2-AS1_ENST00000591368.1_RNA	p.P402P	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			9	1823	+			402			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Silent	SNP	ENST00000377182.4	37	c.1206C>A	CCDS6631.1																																																																																				0.423	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		24	55	1	0	2.32416e-17	1	3.94806e-17	24	55				
PDZRN4	29951	broad.mit.edu	37	12	41966950	41966950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:41966950C>A	ENST00000402685.2	+	10	2377	c.2369C>A	c.(2368-2370)tCg>tAg	p.S790*	PDZRN4_ENST00000298919.7_Nonsense_Mutation_p.S530*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.S532*	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	790							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGTAAAGAGTCGACCTCCACC	0.502																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1588-1590)tCg>tAg		PDZ domain containing ring finger 4							123.0	123.0	123.0					12																	41966950		2203	4300	6503	SO:0001587	stop_gained	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966950C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2369C>A	12.37:g.41966950C>A	ENSP00000384197:p.Ser790*					PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.S532*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.S790*	p.S530*			Q6ZMN7	PZRN4_HUMAN			10	1977	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	790					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	ENST00000402685.2	37	c.1589C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513122	0.85389	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	.	.	.	5.13	3.25	0.37280	.	5.000370	0.00567	N	0.000282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6232	8.3616	0.32361	0.2829:0.6449:0.0:0.0722	.	.	.	.	X	790;532;530	.	ENSP00000298919:S530X	S	+	2	0	PDZRN4	40253217	0.503000	0.26115	0.545000	0.28153	0.005000	0.04900	0.996000	0.29719	0.784000	0.33661	-0.133000	0.14855	TCG		0.502	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		13	102	1	0	5.50884e-06	1	7.75287e-06	13	102				
SCAF4	57466	broad.mit.edu	37	21	33057369	33057369	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:33057369T>A	ENST00000286835.7	-	19	2863	c.2481A>T	c.(2479-2481)tcA>tcT	p.S827S	SCAF4_ENST00000399804.1_Silent_p.S805S|SCAF4_ENST00000434667.3_Silent_p.S812S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	827						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TACCAAGAAGTGAAACAGGCT	0.498																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2479-2481)tcA>tcT		SR-related CTD-associated factor 4							59.0	55.0	56.0					21																	33057369		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33057369T>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2481A>T	21.37:g.33057369T>A						SCAF4_ENST00000434667.3_Silent_p.S812S|SCAF4_ENST00000399804.1_Silent_p.S805S	p.S827S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			19	2863	-			827					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.2481A>T	CCDS33537.1																																																																																				0.498	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		4	32	0	0	0	1	0	4	32				
SRPK2	6733	broad.mit.edu	37	7	104783612	104783612	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104783612C>A	ENST00000393651.3	-	10	1066	c.979G>T	c.(979-981)Gat>Tat	p.D327Y	SRPK2_ENST00000489828.1_Missense_Mutation_p.D316Y|SRPK2_ENST00000357311.3_Missense_Mutation_p.D316Y	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TATTCGCCATCCTGGTCATTG	0.493																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(946-948)Gat>Tat		SRSF protein kinase 2							138.0	124.0	129.0					7																	104783612		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104783612C>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.979G>T	7.37:g.104783612C>A	ENSP00000377262:p.Asp327Tyr					SRPK2_ENST00000489828.1_Missense_Mutation_p.D316Y|SRPK2_ENST00000393651.3_Missense_Mutation_p.D327Y	p.D316Y	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			9	1117	-			316			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.946G>T	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260892	0.80246	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.22539	1.95;1.95;1.95	5.57	5.57	0.84162	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.326549	0.31648	N	0.007292	T	0.33818	0.0876	L	0.55017	1.72	0.80722	D	1	P;B	0.39940	0.696;0.34	P;B	0.46479	0.518;0.174	T	0.02813	-1.1107	10	0.62326	D	0.03	-17.985	19.5379	0.95262	0.0:1.0:0.0:0.0	.	327;316	P78362-2;P78362	.;SRPK2_HUMAN	Y	327;316;316	ENSP00000377262:D327Y;ENSP00000349863:D316Y;ENSP00000419791:D316Y	ENSP00000349863:D316Y	D	-	1	0	SRPK2	104570848	0.999000	0.42202	0.875000	0.34327	0.848000	0.48234	3.432000	0.52824	2.623000	0.88846	0.555000	0.69702	GAT		0.493	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		6	80	1	0	8.12818e-05	1	0.000104036	6	80				
MAML1	9794	broad.mit.edu	37	5	179193027	179193027	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:179193027C>A	ENST00000292599.3	+	2	1279	c.1016C>A	c.(1015-1017)cCc>cAc	p.P339H	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGATTCCCCCAGCCTAGGG	0.612																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1015-1017)cCc>cAc		mastermind-like 1 (Drosophila)							31.0	34.0	33.0					5																	179193027		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193027C>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1016C>A	5.37:g.179193027C>A	ENSP00000292599:p.Pro339His					MAML1_ENST00000503050.1_3'UTR	p.P339H	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1279	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	339						Missense_Mutation	SNP	ENST00000292599.3	37	c.1016C>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503597	0.44558	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.35789	1.29	4.4	3.53	0.40419	.	0.407546	0.25497	N	0.030280	T	0.56834	0.2012	M	0.76574	2.34	0.51233	D	0.999916	D;D	0.67145	0.996;0.981	D;P	0.66716	0.946;0.695	T	0.61700	-0.7009	10	0.87932	D	0	-2.6669	12.3513	0.55151	0.0:0.9169:0.0:0.0831	.	376;339	Q59GH4;Q92585	.;MAML1_HUMAN	H	339;376	ENSP00000292599:P339H	ENSP00000292599:P339H	P	+	2	0	MAML1	179125633	0.306000	0.24490	0.024000	0.17045	0.532000	0.34746	5.077000	0.64419	1.061000	0.40601	-0.391000	0.06502	CCC		0.612	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	16	1	0	0.00024832	1	0.000309642	4	16				
KIAA0100	9703	broad.mit.edu	37	17	26961885	26961885	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:26961885C>A	ENST00000528896.2	-	16	2794	c.2720G>T	c.(2719-2721)aGa>aTa	p.R907I	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R764I|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R764I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	907						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TAGCTGTAGTCTTTTGGCACT	0.478																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2719-2721)aGa>aTa		KIAA0100							231.0	251.0	245.0					17																	26961885		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26961885C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2720G>T	17.37:g.26961885C>A	ENSP00000436773:p.Arg907Ile					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R764I|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R764I	p.R907I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	2794	-	Lung NSC(42;0.00431)		907					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.2720G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646225	0.87958	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.60171	0.21;0.27	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.77864	0.4194	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.78700	-0.2102	10	0.87932	D	0	.	20.2456	0.98397	0.0:1.0:0.0:0.0	.	907	Q14667	K0100_HUMAN	I	907;877;907;764	ENSP00000436773:R907I;ENSP00000446443:R764I	ENSP00000005905:R907I	R	-	2	0	KIAA0100	23986012	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.320000	0.79064	2.792000	0.96026	0.557000	0.71058	AGA		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		17	191	1	0	8.60227e-14	1	1.44789e-13	17	191				
SLC45A2	51151	broad.mit.edu	37	5	33984733	33984733	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:33984733G>A	ENST00000296589.4	-	0	102				SLC45A2_ENST00000509381.1_De_novo_Start_OutOfFrame|SLC45A2_ENST00000342059.3_De_novo_Start_OutOfFrame|SLC45A2_ENST00000345083.5_De_novo_Start_OutOfFrame|SLC45A2_ENST00000382102.3_De_novo_Start_OutOfFrame	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CACCTCCTGCGTGGTCCTAGG	0.577																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48								solute carrier family 45, member 2							30.0	32.0	31.0					5																	33984733		2203	4300	6503			51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984733G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.-45C>T	5.37:g.33984733G>A						SLC45A2_ENST00000509381.1_De_novo_Start_OutOfFrame|SLC45A2_ENST00000342059.3_De_novo_Start_OutOfFrame|SLC45A2_ENST00000296589.4_De_novo_Start_OutOfFrame|SLC45A2_ENST00000345083.5_De_novo_Start_OutOfFrame		NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			0	13	-								Q6P2P0|Q9BTM3	Translation_Start_Site	SNP	ENST00000296589.4	37		CCDS3901.1																																																																																				0.577	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		5	42	0	0	0	1	0	5	42				
FAT4	79633	broad.mit.edu	37	4	126336532	126336532	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:126336532A>T	ENST00000394329.3	+	5	6427	c.6414A>T	c.(6412-6414)acA>acT	p.T2138T	FAT4_ENST00000335110.5_Silent_p.T436T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2138	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCATCTACAGAGGTTGTAG	0.398																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6412-6414)acA>acT		FAT atypical cadherin 4							82.0	79.0	80.0					4																	126336532		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336532A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6414A>T	4.37:g.126336532A>T						FAT4_ENST00000335110.5_Silent_p.T436T	p.T2138T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6427	+			2138			Cadherin 20.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6414A>T	CCDS3732.3																																																																																				0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	76	0	0	0	1	0	16	76				
A4GNT	51146	broad.mit.edu	37	3	137849968	137849968	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:137849968G>C	ENST00000236709.3	-	2	332	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	44					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCTCAGGAGGGCTTCCAGCCC	0.542																																						ENST00000236709.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(130-132)gCc>gGc		alpha-1,4-N-acetylglucosaminyltransferase							81.0	83.0	82.0					3																	137849968		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849968G>C	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.131C>G	3.37:g.137849968G>C	ENSP00000236709:p.Ala44Gly						p.A44G	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			2	332	-			44					Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.131C>G	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	G	0.142	-1.101004	0.01843	.	.	ENSG00000118017	ENST00000236709	T	0.81415	-1.49	5.42	-0.558	0.11796	.	1.133060	0.06662	N	0.764561	T	0.59972	0.2233	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39461	-0.9613	10	0.18710	T	0.47	-9.6377	2.4046	0.04409	0.0925:0.2157:0.2514:0.4403	.	44	Q9UNA3	A4GCT_HUMAN	G	44	ENSP00000236709:A44G	ENSP00000236709:A44G	A	-	2	0	A4GNT	139332658	0.242000	0.23868	0.420000	0.26596	0.013000	0.08279	0.362000	0.20284	-0.039000	0.13602	0.561000	0.74099	GCC		0.542	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		7	80	0	0	0	1	0	7	80				
AADACL4	343066	broad.mit.edu	37	1	12726225	12726225	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:12726225T>G	ENST00000376221.1	+	4	703	c.703T>G	c.(703-705)Ttt>Gtt	p.F235V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	235						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTGCCATCCTTTCAGCAGAA	0.512																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(703-705)Ttt>Gtt		arylacetamide deacetylase-like 4							158.0	159.0	159.0					1																	12726225		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726225T>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.703T>G	1.37:g.12726225T>G	ENSP00000365395:p.Phe235Val						p.F235V	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	703	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	235						Missense_Mutation	SNP	ENST00000376221.1	37	c.703T>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553347	0.45487	.	.	ENSG00000204518	ENST00000376221	T	0.58210	0.35	4.23	-6.26	0.02033	Alpha/beta hydrolase fold-3 (1);	1.183400	0.06033	N	0.653418	T	0.30885	0.0779	N	0.12527	0.23	0.09310	N	1	P	0.37276	0.589	B	0.36030	0.216	T	0.40757	-0.9546	10	0.62326	D	0.03	0.1198	9.1804	0.37138	0.0:0.4737:0.112:0.4143	.	235	Q5VUY2	ADCL4_HUMAN	V	235	ENSP00000365395:F235V	ENSP00000365395:F235V	F	+	1	0	AADACL4	12648812	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.569000	0.23638	-1.292000	0.02366	-0.250000	0.11733	TTT		0.512	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		10	92	0	0	0	1	0	10	92				
MARC1	64757	broad.mit.edu	37	1	220978449	220978449	+	Missense_Mutation	SNP	G	G	T	rs375617476		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:220978449G>T	ENST00000366910.5	+	5	995	c.809G>T	c.(808-810)tGt>tTt	p.C270F	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	270	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										GTGATGGCTTGTTCCAGGTAA	0.527																																						ENST00000366910.5																			0											c.(808-810)tGt>tTt		mitochondrial amidoxime reducing component 1		G	PHE/CYS	0,4406		0,0,2203	282.0	237.0	252.0		809	4.2	0.3	1		252	1,8599	1.2+/-3.3	0,1,4299	no	missense	MOSC1	NM_022746.3	205	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	270/338	220978449	1,13005	2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220978449G>T	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.809G>T	1.37:g.220978449G>T	ENSP00000355877:p.Cys270Phe					MARC1_ENST00000496110.1_3'UTR	p.C270F	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN			5	995	+			270			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.809G>T	CCDS1526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.20|18.20	3.571496|3.571496	0.65765|0.65765	0.0|0.0	1.16E-4|1.16E-4	ENSG00000186205|ENSG00000186205	ENST00000366910;ENST00000443880|ENST00000407981	T;T|.	0.41758|.	0.99;0.99|.	5.11|5.11	4.19|4.19	0.49359|0.49359	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);|.	0.364670|.	0.26967|.	N|.	0.021586|.	D|D	0.88051|0.88051	0.6333|0.6333	H|H	0.98682|0.98682	4.3|4.3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.996;0.999|.	D|D	0.91435|0.91435	0.5169|0.5169	10|5	0.87932|.	D|.	0|.	-7.4737|-7.4737	12.4776|12.4776	0.55823|0.55823	0.0:0.0:0.8321:0.1679|0.0:0.0:0.8321:0.1679	.|.	287;270|.	Q5VT66-2;Q5VT66|.	.;MOSC1_HUMAN|.	F|F	270;83|195	ENSP00000355877:C270F;ENSP00000409634:C83F|.	ENSP00000355877:C270F|.	C|L	+|+	2|3	0|2	MOSC1|MOSC1	219045072|219045072	1.000000|1.000000	0.71417|0.71417	0.313000|0.313000	0.25210|0.25210	0.968000|0.968000	0.65278|0.65278	5.343000|5.343000	0.65976|0.65976	1.247000|1.247000	0.43917|0.43917	0.655000|0.655000	0.94253|0.94253	TGT|TTG		0.527	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		11	68	1	0	3.86212e-05	1	5.09224e-05	11	68				
SCN2A	6326	broad.mit.edu	37	2	166245398	166245398	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:166245398G>T	ENST00000375437.2	+	27	5372	c.5082G>T	c.(5080-5082)atG>atT	p.M1694I	SCN2A_ENST00000375427.2_Missense_Mutation_p.M1694I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1694I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1694I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1694					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCGATGACATGTTCAACTTTG	0.448																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5080-5082)atG>atT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						224.0	218.0	220.0					2																	166245398		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245398G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5082G>T	2.37:g.166245398G>T	ENSP00000364586:p.Met1694Ile					SCN2A_ENST00000375427.2_Missense_Mutation_p.M1694I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1694I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1694I	p.M1694I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			27	5372	+			1694					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5082G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440509	0.25900	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	N	0.11756	0.17	0.54753	D	0.999983	B;B	0.23490	0.086;0.004	B;B	0.28011	0.085;0.029	D	0.92105	0.5691	10	0.87932	D	0	.	19.8295	0.96630	0.0:0.0:1.0:0.0	.	1694;1694	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1694	ENSP00000364586:M1694I;ENSP00000349973:M1694I;ENSP00000283256:M1694I;ENSP00000364576:M1694I	ENSP00000283256:M1694I	M	+	3	0	SCN2A	165953644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.314000	0.72848	2.760000	0.94817	0.644000	0.83932	ATG		0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		23	142	1	0	1.9806e-07	1	3.03362e-07	23	142				
CTTNBP2	83992	broad.mit.edu	37	7	117359589	117359589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:117359589C>A	ENST00000160373.3	-	21	4704	c.4613G>T	c.(4612-4614)tGc>tTc	p.C1538F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1538					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTTGCTGGAGCACATGCTCTG	0.468																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4612-4614)tGc>tTc		cortactin binding protein 2							130.0	115.0	120.0					7																	117359589		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117359589C>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4613G>T	7.37:g.117359589C>A	ENSP00000160373:p.Cys1538Phe						p.C1538F	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	21	4704	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1538					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4613G>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339860	0.81911	.	.	ENSG00000077063	ENST00000160373	D	0.81739	-1.53	5.42	5.42	0.78866	.	0.130435	0.64402	D	0.000001	D	0.89653	0.6777	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90179	0.4241	10	0.87932	D	0	.	19.5918	0.95518	0.0:1.0:0.0:0.0	.	1538	Q8WZ74	CTTB2_HUMAN	F	1538	ENSP00000160373:C1538F	ENSP00000160373:C1538F	C	-	2	0	CTTNBP2	117146825	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.683000	0.74533	2.700000	0.92200	0.563000	0.77884	TGC		0.468	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		6	49	1	0	0.0215528	1	0.0230314	6	49				
PROKR1	10887	broad.mit.edu	37	2	68873003	68873003	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:68873003C>A	ENST00000303786.3	+	2	470	c.50C>A	c.(49-51)aCc>aAc	p.T17N	PROKR1_ENST00000394342.2_Missense_Mutation_p.T17N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	17					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AACACTTCCACCAGCTTCCTT	0.522																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(49-51)aCc>aAc		prokineticin receptor 1							219.0	199.0	206.0					2																	68873003		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68873003C>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.50C>A	2.37:g.68873003C>A	ENSP00000303775:p.Thr17Asn					PROKR1_ENST00000394342.2_Missense_Mutation_p.T17N	p.T17N			Q8TCW9	PKR1_HUMAN			2	470	+			17					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.50C>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947948	0.18356	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72051	-0.62;-0.62	5.03	0.823	0.18812	.	0.899489	0.09961	N	0.733375	T	0.60702	0.2289	L	0.52573	1.65	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47086	-0.9144	10	0.27785	T	0.31	.	7.5387	0.27725	0.3125:0.3835:0.304:0.0	.	17	Q8TCW9	PKR1_HUMAN	N	17	ENSP00000303775:T17N;ENSP00000377874:T17N	ENSP00000303775:T17N	T	+	2	0	PROKR1	68726507	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.556000	0.05992	0.357000	0.24183	-0.948000	0.02665	ACC		0.522	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			8	92	1	0	1.12685e-05	1	1.55492e-05	8	92				
OR8B2	26595	broad.mit.edu	37	11	124252580	124252580	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:124252580G>A	ENST00000375013.2	-	1	678	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	220						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.413																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(658-660)ttC>ttT		olfactory receptor, family 8, subfamily B, member 2							105.0	113.0	110.0					11																	124252580		2201	4299	6500	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252580G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.660C>T	11.37:g.124252580G>A							p.F220F	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	678	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	220					Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.660C>T	CCDS31708.1																																																																																				0.413	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		9	92	0	0	0	1	0	9	92				
ZC3H13	23091	broad.mit.edu	37	13	46562942	46562942	+	Missense_Mutation	SNP	C	C	G	rs144528347		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:46562942C>G	ENST00000242848.4	-	9	1583	c.1235G>C	c.(1234-1236)cGa>cCa	p.R412P	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R412P			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	412	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATGGCGTCGATCATGAGA	0.423																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1234-1236)cGa>cCa		zinc finger CCCH-type containing 13							140.0	119.0	126.0					13																	46562942		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46562942C>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1235G>C	13.37:g.46562942C>G	ENSP00000242848:p.Arg412Pro					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R412P	p.R412P			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1583	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	412			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1235G>C		.	.	.	.	.	.	.	.	.	.	C	15.71	2.913743	0.52439	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.36699	2.17;1.24	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000037	T	0.52933	0.1765	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.52298	-0.8594	10	0.66056	D	0.02	.	20.0804	0.97772	0.0:1.0:0.0:0.0	.	412;412	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	P	412;412;228	ENSP00000242848:R412P;ENSP00000282007:R412P	ENSP00000242848:R412P	R	-	2	0	ZC3H13	45460943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.255000	0.72466	2.738000	0.93877	0.655000	0.94253	CGA		0.423	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		4	27	0	0	0	1	0	4	27				
OR1C1	26188	broad.mit.edu	37	1	247920913	247920913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247920913G>A	ENST00000408896.2	-	1	1069	c.796C>T	c.(796-798)Cat>Tat	p.H266Y		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	266					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCAGGCATATGGGGGGATGAA	0.517																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(796-798)Cat>Tat		olfactory receptor, family 1, subfamily C, member 1							81.0	79.0	79.0					1																	247920913		2017	4200	6217	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920913G>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.796C>T	1.37:g.247920913G>A	ENSP00000386138:p.His266Tyr						p.H266Y	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1069	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	266					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.796C>T	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638187	0.00799	.	.	ENSG00000221888	ENST00000408896	T	0.00115	8.71	3.22	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.03084	-0.415	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.08534	-1.0717	9	0.49607	T	0.09	.	6.5348	0.22346	0.326:0.0:0.674:0.0	.	266	Q15619	OR1C1_HUMAN	Y	266	ENSP00000386138:H266Y	ENSP00000386138:H266Y	H	-	1	0	OR1C1	245987536	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.195000	0.09546	0.682000	0.31407	0.591000	0.81541	CAT		0.517	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			10	43	0	0	0	1	0	10	43				
OR8H2	390151	broad.mit.edu	37	11	55872554	55872554	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55872554C>T	ENST00000313503.1	+	1	36	c.36C>T	c.(34-36)gaC>gaT	p.D12D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	12						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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATGTGGCTGACTTCATCCTTA	0.448										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(34-36)gaC>gaT		olfactory receptor, family 8, subfamily H, member 2							222.0	211.0	215.0					11																	55872554		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872554C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.36C>T	11.37:g.55872554C>T		HNSCC(53;0.14)					p.D12D	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	36	+	Esophageal squamous(21;0.00693)		12					Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.36C>T	CCDS31518.1																																																																																				0.448	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		13	170	0	0	0	1	0	13	170				
ZNF613	79898	broad.mit.edu	37	19	52448286	52448286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:52448286A>G	ENST00000293471.6	+	6	1829	c.1150A>G	c.(1150-1152)Aag>Gag	p.K384E	ZNF613_ENST00000391794.4_Missense_Mutation_p.K348E|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	384					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(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTTCATTCAGAAGGGAAATCT	0.413																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1150-1152)Aag>Gag		zinc finger protein 613							92.0	86.0	88.0					19																	52448286		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448286A>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1150A>G	19.37:g.52448286A>G	ENSP00000293471:p.Lys384Glu					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.K348E	p.K384E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1829	+		all_neural(266;0.117)	384					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1150A>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720807	0.48728	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07444	3.19;3.19	3.25	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39687	N	0.001298	T	0.12008	0.0292	M	0.62266	1.93	0.09310	N	1	P	0.49961	0.93	B	0.44224	0.444	T	0.09574	-1.0668	10	0.72032	D	0.01	.	10.9995	0.47596	1.0:0.0:0.0:0.0	.	384	Q6PF04	ZN613_HUMAN	E	384;348;58	ENSP00000293471:K384E;ENSP00000375671:K348E	ENSP00000293471:K384E	K	+	1	0	ZNF613	57140098	0.000000	0.05858	0.996000	0.52242	0.993000	0.82548	0.643000	0.24750	1.493000	0.48517	0.533000	0.62120	AAG		0.413	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		8	62	0	0	0	1	0	8	62				
TTN	7273	broad.mit.edu	37	2	179639863	179639863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179639863G>A	ENST00000591111.1	-	29	6799	c.6575C>T	c.(6574-6576)gCa>gTa	p.A2192V	TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2146V|TTN_ENST00000589042.1_Missense_Mutation_p.A2192V|TTN_ENST00000460472.2_Missense_Mutation_p.A2146V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2192V|TTN_ENST00000360870.5_Missense_Mutation_p.A2192V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2146V			Q8WZ42	TITIN_HUMAN	titin	12518	Ig-like 11.				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)			TTCAAAGGTTGCCATAGTGTC	0.403																																						ENST00000589042.1																			0				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						c.(6574-6576)gCa>gTa		titin							126.0	120.0	122.0					2																	179639863		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639863G>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.6575C>T	2.37:g.179639863G>A	ENSP00000465570:p.Ala2192Val					TTN_ENST00000591111.1_Missense_Mutation_p.A2192V|TTN_ENST00000460472.2_Missense_Mutation_p.A2146V|TTN_ENST00000342175.6_Missense_Mutation_p.A2146V|TTN_ENST00000360870.5_Missense_Mutation_p.A2192V|TTN_ENST00000342992.6_Missense_Mutation_p.A2192V|TTN_ENST00000359218.5_Missense_Mutation_p.A2146V	p.A2192V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	6799	-			1947			Ig-like 11.		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.6575C>T		.	.	.	.	.	.	.	.	.	.	G	14.67	2.605518	0.46527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	4.93	4.93	0.64822	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04272	0.0118	N	0.16602	0.42	0.29650	N	0.844007	B;B;B;B;P	0.46784	0.122;0.122;0.122;0.051;0.884	B;B;B;B;B	0.35470	0.064;0.064;0.064;0.044;0.203	T	0.19679	-1.0298	9	0.87932	D	0	.	18.1399	0.89636	0.0:0.0:1.0:0.0	.	2146;2146;2146;2192;2192	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2192;2146;2146;2146;2146;2192	ENSP00000343764:A2192V;ENSP00000434586:A2146V;ENSP00000340554:A2146V;ENSP00000352154:A2146V;ENSP00000354117:A2192V	ENSP00000340554:A2146V	A	-	2	0	TTN	179348108	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.048000	0.71046	2.287000	0.76781	0.557000	0.71058	GCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	72	0	0	0	1	0	6	72				
PRKDC	5591	broad.mit.edu	37	8	48689409	48689409	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:48689409T>A	ENST00000314191.2	-	86	12231	c.12175A>T	c.(12175-12177)Act>Tct	p.T4059S	PRKDC_ENST00000338368.3_Missense_Mutation_p.T4028S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4060					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)	TCTTACCAAGTAATGACTGCT	0.388								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(12175-12177)Act>Tct	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							108.0	98.0	101.0					8																	48689409		1837	4082	5919	SO:0001583	missense	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.chr8:48689409T>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.12175A>T	8.37:g.48689409T>A	ENSP00000313420:p.Thr4059Ser					PRKDC_ENST00000338368.3_Missense_Mutation_p.T4028S|PRKDC_ENST00000523565.1_5'UTR	p.T4059S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			86	12231	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	4060					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.12175A>T		.	.	.	.	.	.	.	.	.	.	T	20.4	3.985248	0.74474	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02737	4.18;4.19	5.51	5.51	0.81932	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.226336	0.44902	N	0.000414	T	0.08758	0.0217	M	0.81942	2.565	0.51012	D	0.999906	P;D	0.59357	0.82;0.985	P;P	0.48304	0.492;0.573	T	0.18524	-1.0334	10	0.32370	T	0.25	.	14.4863	0.67619	0.0:0.0:0.0:1.0	.	4028;4060	E7EUY0;P78527	.;PRKDC_HUMAN	S	4059;4028	ENSP00000313420:T4059S;ENSP00000345182:T4028S	ENSP00000313420:T4059S	T	-	1	0	PRKDC	48851962	1.000000	0.71417	0.970000	0.41538	0.413000	0.31143	7.633000	0.83260	2.218000	0.71995	0.377000	0.23210	ACT		0.388	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	23	0	0	0	1	0	4	23				
PLS3	5358	broad.mit.edu	37	X	114877687	114877687	+	Silent	SNP	A	A	G	rs113204501	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:114877687A>G	ENST00000420625.2	+	10	1184	c.1050A>G	c.(1048-1050)agA>agG	p.R350R	PLS3_ENST00000539310.1_Silent_p.R305R|PLS3_ENST00000289290.3_Silent_p.R314R|PLS3_ENST00000543070.1_Intron|PLS3_ENST00000537301.1_Silent_p.R337R|PLS3_ENST00000355899.3_Silent_p.R350R	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	350	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TAGGTTGCAGACAGTTTGTTA	0.418													A|||	4	0.0010596	0.003	0.0	3775	,	,		12183	0.0		0.0	False		,,,				2504	0.0				Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(1048-1050)agA>agG		plastin 3		A	,,	3,3832		0,3,1629,571	148.0	114.0	125.0		1050,969,1050	3.2	1.0	X	dbSNP_132	125	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	PLS3	NM_001136025.3,NM_001172335.1,NM_005032.5	,,	0,3,4057,2443	GG,GA,AA,A		0.0,0.0782,0.0284	,,	350/631,323/604,350/631	114877687	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114877687A>G	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1050A>G	X.37:g.114877687A>G						PLS3_ENST00000289290.3_Silent_p.R314R|PLS3_ENST00000543070.1_Intron|PLS3_ENST00000537301.1_Silent_p.R337R|PLS3_ENST00000539310.1_Silent_p.R305R|PLS3_ENST00000355899.3_Silent_p.R350R	p.R350R	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			10	1184	+			350			Actin-binding 1.|CH 2.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Silent	SNP	ENST00000420625.2	37	c.1050A>G	CCDS14568.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	9.856	1.195024	0.22037	7.82E-4	0.0	ENSG00000102024	ENST00000497870	.	.	.	5.72	3.21	0.36854	.	.	.	.	.	T	0.47266	0.1436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35025	-0.9805	4	.	.	.	-17.1666	4.1963	0.10445	0.5825:0.1656:0.2519:0.0	.	.	.	.	A	71	.	.	T	+	1	0	PLS3	114783943	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	0.119000	0.15626	0.797000	0.33971	0.486000	0.48141	ACA		0.418	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			4	24	0	0	0	1	0	4	24				
PTGDR	5729	broad.mit.edu	37	14	52734927	52734927	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:52734927T>G	ENST00000306051.2	+	1	497	c.395T>G	c.(394-396)cTc>cGc	p.L132R	PTGDR_ENST00000553372.1_Missense_Mutation_p.L132R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	132					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GAGTGCTGGCTCTCCCTAGGG	0.622																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(394-396)cTc>cGc		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						118.0	120.0	119.0					14																	52734927		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52734927T>G	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.395T>G	14.37:g.52734927T>G	ENSP00000303424:p.Leu132Arg					PTGDR_ENST00000553372.1_Missense_Mutation_p.L132R	p.L132R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	497	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		132					G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.395T>G	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.267355	0.80469	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.46819	0.86;0.86	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	D	0.000912	T	0.69628	0.3132	M	0.82323	2.585	0.49798	D	0.999822	D	0.89917	1.0	D	0.87578	0.998	T	0.74987	-0.3476	10	0.87932	D	0	-26.089	12.7789	0.57466	0.0:0.0:0.0:1.0	.	132	Q13258	PD2R_HUMAN	R	132	ENSP00000303424:L132R;ENSP00000452408:L132R	ENSP00000303424:L132R	L	+	2	0	PTGDR	51804677	1.000000	0.71417	0.927000	0.36925	0.977000	0.68977	7.931000	0.87625	2.061000	0.61500	0.460000	0.39030	CTC		0.622	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		9	67	0	0	0	1	0	9	67				
TMEM154	201799	broad.mit.edu	37	4	153565595	153565595	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:153565595C>T	ENST00000304385.3	-	4	596		c.e4-1			NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154							integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCAGTTCATCTAAAAGGAAA	0.398																																						ENST00000304385.3																			0				kidney(2)|large_intestine(1)	3						c.e4-1		transmembrane protein 154							119.0	97.0	104.0					4																	153565595		2203	4300	6503	SO:0001630	splice_region_variant	201799					integral to membrane		g.chr4:153565595C>T	AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.365-1G>A	4.37:g.153565595C>T								NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN			4	596	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)						Q8WUT7|Q96MQ8	Splice_Site	SNP	ENST00000304385.3	37		CCDS3779.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296658	0.23650	.	.	ENSG00000170006	ENST00000304385	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8484	0.70277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM154	153785045	1.000000	0.71417	0.978000	0.43139	0.056000	0.15407	4.151000	0.58105	2.644000	0.89710	0.563000	0.77884	.		0.398	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680	Intron	4	17	0	0	0	1	0	4	17				
CEP68	23177	broad.mit.edu	37	2	65299049	65299049	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:65299049C>A	ENST00000377990.2	+	3	1022	c.819C>A	c.(817-819)taC>taA	p.Y273*	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000546106.1_Nonsense_Mutation_p.Y273*|CEP68_ENST00000260569.4_Nonsense_Mutation_p.Y273*|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	273					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGGCTGAGTACTGGGCCTGTG	0.582																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(817-819)taC>taA		centrosomal protein 68kDa							76.0	84.0	81.0					2																	65299049		2203	4300	6503	SO:0001587	stop_gained	23177				centrosome organization	centrosome		g.chr2:65299049C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.819C>A	2.37:g.65299049C>A	ENSP00000367229:p.Tyr273*					CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Nonsense_Mutation_p.Y273*|CEP68_ENST00000546106.1_Nonsense_Mutation_p.Y273*	p.Y273*	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			3	1022	+			273					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Nonsense_Mutation	SNP	ENST00000377990.2	37	c.819C>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819112	0.50633	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	.	.	.	5.79	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4837	13.8323	0.63389	0.0:0.8138:0.0:0.1862	.	.	.	.	X	273;273;273;261	.	ENSP00000260569:Y273X	Y	+	3	2	CEP68	65152553	1.000000	0.71417	0.998000	0.56505	0.052000	0.14988	1.405000	0.34635	0.106000	0.17784	-1.094000	0.02160	TAC		0.582	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		12	74	1	0	6.40141e-05	1	8.33271e-05	12	74				
OLA1	29789	broad.mit.edu	37	2	174943776	174943776	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:174943776C>G	ENST00000409546.1	-	10	1699	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H	OLA1_ENST00000344357.5_Missense_Mutation_p.D179H|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000284719.3_Missense_Mutation_p.D337H|OLA1_ENST00000428402.2_Intron					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTTTCAAAATCTGTGTGAATC	0.348																																						ENST00000284719.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(1009-1011)Gat>Cat		Obg-like ATPase 1							61.0	56.0	58.0					2																	174943776		2203	4299	6502	SO:0001583	missense	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174943776C>G		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.1069G>C	2.37:g.174943776C>G	ENSP00000386350:p.Asp357His					OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000409546.1_Missense_Mutation_p.D357H|OLA1_ENST00000344357.5_Missense_Mutation_p.D179H	p.D337H	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN			10	1255	-			337						Missense_Mutation	SNP	ENST00000409546.1	37	c.1009G>C		.	.	.	.	.	.	.	.	.	.	C	22.0	4.230203	0.79688	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T	0.64991	-0.07;-0.13	6.17	6.17	0.99709	Domain of unknown function DUF933 (1);TGS-like (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	D	0.89863	0.6838	H	0.99609	4.655	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.974;0.991;0.974	D	0.93452	0.6803	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	337;179;337	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	H	337;179;357	ENSP00000284719:D337H;ENSP00000386350:D357H	ENSP00000284719:D337H	D	-	1	0	OLA1	174652022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.941000	0.99782	0.655000	0.94253	GAT		0.348	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		6	17	0	0	0	1	0	6	17				
FBXW7	55294	broad.mit.edu	37	4	153249524	153249524	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:153249524C>A	ENST00000281708.4	-	9	2483	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	FBXW7_ENST00000603548.1_Silent_p.V418V|FBXW7_ENST00000263981.5_Silent_p.V338V|FBXW7_ENST00000296555.5_Silent_p.V300V|FBXW7_ENST00000393956.3_Silent_p.V242V|FBXW7_ENST00000603841.1_Silent_p.V418V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	418					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTATGTCCCACTAATGTTC	0.363			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1252-1254)gtG>gtT		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							252.0	226.0	235.0					4																	153249524		2203	4300	6503	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249524C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1254G>T	4.37:g.153249524C>A						FBXW7_ENST00000263981.5_Silent_p.V338V|FBXW7_ENST00000393956.3_Silent_p.V242V|FBXW7_ENST00000603548.1_Silent_p.V418V|FBXW7_ENST00000603841.1_Silent_p.V418V|FBXW7_ENST00000296555.5_Silent_p.V300V	p.V418V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2483	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	418					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.1254G>T	CCDS3777.1																																																																																				0.363	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			19	119	1	0	5.3912e-06	1	7.62233e-06	19	119				
EYS	346007	broad.mit.edu	37	6	66045008	66045008	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:66045008T>G	ENST00000370621.3	-	11	2157	c.1631A>C	c.(1630-1632)gAa>gCa	p.E544A	EYS_ENST00000370616.2_Missense_Mutation_p.E544A|EYS_ENST00000342421.5_Missense_Mutation_p.E544A|EYS_ENST00000370618.3_Missense_Mutation_p.E544A|EYS_ENST00000503581.1_Missense_Mutation_p.E544A|EYS_ENST00000393380.2_Missense_Mutation_p.E544A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	544					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACTGTCTTCTTCACTCAAACA	0.353																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1630-1632)gAa>gCa		eyes shut homolog (Drosophila)							146.0	134.0	138.0					6																	66045008		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66045008T>G		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1631A>C	6.37:g.66045008T>G	ENSP00000359655:p.Glu544Ala					EYS_ENST00000370618.3_Missense_Mutation_p.E544A|EYS_ENST00000342421.5_Missense_Mutation_p.E544A|EYS_ENST00000393380.2_Missense_Mutation_p.E544A|EYS_ENST00000370621.3_Missense_Mutation_p.E544A|EYS_ENST00000370616.2_Missense_Mutation_p.E544A	p.E544A	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			11	2168	-			544					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1631A>C		.	.	.	.	.	.	.	.	.	.	t	12.15	1.851173	0.32699	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	3.8	3.8	0.43715	.	.	.	.	.	T	0.43122	0.1233	L	0.27053	0.805	0.09310	N	1	B;B;B	0.26809	0.03;0.16;0.099	B;B;B	0.21917	0.025;0.037;0.027	T	0.31081	-0.9956	9	0.06365	T	0.9	.	9.2424	0.37504	0.0:0.0:0.0:1.0	.	544;544;544	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	A	544	ENSP00000424243:E544A;ENSP00000359655:E544A;ENSP00000359650:E544A;ENSP00000377042:E544A;ENSP00000341818:E544A;ENSP00000359652:E544A	ENSP00000341818:E544A	E	-	2	0	EYS	66101729	0.948000	0.32251	0.033000	0.17914	0.016000	0.09150	4.051000	0.57412	1.497000	0.48584	0.402000	0.26972	GAA		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		4	56	0	0	0	1	0	4	56				
PKD1	5310	broad.mit.edu	37	16	2161344	2161344	+	Missense_Mutation	SNP	C	C	A	rs577536178		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:2161344C>A	ENST00000262304.4	-	15	4032	c.3824G>T	c.(3823-3825)gGt>gTt	p.G1275V	PKD1_ENST00000423118.1_Missense_Mutation_p.G1275V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1275	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCCGCACCCACGGTCAC	0.697													c|||	1	0.000199681	0.0	0.0	5008	,	,		14109	0.001		0.0	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3823-3825)gGt>gTt		polycystic kidney disease 1 (autosomal dominant)							11.0	12.0	12.0					16																	2161344		2048	4072	6120	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161344C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3824G>T	16.37:g.2161344C>A	ENSP00000262304:p.Gly1275Val					PKD1_ENST00000423118.1_Missense_Mutation_p.G1275V	p.G1275V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4032	-			1275			PKD 7.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.3824G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	9.933	1.215414	0.22373	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.58652	0.32;0.32	5.84	-6.67	0.01783	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.619934	0.16282	N	0.221313	T	0.38268	0.1034	L	0.38531	1.155	0.09310	N	0.999996	B;B	0.14012	0.009;0.004	B;B	0.20384	0.029;0.02	T	0.20840	-1.0263	10	0.44086	T	0.13	.	8.2178	0.31524	0.0696:0.141:0.5874:0.2019	.	1275;1275	P98161-3;P98161	.;PKD1_HUMAN	V	1275;1275;956	ENSP00000262304:G1275V;ENSP00000399501:G1275V	ENSP00000262304:G1275V	G	-	2	0	PKD1	2101345	0.726000	0.28059	0.000000	0.03702	0.196000	0.23810	0.993000	0.29680	-0.906000	0.03866	0.645000	0.84053	GGT		0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	8	1	0	0.000602214	1	0.000725341	5	8				
CORIN	10699	broad.mit.edu	37	4	47682191	47682191	+	Missense_Mutation	SNP	C	C	A	rs150957535		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:47682191C>A	ENST00000273857.4	-	8	1098	c.1099G>T	c.(1099-1101)Gac>Tac	p.D367Y	CORIN_ENST00000508498.1_Missense_Mutation_p.D228Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D300Y|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000505909.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	367	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCACACAGTCGTGGTCACCA	0.507																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1099-1101)Gac>Tac		corin, serine peptidase							143.0	106.0	119.0					4																	47682191		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47682191C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1099G>T	4.37:g.47682191C>A	ENSP00000273857:p.Asp367Tyr					CORIN_ENST00000508498.1_Missense_Mutation_p.D228Y|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.D300Y|CORIN_ENST00000505909.1_Intron	p.D367Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			8	1098	-			367			LDL-receptor class A 3.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1099G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058829	0.93846	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252	D;D;D	0.99042	-5.36;-5.36;-5.36	5.93	5.93	0.95920	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98156	1.0444	10	0.87932	D	0	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	300;367	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	Y	367;228;300	ENSP00000273857:D367Y;ENSP00000425597:D228Y;ENSP00000424212:D300Y	ENSP00000273857:D367Y	D	-	1	0	CORIN	47376948	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.984000	0.76186	2.803000	0.96430	0.585000	0.79938	GAC		0.507	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	17	1	0	0.00024832	1	0.000309642	4	17				
FMO1	2326	broad.mit.edu	37	1	171251202	171251202	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:171251202G>C	ENST00000354841.4	+	6	1044	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	FMO1_ENST00000402921.2_Missense_Mutation_p.E242Q|FMO1_ENST00000367750.3_Missense_Mutation_p.E305Q|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	305					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AAGCATAAAAGAGGTAAAGGA	0.408																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(913-915)Gag>Cag		flavin containing monooxygenase 1							100.0	93.0	95.0					1																	171251202		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171251202G>C	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.913G>C	1.37:g.171251202G>C	ENSP00000346901:p.Glu305Gln					FMO1_ENST00000367750.3_Missense_Mutation_p.E305Q|FMO1_ENST00000402921.2_Missense_Mutation_p.E242Q|FMO1_ENST00000469112.1_3'UTR	p.E305Q			Q01740	FMO1_HUMAN			6	1044	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		305					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.913G>C	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	9.146	1.015052	0.19355	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.57436	0.4;0.4;0.4	6.16	4.27	0.50696	.	0.291867	0.38837	N	0.001543	T	0.38134	0.1029	M	0.66439	2.03	0.09310	N	0.999997	P;B;B	0.39696	0.683;0.275;0.395	B;P;B	0.45037	0.328;0.467;0.249	T	0.26360	-1.0105	10	0.42905	T	0.14	-14.1232	7.5562	0.27824	0.1362:0.0:0.7275:0.1363	.	242;305;305	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	Q	305;242;305	ENSP00000356724:E305Q;ENSP00000385543:E242Q;ENSP00000346901:E305Q	ENSP00000346901:E305Q	E	+	1	0	FMO1	169517826	1.000000	0.71417	0.860000	0.33809	0.122000	0.20287	2.097000	0.41748	1.609000	0.50190	0.650000	0.86243	GAG		0.408	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		9	40	0	0	0	1	0	9	40				
RASGRP3	25780	broad.mit.edu	37	2	33783350	33783350	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:33783350C>G	ENST00000403687.3	+	16	2392	c.1652C>G	c.(1651-1653)cCc>cGc	p.P551R	RASGRP3_ENST00000407811.1_Missense_Mutation_p.P550R|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Missense_Mutation_p.P551R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	551					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GCCCGGGCGCCCTCCTTGAGC	0.567																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1651-1653)cCc>cGc		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							51.0	53.0	52.0					2																	33783350		1922	4109	6031	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33783350C>G	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1652C>G	2.37:g.33783350C>G	ENSP00000384192:p.Pro551Arg					RASGRP3_ENST00000407811.1_Missense_Mutation_p.P550R|RASGRP3_ENST00000402538.3_Missense_Mutation_p.P551R|AC020594.5_ENST00000437680.1_RNA	p.P551R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			16	2392	+	all_hematologic(175;0.115)		551					D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1652C>G	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112187	0.20795	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.77750	-1.12;-1.12;-1.12	5.14	4.25	0.50352	.	0.541976	0.19900	N	0.103522	T	0.53318	0.1789	N	0.02539	-0.55	0.25168	N	0.990308	B;B	0.17465	0.022;0.022	B;B	0.15484	0.013;0.013	T	0.38972	-0.9636	10	0.24483	T	0.36	-7.4518	13.3836	0.60783	0.0:0.9237:0.0:0.0763	.	550;551	D6W583;Q8IV61	.;GRP3_HUMAN	R	551;551;550	ENSP00000385886:P551R;ENSP00000384192:P551R;ENSP00000383917:P550R	ENSP00000385886:P551R	P	+	2	0	RASGRP3	33636854	0.660000	0.27420	0.978000	0.43139	0.559000	0.35586	3.153000	0.50685	2.537000	0.85549	0.650000	0.86243	CCC		0.567	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		3	16	0	0	0	1	0	3	16				
PCDH15	65217	broad.mit.edu	37	10	55755479	55755479	+	Missense_Mutation	SNP	C	C	G	rs372984970		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:55755479C>G	ENST00000320301.6	-	21	3192	c.2798G>C	c.(2797-2799)gGg>gCg	p.G933A	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G933A|PCDH15_ENST00000409834.1_Missense_Mutation_p.G544A|PCDH15_ENST00000395430.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395432.2_Missense_Mutation_p.G896A|PCDH15_ENST00000437009.1_Missense_Mutation_p.G862A|PCDH15_ENST00000395433.1_Missense_Mutation_p.G911A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G940A|PCDH15_ENST00000373955.1_Missense_Mutation_p.G933A|PCDH15_ENST00000373965.2_Missense_Mutation_p.G940A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G933A|PCDH15_ENST00000414778.1_Missense_Mutation_p.G938A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	933	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCCACCATCCCTTTGTATAT	0.398										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2818-2820)gGg>gCg		protocadherin-related 15							135.0	121.0	126.0					10																	55755479		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55755479C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2798G>C	10.37:g.55755479C>G	ENSP00000322604:p.Gly933Ala	HNSCC(58;0.16)				PCDH15_ENST00000395438.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395433.1_Missense_Mutation_p.G911A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G933A|PCDH15_ENST00000395430.1_Missense_Mutation_p.G933A|PCDH15_ENST00000395445.1_Missense_Mutation_p.G940A|PCDH15_ENST00000437009.1_Missense_Mutation_p.G862A|PCDH15_ENST00000361849.3_Missense_Mutation_p.G933A|PCDH15_ENST00000395432.2_Missense_Mutation_p.G896A|PCDH15_ENST00000409834.1_Missense_Mutation_p.G544A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G938A	p.G940A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			22	3213	-		Melanoma(3;0.117)|Lung SC(717;0.238)	933			Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2819G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617714	0.28801	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.59083	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;0.29	5.93	5.03	0.67393	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.54062	0.1835	N	0.05351	-0.065	0.80722	D	1	D;D;D;P;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.846;1.0;1.0;1.0;1.0;1.0;1.0;0.972;1.0;0.993;0.998	D;D;D;P;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.992;0.987;0.759;1.0;0.994;1.0;0.998;1.0;0.998;0.928;0.996;0.946;0.98	T	0.51529	-0.8694	9	0.09338	T	0.73	.	14.7413	0.69458	0.0:0.9303:0.0:0.0697	.	911;933;933;938;862;896;933;933;940;940;933;938;933;933	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	940;938;933;933;544;940;896;933;911;933;933;938;862;933	ENSP00000363076:G940A;ENSP00000410304:G938A;ENSP00000378826:G933A;ENSP00000386693:G544A;ENSP00000378832:G940A;ENSP00000378820:G896A;ENSP00000354950:G933A;ENSP00000378821:G911A;ENSP00000322604:G933A;ENSP00000378818:G933A;ENSP00000412628:G862A;ENSP00000363066:G933A	ENSP00000322604:G933A	G	-	2	0	PCDH15	55425485	1.000000	0.71417	0.984000	0.44739	0.117000	0.20001	7.096000	0.76960	1.512000	0.48834	-0.136000	0.14681	GGG		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		8	41	0	0	0	1	0	8	41				
KEL	3792	broad.mit.edu	37	7	142637649	142637649	+	IGR	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142637649A>C	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.Q140P	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAAATATCCAACTCTGCTTC	0.542																																						ENST00000409607.3																			0				large_intestine(1)|lung(4)	5						c.(418-420)cAa>cCa		chromosome 7 open reading frame 34							197.0	167.0	177.0					7																	142637649		2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142637649A>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142637649A>C							p.Q140P	NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN			2	460	+	Melanoma(164;0.059)		115					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.419A>C	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	a	2.365	-0.345716	0.05208	.	.	ENSG00000165131	ENST00000409607	.	.	.	4.52	2.08	0.27032	.	0.783367	0.10437	N	0.674819	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.21075	-1.0256	9	0.46703	T	0.11	-0.0963	6.3301	0.21264	0.7979:0.0:0.2021:0.0	.	115	Q96L11	CG034_HUMAN	P	140	.	ENSP00000386450:Q140P	Q	+	2	0	C7orf34	142347771	0.689000	0.27690	0.000000	0.03702	0.001000	0.01503	1.411000	0.34702	0.336000	0.23639	0.529000	0.55759	CAA		0.542	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		8	62	0	0	0	1	0	8	62				
RPTN	126638	broad.mit.edu	37	1	152129375	152129375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152129375C>A	ENST00000316073.3	-	3	264	c.200G>T	c.(199-201)gGa>gTa	p.G67V		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATCAATATGTCCATCTCGGTC	0.433																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(199-201)gGa>gTa		repetin							185.0	156.0	165.0					1																	152129375		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152129375C>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.200G>T	1.37:g.152129375C>A	ENSP00000317895:p.Gly67Val						p.G67V	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	264	-			67			EF-hand 2.|S-100-like (By similarity).		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.200G>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558230	0.27827	.	.	ENSG00000215853	ENST00000316073	T	0.17054	2.3	5.03	1.62	0.23740	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.28366	0.0701	M	0.90369	3.11	0.37425	D	0.913795	D	0.67145	0.996	P	0.61940	0.896	T	0.12604	-1.0541	9	0.59425	D	0.04	-9.3088	7.3386	0.26623	0.0:0.6666:0.0:0.3334	.	67	Q6XPR3	RPTN_HUMAN	V	67	ENSP00000317895:G67V	ENSP00000317895:G67V	G	-	2	0	RPTN	150395999	0.268000	0.24133	0.452000	0.26994	0.056000	0.15407	0.645000	0.24782	0.526000	0.28541	0.542000	0.68232	GGA		0.433	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		14	87	1	0	9.31168e-06	1	1.29658e-05	14	87				
MGAT4C	25834	broad.mit.edu	37	12	86373324	86373324	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:86373324C>A	ENST00000604798.1	-	8	2384	c.1180G>T	c.(1180-1182)Gta>Tta	p.V394L	MGAT4C_ENST00000552808.2_Missense_Mutation_p.V394L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.V423L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.V394L			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	394					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCAGTATTTACtttaattttt	0.348																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1180-1182)Gta>Tta		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							38.0	39.0	38.0					12																	86373324		2203	4298	6501	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373324C>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1180G>T	12.37:g.86373324C>A	ENSP00000474896:p.Val394Leu					MGAT4C_ENST00000393205.2_Missense_Mutation_p.V423L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.V394L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.V394L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.V394L	p.V394L			Q9UBM8	MGT4C_HUMAN			8	2384	-			394					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.1180G>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845607	0.51164	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.53423	1.27;1.26;1.27;1.27;1.27;0.62	5.76	5.76	0.90799	.	0.133483	0.50627	N	0.000113	T	0.46870	0.1415	L	0.60455	1.87	0.43977	D	0.996665	P;P	0.38922	0.651;0.651	B;B	0.33392	0.163;0.163	T	0.47971	-0.9075	10	0.45353	T	0.12	-10.8369	19.9607	0.97248	0.0:1.0:0.0:0.0	.	423;394	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	L	394;423;394;394;394;394;394	ENSP00000331664:V394L;ENSP00000376900:V423L;ENSP00000449022:V394L;ENSP00000446647:V394L;ENSP00000447253:V394L;ENSP00000449172:V394L	ENSP00000331664:V394L	V	-	1	0	MGAT4C	84897455	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.739000	0.62080	2.713000	0.92767	0.585000	0.79938	GTA		0.348	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		4	29	1	0	0.150653	1	0.155562	4	29				
FMN2	56776	broad.mit.edu	37	1	240370353	240370353	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:240370353C>A	ENST00000319653.9	+	5	2471	c.2241C>A	c.(2239-2241)tcC>tcA	p.S747S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACAGACTTCCCCCACGGAAG	0.567																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2239-2241)tcC>tcA		formin 2							47.0	46.0	46.0					1																	240370353		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370353C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2241C>A	1.37:g.240370353C>A							p.S747S	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2471	+	Ovarian(103;0.127)	all_cancers(173;0.013)	747					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2241C>A	CCDS31069.2																																																																																				0.567	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	21	1	0	2.7689e-08	1	4.35722e-08	7	21				
PDCL3	79031	broad.mit.edu	37	2	101185443	101185443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:101185443G>A	ENST00000264254.6	+	3	562	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	62					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(184-186)Gag>Aag		phosducin-like 3							113.0	111.0	112.0					2																	101185443		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101185443G>A	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.184G>A	2.37:g.101185443G>A	ENSP00000264254:p.Glu62Lys						p.E62K	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			3	562	+			62					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.184G>A	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.084862	0.36758	.	.	ENSG00000115539	ENST00000264254;ENST00000416255	T	0.34275	1.37	4.87	3.99	0.46301	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	0.049522	0.85682	N	0.000000	T	0.60235	0.2253	M	0.91406	3.205	0.80722	D	1	D	0.71674	0.998	D	0.63283	0.913	T	0.67628	-0.5622	10	0.10111	T	0.7	-14.0308	13.4437	0.61127	0.0766:0.0:0.9234:0.0	.	62	Q9H2J4	PDCL3_HUMAN	K	62;12	ENSP00000264254:E62K	ENSP00000264254:E62K	E	+	1	0	PDCL3	100551875	1.000000	0.71417	0.918000	0.36340	0.059000	0.15707	9.640000	0.98453	1.177000	0.42855	-0.266000	0.10368	GAG		0.363	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		4	45	0	0	0	1	0	4	45				
METTL13	51603	broad.mit.edu	37	1	171753398	171753398	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:171753398G>A	ENST00000361735.3	+	2	938	c.672G>A	c.(670-672)gaG>gaA	p.E224E	METTL13_ENST00000362019.3_Silent_p.E138E|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Silent_p.E223E	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	224							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGATCTTTGAGCTGTGTGCTC	0.612																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(670-672)gaG>gaA		methyltransferase like 13							52.0	55.0	54.0					1																	171753398		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171753398G>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.672G>A	1.37:g.171753398G>A						METTL13_ENST00000458517.1_Silent_p.E223E|METTL13_ENST00000362019.3_Silent_p.E138E|METTL13_ENST00000367737.5_Intron	p.E224E	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			2	938	+			224					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.672G>A	CCDS1299.1																																																																																				0.612	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		5	47	0	0	0	1	0	5	47				
ACE	1636	broad.mit.edu	37	17	61566339	61566339	+	Nonsense_Mutation	SNP	C	C	G	rs35580653	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:61566339C>G	ENST00000290866.4	+	17	2511	c.2487C>G	c.(2485-2487)taC>taG	p.Y829*	ACE_ENST00000428043.1_Nonsense_Mutation_p.Y829*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y255*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y255*|ACE_ENST00000577647.1_Nonsense_Mutation_p.Y255*|ACE_ENST00000413513.3_Nonsense_Mutation_p.Y255*|ACE_ENST00000421982.2_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	829	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTCTATGTACGAGACACCAT	0.607																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(763-765)taC>taG		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						98.0	90.0	93.0					17																	61566339		2203	4300	6503	SO:0001587	stop_gained	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566339C>G	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2487C>G	17.37:g.61566339C>G	ENSP00000290866:p.Tyr829*					ACE_ENST00000413513.3_Nonsense_Mutation_p.Y255*|ACE_ENST00000421982.2_Intron|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y255*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y255*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Y829*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y829*	p.Y255*			P12821	ACE_HUMAN			6	810	+			829			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Nonsense_Mutation	SNP	ENST00000290866.4	37	c.765C>G	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019119	0.75275	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	.	.	.	5.57	-10.9	0.00192	.	0.120802	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.7928	19.529	0.95219	0.0:0.2021:0.0:0.7979	.	.	.	.	X	829;829;255;255	.	ENSP00000290863:Y255X	Y	+	3	2	ACE	58920071	0.001000	0.12720	0.002000	0.10522	0.674000	0.39518	-1.522000	0.02237	-2.120000	0.00826	-0.459000	0.05422	TAC		0.607	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			4	41	0	0	0	1	0	4	41				
KIAA1614	57710	broad.mit.edu	37	1	180885891	180885891	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:180885891C>G	ENST00000367588.4	+	2	707	c.652C>G	c.(652-654)Ccc>Gcc	p.P218A		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	218										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TGGAGTTACTCCCGGACGGCC	0.582																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(652-654)Ccc>Gcc		KIAA1614							129.0	138.0	135.0					1																	180885891		1949	4124	6073	SO:0001583	missense	57710							g.chr1:180885891C>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.652C>G	1.37:g.180885891C>G	ENSP00000356560:p.Pro218Ala						p.P218A	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	707	+			218					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.652C>G	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752205	0.15778	.	.	ENSG00000135835	ENST00000367588	T	0.05513	3.43	4.57	0.429	0.16506	.	0.000000	0.36703	N	0.002455	T	0.02571	0.0078	N	0.14661	0.345	0.24800	N	0.992702	B	0.09022	0.002	B	0.12837	0.008	T	0.45234	-0.9275	9	0.05721	T	0.95	-4.1732	5.2663	0.15601	0.0:0.5789:0.1541:0.267	.	218	Q5VZ46	K1614_HUMAN	A	218	ENSP00000356560:P218A	ENSP00000356560:P218A	P	+	1	0	KIAA1614	179152514	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.152000	0.10159	0.173000	0.19788	-0.219000	0.12488	CCC		0.582	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		20	93	0	0	0	1	0	20	93				
NPFFR2	10886	broad.mit.edu	37	4	73013189	73013189	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:73013189A>T	ENST00000308744.6	+	4	1327	c.1229A>T	c.(1228-1230)cAg>cTg	p.Q410L	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q311L|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q308L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	410					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AATGAACTGCAGATCATCAAC	0.468																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1228-1230)cAg>cTg		neuropeptide FF receptor 2							109.0	103.0	105.0					4																	73013189		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013189A>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1229A>T	4.37:g.73013189A>T	ENSP00000307822:p.Gln410Leu					NPFFR2_ENST00000395999.1_Missense_Mutation_p.Q311L|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Q308L|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	p.Q410L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1327	+			410					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1229A>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	A	6.990	0.552737	0.13374	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.35048	1.33;1.33;1.33	5.91	-4.15	0.03881	GPCR, rhodopsin-like superfamily (1);	0.948035	0.08774	N	0.895879	T	0.24736	0.0600	L	0.28274	0.84	0.09310	N	1	B;B	0.21821	0.016;0.061	B;B	0.29440	0.043;0.102	T	0.39921	-0.9590	10	0.11794	T	0.64	.	14.3068	0.66389	0.7174:0.0:0.2826:0.0	.	311;410	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	410;311;308	ENSP00000307822:Q410L;ENSP00000379321:Q311L;ENSP00000351599:Q308L	ENSP00000307822:Q410L	Q	+	2	0	NPFFR2	73232053	0.015000	0.18098	0.000000	0.03702	0.003000	0.03518	0.226000	0.17776	-0.864000	0.04078	-0.408000	0.06270	CAG		0.468	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		12	68	0	0	0	1	0	12	68				
NEURL2	140825	broad.mit.edu	37	20	44519404	44519404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:44519404C>A	ENST00000372518.4	-	1	522	c.227G>T	c.(226-228)gGc>gTc	p.G76V	CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	76	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TCCGCACCAGCCCAGCTCTTT	0.682																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(226-228)gGc>gTc		neuralized E3 ubiquitin protein ligase 2							22.0	28.0	26.0					20																	44519404		2202	4298	6500	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519404C>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.227G>T	20.37:g.44519404C>A	ENSP00000361596:p.Gly76Val						p.G76V	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			1	522	-		Myeloproliferative disorder(115;0.0122)	76			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.227G>T	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588697	0.86851	.	.	ENSG00000124257	ENST00000372518	T	0.49139	0.79	4.83	4.83	0.62350	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.69860	0.3158	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.71659	-0.4526	9	.	.	.	-35.3616	18.1275	0.89590	0.0:1.0:0.0:0.0	.	76	Q9BR09	NEUL2_HUMAN	V	76	ENSP00000361596:G76V	.	G	-	2	0	NEURL2	43952811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.334000	0.65923	2.514000	0.84764	0.561000	0.74099	GGC		0.682	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			7	15	1	0	0.00198382	1	0.00230193	7	15				
PPIP5K2	23262	broad.mit.edu	37	5	102493941	102493941	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:102493941T>C	ENST00000358359.3	+	15	2048	c.1539T>C	c.(1537-1539)ggT>ggC	p.G513G	PPIP5K2_ENST00000321521.9_Silent_p.G513G|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Silent_p.G513G	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	513					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGGGGAGGTGAATTAACTC	0.378																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1537-1539)ggT>ggC		diphosphoinositol pentakisphosphate kinase 2							72.0	77.0	75.0					5																	102493941		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102493941T>C	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1539T>C	5.37:g.102493941T>C						PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.G513G|PPIP5K2_ENST00000414217.1_Silent_p.G513G	p.G513G			O43314	VIP2_HUMAN			15	2112	+			513					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.1539T>C																																																																																					0.378	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		3	21	0	0	0	1	0	3	21				
VIM	7431	broad.mit.edu	37	10	17277252	17277252	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:17277252C>T	ENST00000224237.5	+	6	1238	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	VIM_ENST00000544301.1_Silent_p.L365L|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	365	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATTGGCCGCCTGCAGGATGA	0.488																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1093-1095)Ctg>Ttg		vimentin							142.0	126.0	131.0					10																	17277252		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277252C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1093C>T	10.37:g.17277252C>T						VIM_ENST00000224237.5_Silent_p.L365L	p.L365L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1506	+			365			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.1093C>T	CCDS7120.1																																																																																				0.488	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		10	63	0	0	0	1	0	10	63				
FSCB	84075	broad.mit.edu	37	14	44976261	44976261	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:44976261C>T	ENST00000340446.4	-	0	221				RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein							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)		AGAGTCATCACTTTCTTCCAT	0.373																																						ENST00000340446.4																			0				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								fibrous sheath CABYR binding protein																																						84075					cilium		g.chr14:44976261C>T	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.-71G>A	14.37:g.44976261C>T								NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	221	-								Q5H9U7|Q86YI2|Q9H0J3	Translation_Start_Site	SNP	ENST00000340446.4	37		CCDS9679.1																																																																																				0.373	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		11	46	0	0	0	1	0	11	46				
OR2F2	135948	broad.mit.edu	37	7	143632476	143632476	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:143632476C>A	ENST00000408955.2	+	1	218	c.151C>A	c.(151-153)Ctg>Atg	p.L51M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	51						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)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCTGATCAGACTGGACAGCCG	0.517																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(151-153)Ctg>Atg		olfactory receptor, family 2, subfamily F, member 2							226.0	216.0	220.0					7																	143632476		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632476C>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.151C>A	7.37:g.143632476C>A	ENSP00000386222:p.Leu51Met						p.L51M	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	218	+	Melanoma(164;0.0903)		51					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.151C>A	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423039	0.43020	.	.	ENSG00000221910	ENST00000408955	T	0.03065	4.06	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.181563	0.26780	N	0.022536	T	0.08980	0.0222	L	0.41415	1.275	0.26866	N	0.967858	D	0.89917	1.0	D	0.91635	0.999	T	0.08472	-1.0720	10	0.40728	T	0.16	-9.9642	6.8502	0.24010	0.0:0.8721:0.0:0.1279	.	51	O95006	OR2F2_HUMAN	M	51	ENSP00000386222:L51M	ENSP00000386222:L51M	L	+	1	2	OR2F2	143263409	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	-0.415000	0.07106	1.937000	0.56155	0.491000	0.48974	CTG		0.517	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			7	160	1	0	0.00198382	1	0.00230193	7	160				
MUC2	4583	broad.mit.edu	37	11	1093908	1093908	+	Silent	SNP	G	G	A	rs202018386		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:1093908G>A	ENST00000441003.2	+	30	5754	c.5727G>A	c.(5725-5727)ccG>ccA	p.P1909P	MUC2_ENST00000333592.6_Silent_p.P197P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4271					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTCTCCACCGCCCAGCACCA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17478	0.0		0.0	False		,,,				2504	0.001					ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5725-5727)ccG>ccA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	G		2,4370		0,2,2184	77.0	105.0	95.0		5712	-2.2	0.0	11		95	10,8532		0,10,4261	no	coding-synonymous	MUC2	NM_002457.2		0,12,6445	AA,AG,GG		0.1171,0.0457,0.0929		1904/2813	1093908	12,12902	2186	4271	6457	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093908G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5727G>A	11.37:g.1093908G>A						MUC2_ENST00000333592.6_Silent_p.P197P|MUC2_ENST00000361558.6_Intron	p.P1909P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	5754	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1935					Q14878	Silent	SNP	ENST00000441003.2	37	c.5727G>A																																																																																					0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	46	0	0	0	1	0	6	46				
LRRC37A6P	387646	broad.mit.edu	37	10	27535850	27535850	+	lincRNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:27535850G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TGCAGTCCCAGCGGAATCTGC	0.458																																						ENST00000574842.1																			0																																																			387646							g.chr10:27535850G>T																													10.37:g.27535850G>T														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.458	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			4	67	1	0	0.00909568	1	0.00998677	4	67				
ACRC	93953	broad.mit.edu	37	X	70823983	70823983	+	Missense_Mutation	SNP	G	G	A	rs370834908		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:70823983G>A	ENST00000373695.1	+	7	1393	c.856G>A	c.(856-858)Gac>Aac	p.D286N	ACRC_ENST00000373696.3_Missense_Mutation_p.D286N			Q96QF7	ACRC_HUMAN	acidic repeat containing	286	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.547													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14800	0.0		0.0	False		,,,				2504	0.0					ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(856-858)Gac>Aac		acidic repeat containing		G	ASN/ASP	1,3834		0,1,1631,571	110.0	107.0	108.0		856	0.1	0.0	X		108	0,6728		0,0,2428,1872	no	missense	ACRC	NM_052957.4	23	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	286/692	70823983	1,10562	2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823983G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.856G>A	X.37:g.70823983G>A	ENSP00000362799:p.Asp286Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.D286N	p.D286N			Q96QF7	ACRC_HUMAN			7	1393	+	Renal(35;0.156)		286			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.856G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857850	0.32791	2.61E-4	0.0	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.35236	1.32;1.32	0.14	0.14	0.14804	.	.	.	.	.	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B	0.29571	0.249	B	0.10450	0.005	T	0.15723	-1.0427	9	0.29301	T	0.29	.	5.9727	0.19361	6.0E-4:0.0:0.9994:0.0	.	286	Q96QF7	ACRC_HUMAN	N	286	ENSP00000362800:D286N;ENSP00000362799:D286N	ENSP00000362799:D286N	D	+	1	0	ACRC	70740708	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.256000	0.18351	0.168000	0.19655	0.169000	0.16792	GAC		0.547	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			32	71	0	0	0	1	0	32	71				
KMT2E	55904	broad.mit.edu	37	7	104717782	104717782	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104717782A>G	ENST00000311117.3	+	11	1577	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K	KMT2E_ENST00000257745.4_Silent_p.K344K|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Silent_p.K344K|KMT2E_ENST00000334877.4_Silent_p.K344K	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	344	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AAATTCTTAAATCTGCAAAAG	0.299																																						ENST00000334877.4																			0											c.(1030-1032)aaA>aaG		lysine (K)-specific methyltransferase 2E							38.0	40.0	39.0					7																	104717782		2202	4293	6495	SO:0001819	synonymous_variant	55904							g.chr7:104717782A>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1032A>G	7.37:g.104717782A>G						KMT2E_ENST00000257745.4_Silent_p.K344K|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Silent_p.K344K|KMT2E_ENST00000311117.3_Silent_p.K344K	p.K344K							11	1566	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.1032A>G	CCDS34723.1																																																																																				0.299	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			4	34	0	0	0	1	0	4	34				
SIGLEC11	114132	broad.mit.edu	37	19	50462124	50462124	+	Missense_Mutation	SNP	G	G	C	rs149136670	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50462124G>C	ENST00000447370.2	-	7	1229	c.1139C>G	c.(1138-1140)cCg>cGg	p.P380R	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P380R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	380	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P368R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGGACCGGGAGGGATGT	0.672													G|||	11	0.00219649	0.0061	0.0043	5008	,	,		16499	0.0		0.0	False		,,,				2504	0.0					ENST00000447370.2																			1	Substitution - Missense(1)	p.P368R(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1138-1140)cCg>cGg		sialic acid binding Ig-like lectin 11		G	ARG/PRO,ARG/PRO	9,4397		0,9,2194	32.0	37.0	35.0		1139,1139	2.2	0.0	19	dbSNP_134	35	9,8591		0,9,4291	no	missense,missense	SIGLEC11	NM_001135163.1,NM_052884.2	103,103	0,18,6485	CC,CG,GG		0.1047,0.2043,0.1384	benign,benign	380/603,380/699	50462124	18,12988	2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462124G>C	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1139C>G	19.37:g.50462124G>C	ENSP00000412361:p.Pro380Arg					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.P380R	p.P380R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1229	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	380			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1139C>G	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.80|10.80	1.451864|1.451864	0.26074|0.26074	0.002043|0.002043	0.001047|0.001047	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.08984|.	3.03|.	3.24|3.24	2.15|2.15	0.27550|0.27550	Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.767760|.	0.02491|.	N|.	0.089519|.	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.41632|0.41632	1.29|1.29	0.09310|0.09310	N|N	1|1	P;B|.	0.35411|.	0.5;0.374|.	B;B|.	0.37888|.	0.26;0.199|.	T|T	0.22556|0.22556	-1.0213|-1.0213	10|5	0.48119|.	T|.	0.1|.	.|.	8.0853|8.0853	0.30769|0.30769	0.0:0.0:0.7569:0.2431|0.0:0.0:0.7569:0.2431	.|.	380;380|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	R|G	380|370	ENSP00000412361:P380R|.	ENSP00000412361:P380R|.	P|R	-|-	2|1	0|2	SIGLEC11|SIGLEC11	55153936|55153936	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.278000|0.278000	0.26855|0.26855	0.153000|0.153000	0.16323|0.16323	0.609000|0.609000	0.30018|0.30018	0.556000|0.556000	0.70494|0.70494	CCG|CGG		0.672	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	52	0	0	0	1	0	5	52				
LRP1B	53353	broad.mit.edu	37	2	141115556	141115556	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:141115556C>A	ENST00000389484.3	-	74	12358	c.11387G>T	c.(11386-11388)tGc>tTc	p.C3796F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3796	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		ACCTATTCTGCATCCTTGCTC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(11386-11388)tGc>tTc		low density lipoprotein receptor-related protein 1B							143.0	133.0	136.0					2																	141115556		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115556C>A	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.11387G>T	2.37:g.141115556C>A	ENSP00000374135:p.Cys3796Phe	TSP Lung(27;0.18)					p.C3796F	NM_018557.2	NP_061027.2	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)	74	12358	-		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)	3796			LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11387G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.999146|3.999146	0.74818|0.74818	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.99919	.|-8.0	5.82|5.82	4.94|4.94	0.65067|0.65067	.|Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	.|0.123349	.|0.56097	.|D	.|0.000028	D|D	0.99939|0.99939	0.9973|0.9973	H|H	0.98068|0.98068	4.14|4.14	0.54753|0.54753	D|D	0.999981|0.999981	.|D	.|0.58970	.|0.984	.|P	.|0.62184	.|0.899	D|D	0.96067|0.96067	0.9043|0.9043	5|10	.|0.54805	.|T	.|0.06	.|.	15.0108|15.0108	0.71547|0.71547	0.0:0.9317:0.0:0.0683|0.0:0.9317:0.0:0.0683	.|.	.|3796	.|Q9NZR2	.|LRP1B_HUMAN	S|F	28|3796;3734	.|ENSP00000374135:C3796F	.|ENSP00000374135:C3796F	A|C	-|-	1|2	0|0	LRP1B|LRP1B	140832026|140832026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.487000|7.487000	0.81328|0.81328	1.467000|1.467000	0.48044|0.48044	0.650000|0.650000	0.86243|0.86243	GCA|TGC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	52	1	0	0.00116845	1	0.00137844	6	52				
GRM5	2915	broad.mit.edu	37	11	88300970	88300970	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:88300970C>A	ENST00000305447.4	-	7	2030	c.1881G>T	c.(1879-1881)ctG>ctT	p.L627L	GRM5_ENST00000393297.1_Silent_p.L627L|GRM5_ENST00000455756.2_Silent_p.L627L|GRM5_ENST00000418177.2_Silent_p.L627L|GRM5_ENST00000305432.5_Silent_p.L627L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	627					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATAAGTAGCCCAGGCAGATGC	0.478																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1879-1881)ctG>ctT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						101.0	91.0	94.0					11																	88300970		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300970C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1881G>T	11.37:g.88300970C>A						GRM5_ENST00000393297.1_Silent_p.L627L|GRM5_ENST00000455756.2_Silent_p.L627L|GRM5_ENST00000305447.4_Silent_p.L627L|GRM5_ENST00000305432.5_Silent_p.L627L	p.L627L			P41594	GRM5_HUMAN			8	2248	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	627					Q6J164	Silent	SNP	ENST00000305447.4	37	c.1881G>T	CCDS44694.1																																																																																				0.478	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		12	36	1	0	7.03913e-09	1	1.12308e-08	12	36				
DDX59	83479	broad.mit.edu	37	1	200628172	200628172	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:200628172T>C	ENST00000331314.6	-	4	1258	c.1045A>G	c.(1045-1047)Att>Gtt	p.I349V	DDX59_ENST00000367348.3_Missense_Mutation_p.I349V|DDX59_ENST00000447706.2_Missense_Mutation_p.I349V	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	349	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTACCACAATCTTTACACCA	0.308																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1045-1047)Att>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							121.0	132.0	128.0					1																	200628172		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200628172T>C	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1045A>G	1.37:g.200628172T>C	ENSP00000330460:p.Ile349Val					DDX59_ENST00000331314.6_Missense_Mutation_p.I349V|DDX59_ENST00000367348.3_Missense_Mutation_p.I349V	p.I349V			Q5T1V6	DDX59_HUMAN			4	1196	-			349			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1045A>G	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	T	1.757	-0.487794	0.04352	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.14391	2.51;2.51;2.51	5.74	4.62	0.57501	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.105420	0.64402	D	0.000005	T	0.05181	0.0138	N	0.02412	-0.56	0.43214	D	0.995087	B;B	0.23854	0.092;0.092	B;B	0.20577	0.03;0.03	T	0.33420	-0.9869	10	0.10902	T	0.67	-16.6859	11.5262	0.50582	0.0:0.0699:0.0:0.9301	.	349;349	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	V	349	ENSP00000394367:I349V;ENSP00000356317:I349V;ENSP00000330460:I349V	ENSP00000330460:I349V	I	-	1	0	DDX59	198894795	1.000000	0.71417	0.334000	0.25495	0.281000	0.26958	2.192000	0.42649	1.011000	0.39340	0.528000	0.53228	ATT		0.308	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		11	63	0	0	0	1	0	11	63				
SI	6476	broad.mit.edu	37	3	164735340	164735340	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:164735340G>C	ENST00000264382.3	-	31	3817	c.3755C>G	c.(3754-3756)cCc>cGc	p.P1252R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1252	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACATACATAGGGGATGTTAGC	0.328										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3754-3756)cCc>cGc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						55.0	53.0	54.0					3																	164735340		2203	4297	6500	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735340G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3755C>G	3.37:g.164735340G>C	ENSP00000264382:p.Pro1252Arg	HNSCC(35;0.089)					p.P1252R	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			31	3817	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1252			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3755C>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073890	0.55646	.	.	ENSG00000090402	ENST00000264382	D	0.96011	-3.88	5.31	5.31	0.75309	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98817	0.9601	H	0.98295	4.195	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99327	1.0908	10	0.87932	D	0	.	19.1642	0.93548	0.0:0.0:1.0:0.0	.	1252	P14410	SUIS_HUMAN	R	1252	ENSP00000264382:P1252R	ENSP00000264382:P1252R	P	-	2	0	SI	166218034	1.000000	0.71417	0.972000	0.41901	0.065000	0.16274	8.628000	0.90979	2.758000	0.94735	0.591000	0.81541	CCC		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	35	0	0	0	1	0	4	35				
CIT	11113	broad.mit.edu	37	12	120128040	120128040	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:120128040C>G	ENST00000261833.7	-	46	6028	c.5976G>C	c.(5974-5976)cgG>cgC	p.R1992R	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.R2034R	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1992					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCCCGGGGGACCGCTCTCTCC	0.706																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(6100-6102)cgG>cgC		citron (rho-interacting, serine/threonine kinase 21)							12.0	14.0	13.0					12																	120128040		2155	4247	6402	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120128040C>G	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5976G>C	12.37:g.120128040C>G						CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.R1992R	p.R2034R	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	47	6157	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1992					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.6102G>C	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300820	0.23650	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.4	-3.29	0.05017	.	.	.	.	.	T	0.68906	0.3052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70382	-0.4887	4	.	.	.	.	18.425	0.90606	0.0:0.2479:0.6935:0.0586	.	.	.	.	A	1605	.	.	G	-	2	0	CIT	118612423	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	0.742000	0.26216	-0.474000	0.06862	0.655000	0.94253	GGT		0.706	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		4	10	0	0	0	1	0	4	10				
ALB	213	broad.mit.edu	37	4	74274354	74274354	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:74274354G>T	ENST00000295897.4	+	4	403	c.314G>T	c.(313-315)cGt>cTt	p.R105L	ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R105L	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAACTCTTCGTGAAACCTAT	0.423																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(313-315)cGt>cTt		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						92.0	85.0	88.0					4																	74274354		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274354G>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.314G>T	4.37:g.74274354G>T	ENSP00000295897:p.Arg105Leu					ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R105L|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000505649.1_Intron	p.R105L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	403	+	Breast(15;0.00102)		105			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.314G>T	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967486	0.34754	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.71817	-0.6;-0.6;-0.6	6.04	3.36	0.38483	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.222293	0.40144	N	0.001179	T	0.64875	0.2638	M	0.63428	1.95	0.24531	N	0.99411	P;P	0.37330	0.59;0.579	B;B	0.36766	0.113;0.232	T	0.61496	-0.7051	10	0.87932	D	0	-11.2488	8.3812	0.32472	0.1418:0.1297:0.7285:0.0	.	105;105	A6NBZ8;P02768	.;ALBU_HUMAN	L	107;105;105;105;114	ENSP00000392541:R107L;ENSP00000295897:R105L;ENSP00000422784:R105L	ENSP00000295897:R105L	R	+	2	0	ALB	74493218	0.008000	0.16893	0.127000	0.21898	0.059000	0.15707	1.109000	0.31135	0.869000	0.35703	0.563000	0.77884	CGT		0.423	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		3	25	1	0	6.4e-05	1	8.33271e-05	3	25				
PDHA2	5161	broad.mit.edu	37	4	96761560	96761560	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96761560G>T	ENST00000295266.4	+	1	322	c.259G>T	c.(259-261)Ggt>Tgt	p.G87C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	87					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATTCATTCGCGGTTTCTGTCA	0.522																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(259-261)Ggt>Tgt		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						118.0	104.0	109.0					4																	96761560		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761560G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.259G>T	4.37:g.96761560G>T	ENSP00000295266:p.Gly87Cys						p.G87C	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	322	+		Hepatocellular(203;0.114)	87					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.259G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954585	0.73902	.	.	ENSG00000163114	ENST00000295266	D	0.97924	-4.61	4.91	4.91	0.64330	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99136	1.0854	10	0.87932	D	0	-22.2053	16.0034	0.80327	0.0:0.0:1.0:0.0	.	87	P29803	ODPAT_HUMAN	C	87	ENSP00000295266:G87C	ENSP00000295266:G87C	G	+	1	0	PDHA2	96980583	1.000000	0.71417	0.354000	0.25760	0.656000	0.38851	8.854000	0.92228	2.733000	0.93635	0.467000	0.42956	GGT		0.522	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			10	63	1	0	0.000442599	1	0.000543056	10	63				
LAMA2	3908	broad.mit.edu	37	6	129828772	129828772	+	Missense_Mutation	SNP	G	G	T	rs143638361	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:129828772G>T	ENST00000421865.2	+	62	8891	c.8842G>T	c.(8842-8844)Ggt>Tgt	p.G2948C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2948	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGACGGAACCGGTTTTGCCAA	0.433																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(8842-8844)Ggt>Tgt		laminin, alpha 2		G	CYS/GLY,CYS/GLY	0,4406		0,0,2203	177.0	170.0	172.0		8842,8830	5.5	1.0	6	dbSNP_134	172	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	159,159	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	2948/3123,2944/3119	129828772	2,13004	2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129828772G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8842G>T	6.37:g.129828772G>T	ENSP00000400365:p.Gly2948Cys						p.G2948C	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	62	8891	+			2948			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.8842G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446146	0.84101	0.0	2.33E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.51574	0.7	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71474	-0.4582	9	.	.	.	.	19.4447	0.94841	0.0:0.0:1.0:0.0	.	2949;2948	A6NF00;P24043	.;LAMA2_HUMAN	C	2948;2947;2948;966	ENSP00000400365:G2948C	.	G	+	1	0	LAMA2	129870465	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	8.939000	0.92951	2.608000	0.88229	0.491000	0.48974	GGT		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			16	102	1	0	6.31663e-08	1	9.83895e-08	16	102				
SLCO1C1	53919	broad.mit.edu	37	12	20876088	20876088	+	Missense_Mutation	SNP	C	C	A	rs185836507		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:20876088C>A	ENST00000266509.2	+	9	1454	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S362R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	362					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TATGTACAAGCACTGTTCAGT	0.378																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1084-1086)agC>agA		solute carrier organic anion transporter family, member 1C1							191.0	172.0	178.0					12																	20876088		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876088C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1086C>A	12.37:g.20876088C>A	ENSP00000266509:p.Ser362Arg					SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S362R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R	p.S362R			Q9NYB5	SO1C1_HUMAN			9	1454	+	Esophageal squamous(101;0.149)		362					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1086C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690469	0.48097	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.81247	0.28;0.28;0.28;0.28;-1.47	4.48	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.091907	0.85682	D	0.000000	D	0.88032	0.6328	M	0.80847	2.515	0.42002	D	0.990897	D;D;D;D	0.65815	0.995;0.992;0.984;0.984	D;D;D;D	0.75020	0.923;0.985;0.947;0.921	D	0.88373	0.2996	10	0.59425	D	0.04	.	10.5099	0.44855	0.0:0.8551:0.0:0.1449	.	244;313;362;362	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	R	362;313;362;362;244	ENSP00000444149:S362R;ENSP00000438665:S313R;ENSP00000266509:S362R;ENSP00000370964:S362R;ENSP00000444527:S244R	ENSP00000266509:S362R	S	+	3	2	SLCO1C1	20767355	0.884000	0.30299	1.000000	0.80357	0.503000	0.33858	0.019000	0.13444	2.475000	0.83589	0.561000	0.74099	AGC		0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	51	1	0	0.00909568	1	0.00998677	4	51				
PCDHA2	56146	broad.mit.edu	37	5	140176235	140176235	+	Silent	SNP	G	G	A	rs527830690		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140176235G>A	ENST00000526136.1	+	1	1686	c.1686G>A	c.(1684-1686)gcG>gcA	p.A562A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A562A|PCDHA2_ENST00000378132.1_Silent_p.A562A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	562	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)			ACGACAACGCGCCGGCACTGT	0.697																																						ENST00000526136.1																			0				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						c.(1684-1686)gcG>gcA									87.0	84.0	85.0					5																	140176235		2203	4298	6501	SO:0001819	synonymous_variant	56146							g.chr5:140176235G>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.1686G>A	5.37:g.140176235G>A						PCDHA2_ENST00000378132.1_Silent_p.A562A|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A562A|PCDHA1_ENST00000504120.2_Intron	p.A562A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1686	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1686G>A	CCDS54914.1																																																																																				0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		21	60	0	0	0	1	0	21	60				
GCKR	2646	broad.mit.edu	37	2	27746223	27746223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:27746223G>A	ENST00000264717.2	+	19	1858	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	GCKR_ENST00000424318.2_Missense_Mutation_p.E409K	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	599					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCTGTCTGTGAGGCTGTCAG	0.597																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1795-1797)Gag>Aag		glucokinase (hexokinase 4) regulator							69.0	61.0	63.0					2																	27746223		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27746223G>A	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1795G>A	2.37:g.27746223G>A	ENSP00000264717:p.Glu599Lys					GCKR_ENST00000424318.2_Missense_Mutation_p.E409K	p.E599K	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			19	1858	+	Acute lymphoblastic leukemia(172;0.155)		599					A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1795G>A	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138926	0.56936	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.24723	2.16;1.84	3.94	3.05	0.35203	.	0.182883	0.33712	N	0.004633	T	0.20251	0.0487	N	0.19112	0.55	0.29371	N	0.864017	P;P;P	0.47910	0.879;0.902;0.804	P;B;B	0.48425	0.577;0.318;0.318	T	0.04268	-1.0964	10	0.66056	D	0.02	-7.1892	7.3746	0.26821	0.1218:0.0:0.8782:0.0	.	409;597;599	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	K	599;409	ENSP00000264717:E599K;ENSP00000409109:E409K	ENSP00000264717:E599K	E	+	1	0	GCKR	27599727	1.000000	0.71417	0.951000	0.38953	0.597000	0.36814	2.163000	0.42377	0.969000	0.38237	0.563000	0.77884	GAG		0.597	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		4	27	0	0	0	1	0	4	27				
GALNT8	26290	broad.mit.edu	37	12	4855336	4855336	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:4855336C>A	ENST00000252318.2	+	6	1422	c.1085C>A	c.(1084-1086)gCt>gAt	p.A362D		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	362	Catalytic subdomain B.				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)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCATCCTGGCTGCTAACAGG	0.527																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1084-1086)gCt>gAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							157.0	142.0	147.0					12																	4855336		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4855336C>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1085C>A	12.37:g.4855336C>A	ENSP00000252318:p.Ala362Asp						p.A362D	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			6	1422	+			362			Catalytic subdomain B.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1085C>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.280692	0.59758	.	.	ENSG00000130035	ENST00000252318	T	0.62639	0.01	4.23	2.34	0.29019	.	0.074808	0.53938	D	0.000058	T	0.81074	0.4747	H	0.95151	3.63	0.34510	D	0.707028	D	0.89917	1.0	D	0.71184	0.972	D	0.83560	0.0106	10	0.72032	D	0.01	.	6.3907	0.21585	0.0:0.5373:0.363:0.0997	.	362	Q9NY28	GALT8_HUMAN	D	362	ENSP00000252318:A362D	ENSP00000252318:A362D	A	+	2	0	GALNT8	4725597	0.124000	0.22315	0.993000	0.49108	0.964000	0.63967	0.511000	0.22739	0.401000	0.25424	0.645000	0.84053	GCT		0.527	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		6	56	1	0	0.00116845	1	0.00137844	6	56				
ANKRD17	26057	broad.mit.edu	37	4	74043124	74043124	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:74043124T>C	ENST00000358602.4	-	2	636	c.520A>G	c.(520-522)Aga>Gga	p.R174G	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R61G|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R174G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	174					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTCCAGTCTAGCCTGTGTT	0.403																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(520-522)Aga>Gga		ankyrin repeat domain 17							110.0	103.0	105.0					4																	74043124		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74043124T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.520A>G	4.37:g.74043124T>C	ENSP00000351416:p.Arg174Gly					ANKRD17_ENST00000509867.2_Missense_Mutation_p.R61G|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R174G	p.R174G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		2	636	-	Breast(15;0.000295)		174					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.520A>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802263	0.70682	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	D;D;T	0.81996	-1.56;-1.56;-0.69	5.39	1.24	0.21308	.	0.000000	0.64402	D	0.000001	D	0.83211	0.5205	L	0.50333	1.59	0.26144	N	0.980231	P;P;P;P	0.52170	0.951;0.914;0.95;0.86	P;P;P;P	0.54499	0.587;0.754;0.504;0.573	T	0.75797	-0.3191	10	0.30078	T	0.28	.	13.0565	0.58984	0.0:0.0:0.428:0.572	.	174;174;174;61	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	G	174;174;174;61;174	ENSP00000351416:R174G;ENSP00000332265:R174G;ENSP00000427151:R61G	ENSP00000332265:R174G	R	-	1	2	ANKRD17	74261988	0.999000	0.42202	0.986000	0.45419	0.968000	0.65278	1.954000	0.40362	0.303000	0.22785	0.482000	0.46254	AGA		0.403	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		7	30	0	0	0	1	0	7	30				
PDLIM3	27295	broad.mit.edu	37	4	186427757	186427757	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:186427757G>C	ENST00000284770.5	-	6	785	c.712C>G	c.(712-714)Cac>Gac	p.H238D	PDLIM3_ENST00000284771.6_Missense_Mutation_p.H190D|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	238					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGATTGTCGTGGAGCATCCGG	0.652																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(712-714)Cac>Gac		PDZ and LIM domain 3							69.0	61.0	64.0					4																	186427757		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186427757G>C	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.712C>G	4.37:g.186427757G>C	ENSP00000284770:p.His238Asp					PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.H190D	p.H238D	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	6	785	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	238					B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.712C>G	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934197	0.73442	.	.	ENSG00000154553	ENST00000284770;ENST00000284771	T;T	0.34859	1.34;2.16	5.96	5.96	0.96718	.	0.093805	0.85682	D	0.000000	T	0.46054	0.1373	M	0.68593	2.085	0.80722	D	1	B;B	0.21520	0.057;0.034	B;B	0.28916	0.096;0.044	T	0.39418	-0.9615	10	0.87932	D	0	-25.976	20.4008	0.98991	0.0:0.0:1.0:0.0	.	190;238	Q53GG5-2;Q53GG5	.;PDLI3_HUMAN	D	238;190	ENSP00000284770:H238D;ENSP00000284771:H190D	ENSP00000284770:H238D	H	-	1	0	PDLIM3	186664751	1.000000	0.71417	0.976000	0.42696	0.621000	0.37620	8.008000	0.88588	2.826000	0.97356	0.655000	0.94253	CAC		0.652	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		4	47	0	0	0	1	0	4	47				
ANKRD20A1	84210	broad.mit.edu	37	9	67951993	67951993	+	Missense_Mutation	SNP	G	G	T	rs574545185	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:67951993G>T	ENST00000377477.2	+	9	1068	c.956G>T	c.(955-957)aGa>aTa	p.R319I		NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	319						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAGGAAACAGAATAGTCAAT	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		23175	0.0		0.0	False		,,,				2504	0.002					ENST00000377477.2																			0				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						c.(955-957)aGa>aTa		ankyrin repeat domain 20 family, member A1							153.0	148.0	150.0					9																	67951993		1349	2293	3642	SO:0001583	missense	84210							g.chr9:67951993G>T	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.956G>T	9.37:g.67951993G>T	ENSP00000366697:p.Arg319Ile						p.R319I	NM_032250.3	NP_115626.2					9	1068	+								Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	c.956G>T	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	8.731	0.916777	0.17907	.	.	ENSG00000196774	ENST00000377477	T	0.38401	1.14	1.19	-2.04	0.07343	.	.	.	.	.	T	0.18257	0.0438	N	0.14661	0.345	0.09310	N	1	B	0.19200	0.034	B	0.04013	0.001	T	0.13710	-1.0499	9	0.45353	T	0.12	.	6.0186	0.19616	0.4256:0.0:0.5744:0.0	.	319	Q5TYW2	A20A1_HUMAN	I	319	ENSP00000366697:R319I	ENSP00000366697:R319I	R	+	2	0	ANKRD20A1	67541813	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.210000	0.09345	-1.021000	0.03350	0.000000	0.15137	AGA		0.423	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			23	58	1	0	4.59853e-10	1	7.56001e-10	23	58				
CREBBP	1387	broad.mit.edu	37	16	3786795	3786795	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:3786795C>A	ENST00000262367.5	-	27	5225	c.4416G>T	c.(4414-4416)tgG>tgT	p.W1472C	CREBBP_ENST00000382070.3_Missense_Mutation_p.W1434C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1472	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|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)		GAGGACAGGCCCAGATGTGCC	0.507			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				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				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						c.(4414-4416)tgG>tgT		CREB binding protein							171.0	144.0	154.0					16																	3786795		2197	4300	6497	SO:0001583	missense	1387				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.chr16:3786795C>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.4416G>T	16.37:g.3786795C>A	ENSP00000262367:p.Trp1472Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.W1434C	p.W1472C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	27	5225	-		Ovarian(90;0.0266)	1472			Cys/His-rich.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4416G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	18.33	3.599921	0.66332	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94232	-3.38;-3.38	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	D	0.97917	0.9315	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99075	1.0835	10	0.87932	D	0	-10.3079	18.1954	0.89819	0.0:1.0:0.0:0.0	.	1502;1472	Q4LE28;Q92793	.;CBP_HUMAN	C	1472;1502;1434;61	ENSP00000262367:W1472C;ENSP00000371502:W1434C	ENSP00000262367:W1472C	W	-	3	0	CREBBP	3726796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.607000	0.88179	0.561000	0.74099	TGG		0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		20	50	1	0	8.00594e-06	1	1.12499e-05	20	50				
BFSP2	8419	broad.mit.edu	37	3	133119065	133119065	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:133119065C>A	ENST00000302334.2	+	1	227	c.138C>A	c.(136-138)gcC>gcA	p.A46A		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	46	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGACCAATGCCATGAGTGGCC	0.677																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(136-138)gcC>gcA		beaded filament structural protein 2, phakinin							46.0	53.0	51.0					3																	133119065		2203	4300	6503	SO:0001819	synonymous_variant	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119065C>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.138C>A	3.37:g.133119065C>A							p.A46A	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	227	+			46			Head.		Q14D32|Q9HBW5	Silent	SNP	ENST00000302334.2	37	c.138C>A	CCDS33859.1																																																																																				0.677	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			7	69	1	0	0.00198382	1	0.00230193	7	69				
KCTD8	386617	broad.mit.edu	37	4	44450346	44450346	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:44450346G>C	ENST00000360029.3	-	1	478	c.195C>G	c.(193-195)gtC>gtG	p.V65V	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	65	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACTGTCCGGGACGCTGAGCA	0.692										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(193-195)gtC>gtG		potassium channel tetramerization domain containing 8							26.0	22.0	23.0					4																	44450346		2190	4273	6463	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450346G>C	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.195C>G	4.37:g.44450346G>C		HNSCC(17;0.042)					p.V65V	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	478	-			65			BTB.		A2RU39	Silent	SNP	ENST00000360029.3	37	c.195C>G	CCDS3467.1																																																																																				0.692	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			3	16	0	0	0	1	0	3	16				
FSTL5	56884	broad.mit.edu	37	4	162508697	162508697	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:162508697T>A	ENST00000306100.5	-	8	1361	c.925A>T	c.(925-927)Act>Tct	p.T309S	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.T308S|FSTL5_ENST00000427802.2_Missense_Mutation_p.T308S|FSTL5_ENST00000379164.4_Missense_Mutation_p.T308S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	309	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTAACCTTAGTAATATACAAG	0.338																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(925-927)Act>Tct		follistatin-like 5							98.0	91.0	93.0					4																	162508697		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162508697T>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.925A>T	4.37:g.162508697T>A	ENSP00000305334:p.Thr309Ser					FSTL5_ENST00000379164.4_Missense_Mutation_p.T308S|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.T308S|FSTL5_ENST00000536695.1_Missense_Mutation_p.T308S	p.T309S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	8	1361	-	all_hematologic(180;0.24)		309			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.925A>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413643	0.83449	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.34	5.34	0.76211	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	L	0.41710	1.295	0.80722	D	1	D;P;P	0.76494	0.999;0.946;0.929	D;P;P	0.83275	0.996;0.787;0.826	T	0.00817	-1.1554	10	0.39692	T	0.17	.	14.5492	0.68054	0.0:0.0:0.0:1.0	.	308;308;309	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	309;308;308;308	ENSP00000305334:T309S;ENSP00000368462:T308S;ENSP00000389270:T308S;ENSP00000440409:T308S	ENSP00000305334:T309S	T	-	1	0	FSTL5	162728147	1.000000	0.71417	0.717000	0.30585	0.970000	0.65996	7.695000	0.84257	2.020000	0.59435	0.529000	0.55759	ACT		0.338	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		6	52	0	0	0	1	0	6	52				
FAM135B	51059	broad.mit.edu	37	8	139153565	139153565	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:139153565G>T	ENST00000395297.1	-	17	3836	c.3666C>A	c.(3664-3666)atC>atA	p.I1222I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1222										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCGGATGATGATGTTGCCAA	0.552										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3664-3666)atC>atA		family with sequence similarity 135, member B							168.0	177.0	174.0					8																	139153565		2100	4218	6318	SO:0001819	synonymous_variant	51059							g.chr8:139153565G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3666C>A	8.37:g.139153565G>T		HNSCC(54;0.14)					p.I1222I	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		17	3836	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1222					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3666C>A	CCDS6375.2																																																																																				0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	66	1	0	0.014758	1	0.0159185	5	66				
NPHP1	4867	broad.mit.edu	37	2	110927450	110927450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:110927450G>T	ENST00000393272.3	-	5	552	c.455C>A	c.(454-456)tCa>tAa	p.S152*	NPHP1_ENST00000445609.2_Nonsense_Mutation_p.S152*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.S90*|NPHP1_ENST00000316534.4_Nonsense_Mutation_p.S152*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.S152*	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	152	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTCACCGGTTGACCATTTGTG	0.418																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(454-456)tCa>tAa		nephronophthisis 1 (juvenile)							206.0	175.0	186.0					2																	110927450		2203	4300	6503	SO:0001587	stop_gained	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110927450G>T	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.455C>A	2.37:g.110927450G>T	ENSP00000376953:p.Ser152*					NPHP1_ENST00000417665.1_Nonsense_Mutation_p.S152*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.S152*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.S152*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.S90*	p.S152*			O15259	NPHP1_HUMAN			5	528	-			152			SH3.		O14837	Nonsense_Mutation	SNP	ENST00000393272.3	37	c.455C>A	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281965	0.40394	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	.	.	.	5.34	5.34	0.76211	.	0.483859	0.20842	N	0.084696	.	.	.	.	.	.	0.32028	N	0.599871	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-2.6862	10.0544	0.42237	0.0917:0.0:0.9083:0.0	.	.	.	.	X	152;152;152;90;152	.	ENSP00000313169:S152X	S	-	2	0	NPHP1	110284739	0.143000	0.22626	0.024000	0.17045	0.013000	0.08279	2.006000	0.40874	2.504000	0.84457	0.484000	0.47621	TCA		0.418	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		4	34	1	0	0.00024832	1	0.000309642	4	34				
XIRP2	129446	broad.mit.edu	37	2	168100627	168100627	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:168100627G>T	ENST00000409195.1	+	9	2814	c.2725G>T	c.(2725-2727)Gtt>Ttt	p.V909F	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V687F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V909F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	734					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGGGGATGTTAGGCATCA	0.358																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2725-2727)Gtt>Ttt		xin actin-binding repeat containing 2							54.0	51.0	52.0					2																	168100627		1828	4102	5930	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100627G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2725G>T	2.37:g.168100627G>T	ENSP00000386840:p.Val909Phe					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V687F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V909F	p.V909F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2814	+			734					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2725G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732788	0.69189	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.75477	-0.94;-0.94;-0.94	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.83281	-0.0038	10	0.87932	D	0	-16.2501	19.7159	0.96121	0.0:0.0:1.0:0.0	.	734;734;687	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	909;909;687	ENSP00000386840:V909F;ENSP00000295237:V909F;ENSP00000387255:V687F	ENSP00000295237:V909F	V	+	1	0	XIRP2	167808873	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	9.476000	0.97823	2.758000	0.94735	0.655000	0.94253	GTT		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	50	1	0	0.0215528	1	0.0230314	6	50				
OR5J2	282775	broad.mit.edu	37	11	55944828	55944828	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55944828G>A	ENST00000312298.1	+	1	735	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCTCTCACCTGACTGCTGTGA	0.438																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(733-735)ctG>ctA		olfactory receptor, family 5, subfamily J, member 2							135.0	124.0	128.0					11																	55944828		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944828G>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.735G>A	11.37:g.55944828G>A							p.L245L	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	735	+	Esophageal squamous(21;0.00693)		245					Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.735G>A	CCDS31522.1																																																																																				0.438	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		12	81	0	0	0	1	0	12	81				
POLR2G	5436	broad.mit.edu	37	11	62529266	62529266	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:62529266G>T	ENST00000301788.7	+	2	117		c.e2-1			NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G						7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						TTTCTCCGCAGATCTCCCTAG	0.617																																						ENST00000301788.7																			0				lung(3)	3						c.e2-1		polymerase (RNA) II (DNA directed) polypeptide G							139.0	140.0	140.0					11																	62529266		2202	4299	6501	SO:0001630	splice_region_variant	5436				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62529266G>T	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.13-1G>T	11.37:g.62529266G>T								NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN			2	117	+								B2R5C0|P52433|Q2M1Z4	Splice_Site	SNP	ENST00000301788.7	37		CCDS31585.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177642	0.78564	.	.	ENSG00000168002	ENST00000301788	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8145	0.70020	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR2G	62285842	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.506000	0.90518	2.570000	0.86706	0.462000	0.41574	.		0.617	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696	Intron	8	104	1	0	1.06961e-07	1	1.64929e-07	8	104				
USH2A	7399	broad.mit.edu	37	1	216052385	216052385	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:216052385T>C	ENST00000307340.3	-	42	8665	c.8279A>G	c.(8278-8280)cAc>cGc	p.H2760R	USH2A_ENST00000366943.2_Missense_Mutation_p.H2760R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2760	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGGCATGTGAATCTCATA	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8278-8280)cAc>cGc		Usher syndrome 2A (autosomal recessive, mild)							152.0	153.0	153.0					1																	216052385		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052385T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8279A>G	1.37:g.216052385T>C	ENSP00000305941:p.His2760Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.H2760R	p.H2760R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8665	-			2760			Fibronectin type-III 14.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8279A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	5.774	0.327101	0.10900	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55234	0.53;0.53	6.16	4.09	0.47781	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.161291	0.29431	N	0.012172	T	0.13030	0.0316	N	0.00110	-2.1	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	10	0.02654	T	1	.	10.5318	0.44981	0.0:0.7714:0.0:0.2286	.	2760	O75445	USH2A_HUMAN	R	2760	ENSP00000305941:H2760R;ENSP00000355910:H2760R	ENSP00000305941:H2760R	H	-	2	0	USH2A	214119008	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	1.895000	0.39778	0.355000	0.24131	-0.128000	0.14901	CAC		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	92	0	0	0	1	0	13	92				
DOCK8	81704	broad.mit.edu	37	9	286627	286627	+	Missense_Mutation	SNP	C	C	A	rs375758495		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:286627C>A	ENST00000453981.1	+	3	435	c.323C>A	c.(322-324)cCg>cAg	p.P108Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.P40Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.P40Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	108					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCCTCTTTGCCGGAGGAAGGG	0.468																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(118-120)cCg>cAg		dedicator of cytokinesis 8							109.0	97.0	101.0					9																	286627		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286627C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.323C>A	9.37:g.286627C>A	ENSP00000408464:p.Pro108Gln					DOCK8_ENST00000469391.1_Missense_Mutation_p.P40Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.P108Q	p.P40Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	3	435	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	108					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.119C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959350	0.92726	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	D;D;D	0.97110	0.981;1.0;0.997	D	0.90515	0.4484	10	0.59425	D	0.04	.	19.3433	0.94352	0.0:1.0:0.0:0.0	.	40;108;108	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	Q	108;108;40;40;40;40	ENSP00000408464:P108Q;ENSP00000394888:P40Q;ENSP00000417082:P40Q;ENSP00000418318:P40Q;ENSP00000419438:P40Q	ENSP00000287364:P108Q	P	+	2	0	DOCK8	276627	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	7.469000	0.80959	2.574000	0.86865	0.563000	0.77884	CCG		0.468	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		3	26	1	0	0.115264	1	0.120372	3	26				
SERPINB4	6318	broad.mit.edu	37	18	61309123	61309123	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:61309123C>A	ENST00000341074.5	-	4	338		c.e4-1		SERPINB4_ENST00000356424.6_Splice_Site	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACCTATCAACCTTCAAACATC	0.388																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.e4-1		serpin peptidase inhibitor, clade B (ovalbumin), member 4							145.0	126.0	133.0					18																	61309123		2203	4298	6501	SO:0001630	splice_region_variant	6318							g.chr18:61309123C>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.223-1G>T	18.37:g.61309123C>A						SERPINB4_ENST00000356424.6_Splice_Site		NM_002974.2	NP_002965.1					4	338	-								A8K847	Splice_Site	SNP	ENST00000341074.5	37		CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856654	0.32791	.	.	ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000413673	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3974	0.26944	0.0:0.881:0.0:0.119	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINB4	59460103	0.944000	0.32072	0.941000	0.38009	0.273000	0.26683	1.790000	0.38734	2.098000	0.63641	0.603000	0.83216	.		0.388	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	Intron	6	81	1	0	3.59834e-05	1	4.79257e-05	6	81				
COL4A3	1285	broad.mit.edu	37	2	228173617	228173617	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228173617A>T	ENST00000396578.3	+	49	4627	c.4465A>T	c.(4465-4467)Act>Tct	p.T1489S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1489	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTCATTAGGAACTCTTGGCAG	0.358																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(4465-4467)Act>Tct		collagen, type IV, alpha 3 (Goodpasture antigen)							104.0	93.0	97.0					2																	228173617		1904	4123	6027	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228173617A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4465A>T	2.37:g.228173617A>T	ENSP00000379823:p.Thr1489Ser					AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	p.T1489S	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	49	4627	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1489			Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.4465A>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507692	0.64410	.	.	ENSG00000169031	ENST00000396578;ENST00000328380	D	0.93547	-3.24	5.97	4.83	0.62350	C-type lectin fold (1);	0.102311	0.43260	D	0.000584	D	0.84964	0.5589	N	0.12746	0.255	0.58432	D	0.999999	P;P	0.41159	0.74;0.519	B;B	0.38562	0.276;0.23	T	0.81976	-0.0686	10	0.18276	T	0.48	.	12.0294	0.53390	0.933:0.0:0.067:0.0	.	1489;1489	Q01955-2;Q01955	.;CO4A3_HUMAN	S	1489	ENSP00000379823:T1489S	ENSP00000327594:T1489S	T	+	1	0	COL4A3	227881861	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	6.010000	0.70753	1.092000	0.41356	0.533000	0.62120	ACT		0.358	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		6	44	0	0	0	1	0	6	44				
OR5B17	219965	broad.mit.edu	37	11	58126459	58126459	+	Missense_Mutation	SNP	C	C	A	rs149291904		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58126459C>A	ENST00000357377.3	-	1	83	c.84G>T	c.(82-84)atG>atT	p.M28I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGGTAAACATGATAAAGA	0.428																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(82-84)atG>atT		olfactory receptor, family 5, subfamily B, member 17							93.0	93.0	93.0					11																	58126459		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126459C>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.84G>T	11.37:g.58126459C>A	ENSP00000349945:p.Met28Ile						p.M28I	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	83	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	28					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.84G>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.548141	0.00926	.	.	ENSG00000197786	ENST00000357377	T	0.02863	4.13	3.6	-4.94	0.03057	.	.	.	.	.	T	0.00845	0.0028	N	0.01761	-0.735	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	9	0.10636	T	0.68	-0.0324	0.9287	0.01330	0.2306:0.1847:0.3423:0.2424	.	28	Q8NGF7	OR5BH_HUMAN	I	28	ENSP00000349945:M28I	ENSP00000349945:M28I	M	-	3	0	OR5B17	57883035	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-7.293000	0.00039	-0.950000	0.03659	0.461000	0.40582	ATG		0.428	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		5	69	1	0	0.217242	1	0.220847	5	69				
NNT	23530	broad.mit.edu	37	5	43656127	43656127	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:43656127G>A	ENST00000264663.5	+	15	2466	c.2245G>A	c.(2245-2247)Ggt>Agt	p.G749S	NNT_ENST00000344920.4_Missense_Mutation_p.G749S|NNT_ENST00000512996.2_Missense_Mutation_p.G618S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	749					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CACTTACATTGGTGGCGTCAC	0.418																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2245-2247)Ggt>Agt		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						102.0	89.0	93.0					5																	43656127		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43656127G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2245G>A	5.37:g.43656127G>A	ENSP00000264663:p.Gly749Ser					NNT_ENST00000512996.2_Missense_Mutation_p.G618S|NNT_ENST00000344920.4_Missense_Mutation_p.G749S	p.G749S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			15	2466	+	Lung NSC(6;2.58e-06)		749					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2245G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614943	0.96649	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.94138	-3.36;-3.36;-3.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	-14.235	20.2936	0.98544	0.0:0.0:1.0:0.0	.	749	Q13423	NNTM_HUMAN	S	264;749;749;618	ENSP00000264663:G749S;ENSP00000343873:G749S;ENSP00000426343:G618S	ENSP00000264663:G749S	G	+	1	0	NNT	43691884	1.000000	0.71417	0.950000	0.38849	0.818000	0.46254	9.476000	0.97823	2.801000	0.96364	0.655000	0.94253	GGT		0.418	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		8	30	0	0	0	1	0	8	30				
GABRG1	2565	broad.mit.edu	37	4	46043027	46043027	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:46043027C>A	ENST00000295452.4	-	9	1543	c.1376G>T	c.(1375-1377)tGg>tTg	p.W459L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	459					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATAGCCAACCCAATAAACCAA	0.348																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1375-1377)tGg>tTg		gamma-aminobutyric acid (GABA) A receptor, gamma 1							72.0	78.0	76.0					4																	46043027		2203	4299	6502	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043027C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1376G>T	4.37:g.46043027C>A	ENSP00000295452:p.Trp459Leu						p.W459L	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1543	-			459					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1376G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877966	0.91664	.	.	ENSG00000163285	ENST00000295452	D	0.84944	-1.92	5.48	5.48	0.80851	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94305	0.7540	10	0.87932	D	0	.	18.342	0.90308	0.0:1.0:0.0:0.0	.	459	Q8N1C3	GBRG1_HUMAN	L	459	ENSP00000295452:W459L	ENSP00000295452:W459L	W	-	2	0	GABRG1	45737784	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.741000	0.84997	2.580000	0.87095	0.467000	0.42956	TGG		0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		7	40	1	0	0.0293803	1	0.0312145	7	40				
CTNND2	1501	broad.mit.edu	37	5	11364835	11364835	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:11364835G>T	ENST00000304623.8	-	8	1534	c.1345C>A	c.(1345-1347)Cac>Aac	p.H449N	CTNND2_ENST00000511377.1_Missense_Mutation_p.H358N|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.H449N|CTNND2_ENST00000458100.2_Missense_Mutation_p.H16N|CTNND2_ENST00000503622.1_Missense_Mutation_p.H112N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	449					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCCGGTGTGTGCTGGCGGC	0.612																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1345-1347)Cac>Aac		catenin (cadherin-associated protein), delta 2							35.0	39.0	38.0					5																	11364835		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364835G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1345C>A	5.37:g.11364835G>T	ENSP00000307134:p.His449Asn					CTNND2_ENST00000503622.1_Missense_Mutation_p.H112N|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.H449N|CTNND2_ENST00000511377.1_Missense_Mutation_p.H358N|CTNND2_ENST00000458100.2_Missense_Mutation_p.H16N	p.H449N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1534	-			449					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1345C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452943	0.63290	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622;ENST00000502551	T;T;T;T;T	0.76709	-0.89;-0.96;-0.89;-1.04;-1.0	5.17	5.17	0.71159	.	0.376195	0.26200	N	0.025743	T	0.68302	0.2986	N	0.24115	0.695	0.45704	D	0.998617	B;B;B	0.23806	0.032;0.032;0.091	B;B;B	0.20184	0.028;0.028;0.024	T	0.63625	-0.6595	10	0.38643	T	0.18	-13.0891	19.0354	0.92974	0.0:0.0:1.0:0.0	.	112;16;449	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	N	449;449;358;16;112;189	ENSP00000307134:H449N;ENSP00000352661:H449N;ENSP00000426510:H358N;ENSP00000391155:H16N;ENSP00000426887:H112N	ENSP00000307134:H449N	H	-	1	0	CTNND2	11417835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.103000	0.77014	2.581000	0.87130	0.655000	0.94253	CAC		0.612	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		4	28	1	0	0.00024832	1	0.000309642	4	28				
TRBV2	28620	broad.mit.edu	37	7	142001091	142001091	+	RNA	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142001091A>T	ENST00000455382.2	+	0	257									T cell receptor beta variable 2																		TGGGGCAGAAAGTCGAGTTTC	0.398																																						ENST00000455382.2																			0																				34.0	33.0	33.0					7																	142001091		1833	4093	5926			28620							g.chr7:142001091A>T	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142001091A>T														0	257	+									RNA	SNP	ENST00000455382.2	37																																																																																						0.398	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		5	14	0	0	0	1	0	5	14				
IL3RA	3563	broad.mit.edu	37	X	1484092	1484092	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:1484092C>G	ENST00000331035.4	+	9	1170	c.821C>G	c.(820-822)gCc>gGc	p.A274G	IL3RA_ENST00000381469.2_Missense_Mutation_p.A196G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	274					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAATAAGAGCCCGGGAAAGA	0.562																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(820-822)gCc>gGc		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						78.0	90.0	86.0					X																	1484092		2200	4291	6491	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484092C>G	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.821C>G	X.37:g.1484092C>G	ENSP00000327890:p.Ala274Gly					IL3RA_ENST00000381469.2_Missense_Mutation_p.A196G	p.A274G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			9	1170	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	274					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.821C>G	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	10.53	1.377301	0.24944	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.90732	-2.72;-2.72	0.355	-0.71	0.11234	Fibronectin, type III (1);Immunoglobulin-like fold (1);	683.373000	0.01420	U	0.014358	D	0.90830	0.7120	L	0.46157	1.445	0.09310	N	1	P;P	0.52061	0.95;0.948	P;P	0.54965	0.765;0.487	T	0.77480	-0.2572	9	0.42905	T	0.14	-19.4131	.	.	.	.	195;274	P26951-2;P26951	.;IL3RA_HUMAN	G	274;196	ENSP00000327890:A274G;ENSP00000370878:A196G	ENSP00000327890:A274G	A	+	2	0	IL3RA	1444092	0.000000	0.05858	0.001000	0.08648	0.479000	0.33129	-1.656000	0.01980	-0.492000	0.06687	0.081000	0.15443	GCC		0.562	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			4	30	0	0	0	1	0	4	30				
MDGA2	161357	broad.mit.edu	37	14	47530580	47530580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:47530580G>A	ENST00000399232.2	-	7	1554	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	MDGA2_ENST00000357362.3_Missense_Mutation_p.P168L|MDGA2_ENST00000439988.3_Missense_Mutation_p.P466L|MDGA2_ENST00000426342.1_Missense_Mutation_p.P168L	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	397	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTTGTTCCCGGAGAGACATC	0.413																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(502-504)cCg>cTg		MAM domain containing glycosylphosphatidylinositol anchor 2							162.0	146.0	151.0					14																	47530580		1896	4111	6007	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530580G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1190C>T	14.37:g.47530580G>A	ENSP00000382178:p.Pro397Leu					MDGA2_ENST00000399232.2_Missense_Mutation_p.P466L|MDGA2_ENST00000439988.2_Missense_Mutation_p.P397L|MDGA2_ENST00000357362.3_Missense_Mutation_p.P168L	p.P168L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1249	-			397			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.503C>T		.	.	.	.	.	.	.	.	.	.	G	17.75	3.466403	0.63625	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	U	0.000090	T	0.60612	0.2282	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.58912	-0.7552	10	0.52906	T	0.07	.	18.2795	0.90094	0.0:0.0:1.0:0.0	.	397	Q7Z553	MDGA2_HUMAN	L	397;168;466;168	ENSP00000400011:P397L;ENSP00000405456:P168L;ENSP00000382178:P466L;ENSP00000349925:P168L	ENSP00000349925:P168L	P	-	2	0	MDGA2	46600330	1.000000	0.71417	0.513000	0.27749	0.625000	0.37756	7.895000	0.87343	2.658000	0.90341	0.655000	0.94253	CCG		0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		8	76	0	0	0	1	0	8	76				
FAM46C	54855	broad.mit.edu	37	1	118165857	118165857	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:118165857G>A	ENST00000369448.3	+	2	614	c.367G>A	c.(367-369)Ggt>Agt	p.G123S		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	123										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCTGCCAGAGGGTGTGAACAA	0.502			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												ENST00000369448.3				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(367-369)Ggt>Agt		family with sequence similarity 46, member C							108.0	108.0	108.0					1																	118165857		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118165857G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.367G>A	1.37:g.118165857G>A	ENSP00000358458:p.Gly123Ser	Multiple Myeloma(3;1.13e-06)					p.G123S	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	614	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	123					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.367G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803128	0.70682	.	.	ENSG00000183508	ENST00000369448	T	0.26223	1.75	5.75	5.75	0.90469	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000001	T	0.39009	0.1062	M	0.69358	2.11	0.80722	D	1	D	0.58620	0.983	P	0.59761	0.863	T	0.04178	-1.0971	10	0.44086	T	0.13	-8.297	18.9258	0.92544	0.0:0.0:1.0:0.0	.	123	Q5VWP2	FA46C_HUMAN	S	123	ENSP00000358458:G123S	ENSP00000358458:G123S	G	+	1	0	FAM46C	117967380	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.684000	0.74538	2.711000	0.92665	0.655000	0.94253	GGT		0.502	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		14	63	0	0	0	1	0	14	63				
LRTM2	654429	broad.mit.edu	37	12	1940644	1940644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:1940644G>A	ENST00000543818.1	+	4	1453	c.611G>A	c.(610-612)tGt>tAt	p.C204Y	CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.C204Y|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.C204Y|LRTM2_ENST00000543730.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	204	LRRCT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GAGTGTGACTGTAACCTGCGT	0.602																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(610-612)tGt>tAt		leucine-rich repeats and transmembrane domains 2							53.0	57.0	56.0					12																	1940644		2203	4300	6503	SO:0001583	missense	654429					integral to membrane		g.chr12:1940644G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.611G>A	12.37:g.1940644G>A	ENSP00000446278:p.Cys204Tyr					LRTM2_ENST00000299194.1_Missense_Mutation_p.C204Y|LRTM2_ENST00000535041.1_Missense_Mutation_p.C204Y|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron	p.C204Y	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1453	+	Ovarian(42;0.107)		204			LRRCT.		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.611G>A	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774200	0.90108	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.57436	0.4;0.4;0.4	5.07	5.07	0.68467	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86251	0.1649	10	0.87932	D	0	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	204	Q8N967	LRTM2_HUMAN	Y	204	ENSP00000446278:C204Y;ENSP00000299194:C204Y;ENSP00000444737:C204Y	ENSP00000299194:C204Y	C	+	2	0	LRTM2	1810905	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.853000	0.99521	2.353000	0.79882	0.561000	0.74099	TGT		0.602	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			8	49	0	0	0	1	0	8	49				
TTN	7273	broad.mit.edu	37	2	179586797	179586797	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179586797A>G	ENST00000591111.1	-	76	21866	c.21642T>C	c.(21640-21642)agT>agC	p.S7214S	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.S7531S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S6287S|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12783	Ig-like 54.				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)			CAAAATCAGCACTTTCTCCAG	0.408																																						ENST00000589042.1																			0				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						c.(22591-22593)agT>agC		titin							209.0	198.0	202.0					2																	179586797		1951	4147	6098	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179586797A>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.21642T>C	2.37:g.179586797A>G						TTN_ENST00000591111.1_Silent_p.S7214S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.S6287S|TTN_ENST00000359218.5_Intron	p.S7531S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		78	22817	-			7214			Ig-like 57.		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.22593T>C																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	142	0	0	0	1	0	7	142				
OR5D18	219438	broad.mit.edu	37	11	55587755	55587755	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55587755C>A	ENST00000333976.4	+	1	670	c.650C>A	c.(649-651)aCa>aAa	p.T217K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ATCGTTCTCACATCTTATGCG	0.483																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(649-651)aCa>aAa		olfactory receptor, family 5, subfamily D, member 18							192.0	158.0	170.0					11																	55587755		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587755C>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.650C>A	11.37:g.55587755C>A	ENSP00000335025:p.Thr217Lys						p.T217K	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	670	+		all_epithelial(135;0.208)	217					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.650C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.04	1.522969	0.27211	.	.	ENSG00000186119	ENST00000333976	T	0.38077	1.16	4.85	-4.94	0.03057	GPCR, rhodopsin-like superfamily (1);	2.135720	0.02276	N	0.068923	T	0.56790	0.2009	M	0.89904	3.07	0.09310	N	1	P	0.45986	0.87	P	0.51742	0.678	T	0.63563	-0.6609	10	0.66056	D	0.02	-0.2704	9.4805	0.38898	0.1414:0.6954:0.0:0.1632	.	217	Q8NGL1	OR5DI_HUMAN	K	217	ENSP00000335025:T217K	ENSP00000335025:T217K	T	+	2	0	OR5D18	55344331	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-1.326000	0.02685	-1.176000	0.02747	-0.551000	0.04211	ACA		0.483	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		10	80	1	0	0.00621372	1	0.00702387	10	80				
CXXC4	80319	broad.mit.edu	37	4	105412265	105412265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:105412265C>T	ENST00000426831.1	-	1	202	c.188G>A	c.(187-189)cGc>cAc	p.R63H	AC093628.1_ENST00000606234.1_RNA|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_Missense_Mutation_p.R232H			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	63					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		AGTCCCCACGCGCTCGGGGAG	0.572																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(694-696)cGc>cAc		CXXC finger protein 4							97.0	107.0	104.0					4																	105412265		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412265C>T		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.188G>A	4.37:g.105412265C>T	ENSP00000412267:p.Arg63His					AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.R63H|CXXC4_ENST00000466963.1_Intron	p.R232H	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1145	-			63						Missense_Mutation	SNP	ENST00000426831.1	37	c.695G>A		.	.	.	.	.	.	.	.	.	.	C	18.86	3.713211	0.68730	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	T	0.28830	0.0715	N	0.08118	0	0.53005	D	0.999961	D	0.54047	0.964	B	0.39068	0.289	T	0.38351	-0.9665	8	0.59425	D	0.04	-12.5828	16.3933	0.83546	0.0:1.0:0.0:0.0	.	63	Q9H2H0	CXXC4_HUMAN	H	63	.	ENSP00000378248:R63H	R	-	2	0	CXXC4	105631714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.396000	0.73234	2.036000	0.60181	0.298000	0.19748	CGC		0.572	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		16	90	0	0	0	1	0	16	90				
MACF1	23499	broad.mit.edu	37	1	39781291	39781291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:39781291T>G	ENST00000372915.3	+	26	3479	c.3392T>G	c.(3391-3393)cTg>cGg	p.L1131R	MACF1_ENST00000361689.2_Missense_Mutation_p.L1131R|MACF1_ENST00000545844.1_Missense_Mutation_p.L1131R|MACF1_ENST00000317713.7_Missense_Mutation_p.L1131R|MACF1_ENST00000539005.1_Missense_Mutation_p.L1131R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.L1126R|MACF1_ENST00000567887.1_Missense_Mutation_p.L1163R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1131					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCCCAACTCTGCGCTCAGAA	0.453																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3376-3378)cTg>cGg		microtubule-actin crosslinking factor 1							136.0	127.0	130.0					1																	39781291		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39781291T>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3392T>G	1.37:g.39781291T>G	ENSP00000362006:p.Leu1131Arg					MACF1_ENST00000372915.3_Missense_Mutation_p.L1131R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L1131R|MACF1_ENST00000567887.1_Missense_Mutation_p.L1163R|MACF1_ENST00000539005.1_Missense_Mutation_p.L1131R|MACF1_ENST00000545844.1_Missense_Mutation_p.L1131R|MACF1_ENST00000317713.7_Missense_Mutation_p.L1131R	p.L1126R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		27	4154	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1131			Poly-Ser.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3377T>G		.	.	.	.	.	.	.	.	.	.	T	26.5	4.748030	0.89663	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.95	5.95	0.96441	.	.	.	.	.	D	0.91102	0.7199	M	0.78049	2.395	0.80722	D	1	P;D;D	0.89917	0.727;1.0;1.0	B;D;D	0.91635	0.3;0.999;0.994	D	0.91577	0.5276	9	0.56958	D	0.05	.	16.4219	0.83766	0.0:0.0:0.0:1.0	.	1131;1131;1096	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	R	1131;1131;1131;1131;1131;1089;1280	ENSP00000439537:L1131R;ENSP00000362006:L1131R;ENSP00000354573:L1131R;ENSP00000313438:L1131R;ENSP00000444364:L1131R;ENSP00000435070:L1089R;ENSP00000437059:L1280R	ENSP00000313438:L1131R	L	+	2	0	MACF1	39553878	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.121000	0.71602	2.277000	0.76020	0.528000	0.53228	CTG		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	59	0	0	0	1	0	5	59				
PCDHGA8	9708	broad.mit.edu	37	5	140773203	140773203	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140773203G>C	ENST00000398604.2	+	1	823	c.823G>C	c.(823-825)Gga>Cga	p.G275R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	275	Cadherin 3. {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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGAAAAGTGGC	0.438																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(823-825)Gga>Cga									71.0	76.0	74.0					5																	140773203		1849	4095	5944	SO:0001583	missense	9708							g.chr5:140773203G>C	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.823G>C	5.37:g.140773203G>C	ENSP00000381605:p.Gly275Arg					PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	p.G275R	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	823	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.823G>C	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	18.29	3.591912	0.66219	.	.	ENSG00000253767	ENST00000398604	T	0.53423	0.62	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	2.898350	0.06490	U	0.734364	T	0.78329	0.4266	M	0.88377	2.95	0.41837	D	0.990104	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.989	T	0.71787	-0.4487	10	0.72032	D	0.01	.	18.8047	0.92032	0.0:0.0:1.0:0.0	.	275;275	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	R	275	ENSP00000381605:G275R	ENSP00000381605:G275R	G	+	1	0	PCDHGA8	140753387	1.000000	0.71417	0.565000	0.28409	0.617000	0.37484	5.649000	0.67936	2.552000	0.86080	0.655000	0.94253	GGA		0.438	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		7	66	0	0	0	1	0	7	66				
PCDH15	65217	broad.mit.edu	37	10	55626433	55626433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:55626433C>T	ENST00000320301.6	-	27	4080	c.3686G>A	c.(3685-3687)gGg>gAg	p.G1229E	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1229E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Missense_Mutation_p.G840E|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1192E|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1158E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1207E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1236E|PCDH15_ENST00000373965.2_Missense_Mutation_p.G1236E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1234E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1229	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTCCCTTCCCATAGTCGTC	0.413										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3706-3708)gGg>gAg		protocadherin-related 15							116.0	100.0	106.0					10																	55626433		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626433C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3686G>A	10.37:g.55626433C>T	ENSP00000322604:p.Gly1229Glu	HNSCC(58;0.16)				PCDH15_ENST00000395438.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1207E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1229E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1229E|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1236E|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1158E|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1229E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1192E|PCDH15_ENST00000409834.1_Missense_Mutation_p.G840E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1234E	p.G1236E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			28	4101	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1229			Cadherin 11.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3707G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976083	0.92982	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67636	0.2914	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.972;1.0;1.0;1.0;1.0;0.995;0.995;1.0;1.0;0.998	D;D;D;P;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.98;0.842;1.0;1.0;1.0;1.0;0.98;0.98;0.998;1.0;0.992	T	0.66488	-0.5911	9	0.46703	T	0.11	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	1207;1229;1229;1234;1158;1192;1229;1229;1236;1236;1229;1234;1229	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	1236;1234;1229;1229;840;1236;1192;1229;1207;1229;1229;1234;1158	ENSP00000363076:G1236E;ENSP00000410304:G1234E;ENSP00000378826:G1229E;ENSP00000386693:G840E;ENSP00000378832:G1236E;ENSP00000378820:G1192E;ENSP00000354950:G1229E;ENSP00000378821:G1207E;ENSP00000322604:G1229E;ENSP00000378818:G1229E;ENSP00000412628:G1158E	ENSP00000322604:G1229E	G	-	2	0	PCDH15	55296439	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.818000	0.86416	2.571000	0.86741	0.563000	0.77884	GGG		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	39	0	0	0	1	0	5	39				
NUP37	79023	broad.mit.edu	37	12	102492909	102492909	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:102492909T>G	ENST00000552283.1	-	5	563	c.424A>C	c.(424-426)Agt>Cgt	p.S142R	NUP37_ENST00000251074.1_Missense_Mutation_p.S142R|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	142					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCACTCACACTTGCAATTTCT	0.348																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(424-426)Agt>Cgt		nucleoporin 37kDa							110.0	99.0	103.0					12																	102492909		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102492909T>G	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.424A>C	12.37:g.102492909T>G	ENSP00000448054:p.Ser142Arg					NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.S142R	p.S142R			Q8NFH4	NUP37_HUMAN			5	563	-			142					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.424A>C	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956880	0.73902	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.72615	-0.67;-0.67;-0.67	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.141847	0.64402	D	0.000005	D	0.88676	0.6501	H	0.97365	3.99	0.80722	D	1	P;D	0.61080	0.946;0.989	P;P	0.62089	0.865;0.898	D	0.92380	0.5912	10	0.87932	D	0	-14.624	14.5196	0.67842	0.0:0.0:0.0:1.0	.	142;142	B4DKV8;Q8NFH4	.;NUP37_HUMAN	R	142	ENSP00000448054:S142R;ENSP00000251074:S142R;ENSP00000448086:S142R	ENSP00000251074:S142R	S	-	1	0	NUP37	101017039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.582000	0.60957	2.250000	0.74265	0.482000	0.46254	AGT		0.348	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		5	21	0	0	0	1	0	5	21				
OR4A15	81328	broad.mit.edu	37	11	55136372	55136372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55136372G>T	ENST00000314706.3	+	1	1013	c.1013G>T	c.(1012-1014)gGg>gTg	p.G338V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTTAGCTGGGAAATGGCTG	0.368																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(1012-1014)gGg>gTg		olfactory receptor, family 4, subfamily A, member 15							77.0	79.0	78.0					11																	55136372		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136372G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.1013G>T	11.37:g.55136372G>T	ENSP00000325065:p.Gly338Val						p.G338V	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	1013	+			338					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.1013G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	3.791	-0.043608	0.07452	.	.	ENSG00000181958	ENST00000314706	T	0.18174	2.23	2.7	-5.4	0.02656	.	0.967004	0.08452	N	0.943759	T	0.11836	0.0288	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24764	-1.0151	10	0.35671	T	0.21	.	7.52	0.27622	0.6469:0.1301:0.223:0.0	.	338	Q8NGL6	O4A15_HUMAN	V	338	ENSP00000325065:G338V	ENSP00000325065:G338V	G	+	2	0	OR4A15	54892948	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.127000	0.00819	-1.427000	0.01099	GGG		0.368	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		9	84	1	0	1.12685e-05	1	1.55492e-05	9	84				
PLCL1	5334	broad.mit.edu	37	2	199011586	199011586	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:199011586G>T	ENST00000428675.1	+	6	3586	c.3188G>T	c.(3187-3189)gGa>gTa	p.G1063V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G965V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1063					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCCTGTGGACTGAGTAAA	0.498																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3187-3189)gGa>gTa		phospholipase C-like 1	Quinacrine(DB01103)						96.0	83.0	88.0					2																	199011586		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:199011586G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3188G>T	2.37:g.199011586G>T	ENSP00000402861:p.Gly1063Val					PLCL1_ENST00000437704.2_Missense_Mutation_p.G965V	p.G1063V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			6	3586	+			1063					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.3188G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756896	0.69648	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.19938	2.11;2.17	5.97	5.97	0.96955	.	0.000000	0.56097	D	0.000023	T	0.48677	0.1513	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.22556	-1.0213	9	.	.	.	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	1063;989	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	1063;965	ENSP00000402861:G1063V;ENSP00000414138:G965V	.	G	+	2	0	PLCL1	198719831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.181000	0.71988	2.834000	0.97654	0.650000	0.86243	GGA		0.498	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		8	33	1	0	0.0381472	1	0.0403421	8	33				
CPNE8	144402	broad.mit.edu	37	12	39079366	39079366	+	Silent	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:39079366A>C	ENST00000331366.5	-	16	1293	c.1197T>G	c.(1195-1197)gcT>gcG	p.A399A	CPNE8_ENST00000360449.3_Silent_p.A387A|CPNE8_ENST00000538596.2_Silent_p.A68A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	399	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TCCTGTAATAAGCCTCCATGA	0.398																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1195-1197)gcT>gcG		copine VIII							145.0	148.0	147.0					12																	39079366		2203	4300	6503	SO:0001819	synonymous_variant	144402							g.chr12:39079366A>C	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1197T>G	12.37:g.39079366A>C						CPNE8_ENST00000538596.2_Silent_p.A68A|CPNE8_ENST00000360449.3_Silent_p.A387A	p.A399A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			16	1293	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	399			VWFA.		Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	c.1197T>G	CCDS8733.1																																																																																				0.398	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		8	74	0	0	0	1	0	8	74				
AKR1B15	441282	broad.mit.edu	37	7	134256362	134256362	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:134256362G>C	ENST00000457545.2	+	6	702	c.442G>C	c.(442-444)Gat>Cat	p.D148H	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	148							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACAGACTGGGGATGACTTTTT	0.423																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(442-444)Gat>Cat		aldo-keto reductase family 1, member B15							126.0	134.0	131.0					7																	134256362		2202	4299	6501	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134256362G>C		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.442G>C	7.37:g.134256362G>C	ENSP00000389289:p.Asp148His					AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120H	p.D148H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			6	702	+			148					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.442G>C	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	7.652	0.683024	0.14907	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.19250	2.16;2.16	3.04	-0.424	0.12321	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.24699	0.0599	M	0.74647	2.275	0.09310	N	1	B;P	0.38250	0.369;0.624	B;B	0.39935	0.112;0.314	T	0.18053	-1.0349	9	0.87932	D	0	.	6.7138	0.23292	0.51:0.0:0.49:0.0	.	120;148	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	H	148;120	ENSP00000389289:D148H;ENSP00000397009:D120H	ENSP00000397009:D120H	D	+	1	0	AKR1B15	133906902	0.000000	0.05858	0.015000	0.15790	0.032000	0.12392	0.272000	0.18644	-0.180000	0.10637	-0.491000	0.04670	GAT		0.423	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			4	54	0	0	0	1	0	4	54				
CDH7	1005	broad.mit.edu	37	18	63477204	63477204	+	Missense_Mutation	SNP	A	A	T	rs146356739		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:63477204A>T	ENST00000397968.2	+	3	901	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	CDH7_ENST00000536984.2_Missense_Mutation_p.T159S|CDH7_ENST00000323011.3_Missense_Mutation_p.T159S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGGCCCATACACGGCAGGAGT	0.448																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(475-477)Acg>Tcg		cadherin 7, type 2							89.0	88.0	88.0					18																	63477204		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477204A>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.475A>T	18.37:g.63477204A>T	ENSP00000381058:p.Thr159Ser					CDH7_ENST00000323011.3_Missense_Mutation_p.T159S|CDH7_ENST00000397968.2_Missense_Mutation_p.T159S	p.T159S			Q9ULB5	CADH7_HUMAN			3	1169	+		Esophageal squamous(42;0.129)	159			Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.475A>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.492011	0.26774	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.49432	0.78;0.78;0.78	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.142750	0.49305	D	0.000150	T	0.29850	0.0746	N	0.05487	-0.04	0.35244	D	0.778073	B;B	0.13145	0.007;0.0	B;B	0.11329	0.006;0.001	T	0.30909	-0.9962	10	0.22109	T	0.4	.	16.2193	0.82247	1.0:0.0:0.0:0.0	.	159;159	F5H5X9;Q9ULB5	.;CADH7_HUMAN	S	159	ENSP00000319166:T159S;ENSP00000443030:T159S;ENSP00000381058:T159S	ENSP00000319166:T159S	T	+	1	0	CDH7	61628184	0.515000	0.26210	0.996000	0.52242	0.987000	0.75469	2.669000	0.46825	2.234000	0.73211	0.528000	0.53228	ACG		0.448	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		7	66	0	0	0	1	0	7	66				
ANXA6	309	broad.mit.edu	37	5	150502540	150502540	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:150502540T>C	ENST00000354546.5	-	16	1398	c.1171A>G	c.(1171-1173)Acg>Gcg	p.T391A	ANXA6_ENST00000356496.5_Missense_Mutation_p.T391A|ANXA6_ENST00000521512.1_Missense_Mutation_p.T184A|ANXA6_ENST00000523714.1_Missense_Mutation_p.T359A|ANXA6_ENST00000377751.5_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	391					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCGGTGCGTGATGATATCG	0.572																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1171-1173)Acg>Gcg		annexin A6							156.0	164.0	162.0					5																	150502540		2154	4255	6409	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150502540T>C	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1171A>G	5.37:g.150502540T>C	ENSP00000346550:p.Thr391Ala					ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.T391A|ANXA6_ENST00000521512.1_Missense_Mutation_p.T184A|ANXA6_ENST00000523714.1_Missense_Mutation_p.T359A	p.T391A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1398	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	391					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1171A>G	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	T	9.675	1.147756	0.21288	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T	0.03065	4.06;4.06;4.06;4.06	5.48	4.31	0.51392	Annexin repeat, conserved site (1);	0.217390	0.47852	N	0.000210	T	0.02571	0.0078	N	0.17764	0.52	0.48236	D	0.999616	B;B;B	0.13594	0.003;0.008;0.008	B;B;B	0.19666	0.018;0.02;0.026	T	0.34229	-0.9837	10	0.06236	T	0.91	.	10.4607	0.44578	0.0:0.0778:0.0:0.9222	.	184;391;391	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	A	391;359;391;184;265	ENSP00000346550:T391A;ENSP00000430517:T359A;ENSP00000348889:T391A;ENSP00000430420:T184A	ENSP00000346550:T391A	T	-	1	0	ANXA6	150482733	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	2.568000	0.45965	0.903000	0.36546	0.533000	0.62120	ACG		0.572	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		8	30	0	0	0	1	0	8	30				
PLA2G4C	8605	broad.mit.edu	37	19	48588343	48588343	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:48588343C>A	ENST00000599921.1	-	10	1174	c.817G>T	c.(817-819)Gct>Tct	p.A273S	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A273S|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A273S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A283S			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	273	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)			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)		ATGCTTTTAGCATTAGCAACA	0.378																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(817-819)Gct>Tct		phospholipase A2, group IVC (cytosolic, calcium-independent)							103.0	91.0	95.0					19																	48588343		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.chr19:48588343C>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.817G>T	19.37:g.48588343C>A	ENSP00000469473:p.Ala273Ser					PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A273S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A273S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A283S	p.A273S	NM_001159323.1	NP_001152795.1	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)	10	1144	-		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)	273			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.817G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.229107	0.00280	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04083	3.71;3.71	1.13	-2.18	0.07037	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	7739.340000	0.00166	U	0.000000	T	0.02533	0.0077	N	0.11927	0.2	0.09310	N	1	B;B	0.23650	0.089;0.079	B;B	0.19391	0.025;0.017	T	0.34527	-0.9825	10	0.09338	T	0.73	.	2.3888	0.04373	0.0:0.3933:0.3201:0.2865	.	283;273	B4DI40;Q9UP65	.;PA24C_HUMAN	S	273	ENSP00000346228:A273S;ENSP00000400036:A273S	ENSP00000346228:A273S	A	-	1	0	PLA2G4C	53280155	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.394000	0.02518	-0.627000	0.05589	0.205000	0.17691	GCT		0.378	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			3	19	1	0	0.004672	1	0.00531382	3	19				
UGGT1	56886	broad.mit.edu	37	2	128865619	128865619	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:128865619G>C	ENST00000259253.6	+	4	432	c.385G>C	c.(385-387)Gct>Cct	p.A129P	UGGT1_ENST00000375990.3_Missense_Mutation_p.A105P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	129					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTCTTACTCAGCTACAATCCA	0.428																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(313-315)Gct>Cct		UDP-glucose glycoprotein glucosyltransferase 1							126.0	120.0	122.0					2																	128865619		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128865619G>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.385G>C	2.37:g.128865619G>C	ENSP00000259253:p.Ala129Pro					UGGT1_ENST00000259253.6_Missense_Mutation_p.A129P	p.A105P			Q9NYU2	UGGG1_HUMAN			4	716	+			129					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.313G>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	1.498	-0.552729	0.03996	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.02863	4.13;4.13	5.33	4.44	0.53790	.	0.125811	0.56097	D	0.000039	T	0.02012	0.0063	N	0.12920	0.275	0.49213	D	0.999768	B	0.09022	0.002	B	0.04013	0.001	T	0.32955	-0.9887	10	0.02654	T	1	.	14.8687	0.70437	0.0:0.0:0.8552:0.1448	.	129	Q9NYU2	UGGG1_HUMAN	P	105;129	ENSP00000365158:A105P;ENSP00000259253:A129P	ENSP00000259253:A129P	A	+	1	0	UGGT1	128582089	1.000000	0.71417	0.307000	0.25127	0.522000	0.34438	4.107000	0.57811	1.197000	0.43143	0.563000	0.77884	GCT		0.428	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		5	59	0	0	0	1	0	5	59				
GPC5	2262	broad.mit.edu	37	13	92345617	92345617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:92345617G>A	ENST00000377067.3	+	3	874	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	168					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGATTTTTTGACAGTCTTTT	0.468																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(502-504)Gac>Aac		glypican 5							144.0	147.0	146.0					13																	92345617		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345617G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.502G>A	13.37:g.92345617G>A	ENSP00000366267:p.Asp168Asn						p.D168N	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	874	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	168					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.502G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943648	0.73672	.	.	ENSG00000179399	ENST00000377067	T	0.50001	0.76	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.83223	2.63	0.47476	D	0.999436	P	0.38048	0.616	P	0.47528	0.549	T	0.68546	-0.5380	10	0.56958	D	0.05	.	17.7943	0.88565	0.0:0.0:1.0:0.0	.	168	P78333	GPC5_HUMAN	N	168	ENSP00000366267:D168N	ENSP00000366267:D168N	D	+	1	0	GPC5	91143618	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	5.683000	0.68189	2.437000	0.82529	0.591000	0.81541	GAC		0.468	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		11	61	0	0	0	1	0	11	61				
PTPRN	5798	broad.mit.edu	37	2	220172280	220172280	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:220172280C>A	ENST00000295718.2	-	3	407		c.e3-1		PTPRN_ENST00000409251.3_Splice_Site|PTPRN_ENST00000423636.2_Splice_Site	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N						cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AACAAGCCATCTAAGGGCACA	0.557																																						ENST00000295718.2																			1	Unknown(1)	p.?(1)	breast(1)	breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e3-1		protein tyrosine phosphatase, receptor type, N							48.0	49.0	49.0					2																	220172280		2203	4300	6503	SO:0001630	splice_region_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220172280C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.167-1G>T	2.37:g.220172280C>A						PTPRN_ENST00000409251.3_Splice_Site|PTPRN_ENST00000423636.2_Splice_Site		NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	3	407	-		Renal(207;0.0474)						B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Splice_Site	SNP	ENST00000295718.2	37		CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518342	0.44763	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3985	0.74816	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRN	219880524	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	4.933000	0.63484	2.359000	0.80004	0.460000	0.39030	.		0.557	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		Intron	5	35	1	0	1.23904e-05	1	1.68943e-05	5	35				
ATP2C1	27032	broad.mit.edu	37	3	130674973	130674973	+	Missense_Mutation	SNP	G	G	T	rs200665127		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:130674973G>T	ENST00000510168.1	+	11	1332	c.782G>T	c.(781-783)aGc>aTc	p.S261I	ATP2C1_ENST00000428331.2_Missense_Mutation_p.S261I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S261I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S206I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S261I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S261I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S261I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S245I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S295I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S256I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S245I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	261					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCAGAAGAGCATGGACCTC	0.358									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(781-783)aGc>aTc		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						95.0	88.0	91.0					3																	130674973		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130674973G>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.782G>T	3.37:g.130674973G>T	ENSP00000427461:p.Ser261Ile					ATP2C1_ENST00000359644.3_Missense_Mutation_p.S261I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.S245I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S261I|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S261I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S295I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S256I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S245I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S206I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S261I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S261I	p.S261I			P98194	AT2C1_HUMAN			11	1332	+			261					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.782G>T	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.018087|5.018087	0.93404|0.93404	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90788	.|-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.88|5.88	5.88|5.88	0.94601|0.94601	.|ATPase, P-type, ATPase-associated domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96713|0.96713	0.8927|0.8927	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;0.993;1.0;0.993;0.999;1.0	.|D;D;D;D;D;D;D	.|0.79108	.|0.992;0.99;0.962;0.992;0.962;0.986;0.992	D|D	0.96762|0.96762	0.9562|0.9562	5|10	.|0.66056	.|D	.|0.02	.|.	20.2228|20.2228	0.98330|0.98330	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|295;256;295;261;295;261;261	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	S|I	215|245;206;245;295;256;261;261;245;245;261;261;261;261;260	.|ENSP00000423774:S245I;ENSP00000425320:S206I;ENSP00000421326:S245I;ENSP00000376914:S295I;ENSP00000432956:S256I;ENSP00000427461:S261I;ENSP00000424783:S261I;ENSP00000423330:S245I;ENSP00000422872:S245I;ENSP00000329664:S261I;ENSP00000395809:S261I;ENSP00000352665:S261I;ENSP00000402677:S261I	.|ENSP00000329664:S261I	A|S	+|+	1|2	0|0	ATP2C1|ATP2C1	132157663|132157663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.789000|2.789000	0.95967|0.95967	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.358	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		7	55	1	0	8.12818e-05	1	0.000104036	7	55				
RNF17	56163	broad.mit.edu	37	13	25435502	25435502	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25435502T>C	ENST00000255324.5	+	27	3923	c.3871T>C	c.(3871-3873)Tgt>Cgt	p.C1291R	RNF17_ENST00000381921.1_Missense_Mutation_p.C1291R|RNF17_ENST00000339524.3_Missense_Mutation_p.C343R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1291					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGTATTCCTTGTCAGCTCCA	0.299																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3871-3873)Tgt>Cgt		ring finger protein 17							219.0	222.0	221.0					13																	25435502		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25435502T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3871T>C	13.37:g.25435502T>C	ENSP00000255324:p.Cys1291Arg					RNF17_ENST00000339524.3_Missense_Mutation_p.C343R|RNF17_ENST00000381921.1_Missense_Mutation_p.C1291R	p.C1291R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	27	3923	+		Lung SC(185;0.0225)|Breast(139;0.077)	1291					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.3871T>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624109	0.66901	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.99	4.99	0.66335	Maternal tudor protein (1);	0.081920	0.50627	D	0.000119	T	0.30008	0.0751	L	0.29908	0.895	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;0.998;1.0	T	0.05338	-1.0891	10	0.87932	D	0	-11.1931	13.7061	0.62639	0.0:0.0:0.0:1.0	.	1287;343;1291;1291	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	R	1291;1291;615;343	ENSP00000255324:C1291R;ENSP00000371346:C1291R;ENSP00000388892:C615R;ENSP00000344776:C343R	ENSP00000255324:C1291R	C	+	1	0	RNF17	24333502	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	6.371000	0.73119	1.871000	0.54225	0.528000	0.53228	TGT		0.299	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		20	86	0	0	0	1	0	20	86				
OR4P4	81300	broad.mit.edu	37	11	55406720	55406720	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55406720T>A	ENST00000314612.2	+	1	887	c.887T>A	c.(886-888)aTg>aAg	p.M296K		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	296						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)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAGAACGCCATGAGGAAAGTG	0.388																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(886-888)aTg>aAg		olfactory receptor, family 4, subfamily P, member 4							126.0	123.0	124.0					11																	55406720		2180	3998	6178	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406720T>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.887T>A	11.37:g.55406720T>A	ENSP00000324831:p.Met296Lys						p.M296K	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	887	+			296						Missense_Mutation	SNP	ENST00000314612.2	37	c.887T>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506409	0.26949	.	.	ENSG00000181927	ENST00000314612	T	0.37752	1.18	5.42	5.42	0.78866	.	1.453210	0.04383	N	0.361163	T	0.47135	0.1429	M	0.70595	2.14	0.09310	N	0.999999	B	0.27380	0.177	B	0.28709	0.093	T	0.48139	-0.9061	10	0.87932	D	0	-2.7641	13.4254	0.61022	0.0:0.0:0.0:1.0	.	296	Q8NGL7	OR4P4_HUMAN	K	296	ENSP00000324831:M296K	ENSP00000324831:M296K	M	+	2	0	OR4P4	55163296	0.284000	0.24287	0.003000	0.11579	0.011000	0.07611	3.786000	0.55431	2.044000	0.60594	0.519000	0.50382	ATG		0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		9	19	0	0	0	1	0	9	19				
CATSPER2P1	440278	broad.mit.edu	37	15	44029037	44029037	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:44029037C>A	ENST00000381680.2	-	0	747				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		TCCTTACCAACATGGTAACAA	0.388																																						ENST00000381680.2																			0																																																			440278							g.chr15:44029037C>A	BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44029037C>A								NR_002318.2						0	747	-									RNA	SNP	ENST00000381680.2	37																																																																																						0.388	CATSPER2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000133242.1	NR_002318		10	44	1	0	0.361761	1	0.366951	10	44				
C10orf107	219621	broad.mit.edu	37	10	63450371	63450371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:63450371G>A	ENST00000330194.2	+	4	585	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	94										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					AATTGTGATAGGAACTGAGGT	0.348																																						ENST00000330194.2																			0				breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8						c.(280-282)Gga>Aga		chromosome 10 open reading frame 107							123.0	123.0	123.0					10																	63450371		2203	4299	6502	SO:0001583	missense	219621							g.chr10:63450371G>A	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.280G>A	10.37:g.63450371G>A	ENSP00000328698:p.Gly94Arg						p.G94R	NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN			4	585	+	Prostate(12;0.016)		94					Q5T1B8	Missense_Mutation	SNP	ENST00000330194.2	37	c.280G>A	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826065	0.71143	.	.	ENSG00000183346	ENST00000330194	.	.	.	5.48	5.48	0.80851	.	0.245514	0.36374	N	0.002630	T	0.78521	0.4296	M	0.78637	2.42	0.36399	D	0.863021	D	0.89917	1.0	D	0.97110	1.0	D	0.83377	0.0010	9	0.59425	D	0.04	-20.6455	13.4566	0.61201	0.0816:0.0:0.9184:0.0	.	94	Q8IVU9	CJ107_HUMAN	R	94	.	ENSP00000328698:G94R	G	+	1	0	C10orf107	63120377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.470000	0.53100	2.738000	0.93877	0.591000	0.81541	GGA		0.348	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		7	39	0	0	0	1	0	7	39				
MYH1	4619	broad.mit.edu	37	17	10419286	10419286	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10419286G>A	ENST00000226207.5	-	5	556	c.462C>T	c.(460-462)caC>caT	p.H154H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	154	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAAGATGTGGGGTGGGG	0.473																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(460-462)caC>caT		myosin, heavy chain 1, skeletal muscle, adult							161.0	164.0	163.0					17																	10419286		2203	4299	6502	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419286G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.462C>T	17.37:g.10419286G>A						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.H154H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			5	556	-			154			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.462C>T	CCDS11155.1																																																																																				0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		8	84	0	0	0	1	0	8	84				
PCDH11X	27328	broad.mit.edu	37	X	91090551	91090551	+	Nonsense_Mutation	SNP	C	C	A	rs200451872		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:91090551C>A	ENST00000373094.1	+	1	893	c.48C>A	c.(46-48)tgC>tgA	p.C16*	PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.C16*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	16					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C16C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCTAGCATGCGTGGTGTTCC	0.478																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			2	Substitution - coding silent(2)	p.C16C(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(46-48)tgC>tgA		protocadherin 11 X-linked							137.0	106.0	116.0					X																	91090551		2203	4300	6503	SO:0001587	stop_gained	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090551C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.48C>A	X.37:g.91090551C>A	ENSP00000362186:p.Cys16*					PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.C16*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.C16*	p.C16*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	893	+			16					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	c.48C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123026	0.56613	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	3.93	-3.09	0.05331	.	0.065228	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0991	0.30846	0.0:0.2574:0.1177:0.625	.	.	.	.	X	16	.	ENSP00000298274:C16X	C	+	3	2	PCDH11X	90977207	0.189000	0.23263	0.976000	0.42696	0.392000	0.30506	-0.370000	0.07523	-0.825000	0.04290	-0.577000	0.04142	TGC		0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		9	39	1	0	0.000274275	1	0.00034016	9	39				
DAAM2	23500	broad.mit.edu	37	6	39835559	39835559	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:39835559G>T	ENST00000398904.2	+	6	884	c.702G>T	c.(700-702)aaG>aaT	p.K234N	DAAM2_ENST00000538976.1_Missense_Mutation_p.K234N|DAAM2_ENST00000274867.4_Missense_Mutation_p.K234N			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	234	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTGGCCACAAGAAGGTGCTGC	0.617																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(700-702)aaG>aaT		dishevelled associated activator of morphogenesis 2							22.0	23.0	22.0					6																	39835559		2197	4295	6492	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39835559G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.702G>T	6.37:g.39835559G>T	ENSP00000381876:p.Lys234Asn					DAAM2_ENST00000274867.4_Missense_Mutation_p.K234N|DAAM2_ENST00000398904.2_Missense_Mutation_p.K234N	p.K234N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			6	884	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		234			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.702G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414578	0.83449	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.87650	-2.28;-2.28;-2.28	5.52	2.63	0.31362	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.056000	0.64402	D	0.000002	D	0.88489	0.6450	M	0.87328	2.875	0.80722	D	1	D;D	0.56746	0.971;0.977	P;P	0.57057	0.714;0.812	D	0.87986	0.2746	10	0.87932	D	0	.	6.5108	0.22220	0.2221:0.1328:0.6452:0.0	.	234;234	G5EA45;Q86T65	.;DAAM2_HUMAN	N	234	ENSP00000274867:K234N;ENSP00000381876:K234N;ENSP00000437808:K234N	ENSP00000274867:K234N	K	+	3	2	DAAM2	39943537	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.560000	0.36331	0.697000	0.31718	0.561000	0.74099	AAG		0.617	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			4	19	1	0	0.00909568	1	0.00998677	4	19				
BDKRB1	623	broad.mit.edu	37	14	96730474	96730474	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:96730474G>A	ENST00000216629.6	+	3	1061	c.455G>A	c.(454-456)aGg>aAg	p.R152K	BDKRB1_ENST00000553356.1_Missense_Mutation_p.R152K|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	152					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAGCGGCGGAGGCAGGCCCGG	0.637																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(454-456)aGg>aAg		bradykinin receptor B1							40.0	43.0	42.0					14																	96730474		2203	4300	6503	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730474G>A	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.455G>A	14.37:g.96730474G>A	ENSP00000216629:p.Arg152Lys					BDKRB1_ENST00000553356.1_Missense_Mutation_p.R152K|RP11-404P21.3_ENST00000553638.1_RNA	p.R152K	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1061	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	152					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.455G>A	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627500	0.14257	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.37915	1.17;1.17	4.95	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.224065	0.31210	U	0.008052	T	0.25644	0.0624	L	0.54965	1.715	0.09310	N	1	B;B	0.24092	0.097;0.016	B;B	0.25405	0.036;0.06	T	0.16837	-1.0389	10	0.11182	T	0.66	-2.1252	3.7568	0.08588	0.0952:0.1543:0.5802:0.1702	.	152;152	G3V4Y2;P46663	.;BKRB1_HUMAN	K	152	ENSP00000216629:R152K;ENSP00000452064:R152K	ENSP00000216629:R152K	R	+	2	0	BDKRB1	95800227	0.000000	0.05858	0.063000	0.19743	0.901000	0.52897	0.060000	0.14342	1.011000	0.39340	0.462000	0.41574	AGG		0.637	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			7	40	0	0	0	1	0	7	40				
SALL1	6299	broad.mit.edu	37	16	51175462	51175462	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:51175462A>T	ENST00000251020.4	-	2	704	c.671T>A	c.(670-672)cTg>cAg	p.L224Q	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.L127Q	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	224					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGACGGCCAGCTTGCCCCC	0.582																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(379-381)cTg>cAg		spalt-like transcription factor 1							67.0	72.0	70.0					16																	51175462		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175462A>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.671T>A	16.37:g.51175462A>T	ENSP00000251020:p.Leu224Gln					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L224Q	p.L127Q	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	811	-		all_cancers(37;0.0322)	224					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.380T>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948749	0.34377	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07908	3.15;3.17	5.37	-0.97	0.10306	.	0.342659	0.31358	N	0.007793	T	0.06142	0.0159	L	0.38175	1.15	0.50313	D	0.999862	B	0.31227	0.314	B	0.32149	0.141	T	0.32929	-0.9888	10	0.54805	T	0.06	.	6.1745	0.20437	0.6112:0.1219:0.2669:0.0	.	224	Q9NSC2	SALL1_HUMAN	Q	224;127;188	ENSP00000251020:L224Q;ENSP00000407914:L127Q	ENSP00000251020:L224Q	L	-	2	0	SALL1	49732963	1.000000	0.71417	0.969000	0.41365	0.511000	0.34104	5.345000	0.65987	-0.518000	0.06452	-0.441000	0.05720	CTG		0.582	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		10	63	0	0	0	1	0	10	63				
PRUNE	58497	broad.mit.edu	37	1	151006322	151006322	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:151006322A>G	ENST00000271620.3	+	8	1130	c.974A>G	c.(973-975)aAg>aGg	p.K325R	PRUNE_ENST00000368934.1_Missense_Mutation_p.K90R|BNIPL_ENST00000295294.7_5'Flank|BNIPL_ENST00000368931.3_5'Flank|PRUNE_ENST00000271619.8_Missense_Mutation_p.K113R|PRUNE_ENST00000368936.1_Missense_Mutation_p.K143R|PRUNE_ENST00000368937.1_Missense_Mutation_p.K90R|PRUNE_ENST00000368935.1_Missense_Mutation_p.K40R	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	325						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACCCCTGAAGCTGACCCCT	0.527																																						ENST00000271620.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(973-975)aAg>aGg		prune exopolyphosphatase							118.0	120.0	120.0					1																	151006322		2203	4300	6503	SO:0001583	missense	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:151006322A>G	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.974A>G	1.37:g.151006322A>G	ENSP00000271620:p.Lys325Arg					PRUNE_ENST00000368935.1_Missense_Mutation_p.K40R|PRUNE_ENST00000368936.1_Missense_Mutation_p.K143R|PRUNE_ENST00000368937.1_Missense_Mutation_p.K90R|PRUNE_ENST00000271619.8_Missense_Mutation_p.K113R|PRUNE_ENST00000368934.1_Missense_Mutation_p.K90R	p.K325R	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1130	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		325					B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	c.974A>G	CCDS977.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106048	0.37145	.	.	ENSG00000143363	ENST00000271620;ENST00000302413;ENST00000271619;ENST00000368937;ENST00000431193;ENST00000368936;ENST00000368935;ENST00000368934	T;T;T;T;T;T;T	0.32515	1.48;1.47;1.46;1.45;1.48;1.47;1.46	5.25	4.12	0.48240	DHHA2 (1);	0.382666	0.27673	N	0.018340	T	0.07052	0.0179	N	0.17474	0.49	0.28983	N	0.888491	B;B	0.18741	0.003;0.03	B;B	0.17098	0.005;0.017	T	0.23726	-1.0180	10	0.32370	T	0.25	.	9.2026	0.37268	0.9144:0.0:0.0856:0.0	.	113;325	E9PCU1;Q86TP1	.;PRUNE_HUMAN	R	325;258;113;90;90;143;40;90	ENSP00000271620:K325R;ENSP00000271619:K113R;ENSP00000357933:K90R;ENSP00000392632:K90R;ENSP00000357932:K143R;ENSP00000357931:K40R;ENSP00000357930:K90R	ENSP00000271619:K113R	K	+	2	0	PRUNE	149272946	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	2.431000	0.44775	1.126000	0.42016	0.477000	0.44152	AAG		0.527	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		12	78	0	0	0	1	0	12	78				
SMCP	4184	broad.mit.edu	37	1	152856902	152856902	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152856902T>A	ENST00000368765.3	+	2	154	c.4T>A	c.(4-6)Tgt>Agt	p.C2S		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	2					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	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)			TCAGAAGATGTGTGACCAGAC	0.443																																						ENST00000368765.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(4-6)Tgt>Agt		sperm mitochondria-associated cysteine-rich protein							64.0	60.0	61.0					1																	152856902		2203	4300	6503	SO:0001583	missense	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152856902T>A	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.4T>A	1.37:g.152856902T>A	ENSP00000357754:p.Cys2Ser						p.C2S	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	154	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		2					Q96A42	Missense_Mutation	SNP	ENST00000368765.3	37	c.4T>A	CCDS1029.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826837	0.32329	.	.	ENSG00000163206	ENST00000368765	T	0.58506	0.33	4.13	-0.168	0.13343	.	0.660342	0.12620	N	0.453144	T	0.21387	0.0515	N	0.25201	0.72	0.24960	N	0.991735	B	0.27625	0.183	B	0.28011	0.085	T	0.24941	-1.0146	10	0.87932	D	0	-0.0022	8.1552	0.31165	0.6303:0.0:0.0:0.3697	.	2	P49901	MCSP_HUMAN	S	2	ENSP00000357754:C2S	ENSP00000357754:C2S	C	+	1	0	SMCP	151123526	1.000000	0.71417	0.985000	0.45067	0.050000	0.14768	0.243000	0.18106	-0.050000	0.13356	0.533000	0.62120	TGT		0.443	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		9	46	0	0	0	1	0	9	46				
GPR158	57512	broad.mit.edu	37	10	25887832	25887832	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:25887832C>A	ENST00000376351.3	+	11	3636	c.3277C>A	c.(3277-3279)Cca>Aca	p.P1093T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1093					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAAGACTCCAGTTCTCCC	0.522																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3277-3279)Cca>Aca		G protein-coupled receptor 158							75.0	81.0	79.0					10																	25887832		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887832C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3277C>A	10.37:g.25887832C>A	ENSP00000365529:p.Pro1093Thr					GPR158_ENST00000490549.1_3'UTR	p.P1093T	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3636	+			1093					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3277C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	2.003	-0.429047	0.04701	.	.	ENSG00000151025	ENST00000376351	T	0.59772	0.24	5.85	3.97	0.46021	.	0.535437	0.18279	N	0.146089	T	0.42494	0.1205	N	0.24115	0.695	0.23577	N	0.997372	B	0.19817	0.039	B	0.15870	0.014	T	0.26780	-1.0093	10	0.37606	T	0.19	.	11.6104	0.51055	0.1406:0.7247:0.1348:0.0	.	1093	Q5T848	GP158_HUMAN	T	1093	ENSP00000365529:P1093T	ENSP00000365529:P1093T	P	+	1	0	GPR158	25927838	0.706000	0.27856	0.144000	0.22314	0.032000	0.12392	1.976000	0.40579	0.775000	0.33450	-0.175000	0.13238	CCA		0.522	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		8	66	1	0	5.18039e-06	1	7.33556e-06	8	66				
SOX30	11063	broad.mit.edu	37	5	157053715	157053715	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:157053715C>A	ENST00000265007.6	-	5	2236	c.1895G>T	c.(1894-1896)aGt>aTt	p.S632I	SOX30_ENST00000519442.1_Missense_Mutation_p.S327I|SOX30_ENST00000311371.5_Missense_Mutation_p.V468F	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	632	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAGGCCGACTGTAAGGGCA	0.423																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(1894-1896)aGt>aTt		SRY (sex determining region Y)-box 30							44.0	45.0	45.0					5																	157053715		2201	4296	6497	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157053715C>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1895G>T	5.37:g.157053715C>A	ENSP00000265007:p.Ser632Ile					SOX30_ENST00000519442.1_Missense_Mutation_p.S327I|SOX30_ENST00000311371.5_Missense_Mutation_p.V468F	p.S632I	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	2236	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	632			Pro-rich.		O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.1895G>T	CCDS4339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.45|10.45	1.352696|1.352696	0.24512|0.24512	.|.	.|.	ENSG00000039600|ENSG00000039600	ENST00000265007;ENST00000519442|ENST00000311371	D;D|D	0.98732|0.97994	-5.0;-5.1|-4.65	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.98611|0.98611	0.9535|0.9535	.|.	.|.	.|.	0.44789|0.44789	D|D	0.997792|0.997792	D;D|D	0.89917|0.76494	0.998;1.0|0.999	P;D|D	0.69307|0.68943	0.896;0.963|0.961	D|D	0.98905|0.98905	1.0778|1.0778	9|8	0.87932|0.51188	D|T	0|0.08	.|.	18.0854|18.0854	0.89456|0.89456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	327;632|468	B4DXW7;O94993|O94993-2	.;SOX30_HUMAN|.	I|F	632;327|468	ENSP00000265007:S632I;ENSP00000427984:S327I|ENSP00000309343:V468F	ENSP00000265007:S632I|ENSP00000309343:V468F	S|V	-|-	2|1	0|0	SOX30|SOX30	156986293|156986293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.686000|0.686000	0.39977|0.39977	4.973000|4.973000	0.63763|0.63763	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	AGT|GTC		0.423	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		3	30	1	0	0.115264	1	0.120372	3	30				
MOG	4340	broad.mit.edu	37	6	29640904	29640904	+	IGR	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:29640904C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.R308S|ZFP57_ENST00000488757.1_Missense_Mutation_p.R328S|ZFP57_ENST00000376881.3_Missense_Mutation_p.R308S	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCCTGGGACCTGGCCACTG	0.557																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(922-924)agG>agT		ZFP57 zinc finger protein							119.0	131.0	127.0					6																	29640904		1220	2506	3726	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640904C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640904C>A						ZFP57_ENST00000376881.3_Missense_Mutation_p.R308S|ZFP57_ENST00000488757.1_Missense_Mutation_p.R328S	p.R308S			Q9NU63	ZFP57_HUMAN			6	1335	-			244					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.924G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	0.732	-0.779434	0.02929	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05139	3.49;3.73;3.73	3.57	1.77	0.24775	.	0.920182	0.09147	N	0.842195	T	0.02156	0.0067	L	0.51422	1.61	0.09310	N	1	B;B	0.29432	0.244;0.244	B;B	0.25759	0.063;0.063	T	0.44651	-0.9314	10	0.52906	T	0.07	-0.1208	5.5918	0.17305	0.0:0.7472:0.0:0.2528	.	328;308	Q9NU63-3;Q9NU63-2	.;.	S	328;308;308	ENSP00000418259:R328S;ENSP00000366078:R308S;ENSP00000366080:R308S	ENSP00000366078:R308S	R	-	3	2	ZFP57	29748883	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.101000	0.10973	0.491000	0.27793	0.563000	0.77884	AGG		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		16	101	1	0	1.52009e-12	1	2.54456e-12	16	101				
TRMT6	51605	broad.mit.edu	37	20	5921954	5921954	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5921954G>A	ENST00000203001.2	-	9	1280	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.L214L	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	384					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AAAGACAGCAGCAGGGGAGTG	0.448																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(1150-1152)Ctg>Ttg		tRNA methyltransferase 6 homolog (S. cerevisiae)							102.0	107.0	105.0					20																	5921954		2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5921954G>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1150C>T	20.37:g.5921954G>A						TRMT6_ENST00000453074.2_Silent_p.L214L|TRMT6_ENST00000473131.1_5'UTR	p.L384L	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			9	1280	-			384					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.1150C>T	CCDS13093.1																																																																																				0.448	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			8	63	0	0	0	1	0	8	63				
PLEKHA5	54477	broad.mit.edu	37	12	19436567	19436567	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:19436567T>C	ENST00000299275.6	+	11	1655	c.1649T>C	c.(1648-1650)aTa>aCa	p.I550T	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I550T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.I308T|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.I550T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I442T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I556T|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I442T|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I550T	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	550					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CACGGGTCAATAGCTGCTTAT	0.483																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1648-1650)aTa>aCa		pleckstrin homology domain containing, family A member 5							94.0	93.0	93.0					12																	19436567		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19436567T>C	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1649T>C	12.37:g.19436567T>C	ENSP00000299275:p.Ile550Thr					PLEKHA5_ENST00000309364.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.I442T|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.I550T|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.I550T|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.I556T|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.I550T|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.I550T|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.I308T|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.I442T	p.I550T	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			11	1653	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		550					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1649T>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550522	0.27739	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	3.99	2.85	0.33270	.	0.418550	0.26176	N	0.025885	T	0.10208	0.0250	N	0.22421	0.69	0.09310	N	0.999991	B;B;B;B;P;B;P	0.37914	0.23;0.21;0.134;0.215;0.611;0.282;0.547	B;B;B;B;B;B;B	0.36289	0.133;0.108;0.05;0.034;0.075;0.08;0.221	T	0.20405	-1.0276	10	0.28530	T	0.3	-0.9114	8.6602	0.34088	0.0:0.0933:0.0:0.9067	.	550;442;442;556;556;550;550	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	T	550;550;550;557;550;556;550;308;550;442;442;442	ENSP00000325155:I550T;ENSP00000347560:I550T;ENSP00000352104:I550T;ENSP00000311239:I550T;ENSP00000404296:I556T;ENSP00000299275:I550T;ENSP00000440611:I308T;ENSP00000439673:I550T;ENSP00000400411:I442T;ENSP00000439837:I442T;ENSP00000440371:I442T	ENSP00000299275:I550T	I	+	2	0	PLEKHA5	19327834	0.990000	0.36364	0.197000	0.23402	0.883000	0.51084	4.212000	0.58514	0.711000	0.32018	0.533000	0.62120	ATA		0.483	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		8	61	0	0	0	1	0	8	61				
CCL20	6364	broad.mit.edu	37	2	228680244	228680244	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228680244C>A	ENST00000358813.4	+	2	209	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	CCL20_ENST00000409189.3_Silent_p.R50R|CCL20_ENST00000473642.1_3'UTR			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	51					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GGGCTTCACACGGCAGCTGGC	0.358																																						ENST00000409189.3																			0				cervix(1)|lung(2)	3						c.(148-150)Cgg>Agg		chemokine (C-C motif) ligand 20							109.0	117.0	114.0					2																	228680244		2203	4300	6503	SO:0001819	synonymous_variant	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228680244C>A	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.151C>A	2.37:g.228680244C>A						CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000358813.4_Silent_p.R51R	p.R50R	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	2	218	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	51					Q53S51|Q99664	Silent	SNP	ENST00000358813.4	37	c.148C>A	CCDS2469.1																																																																																				0.358	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		8	55	1	0	0.0381472	1	0.0403421	8	55				
SLC43A1	8501	broad.mit.edu	37	11	57256844	57256844	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:57256844G>A	ENST00000278426.3	-	12	1570	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	SLC43A1_ENST00000533515.1_5'Flank|SLC43A1_ENST00000528450.1_Silent_p.S405S	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGGTCTGATGGATTTGGTAG	0.572																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1213-1215)tcC>tcT		solute carrier family 43 (amino acid system L transporter), member 1							416.0	327.0	357.0					11																	57256844		2201	4296	6497	SO:0001819	synonymous_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256844G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1215C>T	11.37:g.57256844G>A						SLC43A1_ENST00000528450.1_Silent_p.S405S	p.S405S	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			12	1570	-			405						Silent	SNP	ENST00000278426.3	37	c.1215C>T	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563584	0.27915	.	.	ENSG00000149150	ENST00000525764	.	.	.	4.95	0.574	0.17368	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29119	-1.0022	4	.	.	.	-13.7664	9.7833	0.40662	0.089:0.4639:0.447:0.0	.	.	.	.	L	108	.	.	P	-	2	0	SLC43A1	57013420	0.001000	0.12720	0.009000	0.14445	0.084000	0.17831	-0.146000	0.10250	0.124000	0.18369	0.563000	0.77884	CCA		0.572	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		12	78	0	0	0	1	0	12	78				
SMARCD1	6602	broad.mit.edu	37	12	50488229	50488229	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50488229G>A	ENST00000394963.4	+	10	1541	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P	SMARCD1_ENST00000381513.4_Silent_p.P381P|SMARCD1_ENST00000548573.1_Silent_p.P179P	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GTGTTGACCCGAATGATCAGA	0.448																																						ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1141-1143)ccG>ccA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1							178.0	176.0	177.0					12																	50488229		2203	4300	6503	SO:0001819	synonymous_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50488229G>A	U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1143G>A	12.37:g.50488229G>A						SMARCD1_ENST00000548573.1_Silent_p.P179P|SMARCD1_ENST00000381513.4_Silent_p.P381P	p.P381P	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			10	1541	+			381			Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.			Silent	SNP	ENST00000394963.4	37	c.1143G>A	CCDS8797.2																																																																																				0.448	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076		6	104	0	0	0	1	0	6	104				
GUCY1A3	2982	broad.mit.edu	37	4	156618270	156618270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156618270C>A	ENST00000296518.7	+	3	460	c.251C>A	c.(250-252)cCa>cAa	p.P84Q	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P84Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	84					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATTTTCCCAGAGGTGAGT	0.368																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(250-252)cCa>cAa		guanylate cyclase 1, soluble, alpha 3							111.0	112.0	112.0					4																	156618270		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156618270C>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.251C>A	4.37:g.156618270C>A	ENSP00000296518:p.Pro84Gln					GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P84Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P84Q	p.P84Q			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	3	460	+	all_hematologic(180;0.24)	Renal(120;0.0854)	84					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.251C>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751315	0.89753	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.08;-3.38;-3.38;-3.38	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000006	D	0.96722	0.8930	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96112	0.9078	10	0.54805	T	0.06	.	20.3334	0.98727	0.0:1.0:0.0:0.0	.	84;84;84	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	Q	84	ENSP00000424361:P84Q;ENSP00000421493:P84Q;ENSP00000426968:P84Q;ENSP00000412201:P84Q;ENSP00000296518:P84Q;ENSP00000426040:P84Q	ENSP00000296518:P84Q	P	+	2	0	GUCY1A3	156837720	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	6.707000	0.74654	2.818000	0.97014	0.591000	0.81541	CCA		0.368	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			6	45	1	0	5.9392e-07	1	8.86059e-07	6	45				
PCDH17	27253	broad.mit.edu	37	13	58299101	58299101	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58299101A>T	ENST00000377918.3	+	4	3179	c.3153A>T	c.(3151-3153)aaA>aaT	p.K1051N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1051					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTCAACAAAAGGCTCCCTGG	0.537																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3151-3153)aaA>aaT		protocadherin 17							77.0	76.0	76.0					13																	58299101		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299101A>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3153A>T	13.37:g.58299101A>T	ENSP00000367151:p.Lys1051Asn						p.K1051N	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3179	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1051					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3153A>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851024	0.32699	.	.	ENSG00000118946	ENST00000377918	T	0.58060	0.36	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	L	0.43152	1.355	0.52501	D	0.999959	D	0.71674	0.998	D	0.76071	0.987	T	0.63166	-0.6698	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1051	O14917	PCD17_HUMAN	N	1051	ENSP00000367151:K1051N	.	K	+	3	2	PCDH17	57197102	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	3.434000	0.52841	2.326000	0.78906	0.533000	0.62120	AAA		0.537	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		8	60	0	0	0	1	0	8	60				
ACVR1B	91	broad.mit.edu	37	12	52377833	52377833	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52377833G>T	ENST00000257963.4	+	5	939	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000415850.2_Missense_Mutation_p.G288W|ACVR1B_ENST00000542485.1_Missense_Mutation_p.G236W|ACVR1B_ENST00000541224.1_Missense_Mutation_p.G329W|ACVR1B_ENST00000426655.2_Missense_Mutation_p.G288W	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TCATGAGCACGGGTCCCTGTT	0.488																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(862-864)Ggg>Tgg		activin A receptor, type IB	Adenosine triphosphate(DB00171)						115.0	95.0	102.0					12																	52377833		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52377833G>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.862G>T	12.37:g.52377833G>T	ENSP00000257963:p.Gly288Trp					ACVR1B_ENST00000541224.1_Missense_Mutation_p.G329W|ACVR1B_ENST00000542485.1_Missense_Mutation_p.G236W|ACVR1B_ENST00000426655.2_Missense_Mutation_p.G288W|ACVR1B_ENST00000415850.2_Missense_Mutation_p.G288W|ACVR1B_ENST00000563121.1_3'UTR	p.G288W	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	5	939	+			288			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.862G>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306448	0.81247	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	H	0.99897	4.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98304	1.0520	10	0.87932	D	0	.	19.2527	0.93932	0.0:0.0:1.0:0.0	.	329;288;288;288	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	W	288;329;288;288;236	ENSP00000257963:G288W;ENSP00000442656:G329W;ENSP00000390477:G288W;ENSP00000397550:G288W;ENSP00000442885:G236W	ENSP00000257963:G288W	G	+	1	0	ACVR1B	50664100	1.000000	0.71417	0.965000	0.40720	0.716000	0.41182	9.836000	0.99456	2.621000	0.88768	0.655000	0.94253	GGG		0.488	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		4	26	1	0	0.00909568	1	0.00998677	4	26				
ZNF460	10794	broad.mit.edu	37	19	57796025	57796025	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57796025G>T	ENST00000360338.3	+	2	459	c.137G>T	c.(136-138)tGt>tTt	p.C46F	ZNF460_ENST00000537645.1_Missense_Mutation_p.C5F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGGAGACCTGTGGGCTTCTG	0.582																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(136-138)tGt>tTt		zinc finger protein 460							150.0	127.0	134.0					19																	57796025		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57796025G>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.137G>T	19.37:g.57796025G>T	ENSP00000353491:p.Cys46Phe					ZNF460_ENST00000537645.1_Missense_Mutation_p.C5F	p.C46F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	459	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	46			KRAB.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.137G>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771980	0.49680	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.06449	3.3;4.85	2.57	1.5	0.22942	Krueppel-associated box (4);	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.27384	N	0.955345	P	0.35077	0.483	B	0.34779	0.189	T	0.41052	-0.9530	9	0.07990	T	0.79	.	10.8129	0.46557	0.0:0.1955:0.8045:0.0	.	46	Q14592	ZN460_HUMAN	F	5;46	ENSP00000446167:C5F;ENSP00000353491:C46F	ENSP00000353491:C46F	C	+	2	0	ZNF460	62487837	0.000000	0.05858	0.274000	0.24659	0.978000	0.69477	-0.274000	0.08537	0.614000	0.30107	0.561000	0.74099	TGT		0.582	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		6	66	1	0	3.59834e-05	1	4.79257e-05	6	66				
LIPH	200879	broad.mit.edu	37	3	185252694	185252694	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:185252694T>C	ENST00000296252.4	-	2	417	c.276A>G	c.(274-276)gtA>gtG	p.V92V	LIPH_ENST00000424591.2_Silent_p.V92V	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	92					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAAACCCTTTACTAAGTCAT	0.438																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(274-276)gtA>gtG		lipase, member H							130.0	124.0	126.0					3																	185252694		2203	4300	6503	SO:0001819	synonymous_variant	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185252694T>C	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.276A>G	3.37:g.185252694T>C						LIPH_ENST00000424591.2_Silent_p.V92V	p.V92V	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		2	417	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		92					A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	37	c.276A>G	CCDS3272.1																																																																																				0.438	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			12	118	0	0	0	1	0	12	118				
PGAM2	5224	broad.mit.edu	37	7	44102488	44102488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:44102488C>T	ENST00000297283.3	-	3	694	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	213					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						ATGGGGATCCCCGTGGGCAGG	0.577																																						ENST00000297283.3																			0				large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						c.(637-639)Ggg>Agg		phosphoglycerate mutase 2 (muscle)							151.0	120.0	130.0					7																	44102488		2203	4300	6503	SO:0001583	missense	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44102488C>T		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.637G>A	7.37:g.44102488C>T	ENSP00000297283:p.Gly213Arg						p.G213R	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN			3	694	-			213						Missense_Mutation	SNP	ENST00000297283.3	37	c.637G>A	CCDS34624.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787806	0.90367	.	.	ENSG00000164708	ENST00000297283	D	0.82711	-1.64	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95367	0.8496	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97501	1.0060	10	0.87932	D	0	-49.9182	15.8005	0.78450	0.0:1.0:0.0:0.0	.	213	P15259	PGAM2_HUMAN	R	213	ENSP00000297283:G213R	ENSP00000297283:G213R	G	-	1	0	PGAM2	44069013	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.708000	0.84633	2.416000	0.81992	0.456000	0.33151	GGG		0.577	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			6	24	0	0	0	1	0	6	24				
SLITRK2	84631	broad.mit.edu	37	X	144906317	144906317	+	Missense_Mutation	SNP	C	C	A	rs148553713		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:144906317C>A	ENST00000370490.1	+	1	6629	c.2374C>A	c.(2374-2376)Cgc>Agc	p.R792S	SLITRK2_ENST00000428560.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R792S|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	792					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R792G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATCTCGACGCCAAAACCA	0.453																																						ENST00000370490.1																			1	Substitution - Missense(1)	p.R792G(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2374-2376)Cgc>Agc		SLIT and NTRK-like family, member 2							128.0	121.0	123.0					X																	144906317		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906317C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2374C>A	X.37:g.144906317C>A	ENSP00000359521:p.Arg792Ser					SLITRK2_ENST00000447897.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R792S|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R792S	p.R792S			Q9H156	SLIK2_HUMAN			1	6629	+	Acute lymphoblastic leukemia(192;6.56e-05)		792					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2374C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512869	0.64522	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.54323	1.7	0.54753	D	0.999985	D	0.65815	0.995	D	0.64144	0.922	T	0.58081	-0.7699	10	0.33141	T	0.24	-6.8786	15.4932	0.75629	0.0:1.0:0.0:0.0	.	792	Q9H156	SLIK2_HUMAN	S	792	ENSP00000411681:R792S;ENSP00000359521:R792S;ENSP00000397015:R792S;ENSP00000407347:R792S;ENSP00000412010:R792S	ENSP00000359521:R792S	R	+	1	0	SLITRK2	144714009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.770000	0.55310	2.251000	0.74343	0.600000	0.82982	CGC		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		14	50	1	0	4.36969e-10	1	7.19668e-10	14	50				
GLYATL2	219970	broad.mit.edu	37	11	58602269	58602269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58602269G>C	ENST00000287275.1	-	6	908	c.518C>G	c.(517-519)gCa>gGa	p.A173G	GLYATL2_ENST00000532258.1_Missense_Mutation_p.A173G|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	173						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CACAAGACCTGCATGTGAAGC	0.388																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(517-519)gCa>gGa		glycine-N-acyltransferase-like 2	Glycine(DB00145)						48.0	47.0	47.0					11																	58602269		2029	4196	6225	SO:0001583	missense	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58602269G>C	AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.518C>G	11.37:g.58602269G>C	ENSP00000287275:p.Ala173Gly					GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.A173G	p.A173G	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			6	908	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	173					A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	c.518C>G	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443213	0.63067	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.21543	2.0;2.0	4.19	4.19	0.49359	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, N-terminal (1);	0.310366	0.24136	U	0.041203	T	0.44074	0.1276	M	0.82823	2.61	0.09310	N	1	D	0.61697	0.99	P	0.60068	0.868	T	0.35992	-0.9766	10	0.62326	D	0.03	.	12.1845	0.54229	0.0:0.0:1.0:0.0	.	173	Q8WU03	GLYL2_HUMAN	G	173	ENSP00000287275:A173G;ENSP00000434277:A173G	ENSP00000287275:A173G	A	-	2	0	GLYATL2	58358845	0.053000	0.20554	0.008000	0.14137	0.257000	0.26127	1.317000	0.33631	1.904000	0.55121	0.573000	0.79308	GCA		0.388	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		7	27	0	0	0	1	0	7	27				
FCHO1	23149	broad.mit.edu	37	19	17886905	17886905	+	Missense_Mutation	SNP	C	C	A	rs376919838		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:17886905C>A	ENST00000596536.1	+	16	1400	c.1117C>A	c.(1117-1119)Ccc>Acc	p.P373T	FCHO1_ENST00000600676.1_Missense_Mutation_p.P373T|FCHO1_ENST00000596951.1_Missense_Mutation_p.P373T|FCHO1_ENST00000595033.1_Missense_Mutation_p.P323T|FCHO1_ENST00000389133.4_Missense_Mutation_p.P373T|FCHO1_ENST00000597512.1_Missense_Mutation_p.P380T|FCHO1_ENST00000252771.7_Missense_Mutation_p.P373T|FCHO1_ENST00000594202.1_Missense_Mutation_p.P373T|FCHO1_ENST00000539407.1_Missense_Mutation_p.P373T	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	373	Mediates interaction with the adaptor protein complex AP-2.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGCCTGCAGCCCCGAGGCAGC	0.682																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(1117-1119)Ccc>Acc		FCH domain only 1							48.0	49.0	49.0					19																	17886905		2202	4298	6500	SO:0001583	missense	23149							g.chr19:17886905C>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1117C>A	19.37:g.17886905C>A	ENSP00000470731:p.Pro373Thr					FCHO1_ENST00000596536.1_Missense_Mutation_p.P373T|FCHO1_ENST00000597512.1_Missense_Mutation_p.P380T|FCHO1_ENST00000252771.7_Missense_Mutation_p.P373T|FCHO1_ENST00000595033.1_Missense_Mutation_p.P323T|FCHO1_ENST00000600676.1_Missense_Mutation_p.P373T|FCHO1_ENST00000389133.4_Missense_Mutation_p.P373T|FCHO1_ENST00000539407.1_Missense_Mutation_p.P373T|FCHO1_ENST00000596951.1_Missense_Mutation_p.P373T	p.P373T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			16	1396	+			373					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.1117C>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298261	0.01364	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.32515	1.45;1.45;1.45	4.58	-2.48	0.06423	.	0.533387	0.19934	N	0.102794	T	0.10852	0.0265	N	0.11927	0.2	0.19575	N	0.999967	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26087	-1.0113	10	0.12103	T	0.63	-5.6603	3.9528	0.09377	0.1606:0.3829:0.0:0.4565	.	373;373	O14526;O14526-2	FCHO1_HUMAN;.	T	373	ENSP00000252771:P373T;ENSP00000373785:P373T;ENSP00000437978:P373T	ENSP00000252771:P373T	P	+	1	0	FCHO1	17747905	0.001000	0.12720	0.266000	0.24541	0.618000	0.37518	-0.923000	0.04000	-0.314000	0.08716	-0.424000	0.05967	CCC		0.682	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		11	95	1	0	1.58986e-06	1	2.32287e-06	11	95				
IQGAP1	8826	broad.mit.edu	37	15	91035846	91035846	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:91035846G>T	ENST00000268182.5	+	35	4655	c.4531G>T	c.(4531-4533)Gct>Tct	p.A1511S	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A939S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1511	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACAGACATACGCTGCTCTGAA	0.428																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4531-4533)Gct>Tct		IQ motif containing GTPase activating protein 1							95.0	89.0	91.0					15																	91035846		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91035846G>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4531G>T	15.37:g.91035846G>T	ENSP00000268182:p.Ala1511Ser					IQGAP1_ENST00000560738.1_Missense_Mutation_p.A939S	p.A1511S	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		35	4655	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1511			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.4531G>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	1.036	-0.680333	0.03353	.	.	ENSG00000140575	ENST00000268182	T	0.42513	0.97	5.84	-2.1	0.07210	RasGAP protein, C-terminal (1);	0.718461	0.13836	N	0.359377	T	0.17831	0.0428	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.16722	0.016;0.004	T	0.23726	-1.0180	10	0.15499	T	0.54	-2.3982	4.6409	0.12548	0.2503:0.0:0.1534:0.5963	.	132;1511	B4DNP4;P46940	.;IQGA1_HUMAN	S	1511	ENSP00000268182:A1511S	ENSP00000268182:A1511S	A	+	1	0	IQGAP1	88836850	0.000000	0.05858	0.034000	0.17996	0.101000	0.19017	-0.114000	0.10757	-0.188000	0.10499	-0.516000	0.04426	GCT		0.428	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		3	26	1	0	1	1	1	3	26				
SEMG2	6407	broad.mit.edu	37	20	43851452	43851452	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43851452T>G	ENST00000372769.3	+	2	1269	c.1179T>G	c.(1177-1179)ccT>ccG	p.P393P		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	393	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TAAGAATTCCTAGTCAAGCTC	0.403																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1177-1179)ccT>ccG		semenogelin II							71.0	69.0	70.0					20																	43851452		2203	4300	6503	SO:0001819	synonymous_variant	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851452T>G		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1179T>G	20.37:g.43851452T>G							p.P393P	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	1269	+		Myeloproliferative disorder(115;0.0122)	393			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	c.1179T>G	CCDS13346.1																																																																																				0.403	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		19	86	0	0	0	1	0	19	86				
UTP20	27340	broad.mit.edu	37	12	101757447	101757447	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:101757447T>C	ENST00000261637.4	+	45	6058	c.5884T>C	c.(5884-5886)Tac>Cac	p.Y1962H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1962					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)			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						AAGCAAAAGTTACGACTCTTA	0.398																																						ENST00000261637.4																			0				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						c.(5884-5886)Tac>Cac		UTP20, small subunit (SSU) processome component, homolog (yeast)							122.0	108.0	113.0					12																	101757447		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.chr12:101757447T>C	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.5884T>C	12.37:g.101757447T>C	ENSP00000261637:p.Tyr1962His						p.Y1962H	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			45	6058	+			1962					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5884T>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275235	0.80580	.	.	ENSG00000120800	ENST00000261637	T	0.44482	0.92	5.92	5.92	0.95590	Armadillo-type fold (1);	0.248072	0.44285	D	0.000474	T	0.60843	0.2300	M	0.78456	2.415	0.44862	D	0.997879	D	0.60575	0.988	P	0.57679	0.825	T	0.60850	-0.7181	10	0.34782	T	0.22	-16.7135	16.3662	0.83325	0.0:0.0:0.0:1.0	.	1962	O75691	UTP20_HUMAN	H	1962	ENSP00000261637:Y1962H	ENSP00000261637:Y1962H	Y	+	1	0	UTP20	100281578	1.000000	0.71417	0.995000	0.50966	0.890000	0.51754	6.159000	0.71856	2.274000	0.75844	0.533000	0.62120	TAC		0.398	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		6	32	0	0	0	1	0	6	32				
GREM2	64388	broad.mit.edu	37	1	240656763	240656763	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:240656763G>T	ENST00000318160.4	-	2	279	c.13C>A	c.(13-15)Ctt>Att	p.L5I		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	5					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GACAGGGAAAGCTTCCAGAAC	0.542																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(13-15)Ctt>Att		gremlin 2, DAN family BMP antagonist							9.0	11.0	10.0					1																	240656763		2149	4233	6382	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656763G>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.13C>A	1.37:g.240656763G>T	ENSP00000318650:p.Leu5Ile						p.L5I	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	279	-		all_cancers(173;0.0196)	5					Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.13C>A	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289417	0.40494	.	.	ENSG00000180875	ENST00000318160	T	0.33438	1.41	5.29	4.37	0.52481	.	0.241345	0.35970	U	0.002869	T	0.21022	0.0506	L	0.34521	1.04	0.28065	N	0.932798	B	0.02656	0.0	B	0.04013	0.001	T	0.11941	-1.0567	10	0.32370	T	0.25	0.3374	7.6482	0.28334	0.0891:0.0:0.7463:0.1646	.	5	Q9H772	GREM2_HUMAN	I	5	ENSP00000318650:L5I	ENSP00000318650:L5I	L	-	1	0	GREM2	238723386	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.811000	0.55620	1.213000	0.43380	0.557000	0.71058	CTT		0.542	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		3	15	1	0	0.004672	1	0.00531382	3	15				
CRTC1	23373	broad.mit.edu	37	19	18856674	18856674	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:18856674C>T	ENST00000321949.8	+	3	311	c.285C>T	c.(283-285)acC>acT	p.T95T	CRTC1_ENST00000601916.1_Silent_p.T20T|CRTC1_ENST00000338797.6_Silent_p.T111T|CRTC1_ENST00000594658.1_Silent_p.T54T	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCCGGACCACCCGGCACCATG	0.632																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(331-333)acC>acT		CREB regulated transcription coactivator 1							50.0	62.0	58.0					19																	18856674		2202	4300	6502	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18856674C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.285C>T	19.37:g.18856674C>T						CRTC1_ENST00000601916.1_Silent_p.T20T|CRTC1_ENST00000321949.8_Silent_p.T95T|CRTC1_ENST00000594658.1_Silent_p.T54T	p.T111T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			4	358	+			95						Silent	SNP	ENST00000321949.8	37	c.333C>T	CCDS32963.1																																																																																				0.632	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		7	78	0	0	0	1	0	7	78				
APOBEC3D	140564	broad.mit.edu	37	22	39425401	39425401	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:39425401C>G	ENST00000216099.8	+	5	1046	c.639C>G	c.(637-639)ttC>ttG	p.F213L	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.F213L|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	213					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CACACATATTCTACTTCCACT	0.502																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(637-639)ttC>ttG		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							122.0	108.0	112.0					22																	39425401		1568	3582	5150	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39425401C>G	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.639C>G	22.37:g.39425401C>G	ENSP00000216099:p.Phe213Leu					APOBEC3D_ENST00000381568.4_Missense_Mutation_p.F213L|APOBEC3D_ENST00000427494.2_Intron	p.F213L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			5	1046	+	Melanoma(58;0.04)		213					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.639C>G	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.015933	0.35606	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	T;T	0.79141	-1.24;-1.24	1.87	0.826	0.18829	APOBEC-like, N-terminal (1);	.	.	.	.	D	0.87426	0.6174	M	0.91612	3.225	0.09310	N	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.74405	-0.3676	9	0.87932	D	0	.	4.2435	0.10660	0.0:0.7848:0.0:0.2152	.	213	Q96AK3	ABC3D_HUMAN	L	213	ENSP00000370980:F213L;ENSP00000216099:F213L	ENSP00000216099:F213L	F	+	3	2	APOBEC3D	37755347	0.067000	0.21026	0.013000	0.15412	0.014000	0.08584	1.719000	0.38011	0.346000	0.23899	0.430000	0.28490	TTC		0.502	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		11	45	0	0	0	1	0	11	45				
MYH13	8735	broad.mit.edu	37	17	10253892	10253892	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10253892C>G	ENST00000418404.3	-	11	1288	c.1125G>C	c.(1123-1125)gcG>gcC	p.A375A	MYH13_ENST00000252172.4_Silent_p.A375A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	375	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)	p.A375A(2)		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						CGTCTGGCTCCGCCTGCTCCT	0.542																																						ENST00000418404.3																			2	Substitution - coding silent(2)	p.A375A(2)	kidney(2)	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						c.(1123-1125)gcG>gcC		myosin, heavy chain 13, skeletal muscle							116.0	112.0	114.0					17																	10253892		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10253892C>G	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.1125G>C	17.37:g.10253892C>G						MYH13_ENST00000570743.1_Silent_p.A375A|MYH13_ENST00000252172.4_Silent_p.A375A	p.A375A			Q9UKX3	MYH13_HUMAN			11	1288	-			375			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1125G>C	CCDS45613.1																																																																																				0.542	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		6	48	0	0	0	1	0	6	48				
PON3	5446	broad.mit.edu	37	7	95025661	95025661	+	Start_Codon_SNP	SNP	A	A	T	rs368482537		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:95025661A>T	ENST00000265627.5	-	1	12	c.2T>A	c.(1-3)aTg>aAg	p.M1K	PON3_ENST00000475439.1_5'Flank|PON3_ENST00000451904.1_Start_Codon_SNP_p.M1K|PON1_ENST00000542556.1_Start_Codon_SNP_p.M1K|PON3_ENST00000427422.1_Start_Codon_SNP_p.M1K	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	1					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GAGCTTCCCCATGGTCTCGGG	0.706																																						ENST00000542556.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(1-3)aTg>aAg		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						75.0	69.0	71.0					7																	95025661		2203	4300	6503	SO:0001582	initiator_codon_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:95025661A>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.2T>A	7.37:g.95025661A>T	ENSP00000265627:p.Met1Lys					PON3_ENST00000427422.1_Start_Codon_SNP_p.M1K|PON3_ENST00000265627.5_Start_Codon_SNP_p.M1K	p.M1K			P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	12	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		1					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Translation_Start_Site	SNP	ENST00000265627.5	37	c.2T>A	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917003	0.52546	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.39787	1.06;1.07;1.23	4.45	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);	0.094025	0.85682	D	0.000000	T	0.60689	0.2288	.	.	.	0.51233	D	0.999913	D;D;D	0.57899	0.967;0.981;0.967	D;D;D	0.69142	0.916;0.962;0.916	T	0.64622	-0.6364	9	0.87932	D	0	-26.9108	10.4002	0.44225	1.0:0.0:0.0:0.0	.	1;1;1	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	K	1	ENSP00000444854:M1K;ENSP00000265627:M1K;ENSP00000413276:M1K	ENSP00000444854:M1K	M	-	2	0	PON1;PON3	94863597	1.000000	0.71417	0.996000	0.52242	0.587000	0.36485	4.201000	0.58439	2.234000	0.73211	0.459000	0.35465	ATG		0.706	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	Missense_Mutation	7	50	0	0	0	1	0	7	50				
DPYSL5	56896	broad.mit.edu	37	2	27157445	27157445	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:27157445G>T	ENST00000288699.6	+	8	948		c.e8-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCCAGGGAAGGTTGT	0.567																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.e8-1		dihydropyrimidinase-like 5							109.0	103.0	106.0					2																	27157445		2203	4300	6503	SO:0001630	splice_region_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27157445G>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.791-1G>T	2.37:g.27157445G>T						DPYSL5_ENST00000401478.1_Splice_Site		NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			8	948	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Q8TCL6|Q9NQC4|Q9NRY9	Splice_Site	SNP	ENST00000288699.6	37		CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829075	0.90955	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1015	0.89507	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPYSL5	27010949	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.719000	0.98760	2.582000	0.87167	0.591000	0.81541	.		0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134	Intron	22	99	1	0	4.35082e-09	1	6.99021e-09	22	99				
SYNE1	23345	broad.mit.edu	37	6	152603074	152603074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152603074C>A	ENST00000367255.5	-	97	18850	c.18249G>T	c.(18247-18249)caG>caT	p.Q6083H	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6083H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5695H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q607H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6012H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6012H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6083					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCAGGGCCTGTTCCTGCC	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18247-18249)caG>caT		spectrin repeat containing, nuclear envelope 1							104.0	88.0	93.0					6																	152603074		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152603074C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18249G>T	6.37:g.152603074C>A	ENSP00000356224:p.Gln6083His	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5695H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6083H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q607H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6012H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6012H	p.Q6083H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	97	18850	-		Ovarian(120;0.0955)	6083					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18249G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514197	0.44763	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.57907	0.46;0.45;0.37;0.46;0.6;0.92	5.23	2.19	0.27852	.	0.000000	0.56097	D	0.000032	T	0.37839	0.1018	L	0.56769	1.78	0.45747	D	0.998641	B;P;P;P	0.50272	0.344;0.89;0.89;0.933	B;B;B;P	0.47603	0.063;0.349;0.349;0.551	T	0.24941	-1.0146	10	0.54805	T	0.06	.	8.8729	0.35327	0.0:0.6117:0.0:0.3883	.	498;6083;6083;6012	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	6083;6012;6083;6012;5695;607	ENSP00000356224:Q6083H;ENSP00000396024:Q6012H;ENSP00000265368:Q6083H;ENSP00000390975:Q6012H;ENSP00000341887:Q5695H;ENSP00000349276:Q607H	ENSP00000265368:Q6083H	Q	-	3	2	SYNE1	152644767	0.709000	0.27886	0.998000	0.56505	0.976000	0.68499	-0.085000	0.11250	0.209000	0.20645	-0.218000	0.12543	CAG		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	23	1	0	1.12685e-05	1	1.55492e-05	9	23				
GPC2	221914	broad.mit.edu	37	7	99773204	99773204	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99773204G>T	ENST00000292377.2	-	3	806	c.639C>A	c.(637-639)ctC>ctA	p.L213L	STAG3_ENST00000394018.2_5'Flank|STAG3_ENST00000317296.5_5'Flank|GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000426455.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	213					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGCAGGCGGAGGCGGCGGG	0.612																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(637-639)ctC>ctA		glypican 2							18.0	18.0	18.0					7																	99773204		2203	4299	6502	SO:0001819	synonymous_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99773204G>T	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.639C>A	7.37:g.99773204G>T							p.L213L	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			3	806	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		213					A4D2A7	Silent	SNP	ENST00000292377.2	37	c.639C>A	CCDS5689.1																																																																																				0.612	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		3	12	1	0	0.004672	1	0.00531382	3	12				
FAM155A	728215	broad.mit.edu	37	13	108518289	108518289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:108518289G>T	ENST00000375915.2	-	1	794	c.656C>A	c.(655-657)tCg>tAg	p.S219*		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	219						integral component of membrane (GO:0016021)		p.S219L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTAAAAATCCGACAAGTTCCA	0.577																																						ENST00000375915.2																			1	Substitution - Missense(1)	p.S219L(1)	kidney(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(655-657)tCg>tAg		family with sequence similarity 155, member A							87.0	97.0	94.0					13																	108518289		2203	4300	6503	SO:0001587	stop_gained	728215					integral to membrane	binding	g.chr13:108518289G>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.656C>A	13.37:g.108518289G>T	ENSP00000365080:p.Ser219*						p.S219*	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	794	-			219					B2RUV1|B7Z334	Nonsense_Mutation	SNP	ENST00000375915.2	37	c.656C>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	38	6.949244	0.97956	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.9	4.98	0.66077	.	0.150760	0.41605	D	0.000853	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5266	0.56089	0.0:0.1179:0.7472:0.1349	.	.	.	.	X	219	.	ENSP00000365080:S219X	S	-	2	0	FAM155A	107316290	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	3.908000	0.56355	2.793000	0.96121	0.563000	0.77884	TCG		0.577	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		10	71	1	0	1.76689e-08	1	2.78999e-08	10	71				
OPCML	4978	broad.mit.edu	37	11	132306095	132306095	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:132306095G>A	ENST00000331898.7	-	6	1400	c.822C>T	c.(820-822)aaC>aaT	p.N274N	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.N267N|OPCML_ENST00000374778.4_Silent_p.N233N|OPCML_ENST00000541867.1_Silent_p.N274N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	274	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGCGGCCTTTGTTTTCAATCC	0.458																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(820-822)aaC>aaT		opioid binding protein/cell adhesion molecule-like							156.0	143.0	147.0					11																	132306095		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306095G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.822C>T	11.37:g.132306095G>A						OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.N274N|OPCML_ENST00000524381.1_Silent_p.N267N|OPCML_ENST00000374778.4_Silent_p.N233N	p.N274N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	6	1400	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	274			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.822C>T	CCDS8492.1																																																																																				0.458	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		5	45	0	0	0	1	0	5	45				
C6orf58	352999	broad.mit.edu	37	6	127899830	127899830	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:127899830G>T	ENST00000329722.7	+	2	313		c.e2-1		C6orf58_ENST00000498112.1_Splice_Site	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58							extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTCTCCTCCAGGCAGATTAGC	0.418																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.e2-1		chromosome 6 open reading frame 58							183.0	170.0	175.0					6																	127899830		2203	4299	6502	SO:0001630	splice_region_variant	352999					extracellular region		g.chr6:127899830G>T	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.302-1G>T	6.37:g.127899830G>T						C6orf58_ENST00000498112.1_Splice_Site		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	2	313	+								B4E1I0|Q5VUP2	Splice_Site	SNP	ENST00000329722.7	37		CCDS34533.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629168	0.28978	.	.	ENSG00000184530	ENST00000329722	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0656	0.71992	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf58	127941523	1.000000	0.71417	0.833000	0.33012	0.269000	0.26545	4.753000	0.62183	2.267000	0.75376	0.591000	0.81541	.		0.418	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905	Intron	11	75	1	0	9.70103e-10	1	1.58072e-09	11	75				
OR2T11	127077	broad.mit.edu	37	1	248789670	248789670	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:248789670A>T	ENST00000330803.2	-	1	821	c.760T>A	c.(760-762)Tac>Aac	p.Y254N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ACGTATGTGTAGAAGGCAGCC	0.522																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(760-762)Tac>Aac		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							71.0	66.0	67.0					1																	248789670		2049	4232	6281	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789670A>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.760T>A	1.37:g.248789670A>T	ENSP00000328934:p.Tyr254Asn						p.Y254N	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	821	-	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)		254					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.760T>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	14.20	2.465084	0.43839	.	.	ENSG00000183130	ENST00000330803	T	0.00115	8.71	4.24	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38058	N	0.001824	T	0.00496	0.0016	M	0.89353	3.025	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.25152	-1.0140	10	0.87932	D	0	.	9.3732	0.38268	0.652:0.348:0.0:0.0	.	254	Q8NH01	O2T11_HUMAN	N	254	ENSP00000328934:Y254N	ENSP00000328934:Y254N	Y	-	1	0	OR2T11	246856293	0.000000	0.05858	0.803000	0.32268	0.895000	0.52256	0.322000	0.19576	0.644000	0.30656	0.533000	0.62120	TAC		0.522	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		7	50	0	0	0	1	0	7	50				
PDHA2	5161	broad.mit.edu	37	4	96761821	96761821	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96761821G>A	ENST00000295266.4	+	1	583	c.520G>A	c.(520-522)Ggc>Agc	p.G174S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	174					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCTGGGCGCTGGCATTGCTCT	0.502																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(520-522)Ggc>Agc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						62.0	67.0	65.0					4																	96761821		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761821G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.520G>A	4.37:g.96761821G>A	ENSP00000295266:p.Gly174Ser						p.G174S	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	583	+		Hepatocellular(203;0.114)	174					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.520G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908550	0.72868	.	.	ENSG00000163114	ENST00000295266	D	0.99946	-8.6	4.77	4.77	0.60923	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99951	0.9979	H	0.99650	4.68	0.80722	D	1	P	0.40250	0.709	P	0.46452	0.517	D	0.94161	0.7414	10	0.87932	D	0	-17.7404	15.6906	0.77450	0.0:0.0:1.0:0.0	.	174	P29803	ODPAT_HUMAN	S	174	ENSP00000295266:G174S	ENSP00000295266:G174S	G	+	1	0	PDHA2	96980844	1.000000	0.71417	0.262000	0.24481	0.351000	0.29236	8.610000	0.90902	2.646000	0.89796	0.467000	0.42956	GGC		0.502	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			12	58	0	0	0	1	0	12	58				
PON3	5446	broad.mit.edu	37	7	95025660	95025660	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:95025660C>A	ENST00000265627.5	-	1	13	c.3G>T	c.(1-3)atG>atT	p.M1I	PON3_ENST00000475439.1_5'Flank|PON3_ENST00000451904.1_Start_Codon_SNP_p.M1I|PON1_ENST00000542556.1_Start_Codon_SNP_p.M1I|PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	1					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CGAGCTTCCCCATGGTCTCGG	0.706																																						ENST00000542556.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(1-3)atG>atT		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						77.0	70.0	73.0					7																	95025660		2203	4300	6503	SO:0001582	initiator_codon_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:95025660C>A	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.3G>T	7.37:g.95025660C>A	ENSP00000265627:p.Met1Ile					PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I|PON3_ENST00000265627.5_Start_Codon_SNP_p.M1I	p.M1I			P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	13	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		1					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Translation_Start_Site	SNP	ENST00000265627.5	37	c.3G>T	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113711	0.56398	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.38240	1.15;1.17;1.32	4.45	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);	0.094025	0.85682	D	0.000000	T	0.57344	0.2047	.	.	.	0.52099	D	0.99994	P;P;P	0.52577	0.924;0.954;0.924	P;D;P	0.66351	0.878;0.943;0.878	T	0.60151	-0.7319	9	0.87932	D	0	-26.9108	12.8966	0.58104	0.0:1.0:0.0:0.0	.	1;1;1	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	I	1	ENSP00000444854:M1I;ENSP00000265627:M1I;ENSP00000413276:M1I	ENSP00000444854:M1I	M	-	3	0	PON1;PON3	94863596	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	3.514000	0.53422	2.768000	0.95171	0.561000	0.74099	ATG		0.706	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	Missense_Mutation	7	50	1	0	0.0293803	1	0.0312145	7	50				
CHD4	1108	broad.mit.edu	37	12	6692238	6692238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:6692238C>T	ENST00000357008.2	-	27	4265	c.4102G>A	c.(4102-4104)Gtg>Atg	p.V1368M	CHD4_ENST00000309577.6_Missense_Mutation_p.V1396M|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1361M|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.V1393M	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1368					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCTGAAGCCACTGAGTAATCG	0.502																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4186-4188)Gtg>Atg		chromodomain helicase DNA binding protein 4							97.0	96.0	97.0					12																	6692238		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692238C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4102G>A	12.37:g.6692238C>T	ENSP00000349508:p.Val1368Met					CHD4_ENST00000544484.1_Missense_Mutation_p.V1393M|CHD4_ENST00000357008.2_Missense_Mutation_p.V1368M|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.V1361M|RP5-940J5.6_ENST00000501075.2_RNA	p.V1396M			Q14839	CHD4_HUMAN			26	4349	-			1368					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4186G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521750	0.85600	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90955	-2.76;-2.72;-2.75;-2.72	5.83	5.83	0.93111	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.94611	0.8263	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.93708	0.7021	10	0.48119	T	0.1	-10.2148	20.1374	0.98035	0.0:1.0:0.0:0.0	.	1396;1368;1361	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	M	1393;1361;1396;1368;1342	ENSP00000440392:V1393M;ENSP00000440542:V1361M;ENSP00000312419:V1396M;ENSP00000349508:V1368M	ENSP00000312419:V1396M	V	-	1	0	CHD4	6562499	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.757000	0.68766	2.763000	0.94921	0.563000	0.77884	GTG		0.502	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		11	98	0	0	0	1	0	11	98				
PCDH10	57575	broad.mit.edu	37	4	134072289	134072289	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:134072289G>T	ENST00000264360.5	+	1	1820	c.994G>T	c.(994-996)Gac>Tac	p.D332Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	332	Cadherin 3. {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(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAAGCCAAGGACCTGGGCCC	0.592																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(994-996)Gac>Tac		protocadherin 10							103.0	94.0	97.0					4																	134072289		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072289G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.994G>T	4.37:g.134072289G>T	ENSP00000264360:p.Asp332Tyr						p.D332Y	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1820	+			332			Cadherin 3.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.994G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580104	0.65992	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.68903	-0.36	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000211	D	0.89863	0.6838	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94556	0.7758	10	0.87932	D	0	.	16.6535	0.85223	0.0:0.0:1.0:0.0	.	332;332	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Y	332	ENSP00000264360:D332Y	ENSP00000264360:D332Y	D	+	1	0	PCDH10	134291739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.640000	0.98453	2.230000	0.72887	0.407000	0.27541	GAC		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	73	1	0	0.00198382	1	0.00230193	7	73				
COL6A6	131873	broad.mit.edu	37	3	130284003	130284003	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:130284003A>T	ENST00000358511.6	+	3	858	c.827A>T	c.(826-828)gAg>gTg	p.E276V	COL6A6_ENST00000453409.2_Missense_Mutation_p.E276V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	276	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATAGCAATGAGACAAAAGTG	0.423																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(826-828)gAg>gTg		collagen, type VI, alpha 6							123.0	120.0	121.0					3																	130284003		1863	4114	5977	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284003A>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.827A>T	3.37:g.130284003A>T	ENSP00000351310:p.Glu276Val					COL6A6_ENST00000453409.2_Missense_Mutation_p.E276V	p.E276V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	858	+			276			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.827A>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361211	0.61403	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84442	-1.85;-1.85	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000016	D	0.89104	0.6620	L	0.43757	1.38	0.32897	D	0.512693	D	0.76494	0.999	D	0.77557	0.99	D	0.91643	0.5328	10	0.56958	D	0.05	.	14.8295	0.70137	1.0:0.0:0.0:0.0	.	276	A6NMZ7	CO6A6_HUMAN	V	276	ENSP00000351310:E276V;ENSP00000399236:E276V	ENSP00000351310:E276V	E	+	2	0	COL6A6	131766693	0.997000	0.39634	0.994000	0.49952	0.887000	0.51463	2.242000	0.43106	2.053000	0.61076	0.459000	0.35465	GAG		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		19	86	0	0	0	1	0	19	86				
SLIT1	6585	broad.mit.edu	37	10	98923185	98923185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:98923185C>A	ENST00000266058.4	-	3	538	c.293G>T	c.(292-294)gGa>gTa	p.G98V	SLIT1_ENST00000371041.3_Missense_Mutation_p.G98V|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G98V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	98					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTCCACTGCTCCAATCTGGTT	0.617																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(292-294)gGa>gTa		slit homolog 1 (Drosophila)							251.0	240.0	244.0					10																	98923185		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98923185C>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.293G>T	10.37:g.98923185C>A	ENSP00000266058:p.Gly98Val					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G98V|SLIT1_ENST00000371041.3_Missense_Mutation_p.G98V|SLIT1_ENST00000456008.2_5'UTR	p.G98V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	3	538	-		Colorectal(252;0.162)	98					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.293G>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	6.278	0.419422	0.11928	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.24	3.32	0.38043	.	0.502847	0.22337	N	0.061385	T	0.25791	0.0628	N	0.02960	-0.455	0.49687	D	0.99981	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.15484	0.013;0.005;0.004	T	0.03922	-1.0992	10	0.16896	T	0.51	.	11.074	0.48021	0.1453:0.7147:0.1399:0.0	.	98;98;98	E7EWQ8;O75093-2;O75093	.;.;SLIT1_HUMAN	V	98;98;98;98;81;98;98	ENSP00000266058:G98V;ENSP00000360109:G98V;ENSP00000315005:G81V;ENSP00000360080:G98V	ENSP00000266058:G98V	G	-	2	0	SLIT1	98913175	0.000000	0.05858	0.917000	0.36280	0.953000	0.61014	0.525000	0.22956	0.725000	0.32318	0.561000	0.74099	GGA		0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		21	171	1	0	8.10497e-08	1	1.26032e-07	21	171				
CLK3	1198	broad.mit.edu	37	15	74918245	74918245	+	Silent	SNP	C	C	T	rs144212195	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:74918245C>T	ENST00000395066.3	+	7	1658	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	CLK3_ENST00000352989.5_Silent_p.N228N|CLK3_ENST00000345005.4_Silent_p.N251N|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGAGAATAACTTCCAGCCTT	0.527													C|||	3	0.000599042	0.0	0.0029	5008	,	,		22038	0.0		0.001	False		,,,				2504	0.0				Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(1195-1197)aaC>aaT		CDC-like kinase 3		C	,	2,4392		1,0,2196	182.0	144.0	157.0		1197,753	2.7	1.0	15	dbSNP_134	157	13,8579	9.8+/-36.6	0,13,4283	yes	coding-synonymous,coding-synonymous	CLK3	NM_001130028.1,NM_003992.4	,	1,13,6479	TT,TC,CC		0.1513,0.0455,0.1155	,	399/639,251/491	74918245	15,12971	2197	4296	6493	SO:0001819	synonymous_variant	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74918245C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1197C>T	15.37:g.74918245C>T						CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Silent_p.N228N|CLK3_ENST00000345005.4_Silent_p.N251N	p.N399N	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			7	1658	+			399			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	ENST00000395066.3	37	c.1197C>T	CCDS45304.1																																																																																				0.527	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			4	53	0	0	0	1	0	4	53				
SPAG17	200162	broad.mit.edu	37	1	118629544	118629544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:118629544G>T	ENST00000336338.5	-	11	1512	c.1447C>A	c.(1447-1449)Cac>Aac	p.H483N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	483						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACACAATGTGAGCTGCGATT	0.502																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1447-1449)Cac>Aac		sperm associated antigen 17							142.0	134.0	137.0					1																	118629544		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118629544G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1447C>A	1.37:g.118629544G>T	ENSP00000337804:p.His483Asn						p.H483N	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	11	1512	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	483					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1447C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398410	0.83120	.	.	ENSG00000155761	ENST00000336338	T	0.20598	2.06	5.32	5.32	0.75619	.	0.207173	0.51477	D	0.000100	T	0.33118	0.0852	M	0.75447	2.3	0.30619	N	0.758694	D	0.61697	0.99	P	0.58266	0.836	T	0.10428	-1.0630	10	0.72032	D	0.01	.	17.1168	0.86691	0.0:0.0:1.0:0.0	.	483	Q6Q759	SPG17_HUMAN	N	483	ENSP00000337804:H483N	ENSP00000337804:H483N	H	-	1	0	SPAG17	118431067	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	4.686000	0.61700	2.655000	0.90218	0.655000	0.94253	CAC		0.502	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	66	1	0	7.48243e-07	1	1.10552e-06	10	66				
F13B	2165	broad.mit.edu	37	1	197029517	197029517	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197029517G>C	ENST00000367412.1	-	5	827	c.784C>G	c.(784-786)Cca>Gca	p.P262A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	262	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGAGATTCTGGGTACCAACCA	0.333																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(784-786)Cca>Gca		coagulation factor XIII, B polypeptide							75.0	83.0	80.0					1																	197029517		2203	4295	6498	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197029517G>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.784C>G	1.37:g.197029517G>C	ENSP00000356382:p.Pro262Ala						p.P262A	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			5	827	-			262			Sushi 4.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.784C>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217052	0.79352	.	.	ENSG00000143278	ENST00000367412	T	0.74106	-0.81	5.57	5.57	0.84162	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.32819	N	0.005618	T	0.81489	0.4833	L	0.41824	1.3	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.75637	-0.3249	10	0.20519	T	0.43	.	19.926	0.97102	0.0:0.0:1.0:0.0	.	262	P05160	F13B_HUMAN	A	262	ENSP00000356382:P262A	ENSP00000356382:P262A	P	-	1	0	F13B	195296140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.415000	0.73328	2.778000	0.95560	0.650000	0.86243	CCA		0.333	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		6	57	0	0	0	1	0	6	57				
OR4D6	219983	broad.mit.edu	37	11	59224907	59224907	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:59224907C>T	ENST00000300127.2	+	1	497	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATTCAATCATCCAGGTAATTC	0.522																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(472-474)atC>atT		olfactory receptor, family 4, subfamily D, member 6							273.0	240.0	251.0					11																	59224907		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224907C>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.474C>T	11.37:g.59224907C>T							p.I158I	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	497	+			158					B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.474C>T	CCDS31562.1																																																																																				0.522	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		8	122	0	0	0	1	0	8	122				
PRAMEF10	343071	broad.mit.edu	37	1	12954995	12954995	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:12954995C>G	ENST00000235347.4	-	3	367	c.288G>C	c.(286-288)agG>agC	p.R96S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	96					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTCCACCTCCTGTGAGTAA	0.532																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.e3-1		PRAME family member 10							26.0	28.0	27.0					1																	12954995		1800	3738	5538	SO:0001630	splice_region_variant	343071							g.chr1:12954995C>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.288-1G>C	1.37:g.12954995C>G							p.R96_splice	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	367	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	96					Q2M1V2	Splice_Site	SNP	ENST00000235347.4	37	c.287_splice	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	7.743	0.701610	0.15172	.	.	ENSG00000187545	ENST00000235347	T	0.17528	2.27	1.99	-1.78	0.07957	.	0.483471	0.20425	N	0.092596	T	0.18800	0.0451	L	0.61218	1.895	0.09310	N	1	P	0.41232	0.743	P	0.49999	0.628	T	0.12218	-1.0556	10	0.33940	T	0.23	.	0.4921	0.00566	0.2485:0.3186:0.2463:0.1866	.	96	O60809	PRA10_HUMAN	S	96	ENSP00000235347:R96S	ENSP00000235347:R96S	R	-	3	2	PRAMEF10	12877582	0.012000	0.17670	0.005000	0.12908	0.019000	0.09904	0.327000	0.19663	-0.438000	0.07232	-0.755000	0.03482	AGG		0.532	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342	Missense_Mutation	13	111	0	0	0	1	0	13	111				
EIF3E	3646	broad.mit.edu	37	8	109215287	109215287	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:109215287G>T	ENST00000220849.5	-	12	1286	c.1224C>A	c.(1222-1224)acC>acA	p.T408T	EIF3E_ENST00000519030.1_Silent_p.T315T|EIF3E_ENST00000519517.1_5'Flank	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAAGGCTTTTGGTCTTTTCAA	0.388																																					GBM(15;360 410 8460 34179 52246)	ENST00000220849.5																		EIF3E/RSPO2(6)	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1222-1224)acC>acA		eukaryotic translation initiation factor 3, subunit E							153.0	138.0	144.0					8																	109215287		2203	4297	6500	SO:0001819	synonymous_variant	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109215287G>T	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.1224C>A	8.37:g.109215287G>T						EIF3E_ENST00000519030.1_Silent_p.T315T	p.T408T	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		12	1286	-			408			Sufficient for interaction with MCM7.			Silent	SNP	ENST00000220849.5	37	c.1224C>A	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	G	9.442	1.088306	0.20390	.	.	ENSG00000104408	ENST00000522352	.	.	.	5.7	0.541	0.17168	.	.	.	.	.	T	0.50735	0.1633	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38735	-0.9647	4	.	.	.	-11.3543	5.0064	0.14289	0.263:0.0:0.512:0.225	.	.	.	.	K	119	.	.	Q	-	1	0	EIF3E	109284463	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.474000	0.22148	0.340000	0.23745	0.585000	0.79938	CAA		0.388	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		7	61	1	0	8.12818e-05	1	0.000104036	7	61				
ZNF493	284443	broad.mit.edu	37	19	21605835	21605835	+	5'UTR	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:21605835G>T	ENST00000355504.4	+	0	256				CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.G125V|ZNF493_ENST00000596302.1_3'UTR	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTAAGAAAAGGATGTAAAAGT	0.328																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(373-375)gGa>gTa		zinc finger protein 493							100.0	105.0	103.0					19																	21605835		2202	4292	6494	SO:0001623	5_prime_UTR_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21605835G>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-11G>T	19.37:g.21605835G>T						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_5'UTR|ZNF493_ENST00000596302.1_3'UTR	p.G125V	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	483	+			80					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.374G>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	3.353	-0.132030	0.06753	.	.	ENSG00000196268	ENST00000392288	T	0.06218	3.33	1.05	-1.69	0.08186	.	.	.	.	.	T	0.20210	0.0486	M	0.87456	2.885	0.09310	N	1	D	0.67145	0.996	D	0.65443	0.935	T	0.06935	-1.0799	9	0.31617	T	0.26	.	6.4444	0.21867	0.0:0.3081:0.6919:0.0	.	125	Q6ZR52-2	.	V	125	ENSP00000376110:G125V	ENSP00000376110:G125V	G	+	2	0	ZNF493	21397675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.424000	0.00475	-0.521000	0.06426	-0.515000	0.04445	GGA		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		13	88	1	0	5.50884e-06	1	7.75287e-06	13	88				
SLC18A3	6572	broad.mit.edu	37	10	50819260	50819260	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50819260C>A	ENST00000374115.3	+	1	914	c.474C>A	c.(472-474)ggC>ggA	p.G158G	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	158					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCTGATCGGCCTGGGCGTCA	0.647																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(472-474)ggC>ggA		solute carrier family 18 (vesicular acetylcholine transporter), member 3							86.0	80.0	82.0					10																	50819260		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819260C>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.474C>A	10.37:g.50819260C>A						CHAT_ENST00000339797.1_Intron	p.G158G	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	914	+			158					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.474C>A	CCDS7231.1																																																																																				0.647	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		9	49	1	0	3.09899e-07	1	4.6688e-07	9	49				
NIPA2	81614	broad.mit.edu	37	15	23006585	23006585	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:23006585A>T	ENST00000337451.3	-	8	1331	c.719T>A	c.(718-720)cTg>cAg	p.L240Q	NIPA2_ENST00000398013.3_Missense_Mutation_p.L240Q|NIPA2_ENST00000359727.4_Missense_Mutation_p.L221Q|NIPA2_ENST00000398014.2_Missense_Mutation_p.L240Q|NIPA2_ENST00000539711.2_Missense_Mutation_p.L221Q	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	240						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAATATATCCAGGGCCCTATT	0.423																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(718-720)cTg>cAg		non imprinted in Prader-Willi/Angelman syndrome 2							114.0	132.0	126.0					15																	23006585		2202	4300	6502	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006585A>T	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.719T>A	15.37:g.23006585A>T	ENSP00000337618:p.Leu240Gln					NIPA2_ENST00000539711.2_Missense_Mutation_p.L221Q|NIPA2_ENST00000359727.4_Missense_Mutation_p.L221Q|NIPA2_ENST00000398013.3_Missense_Mutation_p.L240Q|NIPA2_ENST00000398014.2_Missense_Mutation_p.L240Q	p.L240Q	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1331	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	240					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.719T>A	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.484847	0.63962	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D;D	0.92858	-3.04;-3.04;-3.04;-3.12	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98512	1.0619	10	0.87932	D	0	-5.9436	15.7833	0.78281	1.0:0.0:0.0:0.0	.	221;240	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	Q	240;240;221;240;221	ENSP00000337618:L240Q;ENSP00000381096:L240Q;ENSP00000352762:L221Q;ENSP00000381095:L221Q	ENSP00000337618:L240Q	L	-	2	0	NIPA2	20558026	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	9.210000	0.95106	2.187000	0.69744	0.533000	0.62120	CTG		0.423	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		11	119	0	0	0	1	0	11	119				
VIM	7431	broad.mit.edu	37	10	17277251	17277251	+	Silent	SNP	C	C	A	rs116696668		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:17277251C>A	ENST00000224237.5	+	6	1237	c.1092C>A	c.(1090-1092)cgC>cgA	p.R364R	VIM_ENST00000544301.1_Silent_p.R364R|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	364	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATTGGCCGCCTGCAGGATG	0.483																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1090-1092)cgC>cgA		vimentin							141.0	125.0	131.0					10																	17277251		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277251C>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1092C>A	10.37:g.17277251C>A						VIM_ENST00000224237.5_Silent_p.R364R	p.R364R	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1505	+			364			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.1092C>A	CCDS7120.1																																																																																				0.483	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		10	61	1	0	1.76689e-08	1	2.78999e-08	10	61				
ZNF583	147949	broad.mit.edu	37	19	56935074	56935074	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56935074G>C	ENST00000333201.9	+	5	1257	c.1047G>C	c.(1045-1047)gaG>gaC	p.E349D	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.E349D	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	349					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATACAGGAGAGAAACCTTATG	0.408																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1045-1047)gaG>gaC		zinc finger protein 583							118.0	125.0	123.0					19																	56935074		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935074G>C	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1047G>C	19.37:g.56935074G>C	ENSP00000388502:p.Glu349Asp					ZNF583_ENST00000291598.7_Missense_Mutation_p.E349D|ZNF583_ENST00000585612.1_3'UTR	p.E349D	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1257	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	349					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1047G>C	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638604	0.67130	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.26810	1.71;1.71	4.33	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000383	T	0.39064	0.1064	L	0.44542	1.39	0.41736	D	0.989583	D	0.62365	0.991	D	0.77004	0.989	T	0.09530	-1.0670	9	.	.	.	.	11.31	0.49358	0.0923:0.0:0.9077:0.0	.	349	Q96ND8	ZN583_HUMAN	D	349	ENSP00000291598:E349D;ENSP00000388502:E349D	.	E	+	3	2	ZNF583	61626886	1.000000	0.71417	0.938000	0.37757	0.989000	0.77384	0.716000	0.25836	1.181000	0.42912	0.462000	0.41574	GAG		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		13	67	0	0	0	1	0	13	67				
IGKV1D-12	28903	broad.mit.edu	37	2	90198979	90198979	+	RNA	SNP	C	C	T	rs535020629	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:90198979C>T	ENST00000390276.2	+	0	321									immunoglobulin kappa variable 1D-12																		ACTTGTCGGGCGAGTCAGGGT	0.512													-|||	3	0.000599042	0.0008	0.0	5008	,	,		13775	0.0		0.0	False		,,,				2504	0.002					ENST00000390276.2																			0																				55.0	73.0	68.0					2																	90198979		1395	4001	5396			28903							g.chr2:90198979C>T	X17263		2p11.2	2014-05-06			ENSG00000240834	ENSG00000278857		"""Immunoglobulins / IGK locus"""	5746	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188272		2.37:g.90198979C>T														0	321	+									RNA	SNP	ENST00000390276.2	37																																																																																						0.512	IGKV1D-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323139.2	NG_000833		8	44	0	0	0	1	0	8	44				
BACH2	60468	broad.mit.edu	37	6	90660226	90660226	+	Missense_Mutation	SNP	G	G	T	rs574405475		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:90660226G>T	ENST00000257749.4	-	7	2306	c.1599C>A	c.(1597-1599)agC>agA	p.S533R	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S533R|BACH2_ENST00000537989.1_Missense_Mutation_p.S533R|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	533						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTGAGCCCCCGCTCCCGTCCT	0.622																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1597-1599)agC>agA		BTB and CNC homology 1, basic leucine zipper transcription factor 2							61.0	62.0	62.0					6																	90660226		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660226G>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1599C>A	6.37:g.90660226G>T	ENSP00000257749:p.Ser533Arg					RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S533R|BACH2_ENST00000537989.1_Missense_Mutation_p.S533R	p.S533R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2306	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	533					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1599C>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452620	0.43531	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.55930	0.49;0.49;0.49	5.2	-6.05	0.02172	.	0.091970	0.85682	D	0.000000	T	0.43567	0.1253	L	0.32530	0.975	0.28378	N	0.919664	D	0.89917	1.0	D	0.87578	0.998	T	0.60611	-0.7229	10	0.48119	T	0.1	-0.1924	17.9337	0.89006	0.7361:0.0:0.2639:0.0	.	533	Q9BYV9	BACH2_HUMAN	R	533	ENSP00000257749:S533R;ENSP00000437473:S533R;ENSP00000345642:S533R	ENSP00000257749:S533R	S	-	3	2	BACH2	90716947	0.237000	0.23815	0.618000	0.29105	0.934000	0.57294	-0.344000	0.07780	-1.356000	0.02183	0.460000	0.39030	AGC		0.622	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		5	54	1	0	1.23904e-05	1	1.68943e-05	5	54				
HTR3A	3359	broad.mit.edu	37	11	113856810	113856810	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:113856810G>A	ENST00000504030.2	+	6	1063	c.618G>A	c.(616-618)caG>caA	p.Q206Q	HTR3A_ENST00000506841.2_Silent_p.Q206Q|HTR3A_ENST00000299961.5_Silent_p.Q191Q|HTR3A_ENST00000375498.2_Silent_p.Q212Q|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Silent_p.Q212Q			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	206					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCATGAACCAGGGAGAGTGGG	0.493																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(616-618)caG>caA		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						186.0	194.0	191.0					11																	113856810		2201	4296	6497	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856810G>A	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.618G>A	11.37:g.113856810G>A						HTR3A_ENST00000506841.2_Silent_p.Q206Q|HTR3A_ENST00000375498.2_Silent_p.Q212Q|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Silent_p.Q191Q|HTR3A_ENST00000355556.2_Silent_p.Q212Q	p.Q206Q			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1063	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	206					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.618G>A																																																																																					0.493	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		40	123	0	0	0	1	0	40	123				
GFRAL	389400	broad.mit.edu	37	6	55216298	55216298	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:55216298C>A	ENST00000340465.2	+	5	704	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	206					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCTCTTCACAGCAAGACAT	0.423																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(616-618)caC>caA		GDNF family receptor alpha like							121.0	119.0	119.0					6																	55216298		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216298C>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.618C>A	6.37:g.55216298C>A	ENSP00000343636:p.His206Gln						p.H206Q	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	704	+	Lung NSC(77;0.0875)|Renal(3;0.122)		206					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.618C>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651939	0.67472	.	.	ENSG00000187871	ENST00000340465	T	0.63913	-0.07	6.05	5.01	0.66863	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	L	0.34521	1.04	0.40495	D	0.980587	D	0.89917	1.0	D	0.91635	0.999	T	0.63024	-0.6729	10	0.59425	D	0.04	-17.37	7.0347	0.24987	0.0:0.7684:0.0:0.2316	.	206	Q6UXV0	GFRAL_HUMAN	Q	206	ENSP00000343636:H206Q	ENSP00000343636:H206Q	H	+	3	2	GFRAL	55324257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.098000	0.41757	2.866000	0.98385	0.650000	0.86243	CAC		0.423	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		13	72	1	0	0.00010058	1	0.000128558	13	72				
MKI67	4288	broad.mit.edu	37	10	129914193	129914193	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:129914193T>C	ENST00000368654.3	-	7	854	c.479A>G	c.(478-480)aAg>aGg	p.K160R	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	160					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)				TTTGACATTCTTGATATGTAC	0.393																																						ENST00000368654.3																			0				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						c.(478-480)aAg>aGg		marker of proliferation Ki-67							185.0	177.0	180.0					10																	129914193		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129914193T>C	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.479A>G	10.37:g.129914193T>C	ENSP00000357643:p.Lys160Arg					MKI67_ENST00000368653.3_Intron	p.K160R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	854	-		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)	160					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.479A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153476	0.38021	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.23147	1.92	3.58	1.22	0.21188	.	0.742683	0.11955	N	0.513323	T	0.18383	0.0441	L	0.29908	0.895	0.09310	N	1	P	0.47841	0.901	P	0.44696	0.458	T	0.11012	-1.0605	9	.	.	.	.	4.8944	0.13742	0.0:0.2778:0.0:0.7222	.	160	P46013	KI67_HUMAN	R	160	ENSP00000357643:K160R	.	K	-	2	0	MKI67	129804183	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.016000	0.13377	0.253000	0.21552	0.533000	0.62120	AAG		0.393	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	62	0	0	0	1	0	8	62				
APCS	325	broad.mit.edu	37	1	159558474	159558474	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:159558474C>G	ENST00000255040.2	+	2	745	c.648C>G	c.(646-648)atC>atG	p.I216M		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	216	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GATATGTCATCATCAAACCCT	0.468																																						ENST00000255040.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(646-648)atC>atG		amyloid P component, serum							88.0	91.0	90.0					1																	159558474		2203	4300	6503	SO:0001583	missense	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159558474C>G		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.648C>G	1.37:g.159558474C>G	ENSP00000255040:p.Ile216Met						p.I216M	NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN			2	745	+	all_hematologic(112;0.0429)		216			Pentaxin.			Missense_Mutation	SNP	ENST00000255040.2	37	c.648C>G	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394893	0.42512	.	.	ENSG00000132703	ENST00000255040	T	0.07021	3.23	4.1	2.21	0.28008	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.913135	0.09473	N	0.797428	T	0.05044	0.0135	L	0.41710	1.295	0.09310	N	0.999999	P	0.45827	0.867	P	0.51918	0.684	T	0.38134	-0.9675	10	0.54805	T	0.06	-4.6719	6.006	0.19547	0.0:0.6756:0.0:0.3244	.	216	P02743	SAMP_HUMAN	M	216	ENSP00000255040:I216M	ENSP00000255040:I216M	I	+	3	3	APCS	157825098	0.000000	0.05858	0.017000	0.16124	0.029000	0.11900	-0.308000	0.08156	0.477000	0.27464	0.650000	0.86243	ATC		0.468	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		5	25	0	0	0	1	0	5	25				
BAIAP2	10458	broad.mit.edu	37	17	79073836	79073836	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:79073836A>C	ENST00000321300.6	+	7	691	c.598A>C	c.(598-600)Aag>Cag	p.K200Q	BAIAP2_ENST00000416299.2_Missense_Mutation_p.K63Q|BAIAP2_ENST00000428708.2_Missense_Mutation_p.K200Q|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K200Q|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K200Q|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K233Q|BAIAP2_ENST00000392411.3_Missense_Mutation_p.K122Q|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K200Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	200	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTGGTGGAGAAGCAGTGCGC	0.647																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(598-600)Aag>Cag		BAI1-associated protein 2							55.0	53.0	53.0					17																	79073836		2203	4300	6503	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79073836A>C	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.598A>C	17.37:g.79073836A>C	ENSP00000316338:p.Lys200Gln					BAIAP2_ENST00000428708.2_Missense_Mutation_p.K200Q|BAIAP2_ENST00000575245.1_Missense_Mutation_p.K233Q|BAIAP2_ENST00000435091.3_Missense_Mutation_p.K200Q|BAIAP2_ENST00000321280.7_Missense_Mutation_p.K200Q|BAIAP2_ENST00000575712.1_Missense_Mutation_p.K200Q|BAIAP2_ENST00000392411.3_Missense_Mutation_p.K122Q|BAIAP2_ENST00000416299.2_Missense_Mutation_p.K63Q	p.K200Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		7	691	+	all_neural(118;0.101)		200			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.598A>C	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.819482	0.90873	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.40225	1.76;1.78;1.34;1.34;1.54;1.04	5.27	5.27	0.74061	IRSp53/MIM homology domain (IMD) (3);	0.049698	0.85682	D	0.000000	T	0.59321	0.2185	M	0.67700	2.07	0.50467	D	0.999877	D;D;D;D;D;D;D;P;P	0.71674	0.986;0.989;0.998;0.985;0.96;0.97;0.981;0.947;0.894	P;P;D;P;P;P;P;P;P	0.63488	0.886;0.769;0.915;0.852;0.474;0.582;0.582;0.582;0.502	T	0.57412	-0.7816	10	0.30078	T	0.28	-19.8538	15.196	0.73088	1.0:0.0:0.0:0.0	.	63;122;201;200;200;200;200;200;200	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	Q	200;200;200;200;122;63	ENSP00000316338:K200Q;ENSP00000401022:K200Q;ENSP00000413069:K200Q;ENSP00000315685:K200Q;ENSP00000376211:K122Q;ENSP00000391837:K63Q	ENSP00000315685:K200Q	K	+	1	0	BAIAP2	76688431	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.126000	0.64721	1.991000	0.58162	0.402000	0.26972	AAG		0.647	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			5	23	0	0	0	1	0	5	23				
ZMAT4	79698	broad.mit.edu	37	8	40532359	40532359	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:40532359A>G	ENST00000297737.6	-	5	587	c.441T>C	c.(439-441)tgT>tgC	p.C147C	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	147						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CACAGAGCCCACAGTATCTGT	0.498																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(439-441)tgT>tgC		zinc finger, matrin-type 4							197.0	195.0	196.0					8																	40532359		2203	4300	6503	SO:0001819	synonymous_variant	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532359A>G	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.441T>C	8.37:g.40532359A>G						ZMAT4_ENST00000315769.7_Intron	p.C147C	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	587	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	147					Q8WUT8	Silent	SNP	ENST00000297737.6	37	c.441T>C	CCDS34885.1																																																																																				0.498	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		31	174	0	0	0	1	0	31	174				
PRR23A	729627	broad.mit.edu	37	3	138724773	138724773	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:138724773C>T	ENST00000383163.2	-	1	337	c.338G>A	c.(337-339)gGa>gAa	p.G113E	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	113										endometrium(3)|kidney(1)|lung(7)	11						GTCCTGCGCTCCTGAGCGTTC	0.612																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(337-339)gGa>gAa		proline rich 23A							33.0	32.0	33.0					3																	138724773		692	1591	2283	SO:0001583	missense	729627							g.chr3:138724773C>T		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.338G>A	3.37:g.138724773C>T	ENSP00000372649:p.Gly113Glu					MRPS22_ENST00000495075.1_5'UTR	p.G113E	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	337	-			113						Missense_Mutation	SNP	ENST00000383163.2	37	c.338G>A	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	C	7.680	0.688841	0.14973	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.67	0.769	0.18492	.	0.632380	0.13066	N	0.416459	T	0.33644	0.0870	M	0.68593	2.085	0.09310	N	1	B	0.28971	0.229	B	0.23852	0.049	T	0.26744	-1.0094	9	0.41790	T	0.15	.	3.0801	0.06259	0.2644:0.5837:0.0:0.1519	.	113	A6NEV1	PR23A_HUMAN	E	113	.	ENSP00000372649:G113E	G	-	2	0	PRR23A	140207463	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.671000	0.05250	0.193000	0.20303	0.491000	0.48974	GGA		0.612	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		4	16	0	0	0	1	0	4	16				
IL1RAPL2	26280	broad.mit.edu	37	X	105011206	105011206	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:105011206G>T	ENST00000372582.1	+	11	2369	c.1613G>T	c.(1612-1614)gGa>gTa	p.G538V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G538V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	538	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGTGGAAGGGATCCAAAAGC	0.388																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1612-1614)gGa>gTa		interleukin 1 receptor accessory protein-like 2							109.0	114.0	112.0					X																	105011206		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011206G>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1613G>T	X.37:g.105011206G>T	ENSP00000361663:p.Gly538Val					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G538V|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G143V	p.G538V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			11	2369	+			538			TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1613G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672189	0.67928	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02656	4.21;4.21;4.21	5.87	5.87	0.94306	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000005	T	0.19327	0.0464	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00222	-1.1904	10	0.87932	D	0	.	17.9632	0.89092	0.0:0.0:1.0:0.0	.	538	Q9NP60	IRPL2_HUMAN	V	538;538;143	ENSP00000361663:G538V;ENSP00000344976:G538V;ENSP00000445576:G143V	ENSP00000344976:G538V	G	+	2	0	IL1RAPL2	104897862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.463000	0.83235	0.600000	0.82982	GGA		0.388	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		14	53	1	0	9.31168e-06	1	1.29658e-05	14	53				
GTF2IRD1	9569	broad.mit.edu	37	7	73933913	73933913	+	Silent	SNP	G	G	T	rs144465935		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:73933913G>T	ENST00000265755.3	+	6	1173	c.780G>T	c.(778-780)acG>acT	p.T260T	GTF2IRD1_ENST00000476977.1_Silent_p.T260T|GTF2IRD1_ENST00000424337.2_Silent_p.T260T|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.T292T	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	260					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTACAGCACGGCGCTCCCCA	0.692																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(778-780)acG>acT		GTF2I repeat domain containing 1							59.0	48.0	52.0					7																	73933913		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73933913G>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.780G>T	7.37:g.73933913G>T						GTF2IRD1_ENST00000265755.3_Silent_p.T260T|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.T292T|GTF2IRD1_ENST00000424337.2_Silent_p.T260T	p.T260T			Q9UHL9	GT2D1_HUMAN			6	2471	+			260					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.780G>T	CCDS5571.1																																																																																				0.692	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		4	35	1	0	0.00909568	1	0.00998677	4	35				
FRMPD1	22844	broad.mit.edu	37	9	37740133	37740133	+	Silent	SNP	C	C	A	rs553520754		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:37740133C>A	ENST00000539465.1	+	15	2201	c.1608C>A	c.(1606-1608)ctC>ctA	p.L536L	FRMPD1_ENST00000536622.1_Silent_p.L358L|FRMPD1_ENST00000541302.1_Silent_p.L405L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.L536L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	536						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTGCGTACTCGAACCTCTCT	0.557																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1606-1608)ctC>ctA		FERM and PDZ domain containing 1							81.0	87.0	85.0					9																	37740133		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740133C>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1608C>A	9.37:g.37740133C>A						FRMPD1_ENST00000536622.1_Silent_p.L358L|FRMPD1_ENST00000377765.3_Silent_p.L536L|FRMPD1_ENST00000541302.1_Silent_p.L405L|RP11-613M10.9_ENST00000540557.1_Intron	p.L536L			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2201	+			536					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1608C>A	CCDS6612.1																																																																																				0.557	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		6	67	1	0	0.00116845	1	0.00137844	6	67				
NUP62	23636	broad.mit.edu	37	19	50412511	50412511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50412511G>T	ENST00000596217.1	-	2	2441	c.554C>A	c.(553-555)cCt>cAt	p.P185H	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.P185H|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.P185H|NUP62_ENST00000597723.1_Missense_Mutation_p.P185H|NUP62_ENST00000413454.1_Missense_Mutation_p.P185H|NUP62_ENST00000597029.1_Missense_Mutation_p.P185H|NUP62_ENST00000600583.1_5'Flank			P37198	NUP62_HUMAN	nucleoporin 62kDa	185	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|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 programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAACGTGGCAGGTGCCGTGGG	0.632																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(553-555)cCt>cAt		nucleoporin 62kDa							70.0	72.0	71.0					19																	50412511		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412511G>T	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.554C>A	19.37:g.50412511G>T	ENSP00000471191:p.Pro185His					IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.P185H|NUP62_ENST00000422090.2_Missense_Mutation_p.P185H|NUP62_ENST00000597723.1_Missense_Mutation_p.P185H|NUP62_ENST00000597029.1_Missense_Mutation_p.P185H|NUP62_ENST00000352066.3_Missense_Mutation_p.P185H|IL4I1_ENST00000595948.1_Intron	p.P185H			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2441	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	185			15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.554C>A	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346361	0.41599	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.41400	1.0;1.0;1.0	5.07	4.06	0.47325	Nucleoporin, NSP1-like, C-terminal (1);	0.540191	0.16109	U	0.229195	T	0.29783	0.0744	L	0.29908	0.895	0.09310	N	1	P;P	0.44946	0.846;0.761	B;B	0.40329	0.326;0.258	T	0.13361	-1.0512	10	0.62326	D	0.03	-2.9949	7.0278	0.24950	0.8959:0.0:0.1041:0.0	.	185;185	Q8WYU3;P37198	.;NUP62_HUMAN	H	185	ENSP00000305503:P185H;ENSP00000407331:P185H;ENSP00000387991:P185H	ENSP00000321866:P185H	P	-	2	0	NUP62	55104323	0.416000	0.25424	0.030000	0.17652	0.082000	0.17680	2.367000	0.44213	1.082000	0.41137	-0.367000	0.07326	CCT		0.632	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		16	59	1	0	1.15088e-07	1	1.7657e-07	16	59				
MTUS1	57509	broad.mit.edu	37	8	17579397	17579397	+	Intron	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:17579397C>A	ENST00000262102.6	-	4	2674				MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_Missense_Mutation_p.G5V	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GCGAAATCCTCCTGGTACAGT	0.418																																						ENST00000381861.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(13-15)gGa>gTa		microtubule associated tumor suppressor 1							66.0	67.0	67.0					8																	17579397		1866	4103	5969	SO:0001627	intron_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17579397C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2449+1783G>T	8.37:g.17579397C>A						MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000519263.1_Intron	p.G5V	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	1	333	-			0					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.14G>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917510	0.73098	.	.	ENSG00000129422	ENST00000381861	T	0.23348	1.91	5.29	5.29	0.74685	.	.	.	.	.	T	0.54078	0.1836	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.58312	-0.7658	8	0.87932	D	0	.	19.3075	0.94169	0.0:1.0:0.0:0.0	.	5	Q9ULD2-6	.	V	5	ENSP00000371285:G5V	ENSP00000371285:G5V	G	-	2	0	MTUS1	17623677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.386000	0.59620	2.632000	0.89209	0.655000	0.94253	GGA		0.418	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		16	27	1	0	2.32078e-09	1	3.75493e-09	16	27				
OR5W2	390148	broad.mit.edu	37	11	55681737	55681737	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55681737C>A	ENST00000344514.1	-	1	321	c.322G>T	c.(322-324)Gca>Tca	p.A108S		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	108						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)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGAATCTGCAAAGATACAG	0.473																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(322-324)Gca>Tca		olfactory receptor, family 5, subfamily W, member 2							108.0	107.0	107.0					11																	55681737		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681737C>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.322G>T	11.37:g.55681737C>A	ENSP00000342448:p.Ala108Ser						p.A108S	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	321	-			108						Missense_Mutation	SNP	ENST00000344514.1	37	c.322G>T	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007755	0.35415	.	.	ENSG00000187612	ENST00000344514	T	0.01335	5.0	4.91	0.694	0.18062	GPCR, rhodopsin-like superfamily (1);	1.024250	0.07851	N	0.964632	T	0.02012	0.0063	L	0.42529	1.33	0.09310	N	1	B	0.15473	0.013	B	0.25405	0.06	T	0.46119	-0.9214	10	0.51188	T	0.08	.	8.1587	0.31185	0.0:0.5433:0.0:0.4567	.	108	Q8NH69	OR5W2_HUMAN	S	108	ENSP00000342448:A108S	ENSP00000342448:A108S	A	-	1	0	OR5W2	55438313	0.000000	0.05858	0.221000	0.23827	0.917000	0.54804	-1.004000	0.03678	0.104000	0.17725	0.549000	0.68633	GCA		0.473	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		15	53	1	0	1.05317e-09	1	1.71303e-09	15	53				
VCL	7414	broad.mit.edu	37	10	75854095	75854095	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:75854095G>T	ENST00000211998.4	+	11	1513	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.L473L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	473	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGCAGAACCTGCAGACCAAAA	0.557																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1417-1419)ctG>ctT		vinculin							51.0	49.0	50.0					10																	75854095		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75854095G>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1419G>T	10.37:g.75854095G>T						VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.L473L	p.L473L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			11	1513	+	Prostate(51;0.0112)		473			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.1419G>T	CCDS7341.1																																																																																				0.557	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		4	19	1	0	0.150653	1	0.155562	4	19				
CD93	22918	broad.mit.edu	37	20	23065565	23065565	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:23065565C>G	ENST00000246006.4	-	1	1412	c.1265G>C	c.(1264-1266)gGg>gCg	p.G422A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	422	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACTGAGTCCCGTCCTCCCC	0.647																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1264-1266)gGg>gCg		CD93 molecule							43.0	48.0	47.0					20																	23065565		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065565C>G	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1265G>C	20.37:g.23065565C>G	ENSP00000246006:p.Gly422Ala						p.G422A	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1412	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		422			EGF-like 4; calcium-binding (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1265G>C	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459532	0.26248	.	.	ENSG00000125810	ENST00000246006	D	0.95377	-3.69	5.18	-2.58	0.06228	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.750110	0.12118	N	0.497938	D	0.94175	0.8131	M	0.82517	2.595	0.09310	N	1	P	0.36162	0.54	B	0.37346	0.247	D	0.87951	0.2723	10	0.51188	T	0.08	-5.1525	10.023	0.42055	0.0:0.8086:0.1029:0.0885	.	422	Q9NPY3	C1QR1_HUMAN	A	422	ENSP00000246006:G422A	ENSP00000246006:G422A	G	-	2	0	CD93	23013565	0.000000	0.05858	0.002000	0.10522	0.106000	0.19336	-0.400000	0.07241	-0.666000	0.05310	0.650000	0.86243	GGG		0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		10	50	0	0	0	1	0	10	50				
ATXN2	6311	broad.mit.edu	37	12	111948253	111948253	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:111948253A>T	ENST00000377617.3	-	12	2333	c.2172T>A	c.(2170-2172)atT>atA	p.I724I	ATXN2_ENST00000542287.2_Silent_p.I459I|ATXN2_ENST00000608853.1_Silent_p.I564I|ATXN2_ENST00000535949.1_Silent_p.I435I|ATXN2_ENST00000550104.1_Silent_p.I724I|ATXN2_ENST00000389153.4_Silent_p.I459I	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	724	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ATGCAGCTGGAATAGGCATGG	0.502																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2170-2172)atT>atA		ataxin 2							179.0	182.0	181.0					12																	111948253		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111948253A>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2172T>A	12.37:g.111948253A>T						ATXN2_ENST00000550104.1_Silent_p.I724I|ATXN2_ENST00000389153.4_Silent_p.I459I|ATXN2_ENST00000542287.2_Silent_p.I459I|ATXN2_ENST00000535949.1_Silent_p.I435I	p.I724I	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			12	2333	-			724			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.2172T>A	CCDS31902.1																																																																																				0.502	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		14	108	0	0	0	1	0	14	108				
MARCKS	4082	broad.mit.edu	37	6	114181714	114181714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:114181714G>T	ENST00000368635.4	+	2	1339	c.958G>T	c.(958-960)Gag>Tag	p.E320*		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	320					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GGCCCAGCCCGAGTGCAGTCC	0.672																																						ENST00000368635.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(958-960)Gag>Tag		myristoylated alanine-rich protein kinase C substrate							36.0	47.0	43.0					6																	114181714		1631	3273	4904	SO:0001587	stop_gained	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181714G>T	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.958G>T	6.37:g.114181714G>T	ENSP00000357624:p.Glu320*						p.E320*	NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	1339	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	320					E1P560|Q2LA83|Q5TDB7	Nonsense_Mutation	SNP	ENST00000368635.4	37	c.958G>T	CCDS5101.1	.	.	.	.	.	.	.	.	.	.	G	37	6.148921	0.97324	.	.	ENSG00000155130	ENST00000368635	.	.	.	4.42	2.57	0.30868	.	0.980175	0.08293	N	0.968134	.	.	.	.	.	.	0.46241	D	0.998943	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9365	8.0008	0.30295	0.0868:0.0:0.7542:0.159	.	.	.	.	X	320	.	ENSP00000357624:E320X	E	+	1	0	MARCKS	114288407	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	4.370000	0.59517	0.557000	0.29117	0.557000	0.71058	GAG		0.672	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		7	33	1	0	0.0293803	1	0.0312145	7	33				
KCNV1	27012	broad.mit.edu	37	8	110980738	110980738	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:110980738G>C	ENST00000524391.1	-	4	2114	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.S361*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	361					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCTACAGTTGAAAATATAGA	0.478																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1081-1083)tCa>tGa		potassium channel, subfamily V, member 1							67.0	66.0	66.0					8																	110980738		2203	4300	6503	SO:0001587	stop_gained	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980738G>C	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1082C>G	8.37:g.110980738G>C	ENSP00000435954:p.Ser361*					KCNV1_ENST00000297404.1_Nonsense_Mutation_p.S361*	p.S361*			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2114	-	all_neural(195;0.219)		361					Q9UHJ4	Nonsense_Mutation	SNP	ENST00000524391.1	37	c.1082C>G	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	40	8.313263	0.98754	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.62	5.62	0.85841	.	0.067031	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6331	0.91368	0.0:0.0:1.0:0.0	.	.	.	.	X	361;361;237	.	ENSP00000297404:S361X	S	-	2	0	KCNV1	111049914	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.628000	0.89032	0.655000	0.94253	TCA		0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		6	52	0	0	0	1	0	6	52				
PCDHB2	56133	broad.mit.edu	37	5	140476414	140476414	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140476414G>T	ENST00000194155.4	+	1	2188	c.2040G>T	c.(2038-2040)ccG>ccT	p.P680P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	680					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.692																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2038-2040)ccG>ccT									64.0	67.0	66.0					5																	140476414		2174	4230	6404	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476414G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2040G>T	5.37:g.140476414G>T							p.P680P	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2188	+			680					Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.2040G>T	CCDS4244.1																																																																																				0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		23	107	1	0	1.10513e-12	1	1.85332e-12	23	107				
DTWD1	56986	broad.mit.edu	37	15	49924488	49924488	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:49924488A>C	ENST00000251250.6	+	4	604	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	DTWD1_ENST00000415425.1_Missense_Mutation_p.K46Q|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000403028.3_Missense_Mutation_p.K133Q|DTWD1_ENST00000558653.1_Missense_Mutation_p.K133Q	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	133										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		ATATGAAGAAAAGGACCATGA	0.323																																						ENST00000251250.6																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(397-399)Aag>Cag		DTW domain containing 1							74.0	73.0	73.0					15																	49924488		2196	4293	6489	SO:0001583	missense	56986							g.chr15:49924488A>C	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.397A>C	15.37:g.49924488A>C	ENSP00000251250:p.Lys133Gln					DTWD1_ENST00000403028.3_Missense_Mutation_p.K133Q|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.K46Q|DTWD1_ENST00000558653.1_Missense_Mutation_p.K133Q	p.K133Q	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)	4	604	+		all_lung(180;0.0384)	133					Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	c.397A>C	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.411862	0.25465	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.23950	1.88;1.88	5.06	-1.63	0.08345	DTW (1);	0.628656	0.17215	N	0.182574	T	0.09818	0.0241	N	0.10972	0.075	0.24176	N	0.995606	B;B	0.11235	0.001;0.004	B;B	0.09377	0.002;0.004	T	0.30592	-0.9973	9	.	.	.	-0.8455	5.8714	0.18805	0.4071:0.3811:0.2118:0.0	.	46;133	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	Q	133;133;46	ENSP00000385399:K133Q;ENSP00000251250:K133Q	.	K	+	1	0	DTWD1	47711780	0.973000	0.33851	0.987000	0.45799	0.997000	0.91878	0.331000	0.19733	-0.235000	0.09767	0.482000	0.46254	AAG		0.323	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		4	29	0	0	0	1	0	4	29				
SLC7A3	84889	broad.mit.edu	37	X	70148007	70148007	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:70148007T>C	ENST00000374299.3	-	5	952	c.808A>G	c.(808-810)Att>Gtt	p.I270V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.I270V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	270					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGGTAGCAATACAGTCGAAA	0.542																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(808-810)Att>Gtt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						93.0	77.0	83.0					X																	70148007		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148007T>C	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.808A>G	X.37:g.70148007T>C	ENSP00000363417:p.Ile270Val					SLC7A3_ENST00000298085.4_Missense_Mutation_p.I270V	p.I270V			Q8WY07	CTR3_HUMAN			5	952	-	Renal(35;0.156)		270					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.808A>G	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862667	0.71949	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89617	-2.54;-2.54	4.88	4.88	0.63580	Amino acid permease domain (1);	0.094768	0.64402	D	0.000001	D	0.89413	0.6708	L	0.43757	1.38	0.53005	D	0.999962	B	0.27380	0.177	P	0.44359	0.447	D	0.88848	0.3317	10	0.72032	D	0.01	.	12.7807	0.57474	0.0:0.0:0.0:1.0	.	270	Q8WY07	CTR3_HUMAN	V	270	ENSP00000363417:I270V;ENSP00000298085:I270V	ENSP00000298085:I270V	I	-	1	0	SLC7A3	70064732	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.735000	0.84939	1.810000	0.52873	0.430000	0.28490	ATT		0.542	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		5	8	0	0	0	1	0	5	8				
CDC23	8697	broad.mit.edu	37	5	137534413	137534413	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:137534413T>A	ENST00000394886.2	-	7	743	c.713A>T	c.(712-714)tAc>tTc	p.Y238F		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	238					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACTCTGTGTATATATGAGC	0.433																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(712-714)tAc>tTc		cell division cycle 23							132.0	144.0	140.0					5																	137534413		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137534413T>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.713A>T	5.37:g.137534413T>A	ENSP00000378350:p.Tyr238Phe						p.Y238F	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	743	-			238					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.713A>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555895	0.65425	.	.	ENSG00000094880	ENST00000394886	T	0.66815	-0.23	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.39633	1.23	0.80722	D	1	B	0.15141	0.012	B	0.20955	0.032	T	0.54899	-0.8224	10	0.35671	T	0.21	-9.7584	16.6407	0.85098	0.0:0.0:0.0:1.0	.	238	Q9UJX2	CDC23_HUMAN	F	238	ENSP00000378350:Y238F	ENSP00000378350:Y238F	Y	-	2	0	CDC23	137562312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	2.326000	0.78906	0.533000	0.62120	TAC		0.433	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			14	86	0	0	0	1	0	14	86				
RBPJL	11317	broad.mit.edu	37	20	43944845	43944845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43944845G>T	ENST00000343694.3	+	10	1111	c.1039G>T	c.(1039-1041)Gag>Tag	p.E347*	RBPJL_ENST00000372741.3_Nonsense_Mutation_p.E347*|RBPJL_ENST00000372743.1_Nonsense_Mutation_p.E347*|RBPJL_ENST00000464504.1_Intron	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	347					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTGCCCCAAGGAGGCGAACAG	0.627																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1039-1041)Gag>Tag		recombination signal binding protein for immunoglobulin kappa J region-like							80.0	76.0	77.0					20																	43944845		2203	4300	6503	SO:0001587	stop_gained	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43944845G>T	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1039G>T	20.37:g.43944845G>T	ENSP00000341243:p.Glu347*					RBPJL_ENST00000372743.1_Nonsense_Mutation_p.E347*|RBPJL_ENST00000372741.3_Nonsense_Mutation_p.E347*|RBPJL_ENST00000464504.1_Intron	p.E347*	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			10	1111	+		Myeloproliferative disorder(115;0.0122)	347					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Nonsense_Mutation	SNP	ENST00000343694.3	37	c.1039G>T	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	37	6.344660	0.97489	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	.	.	.	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-36.1537	16.8563	0.86007	0.0:0.0:1.0:0.0	.	.	.	.	X	347	.	ENSP00000341243:E347X	E	+	1	0	RBPJL	43378259	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.207000	0.95064	2.438000	0.82558	0.655000	0.94253	GAG		0.627	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		5	30	1	0	0.014758	1	0.0159185	5	30				
TRIM69	140691	broad.mit.edu	37	15	45047302	45047302	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:45047302C>A	ENST00000559390.1	+	3	1139	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TRIM69_ENST00000329464.4_Missense_Mutation_p.L71M|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000560442.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	71	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTTTTGGAGGCTGCAAGCAAA	0.458																																					Pancreas(84;519 1450 1802 20427 34706)	ENST00000559390.1																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20						c.(211-213)Ctg>Atg		tripartite motif containing 69							179.0	151.0	160.0					15																	45047302		2198	4298	6496	SO:0001583	missense	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45047302C>A	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.211C>A	15.37:g.45047302C>A	ENSP00000453177:p.Leu71Met					TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.L71M|TRIM69_ENST00000560442.1_Intron	p.L71M			Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	3	1139	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	71			Necessary for nuclear localization (By similarity).		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.211C>A	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	C	9.977	1.227127	0.22542	.	.	ENSG00000185880	ENST00000329464	T	0.08193	3.12	5.26	3.34	0.38264	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.180070	0.06157	N	0.675193	T	0.07908	0.0198	L	0.28014	0.82	0.19575	N	0.999962	B	0.22746	0.074	B	0.17979	0.02	T	0.38308	-0.9667	10	0.46703	T	0.11	.	8.7241	0.34458	0.171:0.6642:0.1647:0.0	.	71	Q86WT6	TRI69_HUMAN	M	71	ENSP00000332284:L71M	ENSP00000332284:L71M	L	+	1	2	TRIM69	42834594	0.043000	0.20138	0.985000	0.45067	0.685000	0.39939	0.229000	0.17833	0.705000	0.31890	0.557000	0.71058	CTG		0.458	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			16	83	1	0	0.00316338	1	0.00363393	16	83				
PCLO	27445	broad.mit.edu	37	7	82544059	82544059	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82544059C>A	ENST00000333891.9	-	7	13580	c.13243G>T	c.(13243-13245)Gac>Tac	p.D4415Y	PCLO_ENST00000437081.1_Missense_Mutation_p.D1135Y|PCLO_ENST00000423517.2_Missense_Mutation_p.D4415Y	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						ATGTCACGGTCATAGCCTCGA	0.468																																						ENST00000423517.2																			0				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						c.(13243-13245)Gac>Tac		piccolo presynaptic cytomatrix protein							84.0	83.0	83.0					7																	82544059		2047	4187	6234	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544059C>A	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.13243G>T	7.37:g.82544059C>A	ENSP00000334319:p.Asp4415Tyr					PCLO_ENST00000437081.1_Missense_Mutation_p.D1135Y|PCLO_ENST00000333891.8_Missense_Mutation_p.D4415Y	p.D4415Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13580	-			4346						Missense_Mutation	SNP	ENST00000333891.9	37	c.13243G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466039	0.63625	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18502	2.21;2.21	5.75	5.75	0.90469	.	.	.	.	.	T	0.41926	0.1180	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.972;0.991;0.991	T	0.11966	-1.0566	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	4346;4415;4415	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Y	4415;4415;1135	ENSP00000334319:D4415Y;ENSP00000388393:D4415Y	ENSP00000334319:D4415Y	D	-	1	0	PCLO	82381995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.725000	0.93324	0.655000	0.94253	GAC		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	23	1	0	1	1	1	3	23				
TSN	7247	broad.mit.edu	37	2	122522771	122522771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:122522771C>G	ENST00000389682.3	+	6	762	c.515C>G	c.(514-516)aCc>aGc	p.T172S	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Missense_Mutation_p.H145Q|TSN_ENST00000409193.1_Missense_Mutation_p.T167S	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	172					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				CACATCTCCACCTTCATCAAT	0.493																																						ENST00000389682.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12						c.(514-516)aCc>aGc		translin							243.0	243.0	243.0					2																	122522771		2203	4300	6503	SO:0001583	missense	7247				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding	g.chr2:122522771C>G	X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.515C>G	2.37:g.122522771C>G	ENSP00000374332:p.Thr172Ser					TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Missense_Mutation_p.H145Q|TSN_ENST00000409193.1_Missense_Mutation_p.T167S	p.T172S	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN			6	762	+		Ovarian(717;0.0563)|Prostate(154;0.116)	172					B7Z3X8|Q5U0K7	Missense_Mutation	SNP	ENST00000389682.3	37	c.515C>G	CCDS33284.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.12|13.12|13.12	2.143138|2.143138|2.143138	0.37825|0.37825|0.37825	.|.|.	.|.|.	ENSG00000211460|ENSG00000211460|ENSG00000211460	ENST00000536142|ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.|.	.|.|.	.|.|.	5.57|5.57|5.57	4.7|4.7|4.7	0.59300|0.59300|0.59300	.|.|Translin, C-terminal (1);	.|.|0.096756	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.20292|0.20292|0.20292	0.0488|0.0488|0.0488	N|N|N	0.04508|0.04508|0.04508	-0.205|-0.205|-0.205	0.25522|0.25522|0.25522	N|N|N	0.987352|0.987352|0.987352	B|.|B;B	0.02656|.|0.02656	0.0|.|0.0;0.0	B|.|B;B	0.01281|.|0.04013	0.0|.|0.001;0.0	T|T|T	0.10382|0.10382|0.10382	-1.0632|-1.0632|-1.0632	8|5|9	0.72032|.|0.08837	D|.|T	0.01|.|0.75	-14.4771|-14.4771|-14.4771	14.1522|14.1522|14.1522	0.65392|0.65392|0.65392	0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727	.|.|.	145|.|125;172	B7Z3X8|.|B3KRM8;Q15631	.|.|.;TSN_HUMAN	Q|A|S	145|178|172;138;167	.|.|.	ENSP00000437728:H145Q|.|ENSP00000374332:T172S	H|P|T	+|+|+	3|1|2	2|0|0	TSN|TSN|TSN	122239241|122239241|122239241	0.814000|0.814000|0.814000	0.29104|0.29104|0.29104	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	4.734000|4.734000|4.734000	0.62043|0.62043|0.62043	1.488000|1.488000|1.488000	0.48433|0.48433|0.48433	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CCT|ACC		0.493	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330767.1	NM_004622		9	171	0	0	0	1	0	9	171				
SOWAHB	345079	broad.mit.edu	37	4	77817743	77817743	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:77817743T>C	ENST00000334306.2	-	1	1259	c.1260A>G	c.(1258-1260)gaA>gaG	p.E420E		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	420																	GCAGCCCCTCTTCAGAAGCCC	0.607																																						ENST00000334306.2																			0											c.(1258-1260)gaA>gaG		sosondowah ankyrin repeat domain family member B							53.0	64.0	60.0					4																	77817743		2203	4300	6503	SO:0001819	synonymous_variant	345079							g.chr4:77817743T>C		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1260A>G	4.37:g.77817743T>C							p.E420E	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1259	-			420					B2RP29	Silent	SNP	ENST00000334306.2	37	c.1260A>G	CCDS34017.1																																																																																				0.607	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		13	64	0	0	0	1	0	13	64				
CLU	1191	broad.mit.edu	37	8	27463875	27463875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:27463875C>A	ENST00000316403.10	-	4	818	c.413G>T	c.(412-414)cGc>cTc	p.R138L	CLU_ENST00000523500.1_Missense_Mutation_p.R138L|CLU_ENST00000546343.1_Missense_Mutation_p.R149L|CLU_ENST00000405140.3_Missense_Mutation_p.R138L|CLU_ENST00000560366.1_Missense_Mutation_p.R190L			P10909	CLUS_HUMAN	clusterin	138					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTTCACCTGGCGGCCAACCAG	0.552																																						ENST00000316403.10																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21						c.(412-414)cGc>cTc		clusterin							81.0	75.0	77.0					8																	27463875		2203	4300	6503	SO:0001583	missense	1191				chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	g.chr8:27463875C>A	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.413G>T	8.37:g.27463875C>A	ENSP00000315130:p.Arg138Leu					CLU_ENST00000405140.3_Missense_Mutation_p.R138L|CLU_ENST00000523500.1_Missense_Mutation_p.R138L|CLU_ENST00000546343.1_Missense_Mutation_p.R149L|CLU_ENST00000560366.1_Missense_Mutation_p.R190L	p.R138L			P10909	CLUS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)	4	818	-		Ovarian(32;2.61e-05)	138					B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	c.413G>T	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385020	0.82792	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000523589;ENST00000520796;ENST00000519742	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.52	-6.94	0.01633	Clusterin, N-terminal (1);	0.414873	0.28927	N	0.013699	T	0.29458	0.0734	M	0.62723	1.935	0.27441	N	0.953729	P;P;P	0.48503	0.891;0.891;0.911	P;P;P	0.51453	0.54;0.54;0.67	T	0.30179	-0.9987	10	0.72032	D	0.01	-7.8341	11.3501	0.49583	0.0:0.7452:0.0987:0.1561	.	190;149;138	P10909-2;P10909-5;P10909	.;.;CLUS_HUMAN	L	190;149;138;138;138;138;138	ENSP00000446413:R149L;ENSP00000385419:R138L;ENSP00000429620:R138L;ENSP00000431070:R138L;ENSP00000429336:R138L;ENSP00000431026:R138L	ENSP00000315130:R190L	R	-	2	0	CLU	27519792	0.074000	0.21230	0.017000	0.16124	0.706000	0.40770	0.312000	0.19397	-1.298000	0.02348	-0.150000	0.13652	CGC		0.552	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831		14	37	1	0	9.31168e-06	1	1.29658e-05	14	37				
KCNJ16	3773	broad.mit.edu	37	17	68128152	68128152	+	5'UTR	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:68128152C>G	ENST00000589377.1	+	0	87				KCNJ16_ENST00000283936.1_5'UTR|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P14R|KCNJ16_ENST00000392670.1_5'UTR|KCNJ16_ENST00000585558.1_Missense_Mutation_p.P10R|KCNJ16_ENST00000392671.1_5'UTR	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTGAAAACCCAAACCAAGAA	0.373																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(28-30)cCa>cGa		potassium inwardly-rectifying channel, subfamily J, member 16																																				SO:0001623	5_prime_UTR_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128152C>G	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.-77C>G	17.37:g.68128152C>G						KCNJ16_ENST00000392670.1_5'UTR|KCNJ16_ENST00000283936.1_5'UTR|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P14R|KCNJ16_ENST00000589377.1_5'UTR|KCNJ16_ENST00000392671.1_5'UTR	p.P10R			Q9NPI9	IRK16_HUMAN			4	417	+	Breast(10;2.96e-09)		0						Missense_Mutation	SNP	ENST00000589377.1	37	c.29C>G	CCDS11687.1																																																																																				0.373	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		3	8	0	0	0	1	0	3	8				
OR5D13	390142	broad.mit.edu	37	11	55541282	55541282	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55541282C>T	ENST00000361760.1	+	1	369	c.369C>T	c.(367-369)gaC>gaT	p.D123D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	123						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGCTTATGACCGTTTTGTGG	0.428																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(367-369)gaC>gaT		olfactory receptor, family 5, subfamily D, member 13							239.0	231.0	234.0					11																	55541282		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541282C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.369C>T	11.37:g.55541282C>T							p.D123D	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	369	+		all_epithelial(135;0.196)	123					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.369C>T	CCDS31507.1																																																																																				0.428	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		20	136	0	0	0	1	0	20	136				
PCDHB12	56124	broad.mit.edu	37	5	140588845	140588845	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140588845G>T	ENST00000239450.2	+	1	555	c.366G>T	c.(364-366)caG>caT	p.Q122H	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	122	Cadherin 1. {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(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGAGCTCCAGGTCAGGGATA	0.443																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(364-366)caG>caT									99.0	110.0	106.0					5																	140588845		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588845G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.366G>T	5.37:g.140588845G>T	ENSP00000239450:p.Gln122His					PCDHB12_ENST00000541609.1_Intron	p.Q122H	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	555	+			122			Cadherin 1.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.366G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	1.380	-0.583789	0.03827	.	.	ENSG00000120328	ENST00000239450	T	0.48522	0.81	4.25	0.847	0.18961	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.30293	0.0760	N	0.21448	0.665	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.20009	-1.0288	9	0.41790	T	0.15	.	6.9049	0.24303	0.2175:0.141:0.6415:0.0	.	122	Q9Y5F1	PCDBC_HUMAN	H	122	ENSP00000239450:Q122H	ENSP00000239450:Q122H	Q	+	3	2	PCDHB12	140569029	0.000000	0.05858	0.499000	0.27577	0.333000	0.28666	-2.843000	0.00736	0.376000	0.24707	-0.225000	0.12378	CAG		0.443	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		7	72	1	0	2.7689e-08	1	4.35722e-08	7	72				
TF	7018	broad.mit.edu	37	3	133473404	133473404	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:133473404C>A	ENST00000402696.3	+	4	876	c.391C>A	c.(391-393)Ctt>Att	p.L131I	TF_ENST00000264998.3_Missense_Mutation_p.L4I|TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	131	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GATGAACCAGCTTCGAGGCAA	0.522																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(391-393)Ctt>Att		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						158.0	151.0	154.0					3																	133473404		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133473404C>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.391C>A	3.37:g.133473404C>A	ENSP00000385834:p.Leu131Ile					TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.L4I|TFP1_ENST00000460564.1_RNA	p.L131I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			4	876	+			131			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.391C>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776633	0.70107	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.67523	-0.27;0.63;-0.27	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	H	0.97540	4.025	0.80722	D	1	D	0.56287	0.975	D	0.76071	0.987	D	0.92175	0.5747	10	0.87932	D	0	-28.586	17.7713	0.88493	0.0:1.0:0.0:0.0	.	131	P02787	TRFE_HUMAN	I	131;4;4	ENSP00000385834:L131I;ENSP00000419338:L4I;ENSP00000264998:L4I	ENSP00000264998:L4I	L	+	1	0	TF	134956094	0.997000	0.39634	0.936000	0.37596	0.169000	0.22640	3.753000	0.55180	2.744000	0.94065	0.561000	0.74099	CTT		0.522	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		30	131	1	0	2.12542e-12	1	3.55138e-12	30	131				
KIAA1456	57604	broad.mit.edu	37	8	12870299	12870299	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:12870299C>A	ENST00000524591.2	+	4	750	c.261C>A	c.(259-261)gcC>gcA	p.A87A	KIAA1456_ENST00000447063.2_Silent_p.A87A	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	87							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GATGTGAAGCCATGGTATGTG	0.498																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(259-261)gcC>gcA		KIAA1456							132.0	132.0	132.0					8																	12870299		1993	4172	6165	SO:0001819	synonymous_variant	57604						methyltransferase activity	g.chr8:12870299C>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.261C>A	8.37:g.12870299C>A						KIAA1456_ENST00000447063.2_Silent_p.A87A	p.A87A	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			4	750	+			87					Q96AW6	Silent	SNP	ENST00000524591.2	37	c.261C>A	CCDS47808.1																																																																																				0.498	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		16	25	1	0	1.3612e-06	1	2.00472e-06	16	25				
COL7A1	1294	broad.mit.edu	37	3	48610629	48610629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:48610629G>A	ENST00000328333.8	-	84	6799	c.6692C>T	c.(6691-6693)cCc>cTc	p.P2231L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2199L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2231	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCGGGGGGTCCAGGAAG	0.602																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(6691-6693)cCc>cTc		collagen, type VII, alpha 1							57.0	57.0	57.0					3																	48610629		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48610629G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6692C>T	3.37:g.48610629G>A	ENSP00000332371:p.Pro2231Leu					COL7A1_ENST00000454817.1_Missense_Mutation_p.P2199L	p.P2231L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	84	6799	-			2231			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6692C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041156	0.35989	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.98684	-5.07;-5.07	5.45	5.45	0.79879	.	0.000000	0.46758	D	0.000273	D	0.98623	0.9539	L	0.54965	1.715	0.58432	D	0.999998	D	0.89917	1.0	D	0.74023	0.982	D	0.98652	1.0680	10	0.22109	T	0.4	.	17.47	0.87643	0.0:0.0:1.0:0.0	.	2231	Q02388	CO7A1_HUMAN	L	2231;2199	ENSP00000332371:P2231L;ENSP00000412569:P2199L	ENSP00000332371:P2231L	P	-	2	0	COL7A1	48585633	1.000000	0.71417	0.939000	0.37840	0.328000	0.28507	7.910000	0.87451	2.566000	0.86566	0.561000	0.74099	CCC		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		7	27	0	0	0	1	0	7	27				
DPYD	1806	broad.mit.edu	37	1	98157300	98157300	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:98157300A>T	ENST00000370192.3	-	7	835	c.735T>A	c.(733-735)atT>atA	p.I245I	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	245					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCATTAGCTCAATCTCAAAAT	0.373																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(733-735)atT>atA		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						102.0	103.0	102.0					1																	98157300		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98157300A>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.735T>A	1.37:g.98157300A>T						DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	p.I245I	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	7	835	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	245					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.735T>A	CCDS30777.1																																																																																				0.373	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		4	33	0	0	0	1	0	4	33				
GFM2	84340	broad.mit.edu	37	5	74034158	74034158	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:74034158A>T	ENST00000296805.3	-	14	1762	c.1305T>A	c.(1303-1305)acT>acA	p.T435T	GFM2_ENST00000515125.1_5'Flank|GFM2_ENST00000345239.2_Silent_p.T388T|GFM2_ENST00000427854.2_Silent_p.T435T|GFM2_ENST00000509430.1_Silent_p.T435T	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAAGCCCAACAGTCAAAGCAA	0.348																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(1303-1305)acT>acA		G elongation factor, mitochondrial 2							123.0	121.0	121.0					5																	74034158		2203	4300	6503	SO:0001819	synonymous_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74034158A>T	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1305T>A	5.37:g.74034158A>T						GFM2_ENST00000427854.2_Silent_p.T435T|GFM2_ENST00000509430.1_Silent_p.T435T|GFM2_ENST00000345239.2_Silent_p.T388T	p.T435T	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	14	1762	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	435						Silent	SNP	ENST00000296805.3	37	c.1305T>A	CCDS4023.1																																																																																				0.348	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		11	57	0	0	0	1	0	11	57				
CES2	8824	broad.mit.edu	37	16	66975088	66975088	+	Missense_Mutation	SNP	G	G	A	rs370215290		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:66975088G>A	ENST00000317091.4	+	6	2054	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.R357Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	293					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GGCTGCCTGCGGGGCAAGAGT	0.572																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1069-1071)cGg>cAg		carboxylesterase 2		G	GLN/ARG,GLN/ARG	0,4400		0,0,2200	70.0	71.0	71.0		1070,1070	3.5	1.0	16		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CES2	NM_003869.5,NM_198061.2	43,43	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	357/624,357/608	66975088	1,12999	2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66975088G>A	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1070G>A	16.37:g.66975088G>A	ENSP00000317842:p.Arg357Gln					CES2_ENST00000417689.1_Missense_Mutation_p.R357Q	p.R357Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	6	2054	+		Ovarian(137;0.0563)	293					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1070G>A	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658393	0.47467	0.0	1.16E-4	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.64260	-0.09;-0.09	5.4	3.45	0.39498	Carboxylesterase, type B (1);	0.255046	0.28135	N	0.016466	T	0.67344	0.2883	M	0.80746	2.51	0.28713	N	0.903454	P;P	0.49783	0.797;0.928	P;P	0.48921	0.453;0.595	T	0.65965	-0.6040	10	0.72032	D	0.01	.	7.9468	0.29991	0.1821:0.0:0.8179:0.0	.	293;357	O00748;A8K367	EST2_HUMAN;.	Q	357	ENSP00000394452:R357Q;ENSP00000317842:R357Q	ENSP00000317842:R357Q	R	+	2	0	CES2	65532589	0.014000	0.17966	0.955000	0.39395	0.994000	0.84299	1.844000	0.39269	0.838000	0.34948	0.655000	0.94253	CGG		0.572	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		5	35	0	0	0	1	0	5	35				
GCM1	8521	broad.mit.edu	37	6	52995701	52995701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:52995701G>A	ENST00000259803.7	-	5	681	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	157					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTTGGTTTCTGGTTTTGGATG	0.438																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(469-471)cCa>cTa		glial cells missing homolog 1 (Drosophila)							383.0	297.0	326.0					6																	52995701		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52995701G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.470C>T	6.37:g.52995701G>A	ENSP00000259803:p.Pro157Leu						p.P157L	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			5	681	-	Lung NSC(77;0.0755)		157					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.470C>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572630	0.86542	.	.	ENSG00000137270	ENST00000259803	D	0.82803	-1.65	5.56	4.67	0.58626	.	0.075912	0.56097	D	0.000033	D	0.88808	0.6537	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90727	0.4639	10	0.87932	D	0	.	16.2581	0.82526	0.0:0.133:0.867:0.0	.	157	Q9NP62	GCM1_HUMAN	L	157	ENSP00000259803:P157L	ENSP00000259803:P157L	P	-	2	0	GCM1	53103660	1.000000	0.71417	0.961000	0.40146	0.937000	0.57800	8.442000	0.90317	1.317000	0.45149	0.650000	0.86243	CCA		0.438	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			7	51	0	0	0	1	0	7	51				
BCAS1	8537	broad.mit.edu	37	20	52611551	52611551	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:52611551C>A	ENST00000395961.3	-	6	1093	c.927G>T	c.(925-927)acG>acT	p.T309T	BCAS1_ENST00000434986.2_Splice_Site_p.T22T|BCAS1_ENST00000371440.3_Splice_Site_p.T309T|BCAS1_ENST00000371435.2_Splice_Site_p.T309T	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACTACCTACCGTGTCTTCTG	0.348																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.e6+1		breast carcinoma amplified sequence 1							185.0	200.0	195.0					20																	52611551		2203	4300	6503	SO:0001630	splice_region_variant	8537					cytoplasm	protein binding	g.chr20:52611551C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.927+1G>T	20.37:g.52611551C>A						BCAS1_ENST00000434986.2_Splice_Site_p.T22_splice|BCAS1_ENST00000371435.2_Splice_Site_p.T309_splice|BCAS1_ENST00000371440.3_Splice_Site_p.T309_splice	p.T309_splice	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		6	1093	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		309					A0AVG5|Q68CZ3	Splice_Site	SNP	ENST00000395961.3	37	c.927_splice	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669886	0.47677	.	.	ENSG00000064787	ENST00000422805	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	T	0.73729	0.3624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71537	-0.4563	4	.	.	.	-4.1201	16.8744	0.86047	0.0:1.0:0.0:0.0	.	.	.	.	L	28	.	.	R	-	2	0	BCAS1	52044958	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.478000	0.60230	2.760000	0.94817	0.655000	0.94253	CGG		0.348	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657	Silent	20	81	1	0	3.99206e-14	1	6.73156e-14	20	81				
MSANTD3	91283	broad.mit.edu	37	9	103204404	103204404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:103204404G>C	ENST00000395067.2	+	2	455	c.184G>C	c.(184-186)Gtg>Ctg	p.V62L	TMEFF1_ENST00000334943.6_5'Flank|MSANTD3_ENST00000374885.1_Missense_Mutation_p.V62L|MSANTD3-TMEFF1_ENST00000502978.1_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	62	Myb-like.									endometrium(2)|lung(2)	4						TCAGCCCAGCGTGTCCCTGCG	0.493																																						ENST00000395067.2																			0				endometrium(2)|lung(2)	4						c.(184-186)Gtg>Ctg		Myb/SANT-like DNA-binding domain containing 3							44.0	44.0	44.0					9																	103204404		2203	4300	6503	SO:0001583	missense	91283							g.chr9:103204404G>C	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.184G>C	9.37:g.103204404G>C	ENSP00000378506:p.Val62Leu					MSANTD3_ENST00000374885.1_Missense_Mutation_p.V62L	p.V62L	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1					2	455	+								B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.184G>C	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048031	0.75846	.	.	ENSG00000066697	ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	T	0.62551	0.2437	N	0.22421	0.69	0.46586	D	0.999112	D	0.58620	0.983	D	0.69142	0.962	T	0.53351	-0.8451	8	0.11794	T	0.64	-11.0694	19.2934	0.94112	0.0:0.0:1.0:0.0	.	62	Q96H12	CI030_HUMAN	L	62	.	ENSP00000364020:V62L	V	+	1	0	C9orf30	102244225	1.000000	0.71417	0.891000	0.34965	0.829000	0.46940	6.774000	0.75012	2.814000	0.96858	0.650000	0.86243	GTG		0.493	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		9	30	0	0	0	1	0	9	30				
SLC25A3	5250	broad.mit.edu	37	12	98989533	98989533	+	Intron	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:98989533G>A	ENST00000228318.3	+	3	402				SLC25A3_ENST00000188376.5_Silent_p.K62K|SLC25A3_ENST00000401722.3_Silent_p.K62K|SLC25A3_ENST00000552981.1_Silent_p.K62K|SLC25A3_ENST00000547534.1_Silent_p.K62K|SLC25A3_ENST00000549338.1_Silent_p.K62K|SLC25A3_ENST00000548847.1_Silent_p.K62K|SLC25A3_ENST00000551917.1_Intron	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3						generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTCCGCGAAGTATTATGCAC	0.433																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(184-186)aaG>aaA		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							205.0	197.0	200.0					12																	98989533		2203	4300	6503	SO:0001627	intron_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98989533G>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.282+198G>A	12.37:g.98989533G>A						SLC25A3_ENST00000547534.1_Silent_p.K62K|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000552981.1_Silent_p.K62K|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000549338.1_Silent_p.K62K|SLC25A3_ENST00000548847.1_Silent_p.K62K|SLC25A3_ENST00000401722.3_Silent_p.K62K	p.K62K	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	2	540	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	63					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.186G>A	CCDS9066.1																																																																																				0.433	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		4	66	0	0	0	1	0	4	66				
HTR5A	3361	broad.mit.edu	37	7	154875955	154875955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:154875955C>T	ENST00000287907.2	+	2	1408	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	278					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GTGGCGGGAGCAGAAGGAGCA	0.612																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(832-834)Cag>Tag		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							108.0	85.0	93.0					7																	154875955		2203	4300	6503	SO:0001587	stop_gained	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875955C>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.832C>T	7.37:g.154875955C>T	ENSP00000287907:p.Gln278*					HTR5A_ENST00000486819.1_3'UTR	p.Q278*	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	1408	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	278					Q2M2D2	Nonsense_Mutation	SNP	ENST00000287907.2	37	c.832C>T	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	38	7.041397	0.98021	.	.	ENSG00000157219	ENST00000287907	.	.	.	4.93	3.95	0.45737	.	0.756434	0.13012	N	0.420739	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8927	0.79312	0.1447:0.8553:0.0:0.0	.	.	.	.	X	278	.	ENSP00000287907:Q278X	Q	+	1	0	HTR5A	154506888	1.000000	0.71417	0.947000	0.38551	0.136000	0.21042	4.664000	0.61540	2.274000	0.75844	0.655000	0.94253	CAG		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		5	53	0	0	0	1	0	5	53				
TRIM49	57093	broad.mit.edu	37	11	89537433	89537433	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:89537433G>A	ENST00000329758.1	-	3	533	c.205C>T	c.(205-207)Cat>Tat	p.H69Y	TRIM49_ENST00000532501.2_Missense_Mutation_p.H69Y	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	69						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCTTCAAATGAATGTTGGTT	0.458																																						ENST00000329758.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(205-207)Cat>Tat		tripartite motif containing 49							76.0	71.0	73.0					11																	89537433		2190	4295	6485	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89537433G>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.205C>T	11.37:g.89537433G>A	ENSP00000327604:p.His69Tyr					TRIM49_ENST00000532501.2_Missense_Mutation_p.H69Y	p.H69Y	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			3	533	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	69					A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.205C>T	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.893447	0.00522	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	D	0.84589	-1.87	0.821	-1.64	0.08318	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.62405	0.2425	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.17098	0.017	T	0.43458	-0.9390	8	.	.	.	.	0.1536	0.00096	0.2424:0.2503:0.2566:0.2506	.	69	P0CI25	TRI49_HUMAN	Y	69	ENSP00000327604:H69Y	.	H	-	1	0	TRIM49	89177081	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.422000	0.01030	-1.796000	0.01253	0.194000	0.17425	CAT		0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		4	55	0	0	0	1	0	4	55				
MBD5	55777	broad.mit.edu	37	2	149226129	149226129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:149226129G>A	ENST00000407073.1	+	9	1614	c.617G>A	c.(616-618)aGt>aAt	p.S206N	MBD5_ENST00000404807.1_Missense_Mutation_p.S206N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	206					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGGGCAGCAGTGAACATGGA	0.522																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(616-618)aGt>aAt		methyl-CpG binding domain protein 5							114.0	110.0	111.0					2																	149226129		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226129G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.617G>A	2.37:g.149226129G>A	ENSP00000386049:p.Ser206Asn					MBD5_ENST00000404807.1_Missense_Mutation_p.S206N	p.S206N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	1614	+			206					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.617G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	7.635	0.679692	0.14907	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.45276	0.95;0.9	5.16	3.37	0.38596	.	0.244886	0.36628	N	0.002490	T	0.25195	0.0612	N	0.19112	0.55	0.35675	D	0.813593	B	0.02656	0.0	B	0.04013	0.001	T	0.15464	-1.0436	10	0.28530	T	0.3	-0.9105	8.6689	0.34138	0.2943:0.0:0.7057:0.0	.	206	Q9P267	MBD5_HUMAN	N	206	ENSP00000386049:S206N;ENSP00000384672:S206N	ENSP00000384672:S206N	S	+	2	0	MBD5	148942599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.515000	0.35845	0.696000	0.31696	-0.216000	0.12614	AGT		0.522	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			5	86	0	0	0	1	0	5	86				
TAF1L	138474	broad.mit.edu	37	9	32635060	32635060	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:32635060G>A	ENST00000242310.4	-	1	607	c.518C>T	c.(517-519)gCt>gTt	p.A173V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	173					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACAGGTAATAGCATCTTGGTC	0.463																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(517-519)gCt>gTt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							198.0	156.0	170.0					9																	32635060		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635060G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.518C>T	9.37:g.32635060G>A	ENSP00000418379:p.Ala173Val					RP11-555J4.4_ENST00000430787.1_RNA	p.A173V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	607	-			173					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.518C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	9.807	1.182051	0.21787	.	.	ENSG00000122728	ENST00000242310	T	0.08193	3.12	1.04	-0.0394	0.13876	.	0.986699	0.08279	N	0.970187	T	0.06234	0.0161	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42716	-0.9435	10	0.33141	T	0.24	.	2.9388	0.05823	0.3819:0.0:0.6181:0.0	.	173	Q8IZX4	TAF1L_HUMAN	V	173	ENSP00000418379:A173V	ENSP00000418379:A173V	A	-	2	0	TAF1L	32625060	0.034000	0.19679	0.923000	0.36655	0.242000	0.25591	0.770000	0.26618	0.514000	0.28300	0.205000	0.17691	GCT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			17	44	0	0	0	1	0	17	44				
ZSWIM4	65249	broad.mit.edu	37	19	13919658	13919658	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:13919658G>C	ENST00000254323.2	+	4	910	c.721G>C	c.(721-723)Gac>Cac	p.D241H	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	241							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGGTGCCCCAGACCCCACCGC	0.592																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(721-723)Gac>Cac		zinc finger, SWIM-type containing 4							10.0	11.0	11.0					19																	13919658		2176	4271	6447	SO:0001583	missense	65249						zinc ion binding	g.chr19:13919658G>C	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.721G>C	19.37:g.13919658G>C	ENSP00000254323:p.Asp241His					ZSWIM4_ENST00000440752.2_5'UTR	p.D241H	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		4	910	+			241						Missense_Mutation	SNP	ENST00000254323.2	37	c.721G>C	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875460	0.51695	.	.	ENSG00000132003	ENST00000254323	T	0.44083	0.93	3.86	3.86	0.44501	.	0.000000	0.53938	U	0.000047	T	0.69079	0.3071	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77067	-0.2725	10	0.87932	D	0	-26.1375	13.2737	0.60177	0.0:0.0:1.0:0.0	.	241	Q9H7M6	ZSWM4_HUMAN	H	241	ENSP00000254323:D241H	ENSP00000254323:D241H	D	+	1	0	ZSWIM4	13780658	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	9.443000	0.97568	1.715000	0.51383	0.185000	0.17295	GAC		0.592	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		3	8	0	0	0	1	0	3	8				
PLCB2	5330	broad.mit.edu	37	15	40591370	40591370	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:40591370G>A	ENST00000260402.3	-	8	891	c.642C>T	c.(640-642)agC>agT	p.S214S	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.S214S|PLCB2_ENST00000456256.2_Silent_p.S214S	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	214					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGGACAGAGGCTCATGAGGA	0.498																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(640-642)agC>agT		phospholipase C, beta 2							122.0	128.0	126.0					15																	40591370		1975	4138	6113	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591370G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.642C>T	15.37:g.40591370G>A						PLCB2_ENST00000456256.2_Silent_p.S214S|PLCB2_ENST00000557821.1_Silent_p.S214S	p.S214S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	8	891	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	214					A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.642C>T	CCDS42020.1																																																																																				0.498	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			5	44	0	0	0	1	0	5	44				
HIST1H3B	8358	broad.mit.edu	37	6	26031973	26031973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26031973C>T	ENST00000244661.2	-	1	315	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTGTGTCCTCAAAGAGCCCT	0.542																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(316-318)Gag>Aag		histone cluster 1, H3b							76.0	77.0	77.0					6																	26031973		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031973C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.316G>A	6.37:g.26031973C>T	ENSP00000244661:p.Glu106Lys						p.E106K	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	315	-			106					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.316G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	16.80	3.224253	0.58668	.	.	ENSG00000124693	ENST00000244661	T	0.71341	-0.56	5.07	5.07	0.68467	.	.	.	.	.	T	0.80003	0.4544	.	.	.	0.47994	D	0.999564	.	.	.	.	.	.	T	0.82824	-0.0266	6	0.87932	D	0	.	17.7852	0.88535	0.0:1.0:0.0:0.0	.	.	.	.	K	106	ENSP00000244661:E106K	ENSP00000244661:E106K	E	-	1	0	HIST1H3B	26139952	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	7.492000	0.81482	2.487000	0.83934	0.561000	0.74099	GAG		0.542	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		6	38	0	0	0	1	0	6	38				
HNF4A	3172	broad.mit.edu	37	20	43043208	43043208	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:43043208C>T	ENST00000316099.4	+	5	643	c.554C>T	c.(553-555)gCa>gTa	p.A185V	HNF4A_ENST00000415691.2_Missense_Mutation_p.A185V|HNF4A_ENST00000316673.4_Missense_Mutation_p.A163V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A185V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A163V|HNF4A_ENST00000609795.1_Missense_Mutation_p.A163V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	185					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGCATCGCAGATGTGTGT	0.572																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(553-555)gCa>gTa		hepatocyte nuclear factor 4, alpha							113.0	89.0	97.0					20																	43043208		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043208C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.554C>T	20.37:g.43043208C>T	ENSP00000312987:p.Ala185Val					HNF4A_ENST00000415691.1_Missense_Mutation_p.A185V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A163V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A185V	p.A185V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	643	+		Myeloproliferative disorder(115;0.0122)	185					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.554C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633483	0.29068	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12	5.64	4.67	0.58626	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.224053	0.47455	D	0.000225	D	0.92724	0.7687	N	0.25485	0.75	0.23366	N	0.997823	B;B;B;B;B;B;B	0.25007	0.047;0.004;0.002;0.116;0.081;0.038;0.006	B;B;B;B;B;B;B	0.21360	0.021;0.009;0.009;0.02;0.034;0.02;0.007	D	0.85389	0.1124	10	0.54805	T	0.06	.	16.347	0.83138	0.0:0.8678:0.1322:0.0	.	178;185;185;185;163;163;163	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	V	163;163;185;185;215;185	ENSP00000315180:A163V;ENSP00000396216:A163V;ENSP00000312987:A185V;ENSP00000410911:A185V;ENSP00000412111:A185V	ENSP00000312987:A185V	A	+	2	0	HNF4A	42476622	0.198000	0.23374	0.142000	0.22268	0.120000	0.20174	3.202000	0.51067	1.320000	0.45209	0.563000	0.77884	GCA		0.572	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			4	20	0	0	0	1	0	4	20				
ERCC3	2071	broad.mit.edu	37	2	128030530	128030530	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:128030530T>C	ENST00000285398.2	-	11	1832	c.1738A>G	c.(1738-1740)Atc>Gtc	p.I580V	ERCC3_ENST00000493187.2_Missense_Mutation_p.I516V	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	580	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGTCCGTAGATATAGGGTCTA	0.433			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1546-1548)Atc>Gtc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							122.0	110.0	114.0					2																	128030530		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128030530T>C	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1738A>G	2.37:g.128030530T>C	ENSP00000285398:p.Ile580Val					ERCC3_ENST00000285398.2_Missense_Mutation_p.I580V	p.I516V			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	11	2009	-	Colorectal(110;0.1)		580					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1546A>G	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364929	0.82463	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.77358	-1.09;-1.09	5.61	5.61	0.85477	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.67569	2.06	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	D	0.87476	0.2417	10	0.87932	D	0	-30.2132	15.8067	0.78520	0.0:0.0:0.0:1.0	.	580	P19447	ERCC3_HUMAN	V	580;516	ENSP00000285398:I580V;ENSP00000444796:I516V	ENSP00000285398:I580V	I	-	1	0	ERCC3	127747000	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.984000	0.88150	2.131000	0.65755	0.533000	0.62120	ATC		0.433	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		4	32	0	0	0	1	0	4	32				
NALCN	259232	broad.mit.edu	37	13	101717900	101717900	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:101717900G>T	ENST00000251127.6	-	40	4541	c.4460C>A	c.(4459-4461)aCg>aAg	p.T1487K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1487					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GACGCGGAACGTGGGGATCAC	0.517																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4459-4461)aCg>aAg		sodium leak channel, non-selective							75.0	64.0	67.0					13																	101717900		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101717900G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4460C>A	13.37:g.101717900G>T	ENSP00000251127:p.Thr1487Lys						p.T1487K	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			40	4541	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1487					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4460C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595962	0.46318	.	.	ENSG00000102452	ENST00000251127	D	0.97455	-4.39	5.71	5.71	0.89125	.	0.090469	0.85682	D	0.000000	D	0.94301	0.8169	N	0.22421	0.69	0.80722	D	1	B	0.18013	0.025	B	0.19148	0.024	D	0.90113	0.4193	10	0.66056	D	0.02	.	19.8625	0.96789	0.0:0.0:1.0:0.0	.	1487	Q8IZF0	NALCN_HUMAN	K	1487	ENSP00000251127:T1487K	ENSP00000251127:T1487K	T	-	2	0	NALCN	100515901	1.000000	0.71417	0.771000	0.31576	0.465000	0.32709	9.460000	0.97641	2.689000	0.91719	0.655000	0.94253	ACG		0.517	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		6	42	1	0	2.0095e-06	1	2.90366e-06	6	42				
MYO1H	283446	broad.mit.edu	37	12	109882284	109882284	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:109882284A>T	ENST00000431443.2	+	29	2925	c.2925A>T	c.(2923-2925)aaA>aaT	p.K975N	MYO1H_ENST00000310903.5_Missense_Mutation_p.K965N|RP11-256L11.3_ENST00000539987.1_RNA	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	975	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAGTTACTAAACTCGTCATGC	0.428																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2893-2895)aaA>aaT		myosin IH							153.0	143.0	146.0					12																	109882284		1978	4167	6145	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109882284A>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2925A>T	12.37:g.109882284A>T	ENSP00000444076:p.Lys975Asn					MYO1H_ENST00000431443.2_Missense_Mutation_p.K975N	p.K965N			B4DNW6	B4DNW6_HUMAN			30	3001	+			156					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.2895A>T		.	.	.	.	.	.	.	.	.	.	A	20.4	3.982849	0.74474	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.36520	1.25;1.25	5.6	-7.31	0.01441	Myosin tail 2 (1);	.	.	.	.	T	0.60301	0.2258	M	0.86651	2.83	0.36374	D	0.861477	D;D	0.71674	0.998;0.998	D;P	0.69654	0.965;0.901	T	0.75042	-0.3457	9	0.49607	T	0.09	.	19.2507	0.93923	0.2967:0.0:0.7033:0.0	.	975;965	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	N	965;975;156	ENSP00000439182:K965N;ENSP00000444076:K975N	ENSP00000439182:K965N	K	+	3	2	MYO1H	108366667	0.144000	0.22641	0.058000	0.19502	0.822000	0.46500	-0.295000	0.08298	-1.874000	0.01133	-0.250000	0.11733	AAA		0.428	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	34	0	0	0	1	0	4	34				
OR4F6	390648	broad.mit.edu	37	15	102346367	102346367	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:102346367T>C	ENST00000328882.4	+	1	466	c.445T>C	c.(445-447)Tgg>Cgg	p.W149R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGTCATTTCCTGGATTATAGG	0.408																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(445-447)Tgg>Cgg		olfactory receptor, family 4, subfamily F, member 6							234.0	215.0	221.0					15																	102346367		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346367T>C	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.445T>C	15.37:g.102346367T>C	ENSP00000327525:p.Trp149Arg						p.W149R	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	466	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		149					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.445T>C	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	11.58	1.681567	0.29872	.	.	ENSG00000184140	ENST00000328882	T	0.59772	0.24	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	D	0.84593	0.5506	H	0.99011	4.4	0.29525	N	0.853232	D	0.76494	0.999	D	0.76575	0.988	D	0.84953	0.0872	10	0.87932	D	0	.	12.5721	0.56342	0.0:0.0:0.0:1.0	.	149	Q8NGB9	OR4F6_HUMAN	R	149	ENSP00000327525:W149R	ENSP00000327525:W149R	W	+	1	0	OR4F6	100163890	1.000000	0.71417	0.938000	0.37757	0.071000	0.16799	4.313000	0.59160	2.139000	0.66308	0.482000	0.46254	TGG		0.408	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			14	192	0	0	0	1	0	14	192				
PRRC2A	7916	broad.mit.edu	37	6	31595641	31595641	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:31595641G>A	ENST00000376033.2	+	12	1624	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	PRRC2A_ENST00000376007.4_Missense_Mutation_p.V464M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	464	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TTCCCTGGCAGTGGAGCGGGC	0.622																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1390-1392)Gtg>Atg		proline-rich coiled-coil 2A							65.0	77.0	73.0					6																	31595641		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595641G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1390G>A	6.37:g.31595641G>A	ENSP00000365201:p.Val464Met					PRRC2A_ENST00000376007.4_Missense_Mutation_p.V464M	p.V464M	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			12	1624	+			464			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1390G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350312	0.41599	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.14893	2.47;2.47	4.38	4.38	0.52667	.	0.000000	0.44097	D	0.000498	T	0.32224	0.0822	M	0.67397	2.05	0.54753	D	0.999988	D	0.71674	0.998	D	0.81914	0.995	T	0.08889	-1.0700	10	0.87932	D	0	-9.0127	16.2187	0.82244	0.0:0.0:1.0:0.0	.	464	P48634	PRC2A_HUMAN	M	464;453;464;464	ENSP00000365175:V464M;ENSP00000365201:V464M	ENSP00000365175:V464M	V	+	1	0	PRRC2A	31703620	1.000000	0.71417	0.978000	0.43139	0.959000	0.62525	9.050000	0.93843	2.453000	0.82957	0.561000	0.74099	GTG		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		9	59	0	0	0	1	0	9	59				
CXorf21	80231	broad.mit.edu	37	X	30577868	30577868	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:30577868T>C	ENST00000378962.3	-	3	927	c.605A>G	c.(604-606)cAg>cGg	p.Q202R		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	202										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATAGGATTCTGCATTTGCAA	0.408																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(604-606)cAg>cGg		chromosome X open reading frame 21							134.0	121.0	125.0					X																	30577868		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577868T>C	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.605A>G	X.37:g.30577868T>C	ENSP00000368245:p.Gln202Arg						p.Q202R	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	927	-			202						Missense_Mutation	SNP	ENST00000378962.3	37	c.605A>G	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437037	0.62955	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.27	5.27	0.74061	.	0.135257	0.49305	D	0.000143	T	0.58764	0.2145	M	0.62723	1.935	0.34355	D	0.690302	B	0.29590	0.25	B	0.34489	0.184	T	0.70945	-0.4734	9	0.59425	D	0.04	-9.077	14.2561	0.66053	0.0:0.0:0.0:1.0	.	202	Q9HAI6	CX021_HUMAN	R	202	.	ENSP00000368245:Q202R	Q	-	2	0	CXorf21	30487789	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.586000	0.53950	1.942000	0.56320	0.417000	0.27973	CAG		0.408	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		17	37	0	0	0	1	0	17	37				
LHCGR	3973	broad.mit.edu	37	2	48915725	48915725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:48915725G>A	ENST00000294954.7	-	11	1232	c.1211C>T	c.(1210-1212)gCa>gTa	p.A404V	LHCGR_ENST00000405626.1_Missense_Mutation_p.A377V|LHCGR_ENST00000403273.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.A342V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	404					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAAAAGTCTGCAAAGGAGAG	0.458																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1210-1212)gCa>gTa		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						68.0	67.0	68.0					2																	48915725		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915725G>A		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1211C>T	2.37:g.48915725G>A	ENSP00000294954:p.Ala404Val					LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.A342V|LHCGR_ENST00000405626.1_Missense_Mutation_p.A377V|STON1-GTF2A1L_ENST00000402114.2_Intron	p.A404V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1232	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	404					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1211C>T	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806994	0.90623	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.85955	-2.05;-2.05;-2.05	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	H	0.96015	3.755	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96154	0.9110	9	.	.	.	.	19.2938	0.94114	0.0:0.0:1.0:0.0	.	404	P22888	LSHR_HUMAN	V	342;404;377	ENSP00000344301:A342V;ENSP00000294954:A404V;ENSP00000386033:A377V	.	A	-	2	0	LHCGR	48769229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.791000	0.96007	0.655000	0.94253	GCA		0.458	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		6	50	0	0	0	1	0	6	50				
INSR	3643	broad.mit.edu	37	19	7120746	7120746	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:7120746T>C	ENST00000302850.5	-	20	3686	c.3544A>G	c.(3544-3546)Aga>Gga	p.R1182G	INSR_ENST00000341500.5_Missense_Mutation_p.R1170G	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TAGATGTCTCTGGTCATTCCA	0.542																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3508-3510)Aga>Gga		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						134.0	110.0	118.0					19																	7120746		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7120746T>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3544A>G	19.37:g.7120746T>C	ENSP00000303830:p.Arg1182Gly					INSR_ENST00000302850.5_Missense_Mutation_p.R1182G	p.R1170G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			19	3547	-			1182			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3508A>G	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632539	0.67015	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.85171	-1.95;-1.95	4.52	4.52	0.55395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	U	0.000263	D	0.93164	0.7823	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93579	0.6911	10	0.87932	D	0	.	8.5736	0.33585	0.0:0.0:0.1949:0.8051	.	1170;1182	P06213-2;P06213	.;INSR_HUMAN	G	1182;1170	ENSP00000303830:R1182G;ENSP00000342838:R1170G	ENSP00000303830:R1182G	R	-	1	2	INSR	7071746	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.584000	0.46102	1.818000	0.53035	0.369000	0.22263	AGA		0.542	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			8	65	0	0	0	1	0	8	65				
TRIM51	84767	broad.mit.edu	37	11	55653619	55653619	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55653619G>C	ENST00000449290.2	+	3	524	c.432G>C	c.(430-432)atG>atC	p.M144I	TRIM51_ENST00000244891.3_Start_Codon_SNP_p.M1I	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	144						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TAAAAAAAATGCAGTCTTTAT	0.403																																						ENST00000449290.2																			0											c.(430-432)atG>atC		tripartite motif-containing 51							52.0	54.0	53.0					11																	55653619		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653619G>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.432G>C	11.37:g.55653619G>C	ENSP00000395086:p.Met144Ile					TRIM51_ENST00000244891.3_Start_Codon_SNP_p.M1I	p.M144I	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			3	524	+			144					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.432G>C		.	.	.	.	.	.	.	.	.	.	.	5.522	0.281287	0.10458	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.55052	0.54;0.68	.	.	.	.	.	.	.	.	T	0.55800	0.1943	M	0.77616	2.38	0.80722	D	1	B	0.33512	0.415	B	0.39935	0.314	T	0.57728	-0.7761	7	0.52906	T	0.07	.	.	.	.	.	144	Q9BSJ1	SPRY5_HUMAN	I	144;1	ENSP00000395086:M144I;ENSP00000244891:M1I	ENSP00000244891:M1I	M	+	3	0	SPRYD5	55410195	0.007000	0.16637	0.028000	0.17463	0.112000	0.19704	1.062000	0.30555	0.495000	0.27882	0.152000	0.16155	ATG		0.403	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	22	0	0	0	1	0	5	22				
SLC17A8	246213	broad.mit.edu	37	12	100797818	100797818	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:100797818G>T	ENST00000323346.5	+	9	1369	c.1056G>T	c.(1054-1056)gtG>gtT	p.V352V	SLC17A8_ENST00000392989.3_Silent_p.V302V|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	352					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCTTCCAGGTGGGTCTCTTGT	0.463																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1054-1056)gtG>gtT		solute carrier family 17 (vesicular glutamate transporter), member 8							106.0	107.0	107.0					12																	100797818		2203	4300	6503	SO:0001819	synonymous_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797818G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1056G>T	12.37:g.100797818G>T						SLC17A8_ENST00000392989.3_Silent_p.V302V	p.V352V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			9	1369	+			352					B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.1056G>T	CCDS9077.1																																																																																				0.463	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		5	38	1	0	0.014758	1	0.0159185	5	38				
DOCK1	1793	broad.mit.edu	37	10	128829949	128829949	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:128829949T>C	ENST00000280333.6	+	17	1706	c.1597T>C	c.(1597-1599)Ttt>Ctt	p.F533L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	533	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCACTAGCATTTGTCAAGCT	0.353																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(1597-1599)Ttt>Ctt		dedicator of cytokinesis 1							164.0	163.0	163.0					10																	128829949		1902	4115	6017	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128829949T>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1597T>C	10.37:g.128829949T>C	ENSP00000280333:p.Phe533Leu						p.F533L	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	17	1706	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	533			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1597T>C		.	.	.	.	.	.	.	.	.	.	T	27.1	4.796590	0.90453	.	.	ENSG00000150760	ENST00000280333	T	0.15256	2.44	4.11	4.11	0.48088	.	0.058357	0.64402	D	0.000001	T	0.49830	0.1580	M	0.92219	3.285	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.962	T	0.63726	-0.6572	10	0.72032	D	0.01	.	14.1643	0.65466	0.0:0.0:0.0:1.0	.	533;533	B2RUU3;Q14185	.;DOCK1_HUMAN	L	533	ENSP00000280333:F533L	ENSP00000280333:F533L	F	+	1	0	DOCK1	128719939	1.000000	0.71417	0.810000	0.32431	0.943000	0.58893	7.819000	0.86621	2.074000	0.62210	0.533000	0.62120	TTT		0.353	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		16	47	0	0	0	1	0	16	47				
RP11-44F14.1	0	broad.mit.edu	37	16	53404855	53404855	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:53404855C>T	ENST00000565421.1	-	0	186																											CTCAAATTTGCTTGAGTTTCT	0.453																																						ENST00000565421.1																			0																																																			0							g.chr16:53404855C>T																													16.37:g.53404855C>T														0	186	-									RNA	SNP	ENST00000565421.1	37																																																																																						0.453	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			4	26	0	0	0	1	0	4	26				
LRRC7	57554	broad.mit.edu	37	1	70504981	70504981	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:70504981G>A	ENST00000035383.5	+	19	3390	c.3360G>A	c.(3358-3360)gtG>gtA	p.V1120V	LRRC7_ENST00000310961.5_Silent_p.V1125V|LRRC7_ENST00000415775.2_Silent_p.V404V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1120						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACTCCCTGGTGAGCGCCACAG	0.577																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3373-3375)gtG>gtA		leucine rich repeat containing 7							79.0	83.0	82.0					1																	70504981		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504981G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3360G>A	1.37:g.70504981G>A						LRRC7_ENST00000415775.2_Silent_p.V404V|LRRC7_ENST00000035383.5_Silent_p.V1120V	p.V1125V			Q96NW7	LRRC7_HUMAN			22	3793	+			1120					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3375G>A	CCDS645.1																																																																																				0.577	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		13	86	0	0	0	1	0	13	86				
DNM1P47	100216544	broad.mit.edu	37	15	102312119	102312119	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:102312119C>A	ENST00000561463.1	+	0	13487				RN7SL209P_ENST00000488309.2_RNA					DNM1 pseudogene 47																		CCTCCCCTGCCCCTGCCTGCC	0.627																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102312119C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102312119C>A														0	13487	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.627	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	48	1	0	1.06961e-07	1	1.64929e-07	8	48				
KCNT2	343450	broad.mit.edu	37	1	196303149	196303149	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196303149C>A	ENST00000294725.9	-	17	2740	c.1825G>T	c.(1825-1827)Gca>Tca	p.A609S	KCNT2_ENST00000609185.1_Missense_Mutation_p.A559S|KCNT2_ENST00000367433.5_Missense_Mutation_p.A609S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.A559S|KCNT2_ENST00000451324.2_Missense_Mutation_p.A220S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	609					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGCCACTTGCTGATCTACAG	0.403																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1825-1827)Gca>Tca		potassium channel, subfamily T, member 2							104.0	93.0	97.0					1																	196303149		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196303149C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1825G>T	1.37:g.196303149C>A	ENSP00000294725:p.Ala609Ser					KCNT2_ENST00000367431.4_Missense_Mutation_p.A559S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.A220S|KCNT2_ENST00000294725.8_Missense_Mutation_p.A609S	p.A609S			Q6UVM3	KCNT2_HUMAN			17	1926	-			609					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1825G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	4.700	0.130150	0.08981	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.29142	2.31;2.32;1.58;2.57	4.67	1.17	0.20885	.	0.680401	0.13485	N	0.384382	T	0.07503	0.0189	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.001;0.001	T	0.32348	-0.9910	10	0.05436	T	0.98	-0.0633	1.0067	0.01488	0.2182:0.3785:0.1155:0.2878	.	609;591;609;559;609	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	609;559;430;220;609	ENSP00000356403:A609S;ENSP00000356401:A559S;ENSP00000405474:A220S;ENSP00000294725:A609S	ENSP00000294725:A609S	A	-	1	0	KCNT2	194569772	0.087000	0.21565	0.874000	0.34290	0.989000	0.77384	0.347000	0.20014	0.035000	0.15519	0.655000	0.94253	GCA		0.403	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		6	15	1	0	0.00116845	1	0.00137844	6	15				
KL	9365	broad.mit.edu	37	13	33638153	33638153	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:33638153G>A	ENST00000380099.3	+	5	2877	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	957					acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCGGGCCCAGAAACTCTGGA	0.428																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2869-2871)Gaa>Aaa		klotho							115.0	115.0	115.0					13																	33638153		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638153G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2869G>A	13.37:g.33638153G>A	ENSP00000369442:p.Glu957Lys					KL_ENST00000487852.1_3'UTR	p.E957K	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2877	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	957					Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2869G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	0.483	-0.879168	0.02550	.	.	ENSG00000133116	ENST00000380099	T	0.21191	2.02	5.52	2.89	0.33648	Glycoside hydrolase, superfamily (1);	0.407250	0.29152	N	0.013000	T	0.14399	0.0348	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36138	-0.9760	10	0.07030	T	0.85	-1.2225	10.8309	0.46659	0.2035:0.0:0.7965:0.0	.	957	Q9UEF7	KLOT_HUMAN	K	957	ENSP00000369442:E957K	ENSP00000369442:E957K	E	+	1	0	KL	32536153	0.868000	0.29978	0.000000	0.03702	0.074000	0.17049	3.540000	0.53611	0.309000	0.22966	0.655000	0.94253	GAA		0.428	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			12	68	0	0	0	1	0	12	68				
PCDHB8	56128	broad.mit.edu	37	5	140559491	140559491	+	Missense_Mutation	SNP	C	C	G	rs565807496		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140559491C>G	ENST00000239444.2	+	1	2121	c.1876C>G	c.(1876-1878)Cgc>Ggc	p.R626G	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	626	Cadherin 6. {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(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.701																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1876-1878)Cgc>Ggc									16.0	19.0	18.0					5																	140559491		1944	3888	5832	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559491C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1876C>G	5.37:g.140559491C>G	ENSP00000239444:p.Arg626Gly						p.R626G	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2121	+			626			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1876C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703385	0.48412	.	.	ENSG00000120322	ENST00000239444	T	0.52983	0.64	4.22	3.1	0.35709	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72676	0.3490	H	0.94183	3.505	0.24798	N	0.992717	D	0.69078	0.997	D	0.74023	0.982	T	0.62158	-0.6913	9	0.87932	D	0	.	6.769	0.23583	0.2893:0.6085:0.0:0.1021	.	626	Q9UN66	PCDB8_HUMAN	G	626	ENSP00000239444:R626G	ENSP00000239444:R626G	R	+	1	0	PCDHB8	140539675	0.022000	0.18835	1.000000	0.80357	0.860000	0.49131	1.081000	0.30791	1.915000	0.55452	0.298000	0.19748	CGC		0.701	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		12	45	0	0	0	1	0	12	45				
COL21A1	81578	broad.mit.edu	37	6	56006615	56006615	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:56006615A>C	ENST00000244728.5	-	12	1907	c.1510T>G	c.(1510-1512)Tac>Gac	p.Y504D	COL21A1_ENST00000370819.1_Missense_Mutation_p.Y501D|COL21A1_ENST00000535941.1_Missense_Mutation_p.Y504D	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	504	Collagen-like 2.				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(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCCTTTGTAACCTGGTAGT	0.343																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1510-1512)Tac>Gac		collagen, type XXI, alpha 1							158.0	142.0	147.0					6																	56006615		1890	4123	6013	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56006615A>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1510T>G	6.37:g.56006615A>C	ENSP00000244728:p.Tyr504Asp					COL21A1_ENST00000370819.1_Missense_Mutation_p.Y501D|COL21A1_ENST00000535941.1_Missense_Mutation_p.Y504D	p.Y504D	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		12	1907	-	Lung NSC(77;0.0483)		504			Collagen-like 1.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1510T>G	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747660	0.30955	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.83419	-1.72;-1.72;-1.72	5.15	5.15	0.70609	.	0.588174	0.14884	N	0.292783	T	0.49047	0.1534	N	0.01656	-0.775	0.80722	D	1	B;P	0.43607	0.071;0.812	B;P	0.45167	0.029;0.472	T	0.56625	-0.7948	10	0.13108	T	0.6	.	11.667	0.51379	1.0:0.0:0.0:0.0	.	501;504	Q96P44-3;Q96P44	.;COLA1_HUMAN	D	504;501;504;501	ENSP00000244728:Y504D;ENSP00000359855:Y501D;ENSP00000444384:Y504D	ENSP00000244728:Y504D	Y	-	1	0	COL21A1	56114574	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.535000	0.45685	2.074000	0.62210	0.533000	0.62120	TAC		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			5	33	0	0	0	1	0	5	33				
CTIF	9811	broad.mit.edu	37	18	46287933	46287933	+	Missense_Mutation	SNP	G	G	C	rs367568700		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:46287933G>C	ENST00000256413.3	+	9	1539	c.1244G>C	c.(1243-1245)cGc>cCc	p.R415P	CTIF_ENST00000382998.4_Missense_Mutation_p.R417P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	415	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.R415P(1)|p.R415L(1)|p.R367P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAGATCGTGCGCACAATCTAC	0.592																																						ENST00000256413.3																			3	Substitution - Missense(3)	p.R415P(1)|p.R415L(1)|p.R367P(1)	lung(2)|upper_aerodigestive_tract(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1243-1245)cGc>cCc		CBP80/20-dependent translation initiation factor							152.0	102.0	119.0					18																	46287933		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46287933G>C	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1244G>C	18.37:g.46287933G>C	ENSP00000256413:p.Arg415Pro					CTIF_ENST00000382998.4_Missense_Mutation_p.R417P	p.R415P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			9	1539	+			415			MIF4G.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1244G>C	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889679	0.72524	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.23950	1.88;1.88	5.75	4.88	0.63580	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.327936	0.34046	N	0.004319	T	0.23965	0.0580	L	0.38175	1.15	0.36707	D	0.880455	P;P	0.42456	0.74;0.78	B;P	0.46917	0.396;0.531	T	0.09164	-1.0687	10	0.51188	T	0.08	-17.1063	5.8412	0.18635	0.258:0.0:0.742:0.0	.	417;415	O43310-2;O43310	.;CTIF_HUMAN	P	415;417;367	ENSP00000256413:R415P;ENSP00000372459:R417P	ENSP00000256413:R415P	R	+	2	0	CTIF	44541931	0.980000	0.34600	0.997000	0.53966	0.993000	0.82548	3.271000	0.51608	2.716000	0.92895	0.655000	0.94253	CGC		0.592	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		5	36	0	0	0	1	0	5	36				
ANKFN1	162282	broad.mit.edu	37	17	54428209	54428209	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:54428209A>G	ENST00000318698.2	+	4	315	c.280A>G	c.(280-282)Aac>Gac	p.N94D	ANKFN1_ENST00000566473.2_Missense_Mutation_p.N94D	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	94										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCATCTCCCAACGCAGCCAA	0.453																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(280-282)Aac>Gac		ankyrin-repeat and fibronectin type III domain containing 1							95.0	94.0	94.0					17																	54428209		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54428209A>G	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.280A>G	17.37:g.54428209A>G	ENSP00000321627:p.Asn94Asp					ANKFN1_ENST00000318698.2_Missense_Mutation_p.N94D	p.N94D			Q8N957	ANKF1_HUMAN			4	280	+			94						Missense_Mutation	SNP	ENST00000318698.2	37	c.280A>G	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889833	0.91889	.	.	ENSG00000153930	ENST00000318698	T	0.23552	1.9	5.84	5.84	0.93424	.	0.039428	0.85682	D	0.000000	T	0.29321	0.0730	L	0.53249	1.67	0.43617	D	0.99599	B	0.21821	0.061	B	0.20577	0.03	T	0.03443	-1.1036	10	0.62326	D	0.03	.	16.2167	0.82231	1.0:0.0:0.0:0.0	.	94	Q8N957	ANKF1_HUMAN	D	94	ENSP00000321627:N94D	ENSP00000321627:N94D	N	+	1	0	ANKFN1	51783208	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.339000	0.96797	2.231000	0.72958	0.533000	0.62120	AAC		0.453	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		6	38	0	0	0	1	0	6	38				
PKNOX2	63876	broad.mit.edu	37	11	125299947	125299947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:125299947C>T	ENST00000298282.9	+	12	1373	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q304*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	368					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GATCAAGTCTCAGCACCGGCC	0.617																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1102-1104)Cag>Tag		PBX/knotted 1 homeobox 2							92.0	103.0	100.0					11																	125299947		1999	4169	6168	SO:0001587	stop_gained	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125299947C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1102C>T	11.37:g.125299947C>T	ENSP00000298282:p.Gln368*					PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q304*	p.Q368*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1373	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	368					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Nonsense_Mutation	SNP	ENST00000298282.9	37	c.1102C>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	C	37	6.536948	0.97646	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	.	.	.	4.82	4.82	0.62117	.	0.056241	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-9.1003	18.252	0.90006	0.0:1.0:0.0:0.0	.	.	.	.	X	339;339;368;304	.	ENSP00000298282:Q368X	Q	+	1	0	PKNOX2	124805157	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	5.956000	0.70315	2.399000	0.81585	0.462000	0.41574	CAG		0.617	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			6	81	0	0	0	1	0	6	81				
LOC101927079	101927079	broad.mit.edu	37	15	22332452	22332452	+	RNA	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:22332452T>A	ENST00000558896.1	+	0	259																											CTTGTTCTTCTGGGCCTATCA	0.358																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332452T>A																													15.37:g.22332452T>A														0	259	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.358	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			10	142	0	0	0	1	0	10	142				
DENND2C	163259	broad.mit.edu	37	1	115167942	115167942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:115167942C>T	ENST00000393274.1	-	4	1289	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.E222K|DENND2C_ENST00000393276.3_Missense_Mutation_p.E222K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	222					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACCAGATTCGGATAAATAT	0.393																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(664-666)Gaa>Aaa		DENN/MADD domain containing 2C							95.0	94.0	94.0					1																	115167942		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115167942C>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.664G>A	1.37:g.115167942C>T	ENSP00000376955:p.Glu222Lys					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.E222K|DENND2C_ENST00000393276.3_Missense_Mutation_p.E222K	p.E222K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1289	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	222					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.664G>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752846	0.69648	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.09350	3.48;3.63;2.99	5.2	5.2	0.72013	.	0.349867	0.27354	N	0.019750	T	0.20414	0.0491	L	0.52759	1.655	0.50813	D	0.999892	D;D	0.76494	0.999;0.999	D;D	0.68621	0.91;0.959	T	0.00824	-1.1551	10	0.59425	D	0.04	.	18.7181	0.91684	0.0:1.0:0.0:0.0	.	222;222	Q68D51;Q68D51-3	DEN2C_HUMAN;.	K	222	ENSP00000376957:E222K;ENSP00000376955:E222K;ENSP00000376958:E222K	ENSP00000358553:E222K	E	-	1	0	DENND2C	114969465	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.333000	0.65917	2.440000	0.82611	0.585000	0.79938	GAA		0.393	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		9	49	0	0	0	1	0	9	49				
GLYR1	84656	broad.mit.edu	37	16	4873864	4873864	+	Silent	SNP	G	G	A	rs372325257		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:4873864G>A	ENST00000321919.9	-	6	658	c.582C>T	c.(580-582)gcC>gcT	p.A194A	GLYR1_ENST00000436648.5_Silent_p.A113A|GLYR1_ENST00000591451.1_Silent_p.A194A|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Silent_p.A194A	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	194					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCATCGGTCCGGCCATCATCC	0.557																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(580-582)gcC>gcT		glyoxylate reductase 1 homolog (Arabidopsis)		G		1,4393	2.1+/-5.4	0,1,2196	144.0	137.0	140.0		582	-10.9	0.4	16		140	0,8600		0,0,4300	no	coding-synonymous	GLYR1	NM_032569.3		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		194/554	4873864	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4873864G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.582C>T	16.37:g.4873864G>A						GLYR1_ENST00000436648.5_Silent_p.A113A|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Silent_p.A194A|GLYR1_ENST00000591451.1_Silent_p.A194A	p.A194A	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			6	658	-			194					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Silent	SNP	ENST00000321919.9	37	c.582C>T	CCDS10524.1																																																																																				0.557	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		30	58	0	0	0	1	0	30	58				
KLHL1	57626	broad.mit.edu	37	13	70549780	70549780	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:70549780C>A	ENST00000377844.4	-	2	1411	c.652G>T	c.(652-654)Gtt>Ttt	p.V218F	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	218	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGGTTCCCAACAATCAGGATA	0.418																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(652-654)Gtt>Ttt		kelch-like family member 1							170.0	155.0	160.0					13																	70549780		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70549780C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.652G>T	13.37:g.70549780C>A	ENSP00000367075:p.Val218Phe					KLHL1_ENST00000545028.1_Intron	p.V218F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	2	1411	-		Breast(118;0.000162)	218			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.652G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899811	0.72754	.	.	ENSG00000150361	ENST00000377844	T	0.77358	-1.09	5.98	5.98	0.97165	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.099837	0.43919	D	0.000503	T	0.79890	0.4524	M	0.70842	2.15	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.75039	-0.3458	10	0.87932	D	0	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	218	Q9NR64	KLHL1_HUMAN	F	218	ENSP00000367075:V218F	ENSP00000367075:V218F	V	-	1	0	KLHL1	69447781	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.197000	0.77814	2.838000	0.97847	0.591000	0.81541	GTT		0.418	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		9	53	1	0	0.00448238	1	0.00513629	9	53				
MTMR12	54545	broad.mit.edu	37	5	32243655	32243655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:32243655C>A	ENST00000382142.3	-	11	1242	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*	MTMR12_ENST00000280285.5_Nonsense_Mutation_p.E358*|MTMR12_ENST00000264934.5_Nonsense_Mutation_p.E358*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	358	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTGCTACTTTCCAACAGAGAA	0.343																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1072-1074)Gaa>Taa		myotubularin related protein 12							107.0	108.0	108.0					5																	32243655		2203	4300	6503	SO:0001587	stop_gained	54545					cytoplasm	phosphatase activity	g.chr5:32243655C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1072G>T	5.37:g.32243655C>A	ENSP00000371577:p.Glu358*					MTMR12_ENST00000264934.5_Nonsense_Mutation_p.E358*|MTMR12_ENST00000280285.5_Nonsense_Mutation_p.E358*	p.E358*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			11	1242	-			358			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Nonsense_Mutation	SNP	ENST00000382142.3	37	c.1072G>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	38	6.647589	0.97730	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	.	.	.	5.91	5.91	0.95273	.	0.053784	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	358	.	ENSP00000264934:E358X	E	-	1	0	MTMR12	32279412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.214000	0.72200	2.793000	0.96121	0.655000	0.94253	GAA		0.343	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		7	34	1	0	2.0095e-06	1	2.90366e-06	7	34				
CDR1	1038	broad.mit.edu	37	X	139865977	139865977	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:139865977C>A	ENST00000370532.2	-	1	746	c.555G>T	c.(553-555)tgG>tgT	p.W185C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	185	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCATGTCTTCCAGAAAATCC	0.443																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(553-555)tgG>tgT		cerebellar degeneration-related protein 1, 34kDa							141.0	140.0	140.0					X																	139865977		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865977C>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.555G>T	X.37:g.139865977C>A	ENSP00000359563:p.Trp185Cys						p.W185C	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	746	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	185			5 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.555G>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429810	0.62844	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	T	0.49660	0.1570	N	0.08118	0	0.52501	D	0.999956	D	0.76494	0.999	D	0.66847	0.947	T	0.51092	-0.8749	7	.	.	.	.	14.1969	0.65677	0.0:1.0:0.0:0.0	.	185	P51861	CDR1_HUMAN	C	185	.	.	W	-	3	0	CDR1	139693643	0.059000	0.20769	0.922000	0.36590	0.675000	0.39556	0.923000	0.28757	2.145000	0.66743	0.409000	0.27619	TGG		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		27	95	1	0	7.92952e-12	1	1.32255e-11	27	95				
AKR1B15	441282	broad.mit.edu	37	7	134254248	134254248	+	Missense_Mutation	SNP	C	C	A	rs373050905	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:134254248C>A	ENST00000457545.2	+	5	662	c.402C>A	c.(400-402)gaC>gaA	p.D134E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D106E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	134							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCTATCTGGACGTCTATCTTA	0.502																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(400-402)gaC>gaA		aldo-keto reductase family 1, member B15							135.0	130.0	131.0					7																	134254248		2203	4300	6503	SO:0001583	missense	441282						oxidoreductase activity	g.chr7:134254248C>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.402C>A	7.37:g.134254248C>A	ENSP00000389289:p.Asp134Glu					AKR1B15_ENST00000423958.1_Missense_Mutation_p.D106E	p.D134E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN			5	662	+			134					C9J3V2	Missense_Mutation	SNP	ENST00000457545.2	37	c.402C>A	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	11.43	1.637018	0.29157	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.60548	0.18;0.18	2.72	1.82	0.25136	NADP-dependent oxidoreductase domain (3);	.	.	.	.	D	0.82582	0.5068	H	0.98786	4.33	0.45427	D	0.998405	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.996;0.998	T	0.82102	-0.0623	9	0.87932	D	0	.	7.5313	0.27685	0.0:0.8585:0.0:0.1415	.	106;134;112	C9JRZ8-2;C9JRZ8;A4D1P0	.;AK1BF_HUMAN;.	E	134;106	ENSP00000389289:D134E;ENSP00000397009:D106E	ENSP00000397009:D106E	D	+	3	2	AKR1B15	133904788	0.113000	0.22115	0.470000	0.27216	0.011000	0.07611	-0.059000	0.11731	0.465000	0.27167	-0.491000	0.04670	GAC		0.502	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			7	72	1	0	8.12818e-05	1	0.000104036	7	72				
ENAM	10117	broad.mit.edu	37	4	71507981	71507981	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:71507981G>T	ENST00000396073.3	+	9	1119	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	280					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACTAAACACTGGGAACAACCC	0.532																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(838-840)Ggg>Tgg		enamelin							80.0	73.0	75.0					4																	71507981		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71507981G>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.838G>T	4.37:g.71507981G>T	ENSP00000379383:p.Gly280Trp					ENAM_ENST00000472903.1_Intron	p.G280W	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1119	+			280					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.838G>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075377	0.36662	.	.	ENSG00000132464	ENST00000396073	T	0.37584	1.19	5.93	5.93	0.95920	.	0.446304	0.19178	N	0.120741	T	0.56046	0.1959	L	0.57536	1.79	0.19775	N	0.999951	D	0.71674	0.998	D	0.66497	0.944	T	0.51576	-0.8688	10	0.72032	D	0.01	0.4677	15.854	0.78960	0.0:0.0:1.0:0.0	.	280	Q9NRM1	ENAM_HUMAN	W	280	ENSP00000379383:G280W	ENSP00000379383:G280W	G	+	1	0	ENAM	71726845	0.893000	0.30496	0.055000	0.19348	0.007000	0.05969	2.176000	0.42500	2.826000	0.97356	0.655000	0.94253	GGG		0.532	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		6	58	1	0	0.00116845	1	0.00137844	6	58				
CDC26	246184	broad.mit.edu	37	9	116029554	116029554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:116029554G>A	ENST00000374206.3	-	4	605	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	CDC26_ENST00000490408.1_Intron	NM_139286.3	NP_644815.1	Q8NHZ8	CDC26_HUMAN	cell division cycle 26	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)											TAAAATTCAAGACTTCCAAAT	0.418																																						ENST00000374206.3																			0											c.(247-249)Ctt>Ttt		cell division cycle 26							24.0	25.0	24.0					9																	116029554		2145	4236	6381	SO:0001583	missense	246184				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr9:116029554G>A	AF503918	CCDS6790.1	9q32	2013-01-17	2013-01-17	2003-11-26	ENSG00000176386	ENSG00000176386		"""Anaphase promoting complex subunits"""	17839	protein-coding gene	gene with protein product	"""CDC26 subunit of anaphase promoting complex"", ""anaphase promoting complex subunit 12"""	614533	"""chromosome 9 open reading frame 17"", ""cell division cycle 26"", ""cell division cycle 26 homolog (S. cerevisiae)"""	C9orf17		8895471, 10922056	Standard	NM_139286		Approved	APC12, ANAPC12	uc004bgw.2	Q8NHZ8	OTTHUMG00000020521	ENST00000374206.3:c.247C>T	9.37:g.116029554G>A	ENSP00000363322:p.Leu83Phe					CDC26_ENST00000490408.1_Intron	p.L83F	NM_139286.3	NP_644815.1	Q8NHZ8	CDC26_HUMAN			4	605	-			83						Missense_Mutation	SNP	ENST00000374206.3	37	c.247C>T	CCDS6790.1	.	.	.	.	.	.	.	.	.	.	G	4.996	0.185018	0.09495	.	.	ENSG00000176386	ENST00000374206	.	.	.	5.53	4.4	0.53042	.	0.132020	0.56097	N	0.000034	T	0.26231	0.0640	.	.	.	0.31906	N	0.615315	B	0.02656	0.0	B	0.01281	0.0	T	0.24764	-1.0151	8	0.08599	T	0.76	-6.3849	10.0166	0.42018	0.9182:0.0:0.0818:0.0	.	83	Q8NHZ8	CDC26_HUMAN	F	83	.	ENSP00000363322:L83F	L	-	1	0	CDC26	115069375	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	3.427000	0.52785	1.052000	0.40392	-0.471000	0.05019	CTT		0.418	CDC26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053723.1	NM_139286		9	61	0	0	0	1	0	9	61				
STYK1	55359	broad.mit.edu	37	12	10787181	10787181	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:10787181T>G	ENST00000075503.3	-	3	557	c.37A>C	c.(37-39)Agt>Cgt	p.S13R		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTTGTCACTGAGACTGCAT	0.493										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(37-39)Agt>Cgt		serine/threonine/tyrosine kinase 1							159.0	126.0	137.0					12																	10787181		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10787181T>G	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.37A>C	12.37:g.10787181T>G	ENSP00000075503:p.Ser13Arg	HNSCC(73;0.22)					p.S13R	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			3	557	-			13					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.37A>C	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676236	0.29783	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867;ENST00000535345;ENST00000541561	T;T;T	0.78816	-1.21;0.81;0.8	5.55	4.41	0.53225	.	0.230714	0.39834	N	0.001258	T	0.70290	0.3207	L	0.60455	1.87	0.32261	N	0.570176	B	0.27380	0.177	B	0.23852	0.049	T	0.74478	-0.3652	10	0.52906	T	0.07	-4.7272	7.3985	0.26950	0.0:0.0958:0.0:0.9042	.	13	Q6J9G0	STYK1_HUMAN	R	13	ENSP00000075503:S13R;ENSP00000446241:S13R;ENSP00000445391:S13R	ENSP00000075503:S13R	S	-	1	0	STYK1	10678448	0.991000	0.36638	1.000000	0.80357	0.310000	0.27922	2.258000	0.43249	2.107000	0.64212	0.402000	0.26972	AGT		0.493	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		6	38	0	0	0	1	0	6	38				
HTR2A	3356	broad.mit.edu	37	13	47409465	47409465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:47409465C>G	ENST00000378688.4	-	3	1054	c.923G>C	c.(922-924)gGc>gCc	p.G308A	HTR2A_ENST00000543956.1_Missense_Mutation_p.G224A|HTR2A_ENST00000542664.1_Missense_Mutation_p.G308A			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	308					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTCCTCCTGCCTGTGTAGGA	0.517																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(922-924)gGc>gCc		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						123.0	99.0	107.0					13																	47409465		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409465C>G	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.923G>C	13.37:g.47409465C>G	ENSP00000367959:p.Gly308Ala					HTR2A_ENST00000543956.1_Missense_Mutation_p.G224A|HTR2A_ENST00000542664.1_Missense_Mutation_p.G308A	p.G308A			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1054	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	308					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.923G>C	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579085	0.65878	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.40225	1.04;1.04;1.04	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000263	T	0.55226	0.1907	M	0.62723	1.935	0.80722	D	1	D;D	0.54964	0.969;0.961	P;P	0.56648	0.757;0.803	T	0.41124	-0.9526	10	0.09843	T	0.71	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	224;308	F5GWE8;P28223	.;5HT2A_HUMAN	A	308;224;308	ENSP00000367959:G308A;ENSP00000441861:G224A;ENSP00000437737:G308A	ENSP00000367959:G308A	G	-	2	0	HTR2A	46307466	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.020000	0.70826	2.941000	0.99782	0.655000	0.94253	GGC		0.517	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		11	33	0	0	0	1	0	11	33				
GRIN2B	2904	broad.mit.edu	37	12	13906601	13906601	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:13906601G>T	ENST00000609686.1	-	3	869	c.660C>A	c.(658-660)ctC>ctA	p.L220L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	220					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAGTTTCTTGAGCTGATTCT	0.493																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(658-660)ctC>ctA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						147.0	147.0	147.0					12																	13906601		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906601G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.660C>A	12.37:g.13906601G>T							p.L220L	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			3	869	-			220					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.660C>A	CCDS8662.1																																																																																				0.493	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	73	1	0	2.0095e-06	1	2.90366e-06	7	73				
TXNDC5	81567	broad.mit.edu	37	6	7884682	7884682	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:7884682T>C	ENST00000379757.4	-	9	1123	c.1086A>G	c.(1084-1086)gaA>gaG	p.E362E	TXNDC5_ENST00000473453.1_Silent_p.E254E|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Silent_p.E290E	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	362	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTTTAGAGAGTTCCTCCCAAG	0.493																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			0											c.(868-870)gaA>gaG									96.0	86.0	89.0					6																	7884682		2203	4300	6503	SO:0001819	synonymous_variant	100526836							g.chr6:7884682T>C	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1086A>G	6.37:g.7884682T>C						TXNDC5_ENST00000379757.4_Silent_p.E362E|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.E254E|TXNDC5_ENST00000473453.1_Silent_p.E254E	p.E290E							9	869	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	c.870A>G	CCDS4505.1																																																																																				0.493	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		6	28	0	0	0	1	0	6	28				
KRT83	3889	broad.mit.edu	37	12	52710790	52710790	+	Silent	SNP	T	T	C	rs143202217		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52710790T>C	ENST00000293670.3	-	5	830	c.768A>G	c.(766-768)caA>caG	p.Q256Q		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	256	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGATGTGGGATTGGAGAATGC	0.522													t|||	1	0.000199681	0.0008	0.0	5008	,	,		20341	0.0		0.0	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(766-768)caA>caG		keratin 83		T		29,4377	35.2+/-66.4	0,29,2174	141.0	123.0	129.0		768	-7.8	0.0	12	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	KRT83	NM_002282.3		0,29,6474	CC,CT,TT		0.0,0.6582,0.223		256/494	52710790	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710790T>C	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.768A>G	12.37:g.52710790T>C							p.Q256Q	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	830	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		256			Coil 1B.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	c.768A>G	CCDS8823.1																																																																																				0.522	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		8	64	0	0	0	1	0	8	64				
GRIK5	2901	broad.mit.edu	37	19	42566966	42566966	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42566966G>T	ENST00000262895.3	-	3	285	c.286C>A	c.(286-288)Ccc>Acc	p.P96T	GRIK5_ENST00000593562.1_Missense_Mutation_p.P96T|GRIK5_ENST00000301218.4_Missense_Mutation_p.P96T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	96					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CTAGAGGAGGGCCCAAGGACA	0.627																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(286-288)Ccc>Acc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						113.0	92.0	99.0					19																	42566966		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42566966G>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.286C>A	19.37:g.42566966G>T	ENSP00000262895:p.Pro96Thr					GRIK5_ENST00000593562.1_Missense_Mutation_p.P96T|GRIK5_ENST00000301218.4_Missense_Mutation_p.P96T	p.P96T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			3	285	-		Prostate(69;0.059)	96					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.286C>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987482	0.93106	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.37235	1.21;1.21	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.191206	0.45867	D	0.000332	T	0.63931	0.2553	M	0.79475	2.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.66548	-0.5896	10	0.87932	D	0	.	18.6332	0.91368	0.0:0.0:1.0:0.0	.	96	Q16478	GRIK5_HUMAN	T	96	ENSP00000262895:P96T;ENSP00000301218:P96T	ENSP00000262895:P96T	P	-	1	0	GRIK5	47258806	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.249000	0.95470	2.713000	0.92767	0.643000	0.83706	CCC		0.627	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			6	33	1	0	0.00116845	1	0.00137844	6	33				
LOXL3	84695	broad.mit.edu	37	2	74761258	74761258	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:74761258G>T	ENST00000264094.3	-	12	2116	c.2045C>A	c.(2044-2046)aCg>aAg	p.T682K	LOXL3_ENST00000409549.1_Missense_Mutation_p.T626K|LOXL3_ENST00000409249.1_Missense_Mutation_p.T400K|LOXL3_ENST00000393937.2_Missense_Mutation_p.T537K|LOXL3_ENST00000409986.1_Missense_Mutation_p.T537K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	682	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTTCACATCCGTGATGTCAAT	0.522																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(2044-2046)aCg>aAg		lysyl oxidase-like 3							101.0	95.0	97.0					2																	74761258		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74761258G>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.2045C>A	2.37:g.74761258G>T	ENSP00000264094:p.Thr682Lys					LOXL3_ENST00000409549.1_Missense_Mutation_p.T626K|LOXL3_ENST00000409986.1_Missense_Mutation_p.T537K|LOXL3_ENST00000409249.1_Missense_Mutation_p.T400K|LOXL3_ENST00000393937.2_Missense_Mutation_p.T537K	p.T682K	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			12	2116	-			682			Lysyl-oxidase like.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.2045C>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801920	0.70682	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	H	0.94582	3.555	0.58432	D	0.999999	D;D;P;P	0.60575	0.98;0.988;0.945;0.897	P;D;D;P	0.72075	0.88;0.976;0.917;0.621	T	0.81468	-0.0919	10	0.87932	D	0	.	15.2928	0.73879	0.0:0.0:1.0:0.0	.	537;626;537;682	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	K	682;400;537;626;537	ENSP00000264094:T682K;ENSP00000387103:T400K;ENSP00000377512:T537K;ENSP00000386696:T626K;ENSP00000386545:T537K	ENSP00000264094:T682K	T	-	2	0	LOXL3	74614766	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	9.620000	0.98373	2.541000	0.85698	0.563000	0.77884	ACG		0.522	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		5	51	1	0	0.184627	1	0.188945	5	51				
MLPH	79083	broad.mit.edu	37	2	238457904	238457904	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:238457904A>G	ENST00000264605.3	+	14	1952	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MLPH_ENST00000409373.1_Missense_Mutation_p.N433S|MLPH_ENST00000445024.2_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.N525S|MLPH_ENST00000410032.1_Missense_Mutation_p.N410S	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	553					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AAGTTCAGTAATTCCCTGAAA	0.498																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(1657-1659)aAt>aGt		melanophilin							108.0	108.0	108.0					2																	238457904		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238457904A>G	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1658A>G	2.37:g.238457904A>G	ENSP00000264605:p.Asn553Ser					MLPH_ENST00000445024.2_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.N525S|MLPH_ENST00000410032.1_Missense_Mutation_p.N410S|MLPH_ENST00000409373.1_Missense_Mutation_p.N433S	p.N553S	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	14	1952	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	553					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.1658A>G	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.687466	0.00738	.	.	ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000338530;ENST00000409373;ENST00000437893;ENST00000434770	T;T;T;T;T	0.25085	1.82;2.17;2.01;1.82;1.94	4.77	3.53	0.40419	.	1.387060	0.04485	N	0.378447	T	0.27524	0.0676	L	0.48362	1.52	0.09310	N	0.999997	B;P;B;B;B;B;P	0.45474	0.083;0.682;0.072;0.008;0.118;0.011;0.859	B;B;B;B;B;B;P	0.47673	0.04;0.115;0.075;0.019;0.156;0.008;0.554	T	0.15954	-1.0419	10	0.02654	T	1	-0.0589	7.8236	0.29303	0.7884:0.2116:0.0:0.0	.	214;409;525;433;525;553;410	Q53QV8;Q6UWC1;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;.;MELPH_HUMAN;.	S	410;553;525;433;313;102	ENSP00000386338:N410S;ENSP00000264605:N553S;ENSP00000341845:N525S;ENSP00000386780:N433S;ENSP00000412438:N313S	ENSP00000264605:N553S	N	+	2	0	MLPH	238122643	0.000000	0.05858	0.013000	0.15412	0.232000	0.25224	1.004000	0.29822	1.768000	0.52137	0.528000	0.53228	AAT		0.498	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		4	42	0	0	0	1	0	4	42				
ASPH	444	broad.mit.edu	37	8	62430612	62430612	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:62430612T>C	ENST00000379454.4	-	23	2158	c.1971A>G	c.(1969-1971)acA>acG	p.T657T	ASPH_ENST00000541428.1_Silent_p.T628T	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	657					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCATCCTGTTGTCTCGGGGA	0.398																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1882-1884)acA>acG		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						211.0	208.0	209.0					8																	62430612		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62430612T>C	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1971A>G	8.37:g.62430612T>C						ASPH_ENST00000379454.4_Silent_p.T657T	p.T628T	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			23	2044	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	657					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.1884A>G	CCDS34898.1																																																																																				0.398	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		5	77	0	0	0	1	0	5	77				
SLC35E4	339665	broad.mit.edu	37	22	31032537	31032537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:31032537C>T	ENST00000343605.4	+	1	899	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	SLC35E4_ENST00000406566.1_Missense_Mutation_p.P34S|SLC35E4_ENST00000300385.8_Missense_Mutation_p.P34S	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	34						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCCCGAGTGGCCCCCTGGCAG	0.706																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(100-102)Ccc>Tcc		solute carrier family 35, member E4							5.0	6.0	6.0					22																	31032537		2092	4072	6164	SO:0001583	missense	339665					integral to membrane		g.chr22:31032537C>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.100C>T	22.37:g.31032537C>T	ENSP00000339626:p.Pro34Ser					SLC35E4_ENST00000300385.8_Missense_Mutation_p.P34S|SLC35E4_ENST00000406566.1_Missense_Mutation_p.P34S	p.P34S	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	899	+			34					Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.100C>T	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609889	0.14066	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	.	.	.	5.61	-1.77	0.07982	.	0.607304	0.17164	N	0.184523	T	0.37320	0.0999	L	0.43152	1.355	0.58432	D	0.999996	B;B	0.16396	0.017;0.001	B;B	0.17433	0.018;0.001	T	0.08806	-1.0704	9	0.21014	T	0.42	-4.7916	1.3121	0.02100	0.1414:0.4014:0.1374:0.3198	.	34;34	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	S	34;34;34;10	.	ENSP00000300385:P34S	P	+	1	0	SLC35E4	29362537	0.190000	0.23276	0.114000	0.21550	0.059000	0.15707	0.279000	0.18771	-0.447000	0.07138	-0.154000	0.13518	CCC		0.706	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		4	4	0	0	0	1	0	4	4				
CCDC148	130940	broad.mit.edu	37	2	159196817	159196817	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:159196817C>T	ENST00000283233.5	-	5	736	c.423G>A	c.(421-423)caG>caA	p.Q141Q	CCDC148_ENST00000409889.1_Silent_p.Q141Q|CCDC148_ENST00000536771.1_Silent_p.Q55Q|CCDC148_ENST00000409187.1_Silent_p.Q150Q	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	141										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AAGTGTGATGCTGTCTGTATT	0.348																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(421-423)caG>caA		coiled-coil domain containing 148							159.0	151.0	153.0					2																	159196817		2203	4300	6503	SO:0001819	synonymous_variant	130940							g.chr2:159196817C>T		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.423G>A	2.37:g.159196817C>T						CCDC148_ENST00000409187.1_Silent_p.Q150Q|CCDC148_ENST00000409889.1_Silent_p.Q141Q|CCDC148_ENST00000536771.1_Silent_p.Q55Q	p.Q141Q	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN			5	736	-			141					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	ENST00000283233.5	37	c.423G>A	CCDS33304.1																																																																																				0.348	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		11	44	0	0	0	1	0	11	44				
KCNH2	3757	broad.mit.edu	37	7	150648112	150648112	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:150648112C>G	ENST00000262186.5	-	8	2443	c.2042G>C	c.(2041-2043)cGg>cCg	p.R681P	KCNH2_ENST00000392968.2_Missense_Mutation_p.R585P|KCNH2_ENST00000430723.3_Missense_Mutation_p.R681P|KCNH2_ENST00000330883.4_Missense_Mutation_p.R341P	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	681					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GATGAACTCCCGCACCCGCAG	0.617																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1753-1755)cGg>cCg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						101.0	82.0	88.0					7																	150648112		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648112C>G	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2042G>C	7.37:g.150648112C>G	ENSP00000262186:p.Arg681Pro					KCNH2_ENST00000330883.4_Missense_Mutation_p.R341P|KCNH2_ENST00000430723.3_Missense_Mutation_p.R681P|KCNH2_ENST00000262186.5_Missense_Mutation_p.R681P	p.R585P			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	2874	-	all_neural(206;0.219)		681		W -> C (in LQT2).			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1754G>C	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728663	0.48833	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	4.36	4.36	0.52297	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	M	0.81942	2.565	0.35669	D	0.813192	D;P;B;D;B	0.76494	0.999;0.537;0.026;0.998;0.211	D;B;B;D;B	0.75484	0.986;0.276;0.037;0.971;0.305	D	0.99967	1.1877	10	0.62326	D	0.03	.	14.7478	0.69501	0.0:1.0:0.0:0.0	.	585;681;341;681;341	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	P	341;585;681;341;681	ENSP00000328531:R341P;ENSP00000376695:R585P;ENSP00000262186:R681P;ENSP00000387657:R681P	ENSP00000262186:R681P	R	-	2	0	KCNH2	150279045	0.000000	0.05858	1.000000	0.80357	0.947000	0.59692	0.437000	0.21543	2.126000	0.65437	0.313000	0.20887	CGG		0.617	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		4	35	0	0	0	1	0	4	35				
CHSY3	337876	broad.mit.edu	37	5	129520044	129520044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:129520044C>A	ENST00000305031.4	+	3	1567	c.1209C>A	c.(1207-1209)taC>taA	p.Y403*	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	403					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CATACCAATACAGGCTGCATA	0.458																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1207-1209)taC>taA		chondroitin sulfate synthase 3							110.0	101.0	104.0					5																	129520044		2203	4300	6503	SO:0001587	stop_gained	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520044C>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1209C>A	5.37:g.129520044C>A	ENSP00000302629:p.Tyr403*					CHSY3_ENST00000507545.1_3'UTR	p.Y403*	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1567	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	403					B2RP97|Q76L22|Q86Y52	Nonsense_Mutation	SNP	ENST00000305031.4	37	c.1209C>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	37	6.310781	0.97462	.	.	ENSG00000198108	ENST00000305031	.	.	.	4.46	2.69	0.31865	.	0.120852	0.37348	N	0.002128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9229	9.7011	0.40187	0.0:0.7689:0.0:0.2311	.	.	.	.	X	403	.	.	Y	+	3	2	CHSY3	129547943	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.577000	0.23758	0.824000	0.34613	0.644000	0.83932	TAC		0.458	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		10	46	1	0	2.17888e-05	1	2.95337e-05	10	46				
CTAGE9	643854	broad.mit.edu	37	6	132029995	132029995	+	Missense_Mutation	SNP	G	G	T	rs573691095		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:132029995G>T	ENST00000314099.8	-	1	2211	c.2163C>A	c.(2161-2163)ttC>ttA	p.F721L	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	721	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GAGGTGGGGGGAAAGGAGGTC	0.522																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(2161-2163)ttC>ttA		CTAGE family, member 9							19.0	20.0	20.0					6																	132029995		667	1589	2256	SO:0001583	missense	643854					integral to membrane		g.chr6:132029995G>T		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.2163C>A	6.37:g.132029995G>T	ENSP00000395587:p.Phe721Leu					ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	p.F721L	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	2211	-			721			Pro-rich.			Missense_Mutation	SNP	ENST00000314099.8	37	c.2163C>A	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	5.135	0.210596	0.09757	.	.	ENSG00000236761	ENST00000314099	T	0.58797	0.31	.	.	.	.	.	.	.	.	T	0.26048	0.0635	L	0.52206	1.635	0.09310	N	1	B	0.25351	0.124	B	0.29663	0.105	T	0.28459	-1.0043	6	0.23302	T	0.38	.	.	.	.	.	721	A4FU28	CTGE9_HUMAN	L	721	ENSP00000395587:F721L	ENSP00000395587:F721L	F	-	3	2	CTAGE9	132071688	0.980000	0.34600	.	.	.	.	0.244000	0.18124	.	.	.	.	TTC		0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		11	95	1	0	6.40141e-05	1	8.33271e-05	11	95				
PEX1	5189	broad.mit.edu	37	7	92151424	92151424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:92151424C>A	ENST00000248633.4	-	2	360	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	PEX1_ENST00000428214.1_Missense_Mutation_p.G89W|PEX1_ENST00000438045.1_Missense_Mutation_p.G89W	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	89					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACCTGTCCCCCATTTGAGAGT	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(265-267)Ggg>Tgg		peroxisomal biogenesis factor 1							143.0	137.0	139.0					7																	92151424		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92151424C>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.265G>T	7.37:g.92151424C>A	ENSP00000248633:p.Gly89Trp					PEX1_ENST00000438045.1_Missense_Mutation_p.G89W|PEX1_ENST00000428214.1_Missense_Mutation_p.G89W	p.G89W	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	360	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	89					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.265G>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416501	0.83449	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.91894	-2.93;-2.93;-2.93	6.03	6.03	0.97812	Aspartate decarboxylase-like fold (2);Peroxisome biogenesis factor 1, alpha/beta (1);	0.048373	0.85682	D	0.000000	D	0.95755	0.8619	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95418	0.8504	10	0.87932	D	0	-15.4907	20.5666	0.99351	0.0:1.0:0.0:0.0	.	89;89	E9PE75;O43933	.;PEX1_HUMAN	W	89	ENSP00000410438:G89W;ENSP00000248633:G89W;ENSP00000394413:G89W	ENSP00000248633:G89W	G	-	1	0	PEX1	91989360	1.000000	0.71417	0.990000	0.47175	0.950000	0.60333	4.459000	0.60102	2.854000	0.98071	0.655000	0.94253	GGG		0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		14	88	1	0	7.93312e-07	1	1.17023e-06	14	88				
ADRA1B	147	broad.mit.edu	37	5	159344561	159344561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:159344561G>A	ENST00000306675.3	+	1	772	c.649G>A	c.(649-651)Gcg>Acg	p.A217T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CATCCCTCTGGCGGTCATTCT	0.542																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(649-651)Gcg>Acg		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						176.0	172.0	173.0					5																	159344561		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344561G>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.649G>A	5.37:g.159344561G>A	ENSP00000306662:p.Ala217Thr						p.A217T	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	772	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	217					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.649G>A	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069315	0.20147	.	.	ENSG00000170214	ENST00000306675	T	0.37915	1.17	5.93	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.419321	0.27866	N	0.017531	T	0.21509	0.0518	L	0.28504	0.86	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.08764	-1.0706	10	0.22109	T	0.4	.	3.6339	0.08142	0.1472:0.0:0.6022:0.2506	.	217	P35368	ADA1B_HUMAN	T	217	ENSP00000306662:A217T	ENSP00000306662:A217T	A	+	1	0	ADRA1B	159277139	0.993000	0.37304	0.995000	0.50966	0.993000	0.82548	3.131000	0.50515	2.826000	0.97356	0.655000	0.94253	GCG		0.542	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			8	86	0	0	0	1	0	8	86				
LOC643733	643733	broad.mit.edu	37	11	104776205	104776205	+	RNA	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:104776205C>G	ENST00000532510.1	-	0	3227																											GGTGGCAGCGCCAGGAATATC	0.433																																						ENST00000532510.1																			0																																																			643733							g.chr11:104776205C>G																													11.37:g.104776205C>G														0	3227	-									RNA	SNP	ENST00000532510.1	37																																																																																						0.433	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			7	33	0	0	0	1	0	7	33				
PCDH20	64881	broad.mit.edu	37	13	61986079	61986079	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:61986079C>G	ENST00000409186.1	-	5	4258	c.2153G>C	c.(2152-2154)gGt>gCt	p.G718A	PCDH20_ENST00000409204.4_Missense_Mutation_p.G718A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	718	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGCAGGCTCACCCCCATCAAC	0.433																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2152-2154)gGt>gCt		protocadherin 20							107.0	114.0	111.0					13																	61986079		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986079C>G	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2153G>C	13.37:g.61986079C>G	ENSP00000386653:p.Gly718Ala					PCDH20_ENST00000409204.4_Missense_Mutation_p.G718A	p.G718A			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4258	-		Breast(118;0.195)|Prostate(109;0.229)	691					A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2153G>C	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737880	0.69304	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01599	4.74;4.74	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000004	T	0.12475	0.0303	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00023	-1.2335	10	0.87932	D	0	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	718	A8K1K9	.	A	718;718;464	ENSP00000387250:G718A;ENSP00000386653:G718A	ENSP00000351500:G464A	G	-	2	0	PCDH20	60884080	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.745000	0.85046	2.812000	0.96745	0.557000	0.71058	GGT		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		13	75	0	0	0	1	0	13	75				
SPATA31C1	441452	broad.mit.edu	37	9	90535173	90535173	+	RNA	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:90535173G>C	ENST00000602681.1	+	0	1077							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAGCCTCCTGGGGCCACACC	0.637																																						ENST00000602681.1																			0																				30.0	38.0	35.0					9																	90535173		692	1591	2283			441452							g.chr9:90535173G>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535173G>C														0	1077	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.637	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		11	32	0	0	0	1	0	11	32				
ST3GAL5	8869	broad.mit.edu	37	2	86071517	86071517	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:86071517A>G	ENST00000377332.3	-	6	1117		c.e6+1		ST3GAL5_ENST00000393805.1_Splice_Site|ST3GAL5_ENST00000393808.3_Splice_Site	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5						carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CAACAAAAATACCTTATCTCG	0.423																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.e6+1		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							84.0	82.0	82.0					2																	86071517		2203	4300	6503	SO:0001630	splice_region_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86071517A>G	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.1008+1T>C	2.37:g.86071517A>G						ST3GAL5_ENST00000393805.1_Splice_Site|ST3GAL5_ENST00000393808.3_Splice_Site		NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			6	1117	-								B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Splice_Site	SNP	ENST00000377332.3	37		CCDS1986.2	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874070	0.72180	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1579	0.65428	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST3GAL5	85925028	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.963000	0.93385	2.015000	0.59207	0.397000	0.26171	.		0.423	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896	Intron	6	28	0	0	0	1	0	6	28				
PCGF3	10336	broad.mit.edu	37	4	727519	727519	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:727519G>T	ENST00000362003.5	+	4	445	c.50G>T	c.(49-51)tGc>tTc	p.C17F	PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000505655.2_Missense_Mutation_p.C17F|PCGF3_ENST00000470161.2_Missense_Mutation_p.C17F|PCGF3_ENST00000400151.2_Missense_Mutation_p.C17F	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CACATCACCTGCCGCCTGTGC	0.582																																						ENST00000362003.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						c.(49-51)tGc>tTc		polycomb group ring finger 3							75.0	86.0	82.0					4																	727519		2165	4248	6413	SO:0001583	missense	10336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	g.chr4:727519G>T	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.50G>T	4.37:g.727519G>T	ENSP00000354724:p.Cys17Phe					PCGF3_ENST00000521023.2_5'UTR|PCGF3_ENST00000470161.2_Missense_Mutation_p.C17F|PCGF3_ENST00000400151.2_Missense_Mutation_p.C17F|PCGF3_ENST00000482726.1_3'UTR|PCGF3_ENST00000505655.2_Missense_Mutation_p.C17F	p.C17F	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN			4	445	+			17					D3DVN1|O15262	Missense_Mutation	SNP	ENST00000362003.5	37	c.50G>T	CCDS3339.2	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716659	0.89205	.	.	ENSG00000185619	ENST00000419774;ENST00000362003;ENST00000427463;ENST00000470161;ENST00000400151;ENST00000433814;ENST00000505655	D;D;D;D;T;D;D	0.99809	-6.43;-6.43;-6.86;-6.43;-0.48;-6.43;-6.43	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.99874	4.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96028	0.9014	10	0.87932	D	0	-25.0263	16.6341	0.85042	0.0:0.0:1.0:0.0	.	17	Q3KNV8	PCGF3_HUMAN	F	17	ENSP00000416279:C17F;ENSP00000354724:C17F;ENSP00000401431:C17F;ENSP00000420489:C17F;ENSP00000383015:C17F;ENSP00000398493:C17F;ENSP00000423393:C17F	ENSP00000354724:C17F	C	+	2	0	PCGF3	717519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.768000	0.91737	2.598000	0.87819	0.655000	0.94253	TGC		0.582	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		5	37	1	0	0.000602214	1	0.000725341	5	37				
OR2M2	391194	broad.mit.edu	37	1	248344306	248344306	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:248344306T>C	ENST00000359682.2	+	1	1019	c.1019T>C	c.(1018-1020)cTa>cCa	p.L340P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	340						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTCAAAATACTAGCATTGATT	0.284																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(1018-1020)cTa>cCa		olfactory receptor, family 2, subfamily M, member 2							136.0	147.0	143.0					1																	248344306		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344306T>C	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.1019T>C	1.37:g.248344306T>C	ENSP00000352710:p.Leu340Pro						p.L340P	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	1019	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		340					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.1019T>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	3.062	-0.193082	0.06259	.	.	ENSG00000198601	ENST00000359682	T	0.19394	2.15	.	.	.	.	.	.	.	.	T	0.14141	0.0342	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.28299	-1.0048	6	0.87932	D	0	.	4.9952	0.14235	0.0:2.0E-4:0.0:0.9998	.	340	Q96R28	OR2M2_HUMAN	P	340	ENSP00000352710:L340P	ENSP00000352710:L340P	L	+	2	0	OR2M2	246410929	0.001000	0.12720	0.005000	0.12908	0.010000	0.07245	0.630000	0.24553	0.336000	0.23639	0.325000	0.21440	CTA		0.284	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		10	87	0	0	0	1	0	10	87				
ZNF521	25925	broad.mit.edu	37	18	22805260	22805260	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:22805260C>T	ENST00000361524.3	-	4	2770	c.2622G>A	c.(2620-2622)ggG>ggA	p.G874G	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.G874G|ZNF521_ENST00000584787.1_Silent_p.G654G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	874					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTCTTCGCTCCCATCGTGAC	0.532			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2620-2622)ggG>ggA		zinc finger protein 521							169.0	155.0	160.0					18																	22805260		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805260C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2622G>A	18.37:g.22805260C>T						ZNF521_ENST00000584787.1_Silent_p.G654G|ZNF521_ENST00000538137.2_Silent_p.G874G	p.G874G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2770	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		874					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.2622G>A	CCDS32806.1																																																																																				0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		9	71	0	0	0	1	0	9	71				
TMPRSS3	64699	broad.mit.edu	37	21	43816152	43816152	+	5'UTR	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:43816152G>T	ENST00000291532.3	-	0	803				TMPRSS3_ENST00000398405.1_5'Flank|TMPRSS3_ENST00000433957.2_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.P34T	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGCTCACACGGGCATGACCTA	0.537																																						ENST00000380399.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(100-102)Ccg>Acg		transmembrane protease, serine 3							45.0	43.0	44.0					21																	43816152		876	1991	2867	SO:0001623	5_prime_UTR_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43816152G>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.-153C>A	21.37:g.43816152G>T						TMPRSS3_ENST00000433957.2_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000291532.3_5'UTR	p.P34T			P57727	TMPS3_HUMAN			1	803	-			0					D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.100C>A	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	2.775	-0.254759	0.05829	.	.	ENSG00000160183	ENST00000380399	D	0.87809	-2.3	4.02	-1.12	0.09808	.	1.067860	0.07486	N	0.904852	T	0.77432	0.4129	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.62742	-0.6790	6	.	.	.	.	3.6229	0.08103	0.404:0.0:0.4261:0.1698	.	.	.	.	T	34	ENSP00000369762:P34T	.	P	-	1	0	TMPRSS3	42689221	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.334000	0.19787	-0.227000	0.09884	-0.137000	0.14449	CCG		0.537	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			3	17	1	0	0.115264	1	0.120372	3	17				
GALNT15	117248	broad.mit.edu	37	3	16268944	16268944	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:16268944G>T	ENST00000339732.5	+	10	2360	c.1857G>T	c.(1855-1857)ccG>ccT	p.P619P	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	619	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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ACCTGCGTCCGTGTGATGGAA	0.433																																						ENST00000339732.5																			0											c.(1855-1857)ccG>ccT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							124.0	124.0	124.0					3																	16268944		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16268944G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1857G>T	3.37:g.16268944G>T						GALNT15_ENST00000437509.1_Intron	p.P619P	NM_054110.4	NP_473451.3					10	2360	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1857G>T	CCDS33711.1																																																																																				0.433	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		10	31	1	0	2.17888e-05	1	2.95337e-05	10	31				
NETO2	81831	broad.mit.edu	37	16	47117401	47117401	+	Missense_Mutation	SNP	C	C	T	rs144054886		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:47117401C>T	ENST00000562435.1	-	9	1693	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	NETO2_ENST00000303155.5_Missense_Mutation_p.D430N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	437					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CAGTGGTGGTCGTGGATGCAG	0.552										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(1309-1311)Gac>Aac		neuropilin (NRP) and tolloid (TLL)-like 2		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	110.0	101.0	104.0		1288,1309	5.8	1.0	16	dbSNP_134	104	2,8598		0,2,4298	yes	missense,missense	NETO2	NM_001201477.1,NM_018092.4	23,23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	430/519,437/526	47117401	2,13004	2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47117401C>T	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1309G>A	16.37:g.47117401C>T	ENSP00000455169:p.Asp437Asn	HNSCC(25;0.065)				NETO2_ENST00000303155.5_Missense_Mutation_p.D430N	p.D437N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			9	1693	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	437					J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.1309G>A	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976588	0.74360	0.0	2.33E-4	ENSG00000171208	ENST00000303155	.	.	.	5.78	5.78	0.91487	.	0.089497	0.85682	D	0.000000	T	0.62720	0.2451	L	0.43923	1.385	0.80722	D	1	D;P;P	0.59357	0.985;0.824;0.948	P;B;B	0.50659	0.647;0.118;0.397	T	0.61481	-0.7054	9	0.46703	T	0.11	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	294;437;113	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	N	437	.	ENSP00000306726:D437N	D	-	1	0	NETO2	45674902	1.000000	0.71417	0.981000	0.43875	0.174000	0.22865	7.807000	0.86032	2.749000	0.94314	0.655000	0.94253	GAC		0.552	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		19	114	0	0	0	1	0	19	114				
OR4C12	283093	broad.mit.edu	37	11	50003617	50003617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:50003617G>A	ENST00000335238.4	-	1	454	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GCCACCAGGAGAATGCACAGG	0.507																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(421-423)Ctc>Ttc		olfactory receptor, family 4, subfamily C, member 12							159.0	164.0	162.0					11																	50003617		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003617G>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.421C>T	11.37:g.50003617G>A	ENSP00000334418:p.Leu141Phe						p.L141F	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	454	-			141					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.421C>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	0.562	-0.844855	0.02671	.	.	ENSG00000221954	ENST00000335238	T	0.00188	8.59	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36628	U	0.002491	T	0.00178	0.0005	L	0.50993	1.605	0.09310	N	1	B	0.14805	0.011	B	0.26310	0.068	T	0.25916	-1.0118	10	0.38643	T	0.18	.	8.2721	0.31851	0.0:0.2467:0.7533:0.0	.	141	Q96R67	OR4CC_HUMAN	F	141	ENSP00000334418:L141F	ENSP00000334418:L141F	L	-	1	0	OR4C12	49960193	0.000000	0.05858	0.029000	0.17559	0.021000	0.10359	-0.510000	0.06328	1.698000	0.51180	0.398000	0.26397	CTC		0.507	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		24	126	0	0	0	1	0	24	126				
TIMP4	7079	broad.mit.edu	37	3	12198380	12198380	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:12198380C>A	ENST00000287814.4	-	3	802	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	98	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGGAAGAGTCAAAAGGCGTA	0.393																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000287814.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(292-294)Gac>Tac		TIMP metallopeptidase inhibitor 4							129.0	116.0	121.0					3																	12198380		2203	4300	6503	SO:0001583	missense	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12198380C>A	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.292G>T	3.37:g.12198380C>A	ENSP00000287814:p.Asp98Tyr					SYN2_ENST00000432424.2_RNA	p.D98Y	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN			3	802	-			98			NTR.		B2R7K6	Missense_Mutation	SNP	ENST00000287814.4	37	c.292G>T	CCDS2608.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342964	0.61073	.	.	ENSG00000157150	ENST00000287814	D	0.93426	-3.22	4.85	3.98	0.46160	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.274240	0.40302	N	0.001134	D	0.92237	0.7538	L	0.53249	1.67	0.47737	D	0.999502	D	0.56521	0.976	P	0.53649	0.731	D	0.90024	0.4130	10	0.05525	T	0.97	.	13.1768	0.59633	0.0:0.9236:0.0:0.0764	.	98	Q99727	TIMP4_HUMAN	Y	98	ENSP00000287814:D98Y	ENSP00000287814:D98Y	D	-	1	0	TIMP4	12173380	0.968000	0.33430	0.982000	0.44146	0.998000	0.95712	1.910000	0.39927	1.284000	0.44531	0.655000	0.94253	GAC		0.393	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		11	26	1	0	0.00829132	1	0.00934935	11	26				
COL10A1	1300	broad.mit.edu	37	6	116446573	116446573	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:116446573G>C	ENST00000327673.4	-	1	490	c.83C>G	c.(82-84)cCc>cGc	p.P28R	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P28R			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	28	Nonhelical region (NC2).				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TATGCCTGTGGGCATTTGGTA	0.398																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(82-84)cCc>cGc		collagen, type X, alpha 1							264.0	245.0	251.0					6																	116446573		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116446573G>C		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.83C>G	6.37:g.116446573G>C	ENSP00000327368:p.Pro28Arg					NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P28R	p.P28R			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	1	490	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	28			Nonhelical region (NC2).		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.83C>G	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	7.411	0.634730	0.14322	.	.	ENSG00000123500	ENST00000243222;ENST00000327673;ENST00000452729;ENST00000418500	D;D;D;D	0.96885	-2.62;-2.62;-4.16;-2.31	6.06	5.19	0.71726	.	0.147574	0.44688	D	0.000433	D	0.90734	0.7092	M	0.73962	2.25	0.09310	N	0.999997	B	0.28713	0.22	B	0.24006	0.05	D	0.84288	0.0498	10	0.30854	T	0.27	.	8.5313	0.33335	0.0767:0.0:0.7367:0.1866	.	28	Q03692	COAA1_HUMAN	R	28	ENSP00000243222:P28R;ENSP00000327368:P28R;ENSP00000411285:P28R;ENSP00000392712:P28R	ENSP00000243222:P28R	P	-	2	0	COL10A1	116553266	0.996000	0.38824	0.251000	0.24312	0.000000	0.00434	4.997000	0.63921	1.577000	0.49804	-0.150000	0.13652	CCC		0.398	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			13	94	0	0	0	1	0	13	94				
DNAJC1	64215	broad.mit.edu	37	10	22209838	22209838	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:22209838G>A	ENST00000376980.3	-	4	716	c.426C>T	c.(424-426)taC>taT	p.Y142Y	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	142					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CCCGCCTGTAGTAGAATACAG	0.403																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(424-426)taC>taT		DnaJ (Hsp40) homolog, subfamily C, member 1							77.0	80.0	79.0					10																	22209838		2203	4299	6502	SO:0001819	synonymous_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22209838G>A	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.426C>T	10.37:g.22209838G>A						DNAJC1_ENST00000376946.1_3'UTR	p.Y142Y	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			4	716	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	142					B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	ENST00000376980.3	37	c.426C>T	CCDS7136.1																																																																																				0.403	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		5	40	0	0	0	1	0	5	40				
USP44	84101	broad.mit.edu	37	12	95927971	95927971	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:95927971C>G	ENST00000258499.3	-	2	350	c.62G>C	c.(61-63)aGc>aCc	p.S21T	USP44_ENST00000393091.2_Missense_Mutation_p.S21T|USP44_ENST00000552440.1_Missense_Mutation_p.S21T|USP44_ENST00000537435.2_Missense_Mutation_p.S21T	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	21					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGGTTGAGGCTGGAATGGTC	0.468											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(61-63)aGc>aCc		ubiquitin specific peptidase 44							174.0	145.0	155.0					12																	95927971		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927971C>G	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.62G>C	12.37:g.95927971C>G	ENSP00000258499:p.Ser21Thr		OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1316	USP44_ENST00000537435.2_Missense_Mutation_p.S21T|USP44_ENST00000393091.2_Missense_Mutation_p.S21T|USP44_ENST00000552440.1_Missense_Mutation_p.S21T	p.S21T	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			2	350	-			21					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.62G>C	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782251	0.31502	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435;ENST00000551837;ENST00000549639	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.27	2.8	0.32819	Zinc finger, RING/FYVE/PHD-type (1);	0.150530	0.64402	N	0.000017	T	0.21841	0.0526	L	0.35542	1.07	0.21627	N	0.999615	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	10	0.62326	D	0.03	.	8.5206	0.33273	0.7971:0.1332:0.0697:0.0	.	21	Q9H0E7	UBP44_HUMAN	T	21	ENSP00000258499:S21T;ENSP00000376806:S21T;ENSP00000448670:S21T;ENSP00000442629:S21T;ENSP00000448601:S21T;ENSP00000449635:S21T	ENSP00000258499:S21T	S	-	2	0	USP44	94452102	1.000000	0.71417	0.993000	0.49108	0.900000	0.52787	5.882000	0.69714	0.376000	0.24707	-0.410000	0.06199	AGC		0.468	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		11	93	0	0	0	1	0	11	93				
MICU2	221154	broad.mit.edu	37	13	22088518	22088518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:22088518C>A	ENST00000382374.4	-	7	702	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	213					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TTAGTTTTCACTGTCATCAAG	0.313																																						ENST00000382374.4																			0											c.(637-639)Gtg>Ttg		mitochondrial calcium uptake 2							186.0	179.0	181.0					13																	22088518		2202	4300	6502	SO:0001583	missense	221154							g.chr13:22088518C>A	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.637G>T	13.37:g.22088518C>A	ENSP00000371811:p.Val213Leu						p.V213L	NM_152726.2	NP_689939.1					7	702	-								Q8N0T6|Q8NAX8	Missense_Mutation	SNP	ENST00000382374.4	37	c.637G>T	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820979	0.32237	.	.	ENSG00000165487	ENST00000382374	T	0.48522	0.81	4.76	-1.62	0.08372	EF-hand-like domain (1);	1.390190	0.03749	N	0.256275	T	0.28699	0.0711	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13602	-1.0503	10	0.23891	T	0.37	-17.4781	6.5218	0.22279	0.0:0.5577:0.1834:0.2589	.	213	Q8IYU8	EFHA1_HUMAN	L	213	ENSP00000371811:V213L	ENSP00000371811:V213L	V	-	1	0	EFHA1	20986518	0.002000	0.14202	0.001000	0.08648	0.646000	0.38490	-0.542000	0.06091	-0.136000	0.11475	0.650000	0.86243	GTG		0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		4	31	1	0	1.23904e-05	1	1.68943e-05	4	31				
OR52N1	79473	broad.mit.edu	37	11	5809805	5809805	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5809805G>A	ENST00000317078.1	-	1	241	c.242C>T	c.(241-243)cCc>cTc	p.P81L	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	81						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)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGAGTGTTGGGAAGGGTGCT	0.463																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(241-243)cCc>cTc		olfactory receptor, family 52, subfamily N, member 1							145.0	132.0	136.0					11																	5809805		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809805G>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.242C>T	11.37:g.5809805G>A	ENSP00000322823:p.Pro81Leu					TRIM5_ENST00000380027.1_Intron	p.P81L	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	241	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	81					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.242C>T	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164700	0.78339	.	.	ENSG00000181001	ENST00000317078	T	0.25749	1.78	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.62829	0.2460	H	0.96269	3.795	0.54753	D	0.999989	D	0.67145	0.996	D	0.65010	0.931	T	0.76777	-0.2834	10	0.87932	D	0	.	16.492	0.84203	0.0:0.0:1.0:0.0	.	81	Q8NH53	O52N1_HUMAN	L	81	ENSP00000322823:P81L	ENSP00000322823:P81L	P	-	2	0	OR52N1	5766381	1.000000	0.71417	0.646000	0.29493	0.871000	0.50021	7.618000	0.83043	2.528000	0.85240	0.609000	0.83330	CCC		0.463	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		5	54	0	0	0	1	0	5	54				
SORCS1	114815	broad.mit.edu	37	10	108923887	108923887	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:108923887C>G	ENST00000263054.6	-	1	405	c.398G>C	c.(397-399)aGa>aCa	p.R133T	SORCS1_ENST00000344440.6_Missense_Mutation_p.R133T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	133					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCTCCATCTCTTAGCACTCC	0.687																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(397-399)aGa>aCa		sortilin-related VPS10 domain containing receptor 1							47.0	49.0	48.0					10																	108923887		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923887C>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.398G>C	10.37:g.108923887C>G	ENSP00000263054:p.Arg133Thr					SORCS1_ENST00000344440.6_Missense_Mutation_p.R133T	p.R133T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	405	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	133					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.398G>C	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	9.166	1.019849	0.19355	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.13901	2.55;2.56	4.81	0.854	0.19007	.	0.189521	0.28859	N	0.013902	T	0.05502	0.0145	N	0.08118	0	0.21416	N	0.999697	B;B;B;B;B	0.21905	0.004;0.062;0.007;0.004;0.007	B;B;B;B;B	0.18263	0.005;0.021;0.013;0.004;0.013	T	0.41963	-0.9479	9	.	.	.	-4.3748	7.5465	0.27770	0.0:0.5472:0.0:0.4528	.	133;133;133;133;133	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	T	133	ENSP00000263054:R133T;ENSP00000345964:R133T	.	R	-	2	0	SORCS1	108913877	0.000000	0.05858	0.736000	0.30914	0.329000	0.28539	0.003000	0.13083	-0.007000	0.14345	0.655000	0.94253	AGA		0.687	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	31	0	0	0	1	0	5	31				
OR5D16	390144	broad.mit.edu	37	11	55606783	55606783	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55606783C>A	ENST00000378396.1	+	1	556	c.556C>A	c.(556-558)Ctg>Atg	p.L186M		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTTATCCTCCCTGATATCACT	0.418																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(556-558)Ctg>Atg		olfactory receptor, family 5, subfamily D, member 16							189.0	166.0	174.0					11																	55606783		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606783C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.556C>A	11.37:g.55606783C>A	ENSP00000367649:p.Leu186Met						p.L186M	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	556	+		all_epithelial(135;0.208)	186					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.556C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432596	0.62844	.	.	ENSG00000205029	ENST00000378396	T	0.00224	8.51	4.27	0.163	0.14986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	L	0.54323	1.7	0.09310	N	1	D	0.69078	0.997	D	0.78314	0.991	T	0.52931	-0.8509	9	0.87932	D	0	-17.383	5.0537	0.14522	0.0:0.4889:0.1476:0.3635	.	186	Q8NGK9	OR5DG_HUMAN	M	186	ENSP00000367649:L186M	ENSP00000367649:L186M	L	+	1	2	OR5D16	55363359	0.000000	0.05858	0.000000	0.03702	0.776000	0.43924	-1.377000	0.02558	0.085000	0.17107	0.530000	0.56133	CTG		0.418	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		8	88	1	0	0.00307968	1	0.00354221	8	88				
PTDSS1	9791	broad.mit.edu	37	8	97318726	97318726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:97318726C>G	ENST00000517309.1	+	8	1275	c.949C>G	c.(949-951)Cat>Gat	p.H317D	PTDSS1_ENST00000455950.2_Missense_Mutation_p.H171D|Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000522072.1_Missense_Mutation_p.H114D	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	317					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CCAAGCCAGTCATCCATTAAG	0.413																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(949-951)Cat>Gat		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						213.0	198.0	203.0					8																	97318726		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97318726C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.949C>G	8.37:g.97318726C>G	ENSP00000430548:p.His317Asp					PTDSS1_ENST00000455950.2_Missense_Mutation_p.H171D|PTDSS1_ENST00000522072.1_Missense_Mutation_p.H114D	p.H317D	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			8	1275	+	Breast(36;6.18e-05)		317					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.949C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802510	0.90538	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.55588	0.57;0.61;0.51	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.83699	0.0181	10	0.66056	D	0.02	-14.384	18.479	0.90804	0.0:1.0:0.0:0.0	.	317	P48651	PTSS1_HUMAN	D	317;171;114	ENSP00000430548:H317D;ENSP00000401248:H171D;ENSP00000430928:H114D	ENSP00000401248:H171D	H	+	1	0	PTDSS1	97387902	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	7.610000	0.82949	2.793000	0.96121	0.655000	0.94253	CAT		0.413	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			11	76	0	0	0	1	0	11	76				
OR5T3	390154	broad.mit.edu	37	11	56020472	56020472	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56020472A>G	ENST00000303059.3	+	1	797	c.797A>G	c.(796-798)aAg>aGg	p.K266R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGAAGGCAAAAGGCCTTCTCT	0.423																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(796-798)aAg>aGg		olfactory receptor, family 5, subfamily T, member 3							222.0	200.0	208.0					11																	56020472		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020472A>G	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.797A>G	11.37:g.56020472A>G	ENSP00000305403:p.Lys266Arg						p.K266R	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	797	+	Esophageal squamous(21;0.00448)		266					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.797A>G	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.222503	0.39300	.	.	ENSG00000172489	ENST00000303059	T	0.00360	7.86	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000123	T	0.00524	0.0017	M	0.69463	2.115	0.32124	N	0.587581	P	0.40681	0.727	P	0.50825	0.651	T	0.51309	-0.8722	10	0.62326	D	0.03	.	14.5047	0.67746	1.0:0.0:0.0:0.0	.	266	Q8NGG3	OR5T3_HUMAN	R	266	ENSP00000305403:K266R	ENSP00000305403:K266R	K	+	2	0	OR5T3	55777048	0.999000	0.42202	0.070000	0.20053	0.003000	0.03518	4.522000	0.60539	2.076000	0.62316	0.523000	0.50628	AAG		0.423	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		27	142	0	0	0	1	0	27	142				
FGF12	2257	broad.mit.edu	37	3	191861799	191861799	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:191861799T>A	ENST00000454309.2	-	5	1556	c.731A>T	c.(730-732)tAg>tTg	p.*244L	FGF12_ENST00000445105.2_Nonstop_Mutation_p.*182L|FGF12_ENST00000264730.3_Nonstop_Mutation_p.*182L|FGF12_ENST00000430714.1_Nonstop_Mutation_p.*145L|FGF12_ENST00000450716.1_Nonstop_Mutation_p.*182L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	0					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		agTTCTCAGCTATGTTGAATC	0.453																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(730-732)tAg>tTg		fibroblast growth factor 12							324.0	277.0	293.0					3																	191861799		2203	4300	6503	SO:0001578	stop_lost	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:191861799T>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.731A>T	3.37:g.191861799T>A						FGF12_ENST00000445105.1_Nonstop_Mutation_p.*182L|FGF12_ENST00000430714.1_Nonstop_Mutation_p.*145L|FGF12_ENST00000450716.1_Nonstop_Mutation_p.*182L|FGF12_ENST00000264730.3_Nonstop_Mutation_p.*182L	p.*244L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	5	1556	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	0					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Nonstop_Mutation	SNP	ENST00000454309.2	37	c.731A>T	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954600	0.92726	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000440901;ENST00000450716;ENST00000430714	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4176	0.74983	0.0:0.0:0.0:1.0	.	.	.	.	L	182;182;182;244;139;182;145	.	.	X	-	2	0	FGF12	193344493	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.238000	0.73509	0.477000	0.44152	TAG		0.453	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		12	114	0	0	0	1	0	12	114				
KCNC2	3747	broad.mit.edu	37	12	75601341	75601341	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75601341C>A	ENST00000549446.1	-	2	1103	c.423G>T	c.(421-423)tgG>tgT	p.W141C	KCNC2_ENST00000540018.1_Missense_Mutation_p.W141C|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141C|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141C|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141C|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141C|KCNC2_ENST00000341669.3_Missense_Mutation_p.W141C|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141C	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	141					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CGTCGATGCCCCAGAAGGCCA	0.667																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(421-423)tgG>tgT		potassium voltage-gated channel, Shaw-related subfamily, member 2							36.0	40.0	39.0					12																	75601341		2203	4299	6502	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601341C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.423G>T	12.37:g.75601341C>A	ENSP00000449253:p.Trp141Cys					KCNC2_ENST00000341669.3_Missense_Mutation_p.W141C|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141C|KCNC2_ENST00000540018.1_Missense_Mutation_p.W141C|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141C|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141C|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141C|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141C	p.W141C	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	1103	-			141					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.423G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925674	0.73213	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	3.52	3.52	0.40303	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.49305	D	0.000159	T	0.78953	0.4365	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.80764	0.992;0.992;0.986;0.986;0.994	D	0.87676	0.2544	10	0.87932	D	0	.	15.6108	0.76716	0.0:1.0:0.0:0.0	.	141;141;141;141;141	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	C	141	ENSP00000448301:W141C;ENSP00000449941:W141C;ENSP00000449253:W141C;ENSP00000340121:W141C;ENSP00000298972:W141C;ENSP00000319877:W141C;ENSP00000438423:W141C;ENSP00000376966:W141C	ENSP00000298972:W141C	W	-	3	0	KCNC2	73887608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	1.970000	0.57323	0.563000	0.77884	TGG		0.667	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		5	18	1	0	1.23904e-05	1	1.68943e-05	5	18				
DNM1P46	196968	broad.mit.edu	37	15	100332965	100332965	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:100332965G>T	ENST00000341853.1	-	0	1226				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GGCAGGCAGGGGCAGGGGAGG	0.622																																						ENST00000341853.1																			0																				45.0	60.0	56.0					15																	100332965		876	1988	2864			196968							g.chr15:100332965G>T	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332965G>T								NR_003260.1						0	1226	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.622	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	53	1	0	0.014758	1	0.0159185	4	53				
CTNNA3	29119	broad.mit.edu	37	10	67829214	67829214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:67829214C>A	ENST00000433211.2	-	15	2185	c.2011G>T	c.(2011-2013)Gaa>Taa	p.E671*	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.E671*	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAATCTTTTCTTTTTCTGCC	0.358																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2011-2013)Gaa>Taa		catenin (cadherin-associated protein), alpha 3							178.0	155.0	163.0					10																	67829214		2203	4300	6503	SO:0001587	stop_gained	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67829214C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2011G>T	10.37:g.67829214C>A	ENSP00000389714:p.Glu671*					CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.E10*|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.E671*	p.E671*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			15	2185	-			671						Nonsense_Mutation	SNP	ENST00000433211.2	37	c.2011G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	42	9.744174	0.99253	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	.	.	.	5.29	5.29	0.74685	.	0.000000	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-16.1923	16.4194	0.83753	0.0:1.0:0.0:0.0	.	.	.	.	X	671;671;10	.	ENSP00000362840:E10X	E	-	1	0	CTNNA3	67499220	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.789000	0.69029	2.483000	0.83821	0.591000	0.81541	GAA		0.358	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		10	73	1	0	7.48243e-07	1	1.10552e-06	10	73				
MTMR3	8897	broad.mit.edu	37	22	30421781	30421781	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:30421781T>A	ENST00000401950.2	+	20	3930	c.3588T>A	c.(3586-3588)acT>acA	p.T1196T	MTMR3_ENST00000323630.5_Silent_p.T1060T|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.T1168T|MTMR3_ENST00000333027.3_Silent_p.T1168T|MTMR3_ENST00000351488.3_Silent_p.T1159T	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1196					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTGCTGCCACTTCCAACTGAA	0.552																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(3502-3504)acT>acA		myotubularin related protein 3							78.0	69.0	72.0					22																	30421781		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30421781T>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3588T>A	22.37:g.30421781T>A						MTMR3_ENST00000406629.1_Silent_p.T1168T|MTMR3_ENST00000401950.2_Silent_p.T1196T|MTMR3_ENST00000351488.3_Silent_p.T1159T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.T1060T	p.T1168T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		20	3832	+			1196					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.3504T>A	CCDS13870.1																																																																																				0.552	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		4	47	0	0	0	1	0	4	47				
EPPK1	83481	broad.mit.edu	37	8	144942066	144942066	+	Missense_Mutation	SNP	C	C	A	rs368495019		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:144942066C>A	ENST00000525985.1	-	2	5427	c.5356G>T	c.(5356-5358)Gtg>Ttg	p.V1786L				P58107	EPIPL_HUMAN	epiplakin 1	1786						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V1786M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACCTCCCCACGCGCATTTTT	0.517																																						ENST00000525985.1																			1	Substitution - Missense(1)	p.V1786M(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5356-5358)Gtg>Ttg		epiplakin 1							108.0	105.0	106.0					8																	144942066		1979	4158	6137	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942066C>A	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.5356G>T	8.37:g.144942066C>A	ENSP00000436337:p.Val1786Leu						p.V1786L			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	5427	-	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)		1786					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5356G>T		.	.	.	.	.	.	.	.	.	.	C	7.207	0.594595	0.13875	.	.	ENSG00000227184	ENST00000525985	T	0.66815	-0.23	5.2	-2.11	0.07187	.	.	.	.	.	T	0.48589	0.1508	L	0.43923	1.385	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.34775	-0.9815	9	0.09084	T	0.74	.	5.7702	0.18249	0.1289:0.4023:0.0:0.4688	.	1786	E9PPU0	.	L	1786	ENSP00000436337:V1786L	ENSP00000436337:V1786L	V	-	1	0	EPPK1	145014054	0.000000	0.05858	0.027000	0.17364	0.041000	0.13682	-0.314000	0.08092	-0.265000	0.09352	-0.203000	0.12734	GTG		0.517	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		19	46	1	0	1.67942e-08	1	2.6656e-08	19	46				
COL5A1	1289	broad.mit.edu	37	9	137702117	137702117	+	Missense_Mutation	SNP	C	C	A	rs368305377		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:137702117C>A	ENST00000371817.3	+	44	3905	c.3491C>A	c.(3490-3492)cCg>cAg	p.P1164Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1164	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGGGGAGCCGGGGCAGAAA	0.592																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3490-3492)cCg>cAg		collagen, type V, alpha 1							58.0	74.0	69.0					9																	137702117		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137702117C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3491C>A	9.37:g.137702117C>A	ENSP00000360882:p.Pro1164Gln						p.P1164Q	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	44	3905	+		Myeloproliferative disorder(178;0.0341)	1164			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3491C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846788	0.51164	.	.	ENSG00000130635	ENST00000371817	D	0.96716	-4.1	4.49	4.49	0.54785	.	0.070544	0.56097	U	0.000022	D	0.96901	0.8988	L	0.51914	1.62	0.58432	D	0.999999	D	0.63880	0.993	P	0.60949	0.881	D	0.97789	1.0237	10	0.87932	D	0	.	17.1866	0.86868	0.0:1.0:0.0:0.0	.	1164	P20908	CO5A1_HUMAN	Q	1164	ENSP00000360882:P1164Q	ENSP00000360882:P1164Q	P	+	2	0	COL5A1	136841938	1.000000	0.71417	0.931000	0.37212	0.311000	0.27955	7.464000	0.80887	2.038000	0.60285	0.637000	0.83480	CCG		0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		8	51	1	0	0.00307968	1	0.00354221	8	51				
FANCD2OS	115795	broad.mit.edu	37	3	10145981	10145981	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:10145981G>T	ENST00000450660.2	-	2	694	c.478C>A	c.(478-480)Ctc>Atc	p.L160I	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.L160I	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	160																	TACAGCAAGAGGATAGAGCGC	0.478																																						ENST00000450660.2																			0											c.(478-480)Ctc>Atc		FANCD2 opposite strand							121.0	109.0	113.0					3																	10145981		2203	4300	6503	SO:0001583	missense	115795							g.chr3:10145981G>T	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.478C>A	3.37:g.10145981G>T	ENSP00000429608:p.Leu160Ile					FANCD2OS_ENST00000524279.1_Missense_Mutation_p.L160I	p.L160I	NM_001164839.1	NP_001158311.1					2	694	-									Missense_Mutation	SNP	ENST00000450660.2	37	c.478C>A	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199052	0.79015	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000011	T	0.64516	0.2605	L	0.29908	0.895	0.44702	D	0.997692	D	0.60575	0.988	P	0.62184	0.899	T	0.67122	-0.5750	9	0.66056	D	0.02	.	16.9439	0.86225	0.0:0.0:1.0:0.0	.	160	Q96PS1	CC024_HUMAN	I	160	.	ENSP00000429608:L160I	L	-	1	0	C3orf24	10120981	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.277000	0.58939	2.608000	0.88229	0.650000	0.86243	CTC		0.478	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		10	31	1	0	0.000442599	1	0.000543056	10	31				
DGKB	1607	broad.mit.edu	37	7	14378140	14378140	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:14378140C>G	ENST00000403951.2	-	23	2544	c.2125G>C	c.(2125-2127)Gat>Cat	p.D709H	DGKB_ENST00000399322.3_Splice_Site_p.D709H|DGKB_ENST00000258767.5_Splice_Site_p.D709H|DGKB_ENST00000444700.2_Splice_Site_p.D690H|DGKB_ENST00000407950.1_Splice_Site_p.D701H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Splice_Site_p.D708H|DGKB_ENST00000406247.3_Splice_Site_p.D709H			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	709					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GAAAACTGACCTTGACTTGCA	0.358																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e23+1		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						157.0	144.0	148.0					7																	14378140		1835	4083	5918	SO:0001630	splice_region_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378140C>G	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2125+1G>C	7.37:g.14378140C>G						DGKB_ENST00000258767.5_Splice_Site_p.D709_splice|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Splice_Site_p.D708_splice|DGKB_ENST00000399322.3_Splice_Site_p.D709_splice|DGKB_ENST00000407950.1_Splice_Site_p.D701_splice|DGKB_ENST00000444700.2_Splice_Site_p.D690_splice|DGKB_ENST00000406247.3_Splice_Site_p.D709_splice	p.D709_splice			Q9Y6T7	DGKB_HUMAN			23	2544	-			709					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Splice_Site	SNP	ENST00000403951.2	37	c.2125_splice	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698903	0.88830	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.37	5.37	0.77165	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.75484	0.98;0.986;0.986;0.961	T	0.59984	-0.7351	9	.	.	.	.	19.114	0.93330	0.0:1.0:0.0:0.0	.	708;690;709;709	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	H	709;709;709;708;701;690;709	ENSP00000385780:D709H;ENSP00000382260:D709H;ENSP00000258767:D709H;ENSP00000384909:D708H;ENSP00000385031:D701H;ENSP00000388451:D690H;ENSP00000386066:D709H	.	D	-	1	0	DGKB	14344665	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.501000	0.84356	0.557000	0.71058	GAT		0.358	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	Missense_Mutation	7	56	0	0	0	1	0	7	56				
FRMPD2	143162	broad.mit.edu	37	10	49381058	49381058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:49381058C>A	ENST00000374201.3	-	25	3456	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Nonsense_Mutation_p.E4*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.E1027*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.E1020*	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1052					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCGTGCGTTCATCTCCCATG	0.502																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(3154-3156)Gaa>Taa		FERM and PDZ domain containing 2							40.0	29.0	33.0					10																	49381058		2088	4116	6204	SO:0001587	stop_gained	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49381058C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3154G>T	10.37:g.49381058C>A	ENSP00000363317:p.Glu1052*					FRMPD2_ENST00000474573.1_Nonsense_Mutation_p.E4*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.E1020*|FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.E1027*|FRMPD2_ENST00000463706.1_5'UTR	p.E1052*	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	25	3456	-			1052					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Nonsense_Mutation	SNP	ENST00000374201.3	37	c.3154G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	39	7.840334	0.98519	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	4.1	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	10.724	0.46057	0.0:0.6262:0.3738:0.0	.	.	.	.	X	4;1052;1027;1020	.	ENSP00000307079:E1027X	E	-	1	0	FRMPD2	49051064	0.001000	0.12720	0.026000	0.17262	0.823000	0.46562	0.909000	0.28558	0.792000	0.33850	0.462000	0.41574	GAA		0.502	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		11	59	1	0	0.010729	1	0.0117521	11	59				
CYP3A5	1577	broad.mit.edu	37	7	99270239	99270239	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99270239T>G	ENST00000222982.4	-	4	381	c.282A>C	c.(280-282)ctA>ctC	p.L94L	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_Silent_p.L84L|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Silent_p.L94L	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	94					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	ATTCTTTCACTAGCACTGTTC	0.383																																						ENST00000343703.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(250-252)ctA>ctC		cytochrome P450, family 3, subfamily A, polypeptide 5							199.0	180.0	186.0					7																	99270239		2203	4300	6503	SO:0001819	synonymous_variant	1577							g.chr7:99270239T>G	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.282A>C	7.37:g.99270239T>G						CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Silent_p.L94L|CYP3A5_ENST00000222982.4_Silent_p.L94L|CYP3A5_ENST00000480723.1_5'UTR	p.L84L							5	638	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)							A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Silent	SNP	ENST00000222982.4	37	c.252A>C	CCDS5672.1																																																																																				0.383	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			11	107	0	0	0	1	0	11	107				
TRIM48	79097	broad.mit.edu	37	11	55032763	55032763	+	Silent	SNP	C	C	A	rs373220127		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55032763C>A	ENST00000417545.2	+	2	518	c.432C>A	c.(430-432)ccC>ccA	p.P144P		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GACACTGTCCCGCTGAGTGGG	0.493																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(430-432)ccC>ccA		tripartite motif containing 48							44.0	42.0	42.0					11																	55032763		2187	4249	6436	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55032763C>A	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.432C>A	11.37:g.55032763C>A							p.P144P	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	518	+			128					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.432C>A	CCDS7947.2																																																																																				0.493	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	43	1	0	0.000602214	1	0.000725341	5	43				
FREM1	158326	broad.mit.edu	37	9	14805060	14805060	+	Missense_Mutation	SNP	G	G	T	rs201445789		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:14805060G>T	ENST00000380880.3	-	19	4148	c.3365C>A	c.(3364-3366)aCg>aAg	p.T1122K	FREM1_ENST00000422223.2_Missense_Mutation_p.T1122K|FREM1_ENST00000380881.4_Missense_Mutation_p.T1123K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1122					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GACGTACACCGTGAACTGGTC	0.433																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3367-3369)aCg>aAg		FRAS1 related extracellular matrix 1							163.0	156.0	158.0					9																	14805060		1940	4146	6086	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14805060G>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3365C>A	9.37:g.14805060G>T	ENSP00000370262:p.Thr1122Lys					FREM1_ENST00000422223.2_Missense_Mutation_p.T1122K|FREM1_ENST00000380880.3_Missense_Mutation_p.T1122K	p.T1123K			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4183	-			1122					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3368C>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239049	0.10023	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.27557	1.66;1.66;1.66	5.42	-5.72	0.02406	.	1.133110	0.06502	N	0.736491	T	0.25975	0.0633	L	0.39633	1.23	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.29731	-1.0002	10	0.51188	T	0.08	1.6128	14.5987	0.68424	0.4426:0.0:0.5574:0.0	.	1122	Q5H8C1	FREM1_HUMAN	K	1123;1122;1122	ENSP00000370263:T1123K;ENSP00000412940:T1122K;ENSP00000370262:T1122K	ENSP00000370257:T1125K	T	-	2	0	FREM1	14795060	0.990000	0.36364	0.000000	0.03702	0.082000	0.17680	0.796000	0.26986	-1.464000	0.01902	-0.142000	0.14014	ACG		0.433	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		27	37	1	0	6.36457e-07	1	9.47981e-07	27	37				
CDH9	1007	broad.mit.edu	37	5	26890054	26890054	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:26890054T>G	ENST00000231021.4	-	9	1575	c.1403A>C	c.(1402-1404)cAa>cCa	p.Q468P		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	468	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGGCTACTTTGTTTTGGGTT	0.383																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1402-1404)cAa>cCa		cadherin 9, type 2 (T1-cadherin)							152.0	155.0	154.0					5																	26890054		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890054T>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1403A>C	5.37:g.26890054T>G	ENSP00000231021:p.Gln468Pro						p.Q468P	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			9	1575	-			468			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1403A>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715843	0.68844	.	.	ENSG00000113100	ENST00000231021	T	0.53206	0.63	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.125905	0.53938	D	0.000046	T	0.70107	0.3186	M	0.91972	3.26	0.47123	D	0.999328	P;P	0.49307	0.84;0.922	P;P	0.59948	0.74;0.866	T	0.76121	-0.3075	9	.	.	.	.	9.7188	0.40291	0.1546:0.0:0.0:0.8453	.	61;468	B4DFP0;Q9ULB4	.;CADH9_HUMAN	P	468	ENSP00000231021:Q468P	.	Q	-	2	0	CDH9	26925811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.415000	0.59809	2.074000	0.62210	0.450000	0.29827	CAA		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	76	0	0	0	1	0	6	76				
GATAD2A	54815	broad.mit.edu	37	19	19612150	19612150	+	Silent	SNP	G	G	C	rs550607905		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:19612150G>C	ENST00000360315.3	+	9	1737	c.1425G>C	c.(1423-1425)cgG>cgC	p.R475R	GATAD2A_ENST00000429563.2_Silent_p.R303R|GATAD2A_ENST00000252577.5_Silent_p.R475R|GATAD2A_ENST00000358713.3_Silent_p.R475R|GATAD2A_ENST00000404158.1_Silent_p.R476R|GATAD2A_ENST00000537887.1_Silent_p.R104R	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	475	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TTGAGCAGCGGCTCCTGCAGC	0.667																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1426-1428)cgG>cgC		GATA zinc finger domain containing 2A							20.0	18.0	18.0					19																	19612150		2200	4299	6499	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19612150G>C	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1425G>C	19.37:g.19612150G>C						GATAD2A_ENST00000429563.2_Silent_p.R303R|GATAD2A_ENST00000358713.3_Silent_p.R475R|GATAD2A_ENST00000252577.5_Silent_p.R475R|GATAD2A_ENST00000537887.1_Silent_p.R104R|GATAD2A_ENST00000360315.3_Silent_p.R475R	p.R476R			Q86YP4	P66A_HUMAN			11	1846	+			475					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.1428G>C	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203691	0.06180	.	.	ENSG00000167491	ENST00000418032	.	.	.	4.99	-1.69	0.08186	.	.	.	.	.	T	0.51550	0.1681	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43621	-0.9380	4	.	.	.	-17.1035	7.3489	0.26678	0.0864:0.186:0.6395:0.088	.	.	.	.	P	102	.	.	A	+	1	0	GATAD2A	19473150	0.269000	0.24143	0.991000	0.47740	0.197000	0.23852	-0.559000	0.05971	-0.276000	0.09206	0.645000	0.84053	GCT		0.667	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		5	15	0	0	0	1	0	5	15				
IGHMBP2	3508	broad.mit.edu	37	11	68682420	68682420	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:68682420G>A	ENST00000255078.3	+	6	952	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	281	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCACTCCCTGGATGCGGTTTT	0.592																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(841-843)Gat>Aat		immunoglobulin mu binding protein 2							107.0	96.0	100.0					11																	68682420		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68682420G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.841G>A	11.37:g.68682420G>A	ENSP00000255078:p.Asp281Asn						p.D281N	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	952	+			281			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.841G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307351	0.81247	.	.	ENSG00000132740	ENST00000255078	D	0.83163	-1.69	3.71	3.71	0.42584	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.187649	0.46145	D	0.000309	D	0.90280	0.6960	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91742	0.5405	10	0.72032	D	0.01	-6.054	14.7755	0.69729	0.0:0.0:1.0:0.0	.	281	P38935	SMBP2_HUMAN	N	281	ENSP00000255078:D281N	ENSP00000255078:D281N	D	+	1	0	IGHMBP2	68438996	1.000000	0.71417	0.145000	0.22337	0.514000	0.34195	8.923000	0.92808	2.078000	0.62432	0.555000	0.69702	GAT		0.592	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		4	56	0	0	0	1	0	4	56				
OFD1	8481	broad.mit.edu	37	X	13757119	13757119	+	Splice_Site	SNP	A	A	T	rs312262829		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:13757119A>T	ENST00000340096.6	+	5	708		c.e5-1		OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000490265.1_Splice_Site|OFD1_ENST00000380567.1_Splice_Site|OFD1_ENST00000380550.3_Splice_Site	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCTTTTAACAGGTTTCAGGA	0.313																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25	GRCh37	CS085071	OFD1	S		c.e5-1		oral-facial-digital syndrome 1							33.0	32.0	33.0					X																	13757119		2199	4287	6486	SO:0001630	splice_region_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13757119A>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.382-1A>T	X.37:g.13757119A>T						OFD1_ENST00000490265.1_Splice_Site|OFD1_ENST00000340096.6_Splice_Site|OFD1_ENST00000398395.3_Splice_Site|OFD1_ENST00000380550.3_Splice_Site				O75665	OFD1_HUMAN			5	708	+								B9ZVU5|O75666|Q4VAK4	Splice_Site	SNP	ENST00000340096.6	37		CCDS14157.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.701857	0.48307	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0592	0.64788	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OFD1	13667040	1.000000	0.71417	0.961000	0.40146	0.647000	0.38526	7.521000	0.81832	1.696000	0.51158	0.481000	0.45027	.		0.313	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	Intron	7	17	0	0	0	1	0	7	17				
OR5W2	390148	broad.mit.edu	37	11	55681516	55681516	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55681516G>T	ENST00000344514.1	-	1	542	c.543C>A	c.(541-543)atC>atA	p.I181I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	181						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)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGGAGGGATATCACAGA	0.403																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(541-543)atC>atA		olfactory receptor, family 5, subfamily W, member 2							75.0	72.0	73.0					11																	55681516		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681516G>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.543C>A	11.37:g.55681516G>T							p.I181I	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	542	-			181						Silent	SNP	ENST00000344514.1	37	c.543C>A	CCDS31513.1																																																																																				0.403	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		10	82	1	0	3.86212e-05	1	5.09224e-05	10	82				
SPATA19	219938	broad.mit.edu	37	11	133714143	133714143	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:133714143C>A	ENST00000299140.3	-	4	411	c.357G>T	c.(355-357)tgG>tgT	p.W119C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W119C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	119					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CACCTTACCTCCATCTTATGA	0.532																																						ENST00000299140.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(355-357)tgG>tgT		spermatogenesis associated 19							175.0	133.0	147.0					11																	133714143		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133714143C>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.357G>T	11.37:g.133714143C>A	ENSP00000299140:p.Trp119Cys					SPATA19_ENST00000532889.1_Missense_Mutation_p.W119C	p.W119C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	4	411	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	119					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.357G>T	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395138	0.62066	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.59502	0.26;0.26	5.53	5.53	0.82687	.	0.127647	0.37577	N	0.002031	T	0.66934	0.2840	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69518	-0.5124	10	0.87932	D	0	-10.9132	14.9341	0.70938	0.0:1.0:0.0:0.0	.	119	Q7Z5L4	SPT19_HUMAN	C	119	ENSP00000299140:W119C;ENSP00000435248:W119C	ENSP00000299140:W119C	W	-	3	0	SPATA19	133219353	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.821000	0.55700	2.604000	0.88044	0.655000	0.94253	TGG		0.532	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		7	36	1	0	8.12818e-05	1	0.000104036	7	36				
OR2A14	135941	broad.mit.edu	37	7	143827100	143827100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:143827100G>T	ENST00000408899.2	+	1	950	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A299T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGTCAAGGGCGCCCTGAGGAG	0.512																																						ENST00000408899.2																			1	Substitution - Missense(1)	p.A299T(1)	large_intestine(1)	large_intestine(4)|lung(17)|skin(1)	22						c.(895-897)Gcc>Tcc		olfactory receptor, family 2, subfamily A, member 14							115.0	119.0	117.0					7																	143827100		1911	4119	6030	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143827100G>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.895G>T	7.37:g.143827100G>T	ENSP00000386137:p.Ala299Ser						p.A299S	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	950	+	Melanoma(164;0.0783)		299					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.895G>T	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189894	0.38707	.	.	ENSG00000221938	ENST00000408899	T	0.44482	0.92	4.18	4.18	0.49190	.	0.000000	0.32314	U	0.006271	T	0.51092	0.1654	M	0.74881	2.28	0.32212	N	0.576413	P	0.50066	0.931	P	0.49226	0.603	T	0.66767	-0.5840	10	0.72032	D	0.01	-10.5544	12.1908	0.54270	0.0:0.0:1.0:0.0	.	299	Q96R47	O2A14_HUMAN	S	299	ENSP00000386137:A299S	ENSP00000386137:A299S	A	+	1	0	OR2A14	143458033	0.367000	0.25023	0.441000	0.26858	0.009000	0.06853	1.078000	0.30754	2.303000	0.77524	0.561000	0.74099	GCC		0.512	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			6	88	1	0	0.00116845	1	0.00137844	6	88				
OR10J3	441911	broad.mit.edu	37	1	159283536	159283536	+	Missense_Mutation	SNP	C	C	T	rs369650761		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:159283536C>T	ENST00000332217.5	-	1	913	c.914G>A	c.(913-915)cGt>cAt	p.R305H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R305H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTTGCCCCACGGCTCTGTGC	0.428																																						ENST00000332217.5																			1	Substitution - Missense(1)	p.R305H(1)	lung(1)	breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(913-915)cGt>cAt		olfactory receptor, family 10, subfamily J, member 3		C	HIS/ARG	0,4406		0,0,2203	76.0	72.0	73.0		914	-10.4	0.0	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10J3	NM_001004467.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	305/330	159283536	1,13005	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283536C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.914G>A	1.37:g.159283536C>T	ENSP00000331789:p.Arg305His						p.R305H	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	913	-	all_hematologic(112;0.0429)		305						Missense_Mutation	SNP	ENST00000332217.5	37	c.914G>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	9.321	1.058110	0.19987	0.0	1.16E-4	ENSG00000196266	ENST00000332217	T	0.00538	6.71	5.21	-10.4	0.00318	.	2.411510	0.03146	N	0.167340	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.30937	0.301	B	0.12156	0.007	T	0.42749	-0.9433	10	0.72032	D	0.01	.	8.9281	0.35652	0.1832:0.6022:0.0818:0.1328	.	305	Q5JRS4	O10J3_HUMAN	H	305	ENSP00000331789:R305H	ENSP00000331789:R305H	R	-	2	0	OR10J3	157550160	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.570000	0.00112	-3.685000	0.00121	-1.004000	0.02495	CGT		0.428	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			12	68	0	0	0	1	0	12	68				
FAAH2	158584	broad.mit.edu	37	X	57358175	57358175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:57358175G>A	ENST00000374900.4	+	4	677	c.557G>A	c.(556-558)aGt>aAt	p.S186N		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	186						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TATGAATCCAGTAACAAGATC	0.433										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(556-558)aGt>aAt		fatty acid amide hydrolase 2							191.0	146.0	161.0					X																	57358175		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57358175G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.557G>A	X.37:g.57358175G>A	ENSP00000364035:p.Ser186Asn	HNSCC(52;0.14)					p.S186N	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			4	677	+			186					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.557G>A	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174565	0.09391	.	.	ENSG00000165591	ENST00000374900	T	0.56444	0.46	2.25	2.25	0.28309	Amidase signature domain (2);	0.203246	0.40640	U	0.001056	T	0.32164	0.0820	N	0.16233	0.39	0.23459	N	0.997639	B	0.12630	0.006	B	0.15870	0.014	T	0.16070	-1.0415	10	0.24483	T	0.36	.	9.8609	0.41114	0.0:0.0:1.0:0.0	.	186	Q6GMR7	FAAH2_HUMAN	N	186	ENSP00000364035:S186N	ENSP00000364035:S186N	S	+	2	0	FAAH2	57374900	1.000000	0.71417	0.979000	0.43373	0.866000	0.49608	4.217000	0.58547	0.844000	0.35094	0.415000	0.27848	AGT		0.433	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		8	33	0	0	0	1	0	8	33				
OR2B11	127623	broad.mit.edu	37	1	247614723	247614723	+	Missense_Mutation	SNP	C	C	A	rs147839044	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247614723C>A	ENST00000318749.6	-	1	585	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCTTGATCACGGCCGGCACC	0.582																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(562-564)Gtg>Ttg		olfactory receptor, family 2, subfamily B, member 11							60.0	61.0	61.0					1																	247614723		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614723C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.562G>T	1.37:g.247614723C>A	ENSP00000325682:p.Val188Leu						p.V188L	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	585	-	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;0.241)	188					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.562G>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.163081	0.00318	.	.	ENSG00000177535	ENST00000318749	T	0.00099	8.73	5.09	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.733388	0.12791	N	0.438836	T	0.00039	0.0001	N	0.00510	-1.415	0.21841	N	0.999519	B	0.02656	0.0	B	0.06405	0.002	T	0.40346	-0.9568	10	0.02654	T	1	.	1.0824	0.01645	0.1511:0.1677:0.1569:0.5243	.	188	Q5JQS5	OR2BB_HUMAN	L	188	ENSP00000325682:V188L	ENSP00000325682:V188L	V	-	1	0	OR2B11	245681346	0.000000	0.05858	0.998000	0.56505	0.014000	0.08584	-2.553000	0.00927	0.138000	0.18790	-1.047000	0.02352	GTG		0.582	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		6	38	1	0	3.59834e-05	1	4.79257e-05	6	38				
GPR98	84059	broad.mit.edu	37	5	89943405	89943405	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:89943405A>C	ENST00000405460.2	+	17	3209	c.3113A>C	c.(3112-3114)tAt>tCt	p.Y1038S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1038	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGTCCAGTATGCTACCAAG	0.448																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3112-3114)tAt>tCt		G protein-coupled receptor 98							171.0	161.0	164.0					5																	89943405		1952	4138	6090	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943405A>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3113A>C	5.37:g.89943405A>C	ENSP00000384582:p.Tyr1038Ser						p.Y1038S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3209	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1038					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3113A>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055811	0.36277	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.34472	1.36	5.5	2.98	0.34508	Na-Ca exchanger/integrin-beta4 (2);	0.054602	0.85682	D	0.000000	T	0.60856	0.2301	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63296	-0.6669	10	0.87932	D	0	.	7.6091	0.28120	0.8052:0.0:0.0699:0.1249	.	1038	Q8WXG9	GPR98_HUMAN	S	1038	ENSP00000384582:Y1038S	ENSP00000296619:Y1038S	Y	+	2	0	GPR98	89979161	1.000000	0.71417	0.026000	0.17262	0.008000	0.06430	5.675000	0.68123	0.863000	0.35553	0.533000	0.62120	TAT		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	42	0	0	0	1	0	7	42				
LRRIQ3	127255	broad.mit.edu	37	1	74649196	74649196	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:74649196G>C	ENST00000395089.1	-	1	172	c.173C>G	c.(172-174)tCa>tGa	p.S58*	LRRIQ3_ENST00000354431.4_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370911.3_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370909.2_Nonsense_Mutation_p.S58*			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	58										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAaattgtttgagaagatgca	0.313																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(172-174)tCa>tGa		leucine-rich repeats and IQ motif containing 3							52.0	54.0	53.0					1																	74649196		2201	4299	6500	SO:0001587	stop_gained	127255							g.chr1:74649196G>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.173C>G	1.37:g.74649196G>C	ENSP00000378524:p.Ser58*					LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370911.3_Nonsense_Mutation_p.S58*|LRRIQ3_ENST00000370909.2_Nonsense_Mutation_p.S58*	p.S58*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			2	364	-			58					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Nonsense_Mutation	SNP	ENST00000395089.1	37	c.173C>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635508	0.96682	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	.	.	.	5.06	5.06	0.68205	.	0.289012	0.25037	N	0.033637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.331	0.60488	0.0:0.1591:0.8409:0.0	.	.	.	.	X	58	.	ENSP00000346414:S58X	S	-	2	0	LRRIQ3	74421784	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.552000	0.60747	2.490000	0.84030	0.655000	0.94253	TCA		0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		6	50	0	0	0	1	0	6	50				
RAB38	23682	broad.mit.edu	37	11	87883022	87883022	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:87883022C>A	ENST00000243662.6	-	2	386	c.304G>T	c.(304-306)Gca>Tca	p.A102S		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	102					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCCACTTTGCCACTGCTTCA	0.448																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(304-306)Gca>Tca		RAB38, member RAS oncogene family							203.0	205.0	204.0					11																	87883022		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87883022C>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.304G>T	11.37:g.87883022C>A	ENSP00000243662:p.Ala102Ser						p.A102S	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			2	386	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	102					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.304G>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.544|6.544	0.468557|0.468557	0.12461|0.12461	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.76448|.	-1.02|.	5.38|5.38	3.22|3.22	0.36961|0.36961	Small GTP-binding protein domain (1);|.	0.244353|.	0.47852|.	D|.	0.000206|.	T|T	0.29749|0.29749	0.0743|0.0743	N|N	0.10618|0.10618	0.0049999999999999|0.0049999999999999	0.43698|0.43698	D|D	0.996156|0.996156	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.03717|0.03717	-1.1010|-1.1010	9|5	.|.	.|.	.|.	-20.9861|-20.9861	5.9258|5.9258	0.19112|0.19112	0.0:0.4232:0.0:0.5768|0.0:0.4232:0.0:0.5768	.|.	102|.	P57729|.	RAB38_HUMAN|.	S|V	102|100	ENSP00000243662:A102S|.	.|.	A|G	-|-	1|2	0|0	RAB38|RAB38	87522670|87522670	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.988000|0.988000	0.76386|0.76386	2.501000|2.501000	0.45389|0.45389	0.459000|0.459000	0.27016|0.27016	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.448	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			6	126	1	0	3.59834e-05	1	4.79257e-05	6	126				
NCAM2	4685	broad.mit.edu	37	21	22710816	22710816	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:22710816A>T	ENST00000400546.1	+	8	1255	c.1006A>T	c.(1006-1008)Aga>Tga	p.R336*	NCAM2_ENST00000535285.1_Nonsense_Mutation_p.R361*|NCAM2_ENST00000284894.7_Nonsense_Mutation_p.R194*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	336	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACTTGGAAAAGAGCTGTGGA	0.388																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1006-1008)Aga>Tga		neural cell adhesion molecule 2							64.0	61.0	62.0					21																	22710816		1909	4111	6020	SO:0001587	stop_gained	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22710816A>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1006A>T	21.37:g.22710816A>T	ENSP00000383392:p.Arg336*					NCAM2_ENST00000284894.7_Nonsense_Mutation_p.R194*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.R361*	p.R336*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	8	1255	+		Lung NSC(9;0.195)	336			Ig-like C2-type 4.		A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	37	c.1006A>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	39	7.332847	0.98217	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.5414	14.9656	0.71188	1.0:0.0:0.0:0.0	.	.	.	.	X	336;194;361	.	ENSP00000284894:R194X	R	+	1	2	NCAM2	21632687	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.807000	0.75201	2.209000	0.71365	0.482000	0.46254	AGA		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		7	19	0	0	0	1	0	7	19				
CPEB2	132864	broad.mit.edu	37	4	15063786	15063786	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:15063786A>G	ENST00000507071.1	+	10	1531	c.1444A>G	c.(1444-1446)Aaa>Gaa	p.K482E	RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000538197.1_Missense_Mutation_p.K927E|CPEB2_ENST00000345451.3_Missense_Mutation_p.K452E|CPEB2_ENST00000259997.5_Missense_Mutation_p.K490E|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.K900E|CPEB2_ENST00000382395.3_Missense_Mutation_p.K460E|CPEB2_ENST00000382401.3_Missense_Mutation_p.K455E|CPEB2_ENST00000541112.1_Missense_Mutation_p.K919E			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	482	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AAAATACCCAAAAGGTGCTGG	0.433																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2779-2781)Aaa>Gaa		cytoplasmic polyadenylation element binding protein 2							177.0	173.0	174.0					4																	15063786		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15063786A>G	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1444A>G	4.37:g.15063786A>G	ENSP00000424084:p.Lys482Glu					CPEB2_ENST00000345451.3_Missense_Mutation_p.K452E|CPEB2_ENST00000259997.5_Missense_Mutation_p.K490E|CPEB2_ENST00000382401.3_Missense_Mutation_p.K455E|CPEB2_ENST00000507071.1_Missense_Mutation_p.K482E|CPEB2_ENST00000442003.2_Missense_Mutation_p.K900E|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.K460E|CPEB2_ENST00000541112.1_Missense_Mutation_p.K919E|RP11-665G4.1_ENST00000502344.1_RNA	p.K927E	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			11	2779	+			482					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.2779A>G		.	.	.	.	.	.	.	.	.	.	A	27.6	4.847762	0.91277	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1	4.99	4.99	0.66335	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D	0.76494	0.99;0.999;0.999;0.999;0.999;0.994	D;D;D;D;D;D	0.85130	0.979;0.996;0.997;0.995;0.997;0.977	T	0.14896	-1.0456	10	0.87932	D	0	-12.8266	14.685	0.69042	1.0:0.0:0.0:0.0	.	455;460;900;927;452;482	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	E	927;919;900;482;452;460;455;490;469;135	ENSP00000443985:K927E;ENSP00000437884:K919E;ENSP00000414270:K900E;ENSP00000424084:K482E;ENSP00000334058:K452E;ENSP00000371832:K460E;ENSP00000371838:K455E;ENSP00000259997:K490E;ENSP00000423890:K135E	ENSP00000259997:K490E	K	+	1	0	CPEB2	14672884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.868000	0.54150	0.533000	0.62120	AAA		0.433	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		16	107	0	0	0	1	0	16	107				
CYP7B1	9420	broad.mit.edu	37	8	65509309	65509309	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:65509309C>A	ENST00000310193.3	-	6	1584	c.1411G>T	c.(1411-1413)Gat>Tat	p.D471Y	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	471					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATTTCTAAATCAAAATAAGTT	0.333																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1411-1413)Gat>Tat		cytochrome P450, family 7, subfamily B, polypeptide 1							48.0	51.0	50.0					8																	65509309		2202	4300	6502	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65509309C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1411G>T	8.37:g.65509309C>A	ENSP00000310721:p.Asp471Tyr					CYP7B1_ENST00000523954.1_Intron	p.D471Y	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			6	1584	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	471					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.1411G>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474288	0.84640	.	.	ENSG00000172817	ENST00000310193	D	0.87491	-2.26	5.55	5.55	0.83447	.	0.207530	0.44902	D	0.000401	D	0.93344	0.7878	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93653	0.6975	10	0.87932	D	0	-18.1071	19.5081	0.95127	0.0:1.0:0.0:0.0	.	471	O75881	CP7B1_HUMAN	Y	471	ENSP00000310721:D471Y	ENSP00000310721:D471Y	D	-	1	0	CYP7B1	65671863	1.000000	0.71417	0.998000	0.56505	0.779000	0.44077	7.818000	0.86416	2.601000	0.87937	0.563000	0.77884	GAT		0.333	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			13	31	1	0	5.50884e-06	1	7.75287e-06	13	31				
ERGIC2	51290	broad.mit.edu	37	12	29514589	29514589	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:29514589T>A	ENST00000360150.4	-	6	438	c.363A>T	c.(361-363)aaA>aaT	p.K121N		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	121					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					TCTGCCACTCTTTCTGCTGTG	0.294																																						ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(361-363)aaA>aaT		ERGIC and golgi 2	Arsenic trioxide(DB01169)						145.0	144.0	145.0					12																	29514589		1829	4086	5915	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29514589T>A	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.363A>T	12.37:g.29514589T>A	ENSP00000353270:p.Lys121Asn						p.K121N	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			6	438	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		121					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.363A>T	CCDS41765.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.962055	0.53400	.	.	ENSG00000087502	ENST00000360150;ENST00000201023;ENST00000552155;ENST00000546839;ENST00000550353;ENST00000552132	.	.	.	5.81	3.5	0.40072	.	0.320980	0.41097	D	0.000954	T	0.28797	0.0714	L	0.43152	1.355	0.31941	N	0.610975	P	0.39576	0.679	B	0.34824	0.19	T	0.34304	-0.9834	9	0.35671	T	0.21	.	6.2927	0.21069	0.0:0.26:0.0:0.74	.	121	Q96RQ1	ERGI2_HUMAN	N	121;129;121;121;103;121	.	ENSP00000201023:K129N	K	-	3	2	ERGIC2	29405856	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	1.601000	0.36773	1.040000	0.40099	0.482000	0.46254	AAA		0.294	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		6	63	0	0	0	1	0	6	63				
S1PR1	1901	broad.mit.edu	37	1	101705599	101705599	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:101705599C>T	ENST00000305352.6	+	2	1434	c.1059C>T	c.(1057-1059)agC>agT	p.S353S		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	353					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCAGCCGCAGCAAATCGGACA	0.547																																						ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(1057-1059)agC>agT		sphingosine-1-phosphate receptor 1							63.0	67.0	66.0					1																	101705599		2198	4288	6486	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705599C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.1059C>T	1.37:g.101705599C>T							p.S353S	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1434	+			353					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.1059C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684405	0.14907	.	.	ENSG00000170989	ENST00000424264	.	.	.	5.24	-1.43	0.08884	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53415	-0.8442	5	0.40728	T	0.16	.	11.2612	0.49085	0.0:0.4597:0.0:0.5403	.	.	.	.	V	336	.	ENSP00000413066:A336V	A	+	2	0	S1PR1	101478187	0.999000	0.42202	0.997000	0.53966	0.952000	0.60782	0.561000	0.23515	-0.204000	0.10235	0.305000	0.20034	GCA		0.547	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		11	61	0	0	0	1	0	11	61				
ZIC3	7547	broad.mit.edu	37	X	136649480	136649480	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:136649480C>G	ENST00000287538.5	+	1	1180	c.630C>G	c.(628-630)taC>taG	p.Y210*	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Nonsense_Mutation_p.Y210*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	210					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGACCCCTACGCGGCCGGCG	0.662																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(628-630)taC>taG		Zic family member 3							21.0	24.0	23.0					X																	136649480		2162	4204	6366	SO:0001587	stop_gained	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649480C>G	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.630C>G	X.37:g.136649480C>G	ENSP00000287538:p.Tyr210*					ZIC3_ENST00000370606.3_Nonsense_Mutation_p.Y210*	p.Y210*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1180	+	Acute lymphoblastic leukemia(192;0.000127)		210					B2CNW4|Q14DE5|Q5JY75	Nonsense_Mutation	SNP	ENST00000287538.5	37	c.630C>G	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	40	8.109959	0.98659	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	.	.	.	4.58	-2.47	0.06442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2436	0.48982	0.0:0.3962:0.0:0.6038	.	.	.	.	X	210	.	ENSP00000287538:Y210X	Y	+	3	2	ZIC3	136477146	0.745000	0.28261	0.845000	0.33349	0.971000	0.66376	0.142000	0.16096	-0.662000	0.05338	-0.891000	0.02926	TAC		0.662	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	20	0	0	0	1	0	4	20				
PAPPA2	60676	broad.mit.edu	37	1	176526028	176526028	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:176526028G>A	ENST00000367662.3	+	2	1734	c.570G>A	c.(568-570)agG>agA	p.R190R	PAPPA2_ENST00000367661.3_Silent_p.R190R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	190					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAAAGGAGGGGCTGGGCCA	0.587																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(568-570)agG>agA		pappalysin 2							102.0	107.0	105.0					1																	176526028		1993	4161	6154	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526028G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.570G>A	1.37:g.176526028G>A						PAPPA2_ENST00000367661.3_Silent_p.R190R	p.R190R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1734	+			190					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.570G>A	CCDS41438.1																																																																																				0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			10	76	0	0	0	1	0	10	76				
TENM3	55714	broad.mit.edu	37	4	183659646	183659646	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:183659646A>T	ENST00000511685.1	+	18	3451	c.3328A>T	c.(3328-3330)Aac>Tac	p.N1110Y	TENM3_ENST00000406950.2_Missense_Mutation_p.N1110Y|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1110					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGATGCGTCCAACATGGGTGG	0.443																																						ENST00000511685.1																			0											c.(3328-3330)Aac>Tac		teneurin transmembrane protein 3							220.0	214.0	216.0					4																	183659646		1980	4165	6145	SO:0001583	missense	55714							g.chr4:183659646A>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3328A>T	4.37:g.183659646A>T	ENSP00000424226:p.Asn1110Tyr					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.N1110Y	p.N1110Y							18	3451	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3328A>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508785	0.85282	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86694	-2.16;-2.16	5.35	5.35	0.76521	.	.	.	.	.	D	0.91429	0.7295	M	0.75264	2.295	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	D	0.92368	0.5903	9	0.66056	D	0.02	.	15.5001	0.75691	1.0:0.0:0.0:0.0	.	1110	Q9P273	TEN3_HUMAN	Y	1110	ENSP00000424226:N1110Y;ENSP00000385276:N1110Y	ENSP00000385276:N1110Y	N	+	1	0	ODZ3	183896640	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	9.139000	0.94554	2.250000	0.74265	0.533000	0.62120	AAC		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	72	0	0	0	1	0	15	72				
MUC16	94025	broad.mit.edu	37	19	9009597	9009597	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9009597C>A	ENST00000397910.4	-	39	39332	c.39129G>T	c.(39127-39129)ctG>ctT	p.L13043L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13045	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						CCAGACCCTGCAGGACCCTCT	0.552																																						ENST00000397910.4																			0				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						c.(39127-39129)ctG>ctT		mucin 16, cell surface associated							185.0	154.0	164.0					19																	9009597		2008	4172	6180	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009597C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39129G>T	19.37:g.9009597C>A							p.L13043L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			39	39332	-			13045			SEA 7.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39129G>T	CCDS54212.1																																																																																				0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	81	1	0	0.0167234	1	0.0180173	14	81				
CCR4	1233	broad.mit.edu	37	3	32995458	32995458	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:32995458C>A	ENST00000330953.5	+	2	712	c.544C>A	c.(544-546)Cgc>Agc	p.R182S		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	182					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTATACTGAGCGCAACCATAC	0.498																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(544-546)Cgc>Agc		chemokine (C-C motif) receptor 4							144.0	127.0	133.0					3																	32995458		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995458C>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.544C>A	3.37:g.32995458C>A	ENSP00000332659:p.Arg182Ser						p.R182S	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	712	+			182					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.544C>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	6.982	0.551308	0.13374	.	.	ENSG00000183813	ENST00000330953	T	0.71103	-0.54	5.95	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	1.540940	0.03442	N	0.209388	T	0.42966	0.1226	N	0.02379	-0.575	0.22017	N	0.99941	B	0.18461	0.028	B	0.19666	0.026	T	0.40270	-0.9572	10	0.18710	T	0.47	.	2.5284	0.04696	0.25:0.3989:0.2235:0.1277	.	182	P51679	CCR4_HUMAN	S	182	ENSP00000332659:R182S	ENSP00000332659:R182S	R	+	1	0	CCR4	32970462	0.042000	0.20092	0.993000	0.49108	0.708000	0.40852	0.296000	0.19083	0.782000	0.33613	0.655000	0.94253	CGC		0.498	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			12	66	1	0	2.80697e-09	1	4.52563e-09	12	66				
FREM2	341640	broad.mit.edu	37	13	39451320	39451320	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:39451320C>A	ENST00000280481.7	+	21	8827	c.8611C>A	c.(8611-8613)Ctc>Atc	p.L2871I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2871					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAAGAAGAGTCTCTGGTTGTC	0.433																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8611-8613)Ctc>Atc		FRAS1 related extracellular matrix protein 2							335.0	298.0	311.0					13																	39451320		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451320C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8611C>A	13.37:g.39451320C>A	ENSP00000280481:p.Leu2871Ile						p.L2871I	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8827	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2871					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8611C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791220	0.70452	.	.	ENSG00000150893	ENST00000280481	T	0.66460	-0.21	5.92	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	M	0.79258	2.445	0.53688	D	0.999976	P	0.45594	0.862	P	0.51324	0.666	T	0.75218	-0.3395	10	0.48119	T	0.1	.	9.7973	0.40742	0.141:0.7899:0.0:0.0691	.	2871	Q5SZK8	FREM2_HUMAN	I	2871	ENSP00000280481:L2871I	ENSP00000280481:L2871I	L	+	1	0	FREM2	38349320	0.927000	0.31430	1.000000	0.80357	0.995000	0.86356	2.023000	0.41040	1.489000	0.48450	0.467000	0.42956	CTC		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		18	138	1	0	1.99824e-07	1	3.05554e-07	18	138				
TNN	63923	broad.mit.edu	37	1	175105997	175105997	+	Silent	SNP	G	G	A	rs369876797		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:175105997G>A	ENST00000239462.4	+	17	3581	c.3468G>A	c.(3466-3468)gcG>gcA	p.A1156A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1156	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.		A -> V (in dbSNP:rs2072036).		axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A1156A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTCCAGCGCGGTATGAGG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19750	0.0		0.0	False		,,,				2504	0.001					ENST00000239462.4																			1	Substitution - coding silent(1)	p.A1156A(1)	urinary_tract(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3466-3468)gcG>gcA		tenascin N		G		0,4406		0,0,2203	84.0	78.0	80.0		3468	0.1	0.0	1		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNN	NM_022093.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1156/1300	175105997	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105997G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3468G>A	1.37:g.175105997G>A							p.A1156A	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	17	3581	+		Breast(1374;0.000962)	1156		A -> V (in dbSNP:rs2072036).	Fibrinogen C-terminal.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.3468G>A	CCDS30943.1																																																																																				0.453	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	30	0	0	0	1	0	3	30				
OR5M11	219487	broad.mit.edu	37	11	56310644	56310644	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56310644C>A	ENST00000528616.2	-	1	113	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	30						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(2)|large_intestine(1)|lung(14)	18						CAACCAGAAACAGCACAAAAA	0.473																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(88-90)ctG>ctT		olfactory receptor, family 5, subfamily M, member 11							111.0	111.0	111.0					11																	56310644		2057	4222	6279	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310644C>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.90G>T	11.37:g.56310644C>A							p.L30L	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	113	-			30					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.90G>T	CCDS53629.1																																																																																				0.473	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		15	70	1	0	2.32078e-09	1	3.75493e-09	15	70				
GABRB1	2560	broad.mit.edu	37	4	47427970	47427970	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:47427970C>G	ENST00000295454.3	+	9	1652	c.1360C>G	c.(1360-1362)Cga>Gga	p.R454G	GABRB1_ENST00000538619.1_Missense_Mutation_p.R384G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	454					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAAGTGGTCCCGAATGTTTTT	0.483																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1360-1362)Cga>Gga		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						112.0	108.0	110.0					4																	47427970		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427970C>G		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1360C>G	4.37:g.47427970C>G	ENSP00000295454:p.Arg454Gly					GABRB1_ENST00000538619.1_Missense_Mutation_p.R384G	p.R454G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1652	+			454					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1360C>G	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367000	0.61513	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.88277	-2.36;-2.36	5.34	3.42	0.39159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.074471	0.48286	D	0.000199	D	0.95284	0.8470	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.95764	0.8803	10	0.87932	D	0	-8.9251	11.8232	0.52252	0.5421:0.4579:0.0:0.0	.	384;454	F5GXV5;P18505	.;GBRB1_HUMAN	G	454;384	ENSP00000295454:R454G;ENSP00000440330:R384G	ENSP00000295454:R454G	R	+	1	2	GABRB1	47122727	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.470000	0.35354	1.437000	0.47472	0.650000	0.86243	CGA		0.483	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			7	67	0	0	0	1	0	7	67				
FOXJ2	55810	broad.mit.edu	37	12	8202111	8202111	+	Missense_Mutation	SNP	G	G	A	rs143592450	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:8202111G>A	ENST00000162391.3	+	9	2626	c.1481G>A	c.(1480-1482)cGt>cAt	p.R494H	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R494H	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	494					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCCCCTGCCCGTATTGCTGAC	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1480-1482)cGt>cAt		forkhead box J2		G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	58.0	47.0	51.0		1481	5.9	1.0	12	dbSNP_134	51	0,8600		0,0,4300	yes	missense	FOXJ2	NM_018416.2	29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	494/575	8202111	5,13001	2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8202111G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1481G>A	12.37:g.8202111G>A	ENSP00000162391:p.Arg494His					FOXJ2_ENST00000428177.2_Missense_Mutation_p.R494H	p.R494H	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	9	2626	+			494					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1481G>A	CCDS8587.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.6	4.658208	0.88154	0.001135	0.0	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94897	-3.32;-3.55	5.86	5.86	0.93980	.	0.365742	0.23382	N	0.048791	D	0.96147	0.8744	L	0.47716	1.5	0.41935	D	0.990588	D;D	0.89917	0.999;1.0	D;D	0.83275	0.987;0.996	D	0.95780	0.8816	10	0.48119	T	0.1	.	17.6803	0.88241	0.0:0.0:1.0:0.0	.	494;494	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	H	494	ENSP00000162391:R494H;ENSP00000403411:R494H	ENSP00000162391:R494H	R	+	2	0	FOXJ2	8093378	1.000000	0.71417	0.971000	0.41717	0.849000	0.48306	6.473000	0.73572	2.775000	0.95449	0.655000	0.94253	CGT		0.577	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		10	28	0	0	0	1	0	10	28				
IL1RAPL2	26280	broad.mit.edu	37	X	104984617	104984617	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:104984617G>A	ENST00000372582.1	+	8	1737	c.981G>A	c.(979-981)gcG>gcA	p.A327A	IL1RAPL2_ENST00000344799.4_Silent_p.A327A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	327	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGACCTGGCGAATTATACCT	0.388																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(979-981)gcG>gcA		interleukin 1 receptor accessory protein-like 2							71.0	65.0	67.0					X																	104984617		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984617G>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.981G>A	X.37:g.104984617G>A						IL1RAPL2_ENST00000344799.4_Silent_p.A327A	p.A327A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			8	1737	+			327			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.981G>A	CCDS14517.1																																																																																				0.388	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		9	24	0	0	0	1	0	9	24				
PCDHB12	56124	broad.mit.edu	37	5	140590744	140590744	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140590744G>C	ENST00000239450.2	+	1	2454	c.2265G>C	c.(2263-2265)gtG>gtC	p.V755V	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Silent_p.V418V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	755					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(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGTGTGTGACTGGAGGCT	0.542																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2263-2265)gtG>gtC									76.0	78.0	77.0					5																	140590744		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590744G>C	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2265G>C	5.37:g.140590744G>C						PCDHB12_ENST00000541609.1_Silent_p.V418V	p.V755V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2454	+			755					B4DDU1	Silent	SNP	ENST00000239450.2	37	c.2265G>C	CCDS4254.1																																																																																				0.542	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		14	80	0	0	0	1	0	14	80				
TDO2	6999	broad.mit.edu	37	4	156825226	156825226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156825226G>C	ENST00000536354.2	+	2	156	c.92G>C	c.(91-93)gGt>gCt	p.G31A		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TCACAAACTGGTGTGAATAGA	0.403																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(91-93)gGt>gCt		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						93.0	92.0	92.0					4																	156825226		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156825226G>C		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.92G>C	4.37:g.156825226G>C	ENSP00000444788:p.Gly31Ala						p.G31A	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	2	156	+	all_hematologic(180;0.24)	Renal(120;0.0854)	31						Missense_Mutation	SNP	ENST00000536354.2	37	c.92G>C	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347699	0.61183	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	L	0.35542	1.07	0.80722	D	1	B	0.25351	0.124	B	0.27796	0.083	T	0.48917	-0.8992	9	0.30078	T	0.28	-13.1149	19.5862	0.95490	0.0:0.0:1.0:0.0	.	31	P48775	T23O_HUMAN	A	31	.	ENSP00000281525:G31A	G	+	2	0	TDO2	157044676	1.000000	0.71417	0.995000	0.50966	0.874000	0.50279	7.362000	0.79507	2.641000	0.89580	0.650000	0.86243	GGT		0.403	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		4	28	0	0	0	1	0	4	28				
SPTA1	6708	broad.mit.edu	37	1	158651364	158651364	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:158651364G>T	ENST00000368147.4	-	4	664	c.484C>A	c.(484-486)Cag>Aag	p.Q162K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	162					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTACATACTGCTGGAACTTC	0.542																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(484-486)Cag>Aag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							210.0	213.0	212.0					1																	158651364		2033	4194	6227	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651364G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.484C>A	1.37:g.158651364G>T	ENSP00000357129:p.Gln162Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.Q162K	p.Q162K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			4	664	-	all_hematologic(112;0.0378)		162					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.484C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027655	0.35797	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50548	0.74;0.74	5.15	4.22	0.49857	.	.	.	.	.	T	0.29620	0.0739	M	0.62723	1.935	0.44619	D	0.997595	B	0.15141	0.012	B	0.23852	0.049	T	0.14896	-1.0456	9	0.25106	T	0.35	.	13.3425	0.60553	0.0:0.0:0.8279:0.1721	.	162	P02549	SPTA1_HUMAN	K	162	ENSP00000357130:Q162K;ENSP00000357129:Q162K	ENSP00000357129:Q162K	Q	-	1	0	SPTA1	156917988	1.000000	0.71417	0.741000	0.31004	0.143000	0.21401	5.826000	0.69293	1.322000	0.45245	0.563000	0.77884	CAG		0.542	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		16	130	1	0	1.15088e-07	1	1.7657e-07	16	130				
MMP27	64066	broad.mit.edu	37	11	102563717	102563717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:102563717G>C	ENST00000260229.4	-	9	1340	c.1249C>G	c.(1249-1251)Cac>Gac	p.H417D		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	417					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CCAGGAAAGTGTTTTACCACT	0.438																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1249-1251)Cac>Gac		matrix metallopeptidase 27							217.0	202.0	207.0					11																	102563717		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102563717G>C	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1249C>G	11.37:g.102563717G>C	ENSP00000260229:p.His417Asp						p.H417D	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	9	1340	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	417			Hemopexin-like 3.		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.1249C>G	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.860215	0.00064	.	.	ENSG00000137675	ENST00000260229	T	0.02158	4.42	4.9	0.369	0.16151	Hemopexin/matrixin (2);	0.842466	0.09908	U	0.740161	T	0.00637	0.0021	N	0.00278	-1.715	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47661	-0.9100	10	0.12430	T	0.62	.	5.9139	0.19043	0.3888:0.2252:0.386:0.0	.	417	Q9H306	MMP27_HUMAN	D	417	ENSP00000260229:H417D	ENSP00000260229:H417D	H	-	1	0	MMP27	102068927	0.000000	0.05858	0.040000	0.18447	0.008000	0.06430	0.293000	0.19029	0.143000	0.18926	-0.143000	0.13931	CAC		0.438	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		15	63	0	0	0	1	0	15	63				
WAC	51322	broad.mit.edu	37	10	28905190	28905190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:28905190G>C	ENST00000354911.4	+	12	1806	c.1645G>C	c.(1645-1647)Gcc>Ccc	p.A549P	WAC_ENST00000375646.1_Missense_Mutation_p.A397P|WAC_ENST00000347934.4_Missense_Mutation_p.A446P|WAC_ENST00000375664.4_Missense_Mutation_p.A504P	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	549					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GAATTCTTCTGCCCGATCCAC	0.438																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1510-1512)Gcc>Ccc		WW domain containing adaptor with coiled-coil							156.0	135.0	142.0					10																	28905190		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28905190G>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1645G>C	10.37:g.28905190G>C	ENSP00000346986:p.Ala549Pro					WAC_ENST00000347934.4_Missense_Mutation_p.A446P|WAC_ENST00000375646.1_Missense_Mutation_p.A397P|WAC_ENST00000354911.4_Missense_Mutation_p.A549P	p.A504P			Q9BTA9	WAC_HUMAN			12	2119	+			549					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1510G>C	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463056	0.63513	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.36	3.35	0.38373	.	0.246524	0.46442	D	0.000286	T	0.36248	0.0960	N	0.24115	0.695	0.80722	D	1	B;P;B	0.49559	0.001;0.925;0.0	B;P;B	0.44990	0.006;0.466;0.002	T	0.15521	-1.0434	10	0.41790	T	0.15	-2.7059	11.7463	0.51821	0.1618:0.0:0.8382:0.0	.	504;446;549	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	P	504;397;446;549	ENSP00000364816:A504P;ENSP00000364797:A397P;ENSP00000311106:A446P;ENSP00000346986:A549P	ENSP00000311106:A446P	A	+	1	0	WAC	28945196	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	2.494000	0.45329	1.265000	0.44215	0.655000	0.94253	GCC		0.438	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		6	58	0	0	0	1	0	6	58				
SYNPO2	171024	broad.mit.edu	37	4	119951385	119951385	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:119951385A>G	ENST00000429713.2	+	4	1637	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Silent_p.P485P|SYNPO2_ENST00000434046.2_Silent_p.P485P	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	485						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATGTTACCAGACACCACAG	0.488																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1453-1455)ccA>ccG		synaptopodin 2							93.0	89.0	91.0					4																	119951385		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951385A>G	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1455A>G	4.37:g.119951385A>G						SYNPO2_ENST00000429713.2_Silent_p.P485P|SYNPO2_ENST00000434046.2_Silent_p.P485P|SYNPO2_ENST00000448416.2_Intron	p.P485P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	1651	+			485					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.1455A>G	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	A	6.173	0.400077	0.11696	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.55	-7.06	0.01568	.	.	.	.	.	T	0.36082	0.0954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-15.6779	2.8589	0.05580	0.2805:0.307:0.311:0.1015	.	.	.	.	G	437	.	.	R	+	1	2	SYNPO2	120170833	0.998000	0.40836	0.897000	0.35233	0.862000	0.49288	0.740000	0.26188	-1.327000	0.02264	-1.247000	0.01520	AGA		0.488	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			5	22	0	0	0	1	0	5	22				
ZMAT4	79698	broad.mit.edu	37	8	40532265	40532265	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:40532265A>G	ENST00000297737.6	-	5	681	c.535T>C	c.(535-537)Tta>Cta	p.L179L	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	179						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTTGTTCTAACAAAGCAACT	0.483																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(535-537)Tta>Cta		zinc finger, matrin-type 4							163.0	150.0	154.0					8																	40532265		2203	4300	6503	SO:0001819	synonymous_variant	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532265A>G	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.535T>C	8.37:g.40532265A>G						ZMAT4_ENST00000315769.7_Intron	p.L179L	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	681	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	179					Q8WUT8	Silent	SNP	ENST00000297737.6	37	c.535T>C	CCDS34885.1																																																																																				0.483	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		9	126	0	0	0	1	0	9	126				
STXBP1	6812	broad.mit.edu	37	9	130413919	130413919	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:130413919G>T	ENST00000373299.1	+	2	190	c.75G>T	c.(73-75)aaG>aaT	p.K25N	STXBP1_ENST00000373302.3_Missense_Mutation_p.K25N	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	25					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAAGAAGAAGGGGGAATGGA	0.403																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(73-75)aaG>aaT		syntaxin binding protein 1							157.0	156.0	156.0					9																	130413919		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130413919G>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.75G>T	9.37:g.130413919G>T	ENSP00000362396:p.Lys25Asn					STXBP1_ENST00000373299.1_Missense_Mutation_p.K25N	p.K25N	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			2	214	+			25					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.75G>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985443	0.35036	.	.	ENSG00000136854	ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.79940	-1.32;-1.32	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	L	0.31476	0.935	0.58432	D	0.999999	B;B	0.17038	0.007;0.02	B;B	0.18263	0.005;0.021	T	0.61637	-0.7022	10	0.19147	T	0.46	-1.3341	9.892	0.41296	0.0929:0.0:0.9071:0.0	.	25;25	P61764;P61764-2	STXB1_HUMAN;.	N	25	ENSP00000362399:K25N;ENSP00000362396:K25N	ENSP00000362396:K25N	K	+	3	2	STXBP1	129453740	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.084000	0.64462	2.441000	0.82636	0.585000	0.79938	AAG		0.403	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		5	19	1	0	1.23904e-05	1	1.68943e-05	5	19				
G6PC2	57818	broad.mit.edu	37	2	169763289	169763289	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:169763289G>C	ENST00000375363.3	+	4	648	c.556G>C	c.(556-558)Ggc>Cgc	p.G186R	G6PC2_ENST00000429379.2_Intron|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_Intron|G6PC2_ENST00000421979.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	186					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AGTAATTGGTGGTAAATATGA	0.358																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.e4+1		glucose-6-phosphatase, catalytic, 2							146.0	134.0	138.0					2																	169763289		2203	4300	6503	SO:0001630	splice_region_variant	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169763289G>C	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.556+1G>C	2.37:g.169763289G>C						G6PC2_ENST00000461586.1_Intron|G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000421979.1_Intron|SPC25_ENST00000472216.2_Intron	p.G186_splice	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			4	648	+			186					E9PAX2|Q6AHZ0	Splice_Site	SNP	ENST00000375363.3	37	c.556_splice	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048084	0.93740	.	.	ENSG00000152254	ENST00000375363	D	0.87412	-2.25	5.9	5.9	0.94986	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.95490	0.8535	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95728	0.8772	10	0.87932	D	0	-23.1617	20.3127	0.98645	0.0:0.0:1.0:0.0	.	186	Q9NQR9	G6PC2_HUMAN	R	186	ENSP00000364512:G186R	ENSP00000364512:G186R	G	+	1	0	G6PC2	169471535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.424000	0.80242	2.794000	0.96219	0.644000	0.83932	GGC		0.358	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176	Missense_Mutation	5	59	0	0	0	1	0	5	59				
CARD9	64170	broad.mit.edu	37	9	139264312	139264312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:139264312C>A	ENST00000371732.5	-	7	1132	c.967G>T	c.(967-969)Gag>Tag	p.E323*	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Nonsense_Mutation_p.E323*|CARD9_ENST00000371734.3_Nonsense_Mutation_p.E323*	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	323					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TCGAACATCTCCTTCTCCTCC	0.622																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(967-969)Gag>Tag		caspase recruitment domain family, member 9							111.0	83.0	92.0					9																	139264312		2201	4300	6501	SO:0001587	stop_gained	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139264312C>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.967G>T	9.37:g.139264312C>A	ENSP00000360797:p.Glu323*					CARD9_ENST00000371734.3_Nonsense_Mutation_p.E323*|CARD9_ENST00000315908.7_Nonsense_Mutation_p.E323*	p.E323*	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	7	1132	-		Myeloproliferative disorder(178;0.0511)	323					Q5SXM5|Q5SXM6|Q9H854	Nonsense_Mutation	SNP	ENST00000371732.5	37	c.967G>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	C	37	6.489859	0.97607	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	.	.	.	3.9	3.9	0.45041	.	0.067368	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-34.2162	15.0355	0.71744	0.0:1.0:0.0:0.0	.	.	.	.	X	323	.	ENSP00000323719:E323X	E	-	1	0	CARD9	138384133	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.383000	0.59600	2.011000	0.59026	0.462000	0.41574	GAG		0.622	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		3	19	1	0	6.4e-05	1	8.33271e-05	3	19				
OR5D13	390142	broad.mit.edu	37	11	55540934	55540934	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55540934T>A	ENST00000361760.1	+	1	21	c.21T>A	c.(19-21)aaT>aaA	p.N7K		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	7						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTGAAAGAAATCAAAGCAGCA	0.378																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(19-21)aaT>aaA		olfactory receptor, family 5, subfamily D, member 13							93.0	95.0	94.0					11																	55540934		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55540934T>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.21T>A	11.37:g.55540934T>A	ENSP00000354800:p.Asn7Lys						p.N7K	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	21	+		all_epithelial(135;0.196)	7					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.21T>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505256	0.44558	.	.	ENSG00000198877	ENST00000361760	T	0.02158	4.42	3.43	0.791	0.18619	.	0.000000	0.33732	U	0.004601	T	0.11793	0.0287	M	0.91406	3.205	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.04635	-1.0937	10	0.87932	D	0	-4.6025	5.5815	0.17252	0.0:0.5764:0.0:0.4236	.	7	Q8NGL4	OR5DD_HUMAN	K	7	ENSP00000354800:N7K	ENSP00000354800:N7K	N	+	3	2	OR5D13	55297510	0.027000	0.19231	0.001000	0.08648	0.003000	0.03518	-0.588000	0.05774	0.016000	0.14998	0.398000	0.26397	AAT		0.378	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		14	80	0	0	0	1	0	14	80				
GRIA1	2890	broad.mit.edu	37	5	153077648	153077648	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:153077648C>A	ENST00000285900.5	+	9	1522	c.1179C>A	c.(1177-1179)acC>acA	p.T393T	GRIA1_ENST00000521843.2_Silent_p.T324T|GRIA1_ENST00000518142.1_Silent_p.T313T|GRIA1_ENST00000340592.5_Silent_p.T393T|GRIA1_ENST00000448073.4_Silent_p.T403T|GRIA1_ENST00000518783.1_Silent_p.T403T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	393					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTGCAGCCACCGATGCCCAAG	0.488																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1177-1179)acC>acA		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						98.0	91.0	93.0					5																	153077648		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153077648C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1179C>A	5.37:g.153077648C>A						GRIA1_ENST00000340592.5_Silent_p.T393T|GRIA1_ENST00000521843.2_Silent_p.T324T|GRIA1_ENST00000448073.4_Silent_p.T403T|GRIA1_ENST00000518783.1_Silent_p.T403T|GRIA1_ENST00000518142.1_Silent_p.T313T	p.T393T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1522	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	393					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1179C>A	CCDS4322.1																																																																																				0.488	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	39	1	0	2.56e-06	1	3.676e-06	4	39				
HMCN1	83872	broad.mit.edu	37	1	186072767	186072767	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:186072767A>G	ENST00000271588.4	+	69	10966	c.10737A>G	c.(10735-10737)ggA>ggG	p.G3579G	HMCN1_ENST00000367492.2_Silent_p.G3579G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3579	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAACTCTAGGAGGAGGAGAGG	0.433																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10735-10737)ggA>ggG		hemicentin 1							59.0	61.0	60.0					1																	186072767		2203	4299	6502	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186072767A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10737A>G	1.37:g.186072767A>G						HMCN1_ENST00000367492.2_Silent_p.G3579G	p.G3579G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			69	10966	+			3579			Ig-like C2-type 34.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.10737A>G	CCDS30956.1																																																																																				0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	51	0	0	0	1	0	8	51				
CUBN	8029	broad.mit.edu	37	10	16957976	16957976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:16957976G>A	ENST00000377833.4	-	46	7119	c.7054C>T	c.(7054-7056)Cat>Tat	p.H2352Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2352	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTGTTGGATGTCCAATGCTT	0.408																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7054-7056)Cat>Tat		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						104.0	106.0	105.0					10																	16957976		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957976G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7054C>T	10.37:g.16957976G>A	ENSP00000367064:p.His2352Tyr						p.H2352Y	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			46	7119	-			2352			CUB 17.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7054C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	2.643	-0.283630	0.05642	.	.	ENSG00000107611	ENST00000377833	T	0.09350	2.99	5.47	4.35	0.52113	CUB (5);	0.174968	0.27627	N	0.018522	T	0.01730	0.0055	N	0.00064	-2.31	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39210	-0.9625	10	0.02654	T	1	.	10.7248	0.46061	0.9239:0.0:0.0761:0.0	.	2352	O60494	CUBN_HUMAN	Y	2352	ENSP00000367064:H2352Y	ENSP00000367064:H2352Y	H	-	1	0	CUBN	16997982	0.909000	0.30893	0.089000	0.20774	0.012000	0.07955	3.947000	0.56652	0.946000	0.37632	-0.323000	0.08544	CAT		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	70	0	0	0	1	0	7	70				
AMPH	273	broad.mit.edu	37	7	38471787	38471787	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:38471787A>G	ENST00000356264.2	-	13	1374		c.e13+1		AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Splice_Site|AMPH_ENST00000428293.2_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTAGTGGCTTACCGTCCATAG	0.323																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.e13+1		amphiphysin							106.0	109.0	108.0					7																	38471787		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471787A>G		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1158+1T>C	7.37:g.38471787A>G						AMPH_ENST00000325590.5_Splice_Site|AMPH_ENST00000428293.2_Splice_Site		NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			13	1374	-								A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37		CCDS5456.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130376	0.77549	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000441628	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6977	0.77512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMPH	38438312	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.297000	0.72757	2.112000	0.64535	0.533000	0.62120	.		0.323	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Intron	4	20	0	0	0	1	0	4	20				
HERC2P3	283755	broad.mit.edu	37	15	20658887	20658887	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:20658887C>T	ENST00000428453.1	-	0	1979							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TATCGATTCCCTCAGGAATAA	0.363																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															52.0	58.0	56.0					15																	20658887		2149	4231	6380			283755							g.chr15:20658887C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20658887C>T														0	1979	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.363	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		7	90	0	0	0	1	0	7	90				
OR10W1	81341	broad.mit.edu	37	11	58034652	58034652	+	Missense_Mutation	SNP	G	G	C	rs372173450	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58034652G>C	ENST00000395079.2	-	1	1080	c.679C>G	c.(679-681)Cgg>Ggg	p.R227G		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAGAAGGCCCGGTGGCGGCCA	0.582																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(679-681)Cgg>Ggg		olfactory receptor, family 10, subfamily W, member 1							78.0	77.0	77.0					11																	58034652		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034652G>C	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.679C>G	11.37:g.58034652G>C	ENSP00000378516:p.Arg227Gly						p.R227G	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	1080	-		Breast(21;0.0589)	227					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.679C>G	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089689	0.55968	.	.	ENSG00000172772	ENST00000395079	T	0.00169	8.63	6.01	0.352	0.16051	GPCR, rhodopsin-like superfamily (1);	0.285757	0.24970	N	0.034154	T	0.00271	0.0008	M	0.87900	2.915	0.09310	N	0.999998	B	0.25235	0.121	B	0.22152	0.038	T	0.38286	-0.9668	10	0.87932	D	0	.	10.3952	0.44196	0.0708:0.0:0.2529:0.6762	.	227	Q8NGF6	O10W1_HUMAN	G	227	ENSP00000378516:R227G	ENSP00000378516:R227G	R	-	1	2	OR10W1	57791228	0.000000	0.05858	0.161000	0.22692	0.916000	0.54674	0.528000	0.23002	0.077000	0.16863	0.655000	0.94253	CGG		0.582	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		9	52	0	0	0	1	0	9	52				
FAT3	120114	broad.mit.edu	37	11	92531085	92531085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92531085C>G	ENST00000298047.6	+	9	4923	c.4906C>G	c.(4906-4908)Cag>Gag	p.Q1636E	FAT3_ENST00000409404.2_Missense_Mutation_p.Q1636E|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1486E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1636	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACGATGGGTCAGTTTGTCCT	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4906-4908)Cag>Gag		FAT atypical cadherin 3							116.0	114.0	114.0					11																	92531085		2009	4163	6172	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531085C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4906C>G	11.37:g.92531085C>G	ENSP00000298047:p.Gln1636Glu	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.Q1636E|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1486E	p.Q1636E			Q8TDW7	FAT3_HUMAN			9	4923	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1636			Cadherin 15.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4906C>G		.	.	.	.	.	.	.	.	.	.	C	0.736	-0.778013	0.02929	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50001	0.76;0.76;0.76	5.81	5.81	0.92471	.	.	.	.	.	T	0.24275	0.0588	N	0.04043	-0.29	0.80722	D	1	P	0.44044	0.825	B	0.36719	0.231	T	0.28650	-1.0037	9	0.02654	T	1	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	1636	Q8TDW7-3	.	E	1636;1636;1486	ENSP00000298047:Q1636E;ENSP00000387040:Q1636E;ENSP00000432586:Q1486E	ENSP00000298047:Q1636E	Q	+	1	0	FAT3	92170733	0.999000	0.42202	0.996000	0.52242	0.018000	0.09664	3.968000	0.56809	2.755000	0.94549	0.650000	0.86243	CAG		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		12	52	0	0	0	1	0	12	52				
PRDM7	11105	broad.mit.edu	37	16	90124900	90124900	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:90124900G>T	ENST00000449207.2	-	10	1295	c.1276C>A	c.(1276-1278)Cct>Act	p.P426T	PRDM7_ENST00000325921.6_Silent_p.G125G|PRDM7_ENST00000407825.1_Silent_p.G125G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	426					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ACTTGAAAAGGCCAGACAGCA	0.438																																						ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1276-1278)Cct>Act		PR domain containing 7							142.0	135.0	137.0					16																	90124900		2198	4300	6498	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90124900G>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1276C>A	16.37:g.90124900G>T	ENSP00000396732:p.Pro426Thr					PRDM7_ENST00000325921.6_Silent_p.G125G|PRDM7_ENST00000407825.1_Silent_p.G125G	p.P426T	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	10	1295	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	426					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1276C>A	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	11.35	1.611382	0.28712	.	.	ENSG00000126856	ENST00000449207	T	0.20738	2.05	2.2	2.2	0.27929	.	.	.	.	.	T	0.33206	0.0855	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.09164	-1.0687	7	.	.	.	-0.5319	4.8069	0.13325	0.1746:0.0:0.8254:0.0	.	426	Q9NQW5	PRDM7_HUMAN	T	426	ENSP00000396732:P426T	.	P	-	1	0	PRDM7	88652401	0.997000	0.39634	1.000000	0.80357	0.741000	0.42261	0.651000	0.24873	1.562000	0.49601	0.591000	0.81541	CCT		0.438	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			10	58	1	0	0.000442599	1	0.000543056	10	58				
ASB1	51665	broad.mit.edu	37	2	239342233	239342233	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:239342233G>T	ENST00000264607.4	+	2	335	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	ASB1_ENST00000409297.1_Missense_Mutation_p.D30Y|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	30					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GCAATTTTGTGATCATCCGCT	0.562																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(88-90)Gat>Tat		ankyrin repeat and SOCS box containing 1							68.0	63.0	65.0					2																	239342233		2203	4300	6503	SO:0001583	missense	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239342233G>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.88G>T	2.37:g.239342233G>T	ENSP00000264607:p.Asp30Tyr					ASB1_ENST00000409297.1_Missense_Mutation_p.D30Y|ASB1_ENST00000469885.1_3'UTR	p.D30Y	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	2	335	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	30					A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	ENST00000264607.4	37	c.88G>T	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255032	0.59321	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.54479	0.57;1.49	5.21	5.21	0.72293	.	0.046152	0.85682	D	0.000000	T	0.71117	0.3302	L	0.61036	1.89	0.33687	D	0.612859	D	0.89917	1.0	D	0.76071	0.987	T	0.79654	-0.1713	10	0.87932	D	0	-47.1111	18.3708	0.90406	0.0:0.0:1.0:0.0	.	30	Q9Y576	ASB1_HUMAN	Y	30	ENSP00000264607:D30Y;ENSP00000387025:D30Y	ENSP00000264607:D30Y	D	+	1	0	ASB1	239006972	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	6.703000	0.74633	2.437000	0.82529	0.555000	0.69702	GAT		0.562	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		3	18	1	0	1	1	1	3	18				
OSBPL9	114883	broad.mit.edu	37	1	52242582	52242582	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:52242582G>A	ENST00000428468.1	+	15	1250	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	OSBPL9_ENST00000371714.1_Silent_p.L403L|OSBPL9_ENST00000361556.5_Silent_p.L306L|OSBPL9_ENST00000530544.1_Silent_p.L335L|OSBPL9_ENST00000371710.3_Silent_p.L434L|OSBPL9_ENST00000453295.1_Silent_p.L399L|OSBPL9_ENST00000435686.2_Silent_p.L251L|OSBPL9_ENST00000462759.1_Silent_p.L238L|OSBPL9_ENST00000531828.1_Silent_p.L251L|OSBPL9_ENST00000447887.1_Silent_p.L426L|OSBPL9_ENST00000337809.4_Silent_p.L421L|OSBPL9_ENST00000486942.1_Silent_p.L238L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	416					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCCGGACCTGTTTGTGAGGT	0.378																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1300-1302)ctG>ctA		oxysterol binding protein-like 9							124.0	120.0	121.0					1																	52242582		2203	4300	6503	SO:0001819	synonymous_variant	114883				lipid transport		lipid binding	g.chr1:52242582G>A	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1248G>A	1.37:g.52242582G>A						OSBPL9_ENST00000371714.1_Silent_p.L403L|OSBPL9_ENST00000486942.1_Silent_p.L238L|OSBPL9_ENST00000361556.5_Silent_p.L306L|OSBPL9_ENST00000462759.1_Silent_p.L238L|OSBPL9_ENST00000530544.1_Silent_p.L335L|OSBPL9_ENST00000453295.1_Silent_p.L399L|OSBPL9_ENST00000337809.4_Silent_p.L421L|OSBPL9_ENST00000447887.1_Silent_p.L426L|OSBPL9_ENST00000435686.2_Silent_p.L251L|OSBPL9_ENST00000428468.1_Silent_p.L416L|OSBPL9_ENST00000531828.1_Silent_p.L251L	p.L434L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			15	1484	+			416					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	c.1302G>A	CCDS41332.3																																																																																				0.378	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			5	48	0	0	0	1	0	5	48				
TRPA1	8989	broad.mit.edu	37	8	72964993	72964993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:72964993G>C	ENST00000262209.4	-	14	1859	c.1652C>G	c.(1651-1653)gCa>gGa	p.A551G	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	551					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAGTGAAGTGCAGTGTTCTT	0.453																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1651-1653)gCa>gGa		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						111.0	96.0	101.0					8																	72964993		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72964993G>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1652C>G	8.37:g.72964993G>C	ENSP00000262209:p.Ala551Gly					RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	p.A551G	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		14	1859	-			551					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1652C>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057494	0.55325	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.75704	-0.96;-0.96	4.98	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	M	0.80847	2.515	0.80722	D	1	P	0.35628	0.513	B	0.41988	0.372	T	0.81493	-0.0908	10	0.45353	T	0.12	-4.5381	18.6199	0.91317	0.0:0.0:1.0:0.0	.	551	O75762	TRPA1_HUMAN	G	403;551	ENSP00000428151:A403G;ENSP00000262209:A551G	ENSP00000262209:A551G	A	-	2	0	TRPA1	73127547	1.000000	0.71417	0.147000	0.22382	0.153000	0.21895	8.688000	0.91260	2.466000	0.83321	0.585000	0.79938	GCA		0.453	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		6	56	0	0	0	1	0	6	56				
ANKRD37	353322	broad.mit.edu	37	4	186320766	186320766	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:186320766G>C	ENST00000335174.4	+	4	755	c.315G>C	c.(313-315)tgG>tgC	p.W105C		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	105						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ATCTCGCTTGGTCATGTGGAT	0.368																																						ENST00000335174.4																			0				NS(1)|large_intestine(1)|lung(1)	3						c.(313-315)tgG>tgC		ankyrin repeat domain 37							88.0	87.0	87.0					4																	186320766		2203	4300	6503	SO:0001583	missense	353322					cytoplasm|nucleus		g.chr4:186320766G>C	AY296056	CCDS3841.1	4q35.1	2013-01-11						"""Ankyrin repeat domain containing"""	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.315G>C	4.37:g.186320766G>C	ENSP00000335147:p.Trp105Cys						p.W105C	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)	4	755	+		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	105						Missense_Mutation	SNP	ENST00000335174.4	37	c.315G>C	CCDS3841.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079779	0.36662	.	.	ENSG00000186352	ENST00000335174	T	0.32272	1.46	6.0	5.16	0.70880	Ankyrin repeat-containing domain (3);	0.235442	0.37857	N	0.001903	T	0.23133	0.0559	N	0.00450	-1.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.61628	-0.7024	10	0.45353	T	0.12	-3.197	15.0875	0.72165	0.0684:0.0:0.9316:0.0	.	105;105	B4E066;Q7Z713	.;ANR37_HUMAN	C	105	ENSP00000335147:W105C	ENSP00000335147:W105C	W	+	3	0	ANKRD37	186557760	1.000000	0.71417	0.996000	0.52242	0.783000	0.44284	5.345000	0.65987	1.567000	0.49668	0.555000	0.69702	TGG		0.368	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360673.1	NM_181726		8	32	0	0	0	1	0	8	32				
B4GALT2	8704	broad.mit.edu	37	1	44450609	44450609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:44450609G>A	ENST00000356836.6	+	4	1412	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	B4GALT2_ENST00000372324.1_Missense_Mutation_p.A208T|B4GALT2_ENST00000309519.7_Missense_Mutation_p.A237T|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000434555.2_Missense_Mutation_p.A142T	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	208					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GGAGGATGCCGCCTATGACTG	0.602																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(622-624)Gcc>Acc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)						102.0	85.0	90.0					1																	44450609		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44450609G>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.622G>A	1.37:g.44450609G>A	ENSP00000349293:p.Ala208Thr					B4GALT2_ENST00000372324.1_Missense_Mutation_p.A208T|B4GALT2_ENST00000434555.2_Missense_Mutation_p.A142T|B4GALT2_ENST00000309519.7_Missense_Mutation_p.A237T|B4GALT2_ENST00000481924.1_3'UTR	p.A208T	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			4	1412	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	208					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.622G>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835583	0.32421	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.25	-6.46	0.01908	.	1.128570	0.06679	N	0.767622	T	0.08403	0.0209	N	0.04335	-0.225	0.09310	N	1	B;B;B	0.16396	0.0;0.017;0.003	B;B;B	0.15484	0.001;0.013;0.003	T	0.39078	-0.9631	10	0.44086	T	0.13	-1.5857	7.8816	0.29624	0.2462:0.0:0.5511:0.2027	.	237;142;208	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	T	208;142;208;237	ENSP00000361399:A208T;ENSP00000407468:A142T;ENSP00000349293:A208T;ENSP00000310696:A237T	ENSP00000310696:A237T	A	+	1	0	B4GALT2	44223196	0.000000	0.05858	0.008000	0.14137	0.601000	0.36947	-0.230000	0.09083	-1.029000	0.03317	-0.602000	0.04101	GCC		0.602	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		6	24	0	0	0	1	0	6	24				
STAU2	27067	broad.mit.edu	37	8	74526175	74526175	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:74526175C>A	ENST00000521451.1	-	4	411	c.35G>T	c.(34-36)gGa>gTa	p.G12V	STAU2_ENST00000521210.1_Missense_Mutation_p.G128V|STAU2_ENST00000522509.1_Missense_Mutation_p.G200V|STAU2_ENST00000523558.1_Missense_Mutation_p.G60V|STAU2_ENST00000521727.1_Missense_Mutation_p.G212V|STAU2_ENST00000524300.1_Missense_Mutation_p.G232V|STAU2_ENST00000517542.1_Missense_Mutation_p.G194V|STAU2_ENST00000519961.1_Missense_Mutation_p.G232V|STAU2_ENST00000355780.5_Missense_Mutation_p.G200V|STAU2_ENST00000522695.1_Missense_Mutation_p.G200V			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	232	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			ATGTGGTGGTCCACTTTCTTT	0.348																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(598-600)gGa>gTa		staufen double-stranded RNA binding protein 2							47.0	45.0	45.0					8																	74526175		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74526175C>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.35G>T	8.37:g.74526175C>A	ENSP00000428476:p.Gly12Val					STAU2_ENST00000521210.1_Missense_Mutation_p.G128V|STAU2_ENST00000524300.1_Missense_Mutation_p.G232V|STAU2_ENST00000523558.1_Missense_Mutation_p.G60V|STAU2_ENST00000522695.1_Missense_Mutation_p.G200V|STAU2_ENST00000521451.1_Missense_Mutation_p.G12V|STAU2_ENST00000522509.1_Missense_Mutation_p.G200V|STAU2_ENST00000517542.1_Missense_Mutation_p.G194V|STAU2_ENST00000519961.1_Missense_Mutation_p.G232V|STAU2_ENST00000521727.1_Missense_Mutation_p.G212V	p.G200V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		8	817	-	Breast(64;0.0138)		232					B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37	c.599G>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.831548	0.91036	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T;D	0.83914	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.78	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	H	0.97340	3.985	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D	0.95659	0.8713	10	0.59425	D	0.04	-37.5012	20.0835	0.97793	0.0:1.0:0.0:0.0	.	212;128;60;128;200;232;200;232	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	V	200;232;60;128;200;232;212;12;200;194;60;200	ENSP00000428456:G200V;ENSP00000428756:G232V;ENSP00000428741:G60V;ENSP00000429173:G128V;ENSP00000348026:G200V;ENSP00000430907:G232V;ENSP00000429973:G212V;ENSP00000428476:G12V;ENSP00000427977:G200V;ENSP00000431111:G194V;ENSP00000429005:G60V;ENSP00000428829:G200V	ENSP00000344030:G60V	G	-	2	0	STAU2	74688729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.577000	0.82486	2.822000	0.97130	0.563000	0.77884	GGA		0.348	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		3	17	1	0	0.115264	1	0.120372	3	17				
OR4Q3	441669	broad.mit.edu	37	14	20216276	20216276	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:20216276C>A	ENST00000331723.1	+	1	690	c.690C>A	c.(688-690)ttC>ttA	p.F230L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACACACTTCTGCCAGGGCC	0.488																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(688-690)ttC>ttA		olfactory receptor, family 4, subfamily Q, member 3							164.0	143.0	150.0					14																	20216276		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216276C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.690C>A	14.37:g.20216276C>A	ENSP00000330049:p.Phe230Leu						p.F230L	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	690	+	all_cancers(95;0.00108)		230					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.690C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	4.551	0.102374	0.08731	.	.	ENSG00000182652	ENST00000331723	T	0.00058	8.79	4.1	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.364548	0.19741	N	0.107136	T	0.00073	0.0002	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.24404	-1.0161	10	0.87932	D	0	.	5.7082	0.17921	0.0:0.6401:0.1626:0.1973	.	230	Q8NH05	OR4Q3_HUMAN	L	230	ENSP00000330049:F230L	ENSP00000330049:F230L	F	+	3	2	OR4Q3	19286116	0.000000	0.05858	0.170000	0.22879	0.031000	0.12232	-0.077000	0.11394	0.359000	0.24239	0.509000	0.49947	TTC		0.488	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			7	88	1	0	0.00198382	1	0.00230193	7	88				
FCRL5	83416	broad.mit.edu	37	1	157514800	157514800	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:157514800G>T	ENST00000361835.3	-	4	537	c.380C>A	c.(379-381)gCg>gAg	p.A127E	FCRL5_ENST00000368191.3_Missense_Mutation_p.A42E|FCRL5_ENST00000356953.4_Missense_Mutation_p.A127E|FCRL5_ENST00000368189.3_Missense_Mutation_p.A127E|FCRL5_ENST00000368190.3_Missense_Mutation_p.A127E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	127					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A127E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTTACTTCCGCCTTTGCCCG	0.418																																						ENST00000361835.3																			1	Substitution - Missense(1)	p.A127E(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(379-381)gCg>gAg		Fc receptor-like 5							86.0	86.0	86.0					1																	157514800		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514800G>T	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.380C>A	1.37:g.157514800G>T	ENSP00000354691:p.Ala127Glu					FCRL5_ENST00000368189.3_Missense_Mutation_p.A127E|FCRL5_ENST00000368190.3_Missense_Mutation_p.A127E|FCRL5_ENST00000356953.4_Missense_Mutation_p.A127E|FCRL5_ENST00000368191.3_Missense_Mutation_p.A42E	p.A127E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			4	537	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	127					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.380C>A	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.208566	0.01568	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	4.48	-8.97	0.00758	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01835	0.0058	N	0.17872	0.535	0.09310	N	1	B;B;P;P;P	0.40282	0.076;0.029;0.524;0.711;0.524	B;B;B;B;P	0.44422	0.028;0.028;0.325;0.296;0.449	T	0.13953	-1.0490	9	0.22706	T	0.39	.	1.9206	0.03306	0.2929:0.0744:0.2348:0.3979	.	42;127;127;127;127	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	E	127;127;127;42;127	ENSP00000354691:A127E;ENSP00000349434:A127E;ENSP00000357173:A127E;ENSP00000357174:A42E;ENSP00000357172:A127E	ENSP00000349434:A127E	A	-	2	0	FCRL5	155781424	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.093000	0.01353	-3.120000	0.00239	-1.968000	0.00466	GCG		0.418	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		10	43	1	0	0.000442599	1	0.000543056	10	43				
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron	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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		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)	ENST00000420246.2		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"""		54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(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	GRCh37	CD043957|CS011574|CS083991	TP53	D|S		c.e6-1	Other conserved DNA damage response genes	tumor protein p53							82.0	74.0	76.0					17																	7578290		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578290C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.560-1G>A	17.37:g.7578290C>T		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_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	692	-		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		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	8	19	0	0	0	1	0	8	19				
APBB1	322	broad.mit.edu	37	11	6432114	6432114	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:6432114C>A	ENST00000609360.1	-	2	563	c.464G>T	c.(463-465)gGg>gTg	p.G155V	APBB1_ENST00000311051.3_Missense_Mutation_p.G155V|APBB1_ENST00000299402.6_Missense_Mutation_p.G155V|APBB1_ENST00000389906.2_Missense_Mutation_p.G155V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	155					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ctcggcctccccggccgcctt	0.627																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(463-465)gGg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							39.0	41.0	41.0					11																	6432114		2199	4295	6494	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432114C>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.464G>T	11.37:g.6432114C>A	ENSP00000477213:p.Gly155Val					APBB1_ENST00000311051.3_Missense_Mutation_p.G155V|APBB1_ENST00000299402.6_Missense_Mutation_p.G155V|APBB1_ENST00000533407.1_Intron	p.G155V	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	563	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	155					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.464G>T		.	.	.	.	.	.	.	.	.	.	C	16.27	3.074741	0.55646	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14893	2.47;2.47;2.48	5.07	5.07	0.68467	.	0.657919	0.14311	N	0.327691	T	0.27063	0.0663	N	0.19112	0.55	0.53005	D	0.999962	D	0.67145	0.996	D	0.64877	0.93	T	0.04565	-1.0942	10	0.48119	T	0.1	-19.7689	15.988	0.80176	0.0:1.0:0.0:0.0	.	155	O00213-2	.	V	155	ENSP00000299402:G155V;ENSP00000311912:G155V;ENSP00000374556:G155V	ENSP00000299402:G155V	G	-	2	0	APBB1	6388690	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	1.629000	0.37071	2.372000	0.80975	0.393000	0.25936	GGG		0.627	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		10	55	1	0	0.000442599	1	0.000543056	10	55				
AKAP11	11215	broad.mit.edu	37	13	42877762	42877762	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:42877762A>G	ENST00000025301.2	+	8	5055	c.4880A>G	c.(4879-4881)tAt>tGt	p.Y1627C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1627					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGCAGCCGCTATCAGAAATCT	0.418																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4879-4881)tAt>tGt		A kinase (PRKA) anchor protein 11							78.0	85.0	83.0					13																	42877762		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877762A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4880A>G	13.37:g.42877762A>G	ENSP00000025301:p.Tyr1627Cys						p.Y1627C	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	5055	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1627					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4880A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	0.273	-0.991656	0.02162	.	.	ENSG00000023516	ENST00000025301	T	0.44482	0.92	5.58	-4.87	0.03123	.	0.936220	0.08955	N	0.869491	T	0.22742	0.0549	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19877	-1.0292	10	0.34782	T	0.22	.	6.0114	0.19578	0.1584:0.1349:0.5732:0.1335	.	1627	Q9UKA4	AKA11_HUMAN	C	1627	ENSP00000025301:Y1627C	ENSP00000025301:Y1627C	Y	+	2	0	AKAP11	41775762	0.566000	0.26618	0.003000	0.11579	0.045000	0.14185	0.158000	0.16422	-0.796000	0.04456	-1.221000	0.01599	TAT		0.418	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		9	87	0	0	0	1	0	9	87				
FXR1	8087	broad.mit.edu	37	3	180688083	180688083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:180688083G>C	ENST00000357559.4	+	15	1924	c.1540G>C	c.(1540-1542)Gat>Cat	p.D514H	FXR1_ENST00000480918.1_Missense_Mutation_p.D501H|FXR1_ENST00000445140.2_Missense_Mutation_p.D514H|FXR1_ENST00000491062.1_Missense_Mutation_p.D465H|FXR1_ENST00000305586.7_Missense_Mutation_p.D429H|FXR1_ENST00000468861.1_Missense_Mutation_p.D429H	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	514					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACTGATGAAGATGCTGTTCT	0.413																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1540-1542)Gat>Cat		fragile X mental retardation, autosomal homolog 1							130.0	111.0	118.0					3																	180688083		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180688083G>C	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1540G>C	3.37:g.180688083G>C	ENSP00000350170:p.Asp514His					FXR1_ENST00000305586.7_Missense_Mutation_p.D429H|FXR1_ENST00000480918.1_Missense_Mutation_p.D501H|FXR1_ENST00000468861.1_Missense_Mutation_p.D429H|FXR1_ENST00000445140.2_Missense_Mutation_p.D514H|FXR1_ENST00000491062.1_Missense_Mutation_p.D465H	p.D514H	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		15	1924	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		514					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1540G>C	CCDS3238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.950630|4.950630	0.92660|0.92660	.|.	.|.	ENSG00000114416|ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918|ENST00000482125	T;T;T;T;T;T|.	0.49432|.	1.51;1.34;0.79;0.78;0.78;1.32|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.041945|.	0.85682|.	D|.	0.000000|.	T|T	0.73674|0.73674	0.3617|0.3617	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.996;0.997;0.997;1.0;0.998;0.994|.	P;P;P;D;D;P|.	0.78314|.	0.862;0.907;0.907;0.991;0.957;0.84|.	T|T	0.68777|0.68777	-0.5319|-0.5319	10|5	0.87932|.	D|.	0|.	-27.8284|-27.8284	20.3011|20.3011	0.98612|0.98612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	501;465;429;458;514;514|.	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114|.	.;.;.;.;.;FXR1_HUMAN|.	H|N	514;429;465;429;514;501|114	ENSP00000350170:D514H;ENSP00000307633:D429H;ENSP00000420643:D465H;ENSP00000420515:D429H;ENSP00000388828:D514H;ENSP00000418097:D501H|.	ENSP00000307633:D429H|.	D|K	+|+	1|3	0|2	FXR1|FXR1	182170777|182170777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.804000|2.804000	0.96469|0.96469	0.650000|0.650000	0.86243|0.86243	GAT|AAG		0.413	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			8	46	0	0	0	1	0	8	46				
HCN3	57657	broad.mit.edu	37	1	155257696	155257696	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:155257696C>T	ENST00000368358.3	+	8	1775	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	589					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGGTCGGGCCCCGAGCACAG	0.612																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1765-1767)gcC>gcT		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							48.0	48.0	48.0					1																	155257696		2203	4300	6503	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155257696C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1767C>T	1.37:g.155257696C>T						HCN3_ENST00000496230.1_3'UTR	p.A589A	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1775	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		589					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.1767C>T	CCDS1108.1																																																																																				0.612	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		8	36	0	0	0	1	0	8	36				
MAP3K13	9175	broad.mit.edu	37	3	185169139	185169139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:185169139G>C	ENST00000265026.3	+	7	1568	c.1234G>C	c.(1234-1236)Gca>Cca	p.A412P	MAP3K13_ENST00000424227.1_Missense_Mutation_p.A412P|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A268P|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A205P|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A268P	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CATTGCCTCTGCAGATGTACT	0.428																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1234-1236)Gca>Cca		mitogen-activated protein kinase kinase kinase 13							139.0	125.0	129.0					3																	185169139		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185169139G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1234G>C	3.37:g.185169139G>C	ENSP00000265026:p.Ala412Pro					MAP3K13_ENST00000535426.1_Missense_Mutation_p.A268P|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A412P|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A268P|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A205P	p.A412P	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		7	1568	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		412						Missense_Mutation	SNP	ENST00000265026.3	37	c.1234G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436800	0.83885	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.78707	-1.2;-1.16;-1.1;-1.1;-1.16;0.01	5.76	5.76	0.90799	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72326	0.3446	L	0.27053	0.805	0.80722	D	1	B;B;B	0.31790	0.151;0.34;0.23	B;B;B	0.36808	0.17;0.233;0.117	T	0.67917	-0.5546	10	0.34782	T	0.22	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	268;205;412	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	P	205;412;268;268;412;157	ENSP00000411483:A205P;ENSP00000399910:A412P;ENSP00000409325:A268P;ENSP00000439257:A268P;ENSP00000265026:A412P;ENSP00000415712:A157P	ENSP00000265026:A412P	A	+	1	0	MAP3K13	186651833	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	7.932000	0.87634	2.882000	0.98803	0.655000	0.94253	GCA		0.428	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		10	47	0	0	0	1	0	10	47				
TMEM132D	121256	broad.mit.edu	37	12	130184735	130184735	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:130184735C>G	ENST00000422113.2	-	2	914	c.588G>C	c.(586-588)ctG>ctC	p.L196L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	196					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACAGGAGCTCCAGCTCGGCCA	0.692																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(586-588)ctG>ctC		transmembrane protein 132D							17.0	20.0	19.0					12																	130184735		2201	4298	6499	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130184735C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.588G>C	12.37:g.130184735C>G							p.L196L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	914	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	196					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.588G>C	CCDS9266.1																																																																																				0.692	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		6	24	0	0	0	1	0	6	24				
ARID4B	51742	broad.mit.edu	37	1	235377328	235377328	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:235377328T>C	ENST00000264183.3	-	17	2094	c.1597A>G	c.(1597-1599)Aaa>Gaa	p.K533E	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.K533E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	533	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K533E(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			tcttcttcttTATTCGTTTCA	0.348																																						ENST00000264183.3																			1	Substitution - Missense(1)	p.K533E(1)	kidney(1)	NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1597-1599)Aaa>Gaa		AT rich interactive domain 4B (RBP1-like)							88.0	83.0	85.0					1																	235377328		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377328T>C	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1597A>G	1.37:g.235377328T>C	ENSP00000264183:p.Lys533Glu					ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.K533E	p.K533E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2094	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	533			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.1597A>G	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538484	0.45176	.	.	ENSG00000054267	ENST00000391856;ENST00000366603;ENST00000264183;ENST00000439834	T;T	0.26810	1.71;1.71	5.66	5.66	0.87406	Chromo domain/shadow (1);	0.361283	0.29396	N	0.012272	T	0.33118	0.0852	N	0.14661	0.345	0.54753	D	0.999986	B;D	0.63880	0.3;0.993	B;D	0.72625	0.107;0.978	T	0.15178	-1.0446	10	0.25751	T	0.34	-18.1666	15.8893	0.79279	0.0:0.0:0.0:1.0	.	214;533	Q4LE39-4;Q4LE39	.;ARI4B_HUMAN	E	533	ENSP00000355562:K533E;ENSP00000264183:K533E	ENSP00000264183:K533E	K	-	1	0	ARID4B	233443951	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.478000	0.60230	2.153000	0.67306	0.528000	0.53228	AAA		0.348	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		5	57	0	0	0	1	0	5	57				
LRFN3	79414	broad.mit.edu	37	19	36430792	36430792	+	Silent	SNP	C	C	A	rs550640402		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:36430792C>A	ENST00000588831.1	+	3	1519	c.465C>A	c.(463-465)gcC>gcA	p.A155A	LRFN3_ENST00000246529.3_Silent_p.A155A			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	155					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATGATTGTGCCGAGACACTGG	0.677																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(463-465)gcC>gcA		leucine rich repeat and fibronectin type III domain containing 3							43.0	40.0	41.0					19																	36430792		2203	4295	6498	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430792C>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.465C>A	19.37:g.36430792C>A						LRFN3_ENST00000246529.3_Silent_p.A155A	p.A155A			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1519	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		155					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.465C>A	CCDS12483.1																																																																																				0.677	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		13	54	1	0	2.27111e-07	1	3.45555e-07	13	54				
DDX11	1663	broad.mit.edu	37	12	31244783	31244783	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:31244783G>T	ENST00000407793.2	+	10	1471	c.1220G>T	c.(1219-1221)aGc>aTc	p.S407I	DDX11_ENST00000545668.1_Missense_Mutation_p.S407I|DDX11_ENST00000228264.6_Missense_Mutation_p.S381I|DDX11_ENST00000542838.1_Missense_Mutation_p.S407I|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.S407I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	407	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCATGCACAGCGTGGAGGTC	0.672										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(1219-1221)aGc>aTc		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							49.0	50.0	50.0					12																	31244783		2203	4299	6502	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31244783G>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1220G>T	12.37:g.31244783G>T	ENSP00000384703:p.Ser407Ile	Multiple Myeloma(12;0.14)				DDX11_ENST00000542838.1_Missense_Mutation_p.S407I|DDX11_ENST00000350437.4_Missense_Mutation_p.S407I|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.S381I|DDX11_ENST00000545668.1_Missense_Mutation_p.S407I	p.S407I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			10	1471	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		407			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.1220G>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898382	0.72639	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.76186	-0.37;-1.0;-0.37;-1.0;-1.0	3.05	3.05	0.35203	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.263764	0.44902	D	0.000411	D	0.89139	0.6630	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.988;0.971;0.994;0.978;0.98	D	0.91457	0.5186	10	0.87932	D	0	.	11.6158	0.51090	0.0:0.0:1.0:0.0	.	132;381;407;407;407	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	I	407;407;132;381;407;407	ENSP00000443426:S407I;ENSP00000384703:S407I;ENSP00000228264:S381I;ENSP00000440402:S407I;ENSP00000309965:S407I	ENSP00000228264:S381I	S	+	2	0	DDX11	31136050	1.000000	0.71417	0.570000	0.28473	0.899000	0.52679	8.685000	0.91246	1.535000	0.49220	0.505000	0.49811	AGC		0.672	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		4	40	1	0	0.184627	1	0.188945	4	40				
NLRP12	91662	broad.mit.edu	37	19	54297343	54297343	+	Missense_Mutation	SNP	G	G	A	rs146786265	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:54297343G>A	ENST00000324134.6	-	10	3314	c.3146C>T	c.(3145-3147)gCg>gTg	p.A1049V	NLRP12_ENST00000391775.3_Missense_Mutation_p.A992V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A880V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A937V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TACTCGAAGCGCTGCCAACCT	0.463													G|||	7	0.00139776	0.0	0.0	5008	,	,		17779	0.0069		0.0	False		,,,				2504	0.0					ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(3145-3147)gCg>gTg		NLR family, pyrin domain containing 12							175.0	139.0	151.0					19																	54297343		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54297343G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3146C>T	19.37:g.54297343G>A	ENSP00000319377:p.Ala1049Val					NLRP12_ENST00000391772.1_Missense_Mutation_p.A880V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A992V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A937V	p.A1049V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	10	3314	-	Ovarian(34;0.19)		1049					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.3146C>T	CCDS12864.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	15.24	2.775919	0.49786	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.74842	0.55;-0.88;-0.85;-0.85;-0.87;0.55;-0.88	4.44	-0.297	0.12820	.	.	.	.	.	T	0.74981	0.3788	M	0.70595	2.14	0.09310	N	1	P;D;D;D	0.89917	0.487;0.995;1.0;1.0	B;P;D;P	0.77557	0.068;0.899;0.99;0.894	T	0.64123	-0.6481	9	0.45353	T	0.12	.	3.7683	0.08632	0.2863:0.0:0.545:0.1687	.	275;1049;992;1049	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	1049;992;937;880;275;992;1050;993;880	ENSP00000319377:A1049V;ENSP00000438030:A992V;ENSP00000340473:A937V;ENSP00000346231:A880V;ENSP00000375655:A992V;ENSP00000375653:A1050V;ENSP00000375652:A880V	ENSP00000319377:A1049V	A	-	2	0	NLRP12	58989155	0.001000	0.12720	0.000000	0.03702	0.262000	0.26303	0.280000	0.18790	-0.128000	0.11641	-0.355000	0.07637	GCG		0.463	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		6	31	0	0	0	1	0	6	31				
PCLO	27445	broad.mit.edu	37	7	82764161	82764161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82764161G>A	ENST00000333891.9	-	3	3042	c.2705C>T	c.(2704-2706)tCa>tTa	p.S902L	PCLO_ENST00000423517.2_Missense_Mutation_p.S902L	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						GAAACGCCTTGACTGCTCCTG	0.542																																						ENST00000423517.2																			0				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						c.(2704-2706)tCa>tTa		piccolo presynaptic cytomatrix protein							157.0	155.0	155.0					7																	82764161		1963	4157	6120	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764161G>A	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.2705C>T	7.37:g.82764161G>A	ENSP00000334319:p.Ser902Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.S902L	p.S902L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3042	-			848			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2705C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774914	0.31411	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17054	2.3;2.3	5.97	5.97	0.96955	.	.	.	.	.	T	0.22859	0.0552	M	0.63428	1.95	0.80722	D	1	B;B	0.27416	0.178;0.178	B;B	0.28011	0.053;0.085	T	0.01326	-1.1384	9	0.87932	D	0	.	15.175	0.72903	0.0:0.0:0.859:0.141	.	902;902	Q9Y6V0-5;Q9Y6V0-6	.;.	L	848;902;902	ENSP00000334319:S902L;ENSP00000388393:S902L	ENSP00000334319:S902L	S	-	2	0	PCLO	82602097	0.969000	0.33509	0.971000	0.41717	0.972000	0.66771	5.920000	0.70017	2.828000	0.97474	0.655000	0.94253	TCA		0.542	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		21	133	0	0	0	1	0	21	133				
ZNF317	57693	broad.mit.edu	37	19	9271381	9271381	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9271381A>T	ENST00000247956.6	+	7	1365	c.1060A>T	c.(1060-1062)Agg>Tgg	p.R354W	ZNF317_ENST00000360385.3_Missense_Mutation_p.R322W	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGAGCACGTGAGGAATCACAC	0.567																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1060-1062)Agg>Tgg		zinc finger protein 317							37.0	38.0	38.0					19																	9271381		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271381A>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1060A>T	19.37:g.9271381A>T	ENSP00000247956:p.Arg354Trp					ZNF317_ENST00000360385.3_Missense_Mutation_p.R322W	p.R354W	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1365	+			354					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1060A>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	A	7.013	0.557204	0.13436	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.25579	1.79;1.79	3.04	-6.07	0.02158	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000783	T	0.49321	0.1550	M	0.90309	3.105	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.946;0.998	T	0.58532	-0.7620	10	0.87932	D	0	-31.1809	10.7773	0.46356	0.3475:0.5718:0.0807:0.0	.	322;354	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	W	354;322	ENSP00000247956:R354W;ENSP00000353554:R322W	ENSP00000247956:R354W	R	+	1	2	ZNF317	9132381	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-2.866000	0.00723	-2.951000	0.00293	-2.303000	0.00259	AGG		0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		5	42	0	0	0	1	0	5	42				
FLII	2314	broad.mit.edu	37	17	18148389	18148389	+	3'UTR	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:18148389T>C	ENST00000327031.4	-	0	4098				FLII_ENST00000579294.1_3'UTR|FLII_ENST00000379450.4_3'UTR|FLII_ENST00000545457.2_3'UTR|FLII_ENST00000578558.1_Nonstop_Mutation_p.*701W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)						multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CATTCTTTGCTAGCAGACAGT	0.607																																						ENST00000578558.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2101-2103)tAg>tGg		flightless I homolog (Drosophila)																																				SO:0001624	3_prime_UTR_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148389T>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.*63A>G	17.37:g.18148389T>C						FLII_ENST00000379450.4_3'UTR|FLII_ENST00000579294.1_3'UTR|FLII_ENST00000545457.2_3'UTR|FLII_ENST00000327031.4_3'UTR	p.*701W			Q13045	FLII_HUMAN			17	2137	-	all_neural(463;0.228)		0			Interaction with ACTL6A.		B4DIL0|F5H407|J3QLG3	Nonstop_Mutation	SNP	ENST00000327031.4	37	c.2102A>G	CCDS11192.1																																																																																				0.607	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		10	70	0	0	0	1	0	10	70				
GOLM1	51280	broad.mit.edu	37	9	88655709	88655709	+	Missense_Mutation	SNP	C	C	A	rs144749820	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:88655709C>A	ENST00000388712.3	-	6	710	c.542G>T	c.(541-543)gGg>gTg	p.G181V	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.G181V	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	181					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						AGCTTCATTCCCCTTTTTGGT	0.468													C|||	12	0.00239617	0.0091	0.0	5008	,	,		19127	0.0		0.0	False		,,,				2504	0.0					ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(541-543)gGg>gTg		golgi membrane protein 1		C	VAL/GLY,VAL/GLY	39,4367	42.3+/-75.8	0,39,2164	252.0	209.0	224.0		542,542	5.5	0.1	9	dbSNP_134	224	0,8600		0,0,4300	yes	missense,missense	GOLM1	NM_016548.3,NM_177937.2	109,109	0,39,6464	AA,AC,CC		0.0,0.8852,0.2999	probably-damaging,probably-damaging	181/402,181/402	88655709	39,12967	2203	4300	6503	SO:0001583	missense	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88655709C>A	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.542G>T	9.37:g.88655709C>A	ENSP00000373364:p.Gly181Val					GOLM1_ENST00000388711.3_Missense_Mutation_p.G181V|GOLM1_ENST00000257504.6_5'UTR	p.G181V	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN			6	710	-			181					Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	c.542G>T	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018403	0.54576	0.008852	0.0	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.41400	1.0;1.0	5.54	5.54	0.83059	.	0.196928	0.36482	N	0.002561	T	0.47581	0.1453	L	0.54323	1.7	0.53005	D	0.999967	D	0.61080	0.989	P	0.61722	0.893	T	0.43458	-0.9390	10	0.33940	T	0.23	-0.3703	14.9883	0.71365	0.0:1.0:0.0:0.0	.	181	Q8NBJ4	GOLM1_HUMAN	V	181	ENSP00000373364:G181V;ENSP00000373363:G181V	ENSP00000373363:G181V	G	-	2	0	GOLM1	87845529	0.390000	0.25213	0.105000	0.21289	0.384000	0.30261	1.771000	0.38542	2.618000	0.88619	0.563000	0.77884	GGG		0.468	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		10	51	1	0	2.17888e-05	1	2.95337e-05	10	51				
ANGPT4	51378	broad.mit.edu	37	20	896685	896685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:896685C>A	ENST00000381922.3	-	1	275	c.173G>T	c.(172-174)gGg>gTg	p.G58V	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G58V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	58					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GACCTCAGGCCCCGGAGGGCA	0.617																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(172-174)gGg>gTg		angiopoietin 4							109.0	107.0	108.0					20																	896685		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896685C>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.173G>T	20.37:g.896685C>A	ENSP00000371347:p.Gly58Val					ANGPT4_ENST00000546022.1_Missense_Mutation_p.G58V	p.G58V	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			1	275	-			58					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.173G>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	2.538	-0.307020	0.05458	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.12569	2.67;2.67	4.36	0.484	0.16825	.	0.958363	0.08553	N	0.928739	T	0.08403	0.0209	L	0.36672	1.1	0.09310	N	1	P;P	0.38922	0.651;0.454	B;B	0.32805	0.153;0.079	T	0.31613	-0.9937	10	0.29301	T	0.29	.	3.5055	0.07689	0.0:0.2824:0.3281:0.3895	.	58;58	B4E3J9;Q9Y264	.;ANGP4_HUMAN	V	58	ENSP00000371347:G58V;ENSP00000439605:G58V	ENSP00000371347:G58V	G	-	2	0	ANGPT4	844685	0.000000	0.05858	0.021000	0.16686	0.080000	0.17528	-0.027000	0.12371	0.194000	0.20326	0.305000	0.20034	GGG		0.617	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		6	70	1	0	0.00116845	1	0.00137844	6	70				
TMC7	79905	broad.mit.edu	37	16	19056251	19056251	+	Silent	SNP	G	G	T	rs147850292		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:19056251G>T	ENST00000304381.5	+	10	1513	c.1383G>T	c.(1381-1383)acG>acT	p.T461T	TMC7_ENST00000421369.3_Silent_p.T351T|TMC7_ENST00000569532.1_Silent_p.T461T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	461					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGTGTTCACGCTGGGCTCCA	0.582																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1051-1053)acG>acT		transmembrane channel-like 7							113.0	96.0	102.0					16																	19056251		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19056251G>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1383G>T	16.37:g.19056251G>T						TMC7_ENST00000304381.5_Silent_p.T461T|TMC7_ENST00000569532.1_Silent_p.T461T	p.T351T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			10	1611	+			461					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.1053G>T	CCDS10573.1																																																																																				0.582	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		12	66	1	0	0.010729	1	0.0117521	12	66				
TGM6	343641	broad.mit.edu	37	20	2397912	2397912	+	Silent	SNP	G	G	T	rs187699549		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:2397912G>T	ENST00000202625.2	+	10	1432	c.1371G>T	c.(1369-1371)gcG>gcT	p.A457A	TGM6_ENST00000381423.1_Silent_p.A457A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	457					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAGCAAGGCGGTGAACAGGC	0.607																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1369-1371)gcG>gcT		transglutaminase 6	L-Glutamine(DB00130)																																			SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2397912G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1371G>T	20.37:g.2397912G>T						TGM6_ENST00000381423.1_Silent_p.A457A	p.A457A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			10	1432	+			457					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.1371G>T	CCDS13025.1																																																																																				0.607	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	12	1	0	0.00024832	1	0.000309642	4	12				
CHDC2	286464	broad.mit.edu	37	X	36103429	36103429	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:36103429A>T	ENST00000313548.4	+	5	602		c.e5-1			NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2							integral component of membrane (GO:0016021)											TTTTTCTCATAGGGATGTATA	0.294																																						ENST00000378660.1																			0											c.e5-1		calponin homology domain containing 2							57.0	57.0	57.0					X																	36103429		2201	4299	6500	SO:0001630	splice_region_variant	286464							g.chrX:36103429A>T	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.417-1A>T	X.37:g.36103429A>T						CHDC2_ENST00000313548.4_Splice_Site								5	604	+									Splice_Site	SNP	ENST00000313548.4	37		CCDS14238.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082621	0.36758	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7288	0.46085	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXorf59	36013350	1.000000	0.71417	0.991000	0.47740	0.347000	0.29111	5.548000	0.67255	1.803000	0.52742	0.486000	0.48141	.		0.294	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	Intron	9	19	0	0	0	1	0	9	19				
SATB1	6304	broad.mit.edu	37	3	18458394	18458394	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:18458394C>T	ENST00000338745.6	-	3	2122	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Splice_Site_p.G130R|SATB1_ENST00000417717.2_Splice_Site_p.G130R	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	130	PDZ-like dimerization domain.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTATTTACCTTTGGCCTGG	0.403																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.e3+1		SATB homeobox 1							156.0	141.0	147.0					3																	18458394		2203	4300	6503	SO:0001630	splice_region_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18458394C>T		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.388+1G>A	3.37:g.18458394C>T						SATB1_ENST00000417717.2_Splice_Site_p.G130_splice|SATB1_ENST00000454909.2_Splice_Site_p.G130_splice|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	p.G130_splice	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			3	2122	-			130			PDZ-like dimerization domain.		B3KXF1|C9JTR6|Q59EQ0	Splice_Site	SNP	ENST00000338745.6	37	c.388_splice	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041972	0.75732	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.33	5.33	0.75918	.	0.193480	0.53938	D	0.000041	D	0.85826	0.5787	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86791	0.1985	10	0.87932	D	0	-20.2641	19.3886	0.94570	0.0:1.0:0.0:0.0	.	130;130	Q01826-2;Q01826	.;SATB1_HUMAN	R	130	ENSP00000341024:G130R;ENSP00000399708:G130R;ENSP00000399518:G130R;ENSP00000402982:G130R;ENSP00000406727:G130R;ENSP00000390529:G130R	ENSP00000341024:G130R	G	-	1	0	SATB1	18433398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.646000	0.89796	0.561000	0.74099	GGG		0.403	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010	Missense_Mutation	13	59	0	0	0	1	0	13	59				
ART4	420	broad.mit.edu	37	12	14993444	14993444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:14993444C>G	ENST00000228936.4	-	2	1169	c.788G>C	c.(787-789)aGa>aCa	p.R263T	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	263					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CCAGTCTCCTCTTGGGTGGTA	0.453																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(787-789)aGa>aCa		ADP-ribosyltransferase 4							77.0	76.0	76.0					12																	14993444		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993444C>G	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.788G>C	12.37:g.14993444C>G	ENSP00000228936:p.Arg263Thr					C12orf60_ENST00000527783.1_Intron	p.R263T	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			2	1169	-			263					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.788G>C	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	C	7.604	0.673411	0.14776	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.08008	3.14;3.14	4.31	2.32	0.28847	.	0.682524	0.14177	N	0.336292	T	0.08891	0.0220	L	0.46157	1.445	0.22127	N	0.999345	P;P	0.39920	0.695;0.695	B;B	0.40825	0.341;0.341	T	0.21793	-1.0235	10	0.66056	D	0.02	-2.8857	5.4519	0.16570	0.0:0.5679:0.0:0.432	.	263;263	A8K6J7;Q93070	.;NAR4_HUMAN	T	263;246	ENSP00000228936:R263T;ENSP00000405689:R246T	ENSP00000228936:R263T	R	-	2	0	ART4	14884711	0.008000	0.16893	0.630000	0.29268	0.157000	0.22087	0.182000	0.16900	0.623000	0.30267	0.655000	0.94253	AGA		0.453	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		8	51	0	0	0	1	0	8	51				
SULF1	23213	broad.mit.edu	37	8	70539467	70539467	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:70539467T>A	ENST00000260128.4	+	16	2590	c.1873T>A	c.(1873-1875)Tct>Act	p.S625T	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.S625T|SULF1_ENST00000419716.3_Missense_Mutation_p.S625T|SULF1_ENST00000402687.4_Missense_Mutation_p.S625T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	625					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCCCAATGACTCTATCCATTG	0.388																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1873-1875)Tct>Act		sulfatase 1							166.0	151.0	156.0					8																	70539467		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70539467T>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1873T>A	8.37:g.70539467T>A	ENSP00000260128:p.Ser625Thr					SULF1_ENST00000419716.3_Missense_Mutation_p.S625T|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.S625T|SULF1_ENST00000402687.4_Missense_Mutation_p.S625T	p.S625T	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		16	2590	+	Breast(64;0.0654)		625					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1873T>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	T	2.299	-0.360660	0.05103	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.74	4.59	0.56863	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.084798	0.85682	N	0.000000	D	0.88043	0.6331	N	0.00123	-2.06	0.28810	N	0.898301	B	0.02656	0.0	B	0.08055	0.003	T	0.81611	-0.0854	10	0.02654	T	1	.	11.1161	0.48262	0.7533:0.0:0.0:0.2467	.	625	Q8IWU6	SULF1_HUMAN	T	625	ENSP00000403040:S625T;ENSP00000260128:S625T;ENSP00000385704:S625T;ENSP00000390315:S625T	ENSP00000260128:S625T	S	+	1	0	SULF1	70702021	1.000000	0.71417	0.880000	0.34516	0.452000	0.32318	6.058000	0.71126	1.105000	0.41606	-0.383000	0.06682	TCT		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		3	20	0	0	0	1	0	3	20				
GLI3	2737	broad.mit.edu	37	7	42088212	42088212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:42088212G>A	ENST00000395925.3	-	5	641	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	186					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGAGACTCGGAAGCAGCAGT	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(556-558)tCc>tTc		GLI family zinc finger 3							130.0	135.0	133.0					7																	42088212		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42088212G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.557C>T	7.37:g.42088212G>A	ENSP00000379258:p.Ser186Phe					GLI3_ENST00000479210.1_5'UTR	p.S186F	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			5	641	-			186					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.557C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744920	0.69418	.	.	ENSG00000106571	ENST00000395925	T	0.41065	1.01	5.55	5.55	0.83447	.	0.108119	0.64402	D	0.000004	T	0.52322	0.1727	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.58331	0.837	T	0.52358	-0.8586	10	0.66056	D	0.02	.	19.8824	0.96903	0.0:0.0:1.0:0.0	.	186	P10071	GLI3_HUMAN	F	186	ENSP00000379258:S186F	ENSP00000379258:S186F	S	-	2	0	GLI3	42054737	1.000000	0.71417	0.093000	0.20910	0.874000	0.50279	6.571000	0.74000	2.785000	0.95823	0.591000	0.81541	TCC		0.542	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		4	61	0	0	0	1	0	4	61				
COL11A2	1302	broad.mit.edu	37	6	33138938	33138938	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:33138938G>T	ENST00000374708.4	-	43	3319	c.3061C>A	c.(3061-3063)Cct>Act	p.P1021T	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Missense_Mutation_p.P1107T|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1047T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1081T|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1060T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1086T|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1026T|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1000T	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1107	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGGTCCAGGAGGGCCCTGG	0.617																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3319-3321)Cct>Act		collagen, type XI, alpha 2							35.0	36.0	36.0					6																	33138938		2203	4298	6501	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33138938G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3061C>A	6.37:g.33138938G>T	ENSP00000363840:p.Pro1021Thr					COL11A2_ENST00000374714.1_Missense_Mutation_p.P1081T|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1060T|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1026T|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1000T|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1021T|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1047T|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1086T|COL11A2_ENST00000477772.1_Intron	p.P1107T	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			45	3546	-			1107			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3319C>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453309	0.43531	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08;-4.08	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	L	0.41573	1.285	0.80722	D	1	P;P;P	0.38300	0.573;0.573;0.626	B;B;B	0.40782	0.23;0.23;0.34	D	0.93820	0.7118	10	0.59425	D	0.04	.	15.0632	0.71970	0.0:0.0:1.0:0.0	.	1000;1021;1107	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	T	1021;1107;1086;1081;1060;1047;1026;1000	ENSP00000363840:P1021T;ENSP00000339915:P1107T;ENSP00000350079:P1086T;ENSP00000363846:P1081T;ENSP00000363845:P1060T;ENSP00000378623:P1047T;ENSP00000363844:P1026T;ENSP00000355123:P1000T	ENSP00000339915:P1107T	P	-	1	0	COL11A2	33246916	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.345000	0.72995	2.400000	0.81607	0.551000	0.68910	CCT		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			5	10	1	0	0.014758	1	0.0159185	5	10				
GUCY1A3	2982	broad.mit.edu	37	4	156638394	156638394	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:156638394G>T	ENST00000296518.7	+	8	1865	c.1656G>T	c.(1654-1656)atG>atT	p.M552I	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M552I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M294I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M552I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	552	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAGCGCTGATGGCCCTGAAGA	0.438																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1654-1656)atG>atT		guanylate cyclase 1, soluble, alpha 3							145.0	133.0	137.0					4																	156638394		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156638394G>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1656G>T	4.37:g.156638394G>T	ENSP00000296518:p.Met552Ile					GUCY1A3_ENST00000506455.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.M552I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.M294I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.M552I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.M552I	p.M552I			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	1865	+	all_hematologic(180;0.24)	Renal(120;0.0854)	552			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1656G>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084512	0.94100	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.64	5.64	0.86602	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	M	0.82716	2.605	0.80722	D	1	P;P	0.41232	0.743;0.743	P;P	0.49387	0.609;0.609	D	0.88953	0.3388	10	0.72032	D	0.01	.	19.6996	0.96048	0.0:0.0:1.0:0.0	.	552;552	B3KU69;Q02108	.;GCYA3_HUMAN	I	552;552;552;552;294;552;552	ENSP00000424361:M552I;ENSP00000421493:M552I;ENSP00000426968:M552I;ENSP00000412201:M552I;ENSP00000377418:M294I;ENSP00000296518:M552I;ENSP00000426040:M552I	ENSP00000296518:M552I	M	+	3	0	GUCY1A3	156857844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.646000	0.89796	0.655000	0.94253	ATG		0.438	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			4	25	1	0	2.56e-06	1	3.676e-06	4	25				
AMY2B	280	broad.mit.edu	37	1	104115725	104115725	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:104115725G>T	ENST00000361355.4	+	5	972	c.356G>T	c.(355-357)gGt>gTt	p.G119V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	119					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATATGTCTGGTAATGCTGTG	0.398																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(355-357)gGt>gTt		amylase, alpha 2B (pancreatic)							373.0	370.0	371.0					1																	104115725		2203	4298	6501	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115725G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.356G>T	1.37:g.104115725G>T	ENSP00000354610:p.Gly119Val					AMY2B_ENST00000491397.1_3'UTR	p.G119V	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	972	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	119					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.356G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894200	0.52121	.	.	ENSG00000240038	ENST00000361355	D	0.98249	-4.82	4.58	4.58	0.56647	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.101638	0.64402	D	0.000002	D	0.99221	0.9729	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99174	1.0865	10	0.87932	D	0	.	17.4661	0.87633	0.0:0.0:1.0:0.0	.	119	P19961	AMY2B_HUMAN	V	119	ENSP00000354610:G119V	ENSP00000354610:G119V	G	+	2	0	AMY2B	103917248	1.000000	0.71417	0.383000	0.26132	0.021000	0.10359	5.425000	0.66470	2.104000	0.64026	0.644000	0.83932	GGT		0.398	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		36	206	1	0	2.42023e-17	1	4.10368e-17	36	206				
GPR148	344561	broad.mit.edu	37	2	131486858	131486858	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:131486858C>A	ENST00000309926.4	+	1	216	c.134C>A	c.(133-135)cCc>cAc	p.P45H		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	45				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCAGGGTGCCCAGCTCCATG	0.622																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(133-135)cCc>cAc		G protein-coupled receptor 148							78.0	70.0	73.0					2																	131486858		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486858C>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.134C>A	2.37:g.131486858C>A	ENSP00000308908:p.Pro45His						p.P45H	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	216	+	Colorectal(110;0.1)		45	CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).				Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.134C>A	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	15.21	2.767245	0.49574	.	.	ENSG00000173302	ENST00000309926	T	0.37915	1.17	2.55	2.55	0.30701	.	0.939982	0.08667	U	0.911494	T	0.34629	0.0904	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.61800	0.894	T	0.38908	-0.9639	10	0.26408	T	0.33	-11.1141	11.2415	0.48972	0.0:1.0:0.0:0.0	.	45	Q8TDV2	GP148_HUMAN	H	45	ENSP00000308908:P45H	ENSP00000308908:P45H	P	+	2	0	GPR148	131203328	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	0.641000	0.24720	1.379000	0.46325	0.462000	0.41574	CCC		0.622	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		5	57	1	0	0.000602214	1	0.000725341	5	57				
DNAH11	8701	broad.mit.edu	37	7	21737692	21737692	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:21737692G>T	ENST00000409508.3	+	36	6072		c.e36-1		DNAH11_ENST00000328843.6_Splice_Site	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTACTTTTTAGACCCTGTGCC	0.378									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.e37-1		dynein, axonemal, heavy chain 11							71.0	63.0	65.0					7																	21737692		1877	4130	6007	SO:0001630	splice_region_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21737692G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6042-1G>T	7.37:g.21737692G>T						DNAH11_ENST00000409508.3_Splice_Site				Q96DT5	DYH11_HUMAN			37	6093	+								Q9UJ82	Splice_Site	SNP	ENST00000409508.3	37			.	.	.	.	.	.	.	.	.	.	G	18.77	3.694465	0.68386	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5808	0.68288	0.0721:0.0:0.9278:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH11	21704217	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	8.005000	0.88553	2.569000	0.86673	0.650000	0.86243	.		0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Intron	5	11	1	0	0.000602214	1	0.000725341	5	11				
TRIM51	84767	broad.mit.edu	37	11	55658917	55658917	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55658917A>C	ENST00000449290.2	+	7	1260	c.1168A>C	c.(1168-1170)Agt>Cgt	p.S390R	TRIM51_ENST00000244891.3_Missense_Mutation_p.S247R	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CACTCACTGCAGTCTCTTTAC	0.443																																						ENST00000449290.2																			0											c.(1168-1170)Agt>Cgt		tripartite motif-containing 51							31.0	31.0	31.0					11																	55658917		2124	4093	6217	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658917A>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1168A>C	11.37:g.55658917A>C	ENSP00000395086:p.Ser390Arg					TRIM51_ENST00000244891.3_Missense_Mutation_p.S247R	p.S390R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1260	+			390			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1168A>C		.	.	.	.	.	.	.	.	.	.	.	7.424	0.637390	0.14386	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.61980	0.06;0.06	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.47764	0.1463	L	0.28400	0.85	0.09310	N	1	B	0.20052	0.041	B	0.28991	0.097	T	0.43589	-0.9382	9	0.48119	T	0.1	.	5.1325	0.14917	1.0:0.0:0.0:0.0	.	390	Q9BSJ1	SPRY5_HUMAN	R	390;247	ENSP00000395086:S390R;ENSP00000244891:S247R	ENSP00000244891:S247R	S	+	1	0	SPRYD5	55415493	0.019000	0.18553	0.005000	0.12908	0.225000	0.24961	-0.120000	0.10660	0.540000	0.28808	0.136000	0.15936	AGT		0.443	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		15	73	0	0	0	1	0	15	73				
SCAMP5	192683	broad.mit.edu	37	15	75311215	75311215	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:75311215T>A	ENST00000361900.6	+	8	806	c.599T>A	c.(598-600)gTg>gAg	p.V200E	SCAMP5_ENST00000545456.1_Missense_Mutation_p.V129E|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V200E|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V208E|SCAMP5_ENST00000568081.1_Missense_Mutation_p.V133E	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	200					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AATCCACATGTGCAGCAGGCA	0.552																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(598-600)gTg>gAg		secretory carrier membrane protein 5							47.0	52.0	51.0					15																	75311215		1979	4165	6144	SO:0001583	missense	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75311215T>A	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.599T>A	15.37:g.75311215T>A	ENSP00000355387:p.Val200Glu					SCAMP5_ENST00000545456.1_Missense_Mutation_p.V129E|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V200E|SCAMP5_ENST00000568081.1_Missense_Mutation_p.V133E|SCAMP5_ENST00000562212.1_Missense_Mutation_p.V208E	p.V200E	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			8	806	+			200					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Missense_Mutation	SNP	ENST00000361900.6	37	c.599T>A	CCDS45306.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458416	0.63401	.	.	ENSG00000198794	ENST00000361900;ENST00000425597;ENST00000545456	T;T;T	0.37752	1.61;1.61;1.18	5.08	5.08	0.68730	.	0.057176	0.64402	D	0.000002	T	0.59783	0.2219	M	0.84219	2.685	0.80722	D	1	D;P;P	0.67145	0.996;0.929;0.771	P;P;B	0.61201	0.885;0.679;0.209	T	0.67094	-0.5757	10	0.87932	D	0	-14.6044	14.183	0.65586	0.0:0.0:0.0:1.0	.	129;208;200	Q8TAC9-3;Q8TAC9-2;Q8TAC9	.;.;SCAM5_HUMAN	E	200;200;129	ENSP00000355387:V200E;ENSP00000406547:V200E;ENSP00000439685:V129E	ENSP00000355387:V200E	V	+	2	0	SCAMP5	73098268	1.000000	0.71417	0.997000	0.53966	0.138000	0.21146	7.706000	0.84615	2.127000	0.65507	0.533000	0.62120	GTG		0.552	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		3	17	0	0	0	1	0	3	17				
ATP13A4	84239	broad.mit.edu	37	3	193232586	193232586	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:193232586G>T	ENST00000342695.4	-	2	457	c.135C>A	c.(133-135)atC>atA	p.I45I	ATP13A4_ENST00000295548.3_Silent_p.I45I|ATP13A4_ENST00000392443.3_Silent_p.I45I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	45						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGGGGAGGATTCCAAATG	0.498																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(133-135)atC>atA		ATPase type 13A4							126.0	117.0	120.0					3																	193232586		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193232586G>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.135C>A	3.37:g.193232586G>T						ATP13A4_ENST00000295548.3_Silent_p.I45I|ATP13A4_ENST00000392443.3_Silent_p.I45I	p.I45I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	2	457	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		45					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.135C>A	CCDS3304.2																																																																																				0.498	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		11	65	1	0	4.68919e-08	1	7.32885e-08	11	65				
GRID2	2895	broad.mit.edu	37	4	94376932	94376932	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:94376932A>T	ENST00000282020.4	+	11	1923	c.1665A>T	c.(1663-1665)acA>acT	p.T555T	GRID2_ENST00000510992.1_Silent_p.T460T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	555					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)		CTGAAAAGACAGTGGATATGT	0.478																																						ENST00000282020.4																			0				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						c.(1663-1665)acA>acT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						228.0	197.0	207.0					4																	94376932		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:94376932A>T	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.1665A>T	4.37:g.94376932A>T						GRID2_ENST00000510992.1_Silent_p.T460T	p.T555T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1923	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	555					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.1665A>T	CCDS3637.1																																																																																				0.478	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			9	70	0	0	0	1	0	9	70				
ZNF589	51385	broad.mit.edu	37	3	48309548	48309548	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:48309548C>G	ENST00000354698.3	+	4	439	c.367C>G	c.(367-369)Cca>Gca	p.P123A	ZNF589_ENST00000440261.2_Missense_Mutation_p.P122A|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	123					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAATCCCTGCCCAGAGGATCA	0.507																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(367-369)Cca>Gca		zinc finger protein 589							68.0	69.0	69.0					3																	48309548		1929	4146	6075	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48309548C>G	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.367C>G	3.37:g.48309548C>G	ENSP00000346729:p.Pro123Ala					ZNF589_ENST00000440261.2_Missense_Mutation_p.P122A|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	p.P123A	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	439	+			123					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.367C>G	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	C	4.944	0.175465	0.09391	.	.	ENSG00000164048	ENST00000354698;ENST00000440261;ENST00000296437	T;T	0.06371	3.31;4.88	1.32	-0.584	0.11702	.	.	.	.	.	T	0.04452	0.0122	L	0.39245	1.2	0.09310	N	1	B;B;B	0.33288	0.406;0.089;0.053	B;B;B	0.34138	0.176;0.006;0.003	T	0.42832	-0.9428	9	0.09590	T	0.72	.	3.8694	0.09030	0.0:0.5233:0.0:0.4767	.	122;120;123	B4DQF9;Q86UQ0-2;Q86UQ0	.;.;ZN589_HUMAN	A	123;122;120	ENSP00000346729:P123A;ENSP00000408719:P122A	ENSP00000296437:P120A	P	+	1	0	ZNF589	48284552	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-1.288000	0.02783	-0.227000	0.09884	0.467000	0.42956	CCA		0.507	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		7	39	0	0	0	1	0	7	39				
PCLO	27445	broad.mit.edu	37	7	82764452	82764452	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82764452C>A	ENST00000333891.9	-	3	2751	c.2414G>T	c.(2413-2415)aGt>aTt	p.S805I	PCLO_ENST00000423517.2_Missense_Mutation_p.S805I	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						TGGTGGAAAACTCTGTGAGGG	0.433																																						ENST00000423517.2																			0				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						c.(2413-2415)aGt>aTt		piccolo presynaptic cytomatrix protein							187.0	173.0	177.0					7																	82764452		1847	4102	5949	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764452C>A	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.2414G>T	7.37:g.82764452C>A	ENSP00000334319:p.Ser805Ile					PCLO_ENST00000333891.8_Missense_Mutation_p.S805I	p.S805I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2751	-			751			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2414G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.752	0.921569	0.17982	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.91	4.96	0.65561	.	.	.	.	.	T	0.12008	0.0292	L	0.27053	0.805	0.20638	N	0.999879	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.01	T	0.07597	-1.0764	9	0.87932	D	0	.	5.2747	0.15643	0.2002:0.628:0.0:0.1718	.	805;805	Q9Y6V0-5;Q9Y6V0-6	.;.	I	751;805;805	ENSP00000334319:S805I;ENSP00000388393:S805I	ENSP00000334319:S805I	S	-	2	0	PCLO	82602388	0.973000	0.33851	1.000000	0.80357	0.966000	0.64601	1.442000	0.35046	2.799000	0.96334	0.650000	0.86243	AGT		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	91	1	0	1.23904e-05	1	1.68943e-05	5	91				
FAM135B	51059	broad.mit.edu	37	8	139151264	139151264	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:139151264C>A	ENST00000395297.1	-	18	4036	c.3866G>T	c.(3865-3867)cGc>cTc	p.R1289L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAACATTTGCGCAAATCAGC	0.438										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(3865-3867)cGc>cTc		family with sequence similarity 135, member B							133.0	128.0	129.0					8																	139151264		1877	4117	5994	SO:0001583	missense	51059							g.chr8:139151264C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3866G>T	8.37:g.139151264C>A	ENSP00000378710:p.Arg1289Leu	HNSCC(54;0.14)					p.R1289L	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4036	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1289					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3866G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	34	5.366808	0.95900	.	.	ENSG00000147724	ENST00000395297	T	0.44083	0.93	5.58	5.58	0.84498	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75947	-0.3138	10	0.87932	D	0	-20.3154	18.5599	0.91096	0.0:1.0:0.0:0.0	.	1289	Q49AJ0	F135B_HUMAN	L	1289	ENSP00000378710:R1289L	ENSP00000378710:R1289L	R	-	2	0	FAM135B	139220446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.644000	0.89710	0.655000	0.94253	CGC		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		10	27	1	0	0.000673444	1	0.000810072	10	27				
SNX14	57231	broad.mit.edu	37	6	86282058	86282058	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:86282058T>C	ENST00000314673.3	-	3	472	c.296A>G	c.(295-297)cAt>cGt	p.H99R	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.H47R|SNX14_ENST00000369627.2_Missense_Mutation_p.H99R|SNX14_ENST00000513865.1_Missense_Mutation_p.H99R|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.H99R	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	99					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGCACAGCTATGACCTTGAGG	0.318																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(295-297)cAt>cGt		sorting nexin 14							117.0	128.0	124.0					6																	86282058		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86282058T>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.296A>G	6.37:g.86282058T>C	ENSP00000313121:p.His99Arg					SNX14_ENST00000505648.1_Missense_Mutation_p.H47R|RP11-321N4.5_ENST00000503906.1_3'UTR|SNX14_ENST00000346348.3_Missense_Mutation_p.H99R|SNX14_ENST00000513865.1_Missense_Mutation_p.H99R|SNX14_ENST00000369627.2_Missense_Mutation_p.H99R|SNX14_ENST00000508980.1_5'UTR	p.H99R	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	3	472	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	99					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.296A>G	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	T	8.359	0.832761	0.16820	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000509338;ENST00000514419	T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.53	4.43	0.53597	.	0.047334	0.85682	N	0.000000	T	0.05090	0.0136	L	0.29908	0.895	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24905	-1.0147	10	0.12103	T	0.63	-10.8602	3.7645	0.08617	0.1897:0.1185:0.0:0.6918	.	99;99;99	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7	.;.;SNX14_HUMAN	R	99;99;99;47;99;26;47;98	ENSP00000257769:H99R;ENSP00000313121:H99R;ENSP00000420938:H99R;ENSP00000427380:H47R;ENSP00000358641:H99R;ENSP00000425630:H26R;ENSP00000424302:H47R;ENSP00000425387:H98R	ENSP00000313121:H99R	H	-	2	0	SNX14	86338777	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.069000	0.50026	1.039000	0.40074	0.402000	0.26972	CAT		0.318	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		11	60	0	0	0	1	0	11	60				
SLC6A18	348932	broad.mit.edu	37	5	1244418	1244418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:1244418G>A	ENST00000324642.3	+	10	1549	c.1426G>A	c.(1426-1428)Gct>Act	p.A476T	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A374T	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	476					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAATTTTGCCGCTTCCCCGAA	0.577																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1426-1428)Gct>Act		solute carrier family 6 (neutral amino acid transporter), member 18							152.0	151.0	152.0					5																	1244418		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244418G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1426G>A	5.37:g.1244418G>A	ENSP00000323549:p.Ala476Thr					SLC6A18_ENST00000296821.4_Missense_Mutation_p.A374T	p.A476T	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1549	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		476						Missense_Mutation	SNP	ENST00000324642.3	37	c.1426G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099399	0.94197	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.77877	-1.13;-1.13	4.87	4.87	0.63330	.	0.137704	0.46758	D	0.000263	D	0.83538	0.5276	L	0.61036	1.89	0.32762	N	0.504998	D	0.63880	0.993	P	0.57911	0.829	D	0.87943	0.2718	10	0.56958	D	0.05	.	14.9218	0.70843	0.0:0.0:1.0:0.0	.	476	Q96N87	S6A18_HUMAN	T	476;374	ENSP00000323549:A476T;ENSP00000296821:A374T	ENSP00000296821:A374T	A	+	1	0	SLC6A18	1297418	1.000000	0.71417	0.046000	0.18839	0.011000	0.07611	6.675000	0.74493	2.264000	0.75181	0.561000	0.74099	GCT		0.577	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		5	42	0	0	0	1	0	5	42				
DNASE1L3	1776	broad.mit.edu	37	3	58191210	58191210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:58191210G>T	ENST00000394549.2	-	3	624	c.308C>A	c.(307-309)gCc>gAc	p.A103D	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.A103D|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.A103D|DNASE1L3_ENST00000486455.1_Intron	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	103					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTAGAGAAAGGCATATTGTTC	0.353																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(307-309)gCc>gAc		deoxyribonuclease I-like 3							198.0	194.0	195.0					3																	58191210		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58191210G>T	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.308C>A	3.37:g.58191210G>T	ENSP00000378053:p.Ala103Asp					DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.A103D|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.A103D	p.A103D			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	5	889	-			103					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.308C>A	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698734	0.68501	.	.	ENSG00000163687	ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.77	4.89	0.63831	Endonuclease/exonuclease/phosphatase (2);	0.247012	0.35378	N	0.003251	T	0.80259	0.4590	M	0.88181	2.935	0.41958	D	0.990695	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.981	T	0.82928	-0.0214	10	0.62326	D	0.03	.	10.2565	0.43401	0.071:0.1357:0.7933:0.0	.	103;103	E9PES0;Q13609	.;DNSL3_HUMAN	D	103	ENSP00000316193:A103D;ENSP00000417047:A103D;ENSP00000378053:A103D;ENSP00000418113:A103D	ENSP00000316193:A103D	A	-	2	0	DNASE1L3	58166250	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.888000	0.48594	1.433000	0.47394	0.655000	0.94253	GCC		0.353	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		5	33	1	0	1.23904e-05	1	1.68943e-05	5	33				
IL3RA	3563	broad.mit.edu	37	X	1467386	1467386	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:1467386C>A	ENST00000331035.4	+	4	595	c.246C>A	c.(244-246)acC>acA	p.T82T	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	82					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAACTACACCGTCCGAGTGG	0.458																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(244-246)acC>acA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						481.0	431.0	448.0					X																	1467386		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1467386C>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.246C>A	X.37:g.1467386C>A						IL3RA_ENST00000381469.2_Intron	p.T82T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			4	595	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	82					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.246C>A	CCDS14113.1																																																																																				0.458	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			10	96	1	0	0.00621372	1	0.00702387	10	96				
TNR	7143	broad.mit.edu	37	1	175334226	175334226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:175334226G>T	ENST00000367674.2	-	12	3215	c.2507C>A	c.(2506-2508)cCa>cAa	p.P836Q	TNR_ENST00000263525.2_Missense_Mutation_p.P836Q			Q92752	TENR_HUMAN	tenascin R	836	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					CTCTGTGGCTGGTTGCAGGCC	0.557																																						ENST00000367674.1																			0				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						c.(2506-2508)cCa>cAa		tenascin R							103.0	94.0	97.0					1																	175334226		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334226G>T	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.2507C>A	1.37:g.175334226G>T	ENSP00000356646:p.Pro836Gln					TNR_ENST00000263525.2_Missense_Mutation_p.P836Q	p.P836Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			12	3215	-	Renal(580;0.146)		836			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2507C>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709363	0.89018	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.68624	-0.34;-0.34	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85283	0.5661	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86707	0.1933	10	0.87932	D	0	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	836	Q92752	TENR_HUMAN	Q	836	ENSP00000356646:P836Q;ENSP00000263525:P836Q	ENSP00000263525:P836Q	P	-	2	0	TNR	173600849	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.296000	0.96104	2.793000	0.96121	0.655000	0.94253	CCA		0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		6	54	1	0	3.59834e-05	1	4.79257e-05	6	54				
HIST1H2AB	8335	broad.mit.edu	37	6	26033783	26033783	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26033783C>A	ENST00000259791.2	-	1	13	c.14G>T	c.(13-15)gGc>gTc	p.G5V	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	5						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCTTGTTTGCCGCGACCAGA	0.498																																						ENST00000259791.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(13-15)gGc>gTc		histone cluster 1, H2ab							64.0	71.0	68.0					6																	26033783		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033783C>A	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.14G>T	6.37:g.26033783C>A	ENSP00000259791:p.Gly5Val						p.G5V	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	13	-			5					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.14G>T	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.799984	0.50208	.	.	ENSG00000137259	ENST00000259791	T	0.43688	0.94	5.49	5.49	0.81192	Histone-fold (2);Histone H2A (1);	0.000000	0.35805	U	0.002963	T	0.57198	0.2037	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.60886	0.88	T	0.61098	-0.7131	9	0.87932	D	0	.	18.7226	0.91702	0.0:1.0:0.0:0.0	.	5	P04908	H2A1B_HUMAN	V	5	ENSP00000259791:G5V	ENSP00000259791:G5V	G	-	2	0	HIST1H2AB	26141762	1.000000	0.71417	0.167000	0.22817	0.018000	0.09664	7.727000	0.84838	2.716000	0.92895	0.655000	0.94253	GGC		0.498	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		4	44	1	0	0.00024832	1	0.000309642	4	44				
GGA1	26088	broad.mit.edu	37	22	38019382	38019382	+	Missense_Mutation	SNP	G	G	A	rs186081433		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:38019382G>A	ENST00000343632.4	+	8	1044	c.658G>A	c.(658-660)Gag>Aag	p.E220K	GGA1_ENST00000325180.8_Missense_Mutation_p.E220K|GGA1_ENST00000406772.1_Missense_Mutation_p.E147K|GGA1_ENST00000381756.5_Missense_Mutation_p.E237K|GGA1_ENST00000337437.4_Missense_Mutation_p.E187K	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	220	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGCCATCGAGGAGGTGAACAA	0.592											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17074	0.0		0.001	False		,,,				2504	0.0					ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(439-441)Gag>Aag		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							208.0	181.0	190.0					22																	38019382		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38019382G>A	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.658G>A	22.37:g.38019382G>A	ENSP00000341344:p.Glu220Lys		OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	GGA1_ENST00000337437.4_Missense_Mutation_p.E187K|GGA1_ENST00000343632.4_Missense_Mutation_p.E220K|GGA1_ENST00000381756.5_Missense_Mutation_p.E237K|GGA1_ENST00000325180.8_Missense_Mutation_p.E220K	p.E147K	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			9	1091	+	Melanoma(58;0.0574)		220			Interaction with ARF3.|VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.439G>A	CCDS13951.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.305481	0.95601	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.05	5.05	0.67936	GAT (2);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	L	0.60455	1.87	0.80722	D	1	D;D;B	0.76494	0.997;0.999;0.413	D;D;B	0.73708	0.981;0.966;0.326	T	0.52071	-0.8624	10	0.07990	T	0.79	-30.5267	18.4033	0.90525	0.0:0.0:1.0:0.0	.	237;220;220	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	K	220;237;220;187;212;147	ENSP00000341344:E220K;ENSP00000371175:E237K;ENSP00000321288:E220K;ENSP00000338647:E187K;ENSP00000390416:E212K;ENSP00000385287:E147K	ENSP00000321288:E220K	E	+	1	0	GGA1	36349328	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.729000	0.98795	2.355000	0.79922	0.563000	0.77884	GAG		0.592	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		15	116	0	0	0	1	0	15	116				
OOSP2	219990	broad.mit.edu	37	11	59814466	59814466	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:59814466G>T	ENST00000278855.2	+	4	582	c.397G>T	c.(397-399)Gat>Tat	p.D133Y		NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		133						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AATAAAATTGGATCCTAGTCC	0.383																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(397-399)Gat>Tat									151.0	148.0	149.0					11																	59814466		2201	4295	6496	SO:0001583	missense	219990					extracellular region		g.chr11:59814466G>T																												ENST00000278855.2:c.397G>T	11.37:g.59814466G>T	ENSP00000278855:p.Asp133Tyr						p.D133Y	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			4	582	+			133					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.397G>T	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413021	0.25465	.	.	ENSG00000149507	ENST00000278855	.	.	.	3.28	-2.42	0.06542	.	1.179840	0.06647	N	0.762150	T	0.39036	0.1063	L	0.44542	1.39	0.09310	N	1	D	0.60160	0.987	P	0.55391	0.775	T	0.34775	-0.9815	9	0.56958	D	0.05	-1.136	4.2841	0.10846	0.4966:0.1812:0.3222:0.0	.	133	Q86WS3	PLACL_HUMAN	Y	133	.	ENSP00000278855:D133Y	D	+	1	0	PLAC1L	59571042	0.000000	0.05858	0.000000	0.03702	0.898000	0.52572	-0.531000	0.06171	-0.553000	0.06158	0.557000	0.71058	GAT		0.383	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			11	72	1	0	3.07112e-06	1	4.40305e-06	11	72				
FREM2	341640	broad.mit.edu	37	13	39446936	39446936	+	Missense_Mutation	SNP	G	G	C	rs367698077		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:39446936G>C	ENST00000280481.7	+	17	8257	c.8041G>C	c.(8041-8043)Gtg>Ctg	p.V2681L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2681					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTTCCTACGTGTTCCATTC	0.458																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8041-8043)Gtg>Ctg		FRAS1 related extracellular matrix protein 2							143.0	138.0	140.0					13																	39446936		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39446936G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8041G>C	13.37:g.39446936G>C	ENSP00000280481:p.Val2681Leu						p.V2681L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	17	8257	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2681					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8041G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590287	0.86851	.	.	ENSG00000150893	ENST00000280481	T	0.26518	1.73	5.78	4.92	0.64577	.	0.064076	0.64402	N	0.000007	T	0.36386	0.0965	M	0.79475	2.455	0.80722	D	1	P	0.50272	0.933	B	0.42771	0.397	T	0.45731	-0.9241	10	0.72032	D	0.01	.	16.7442	0.85467	0.0:0.1293:0.8707:0.0	.	2681	Q5SZK8	FREM2_HUMAN	L	2681	ENSP00000280481:V2681L	ENSP00000280481:V2681L	V	+	1	0	FREM2	38344936	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.960000	0.87893	1.407000	0.46875	0.563000	0.77884	GTG		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	39	0	0	0	1	0	5	39				
YPEL3	83719	broad.mit.edu	37	16	30106424	30106424	+	Splice_Site	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30106424A>G	ENST00000398838.4	-	3	374	c.161T>C	c.(160-162)gTg>gCg	p.V54A	YPEL3_ENST00000565479.1_5'UTR|RP11-455F5.3_ENST00000515455.2_RNA|YPEL3_ENST00000562641.1_Splice_Site_p.V92A|YPEL3_ENST00000563788.1_Splice_Site_p.V54A|YPEL3_ENST00000566595.1_Splice_Site_p.V54A|YPEL3_ENST00000398841.1_Splice_Site_p.V92A|YPEL3_ENST00000566134.1_Splice_Site_p.V54A	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	54						nucleus (GO:0005634)				endometrium(1)|lung(2)	3						AGATACTCACACTGAGTTGAA	0.617																																						ENST00000562641.1																			0				endometrium(1)|lung(2)	3						c.e2+1		yippee-like 3 (Drosophila)							73.0	79.0	77.0					16																	30106424		2038	4201	6239	SO:0001630	splice_region_variant	83719					nucleolus		g.chr16:30106424A>G	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.161+1T>C	16.37:g.30106424A>G						YPEL3_ENST00000566595.1_Splice_Site_p.V54_splice|YPEL3_ENST00000398838.4_Splice_Site_p.V54_splice|YPEL3_ENST00000566134.1_Splice_Site_p.V54_splice|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Splice_Site_p.V92_splice|YPEL3_ENST00000563788.1_Splice_Site_p.V54_splice	p.V92_splice			P61236	YPEL3_HUMAN			2	804	-			54					Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Splice_Site	SNP	ENST00000398838.4	37	c.275_splice	CCDS45459.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315793	0.40996	.	.	ENSG00000090238	ENST00000398841;ENST00000398838	.	.	.	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000005	T	0.49847	0.1581	L	0.45744	1.44	0.58432	D	0.999999	B;P	0.35894	0.012;0.526	B;B	0.37601	0.075;0.254	T	0.47911	-0.9080	8	.	.	.	-2.6201	11.9325	0.52855	1.0:0.0:0.0:0.0	.	54;92	P61236;P61236-2	YPEL3_HUMAN;.	A	92;54	.	.	V	-	2	0	YPEL3	30013925	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.628000	0.90979	1.666000	0.50821	0.459000	0.35465	GTG		0.617	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477	Missense_Mutation	4	20	0	0	0	1	0	4	20				
GABRG3	2567	broad.mit.edu	37	15	27222233	27222233	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:27222233C>A	ENST00000333743.6	+	2	392	c.138C>A	c.(136-138)gaC>gaA	p.D46E	GABRG3_ENST00000555083.1_Missense_Mutation_p.D46E	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	46					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGACACCGACGTGACTCTTA	0.383																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(136-138)gaC>gaA		gamma-aminobutyric acid (GABA) A receptor, gamma 3							100.0	100.0	100.0					15																	27222233		1847	4083	5930	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27222233C>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.138C>A	15.37:g.27222233C>A	ENSP00000331912:p.Asp46Glu					GABRG3_ENST00000555083.1_Missense_Mutation_p.D46E	p.D46E	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	2	392	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	46					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.138C>A	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351404	0.41700	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	T;T	0.81163	-1.46;0.63	5.28	-1.81	0.07882	Neurotransmitter-gated ion-channel ligand-binding (1);	0.000000	0.85682	D	0.000000	T	0.78541	0.4299	M	0.74881	2.28	0.39966	D	0.974723	B;P	0.49447	0.065;0.924	B;P	0.46452	0.103;0.517	T	0.75013	-0.3467	10	0.31617	T	0.26	.	10.3325	0.43831	0.0:0.312:0.0:0.688	.	46;46	Q99928;G3V594	GBRG3_HUMAN;.	E	46	ENSP00000331912:D46E;ENSP00000452244:D46E	ENSP00000331912:D46E	D	+	3	2	GABRG3	24804979	0.996000	0.38824	0.861000	0.33841	0.854000	0.48673	0.278000	0.18753	-0.496000	0.06650	-0.259000	0.10710	GAC		0.383	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			9	44	1	0	3.09899e-07	1	4.6688e-07	9	44				
ZNF611	81856	broad.mit.edu	37	19	53208371	53208371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:53208371C>A	ENST00000319783.1	-	7	2253	c.1937G>T	c.(1936-1938)gGa>gTa	p.G646V	ZNF611_ENST00000543227.1_Missense_Mutation_p.G646V|ZNF611_ENST00000595798.1_Missense_Mutation_p.G577V|ZNF611_ENST00000540744.1_Missense_Mutation_p.G646V|ZNF611_ENST00000453741.2_Missense_Mutation_p.G577V|ZNF611_ENST00000602162.1_Missense_Mutation_p.G577V	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGATTTCTCTCCAGTATGAAG	0.413																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1936-1938)gGa>gTa		zinc finger protein 611							178.0	174.0	175.0					19																	53208371		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208371C>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1937G>T	19.37:g.53208371C>A	ENSP00000322427:p.Gly646Val					ZNF611_ENST00000602162.1_Missense_Mutation_p.G577V|ZNF611_ENST00000595798.1_Missense_Mutation_p.G577V|ZNF611_ENST00000540744.1_Missense_Mutation_p.G646V|ZNF611_ENST00000453741.2_Missense_Mutation_p.G577V|ZNF611_ENST00000319783.1_Missense_Mutation_p.G646V	p.G646V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2211	-			646					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1937G>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.387907	0.42308	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	1.61	0.364	0.16124	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39306	0.1073	M	0.79343	2.45	0.42455	D	0.992768	D	0.54964	0.969	P	0.55087	0.768	T	0.31223	-0.9951	9	0.72032	D	0.01	.	7.7461	0.28869	0.2521:0.7479:0.0:0.0	.	646	Q8N823	ZN611_HUMAN	V	646;646;577;646	ENSP00000437616:G646V;ENSP00000439211:G646V;ENSP00000443505:G577V;ENSP00000322427:G646V	ENSP00000322427:G646V	G	-	2	0	ZNF611	57900183	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	0.165000	0.16564	-0.013000	0.14199	0.184000	0.17185	GGA		0.413	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		23	154	1	0	1.37657e-19	1	2.34706e-19	23	154				
IRF1	3659	broad.mit.edu	37	5	131822538	131822538	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:131822538T>C	ENST00000245414.4	-	5	623		c.e5-2		IRF1_ENST00000463784.1_Splice_Site|IRF1_ENST00000405885.2_Splice_Site	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ACTTTCTTTCTGTGGGGCAGA	0.612																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.e5-2		interferon regulatory factor 1							212.0	174.0	187.0					5																	131822538		2203	4300	6503	SO:0001630	splice_region_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822538T>C		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.365-2A>G	5.37:g.131822538T>C						IRF1_ENST00000405885.2_Splice_Site|IRF1_ENST00000463784.1_Splice_Site		NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	5	623	-		all_cancers(142;0.026)|Breast(839;0.198)						Q96GG7	Splice_Site	SNP	ENST00000245414.4	37		CCDS4155.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758156	0.69763	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8206	0.63318	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF1	131850437	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	5.366000	0.66122	2.278000	0.76064	0.533000	0.62120	.		0.612	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198	Intron	15	98	0	0	0	1	0	15	98				
PODNL1	79883	broad.mit.edu	37	19	14043638	14043638	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:14043638G>T	ENST00000339560.5	-	8	1692	c.1419C>A	c.(1417-1419)ggC>ggA	p.G473G	PODNL1_ENST00000538517.2_Silent_p.G382G|PODNL1_ENST00000538371.2_Silent_p.G471G|PODNL1_ENST00000254320.3_Silent_p.G391G	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	473						proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CATGCCAGGTGCCTGGCCCGA	0.701																																						ENST00000538517.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(1144-1146)ggC>ggA		podocan-like 1							21.0	26.0	24.0					19																	14043638		2199	4294	6493	SO:0001819	synonymous_variant	79883					proteinaceous extracellular matrix		g.chr19:14043638G>T	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1419C>A	19.37:g.14043638G>T						PODNL1_ENST00000538371.2_Silent_p.G471G|PODNL1_ENST00000254320.3_Silent_p.G391G|PODNL1_ENST00000339560.5_Silent_p.G473G	p.G382G	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		6	1390	-			473			Leu-rich.		B7Z564|Q9H5G9	Silent	SNP	ENST00000339560.5	37	c.1146C>A	CCDS12300.1																																																																																				0.701	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		6	49	1	0	0.00116845	1	0.00137844	6	49				
CYP11B1	1584	broad.mit.edu	37	8	143957153	143957153	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:143957153G>C	ENST00000292427.4	-	6	1128	c.1096C>G	c.(1096-1098)Cgt>Ggt	p.R366G	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R366G|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R437G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	366					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R366C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGGGCCGCACGCAGCAAGGGC	0.692									Familial Hyperaldosteronism type I																													ENST00000292427.4																			1	Substitution - Missense(1)	p.R366C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1096-1098)Cgt>Ggt		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						64.0	66.0	65.0					8																	143957153		2202	4300	6502	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957153G>C	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1096C>G	8.37:g.143957153G>C	ENSP00000292427:p.Arg366Gly					CYP11B1_ENST00000517471.1_Missense_Mutation_p.R366G|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R437G	p.R366G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			6	1128	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		366					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1096C>G	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	12.30	1.897317	0.33535	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;T;T	0.76316	-1.01;-0.37;-0.37;-0.37	4.42	0.276	0.15663	.	0.144353	0.31976	N	0.006780	D	0.83170	0.5196	M	0.69523	2.12	0.28668	N	0.90575	D;D;D;D;D	0.69078	0.995;0.997;0.997;0.997;0.99	D;D;D;D;D	0.72625	0.973;0.978;0.978;0.952;0.944	T	0.75775	-0.3199	10	0.87932	D	0	.	7.1337	0.25517	0.0859:0.0:0.3417:0.5724	.	437;366;366;366;82	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	G	21;366;366;437	ENSP00000430144:R21G;ENSP00000292427:R366G;ENSP00000428043:R366G;ENSP00000366903:R437G	ENSP00000292427:R366G	R	-	1	0	CYP11B1	143954155	0.999000	0.42202	0.087000	0.20705	0.304000	0.27724	1.579000	0.36536	-0.191000	0.10448	-0.324000	0.08512	CGT		0.692	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			7	74	0	0	0	1	0	7	74				
SCGB1D2	10647	broad.mit.edu	37	11	62010877	62010877	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:62010877G>T	ENST00000244926.3	+	2	270	c.172G>T	c.(172-174)Gcc>Tcc	p.A58S	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	58						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						AGCTGTTGCAGCCAAGTTAGG	0.453																																						ENST00000244926.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(172-174)Gcc>Tcc		secretoglobin, family 1D, member 2							146.0	134.0	138.0					11																	62010877		2202	4299	6501	SO:0001583	missense	10647					extracellular space	binding	g.chr11:62010877G>T	AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"""Secretoglobins"""	18396	protein-coding gene	gene with protein product	"""prostatein-like lipophilin B"", ""lipophilin B (uteroglobin family member), prostatein-like"""	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.172G>T	11.37:g.62010877G>T	ENSP00000244926:p.Ala58Ser					RP11-703H8.9_ENST00000529875.1_RNA	p.A58S	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN			2	270	+			58					Q2M3N9	Missense_Mutation	SNP	ENST00000244926.3	37	c.172G>T	CCDS8017.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124354	0.37533	.	.	ENSG00000124935	ENST00000244926	T	0.27104	1.69	2.44	1.48	0.22813	.	0.182537	0.25648	N	0.029223	T	0.43211	0.1237	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11665	-1.0578	9	0.87932	D	0	.	6.3252	0.21239	0.0:0.0:0.7054:0.2946	.	58	O95969	SG1D2_HUMAN	S	58	ENSP00000244926:A58S	ENSP00000244926:A58S	A	+	1	0	SCGB1D2	61767453	0.004000	0.15560	0.001000	0.08648	0.010000	0.07245	0.854000	0.27791	0.570000	0.29347	0.313000	0.20887	GCC		0.453	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394859.1	NM_006551		6	50	1	0	0.00116845	1	0.00137844	6	50				
KCNC2	3747	broad.mit.edu	37	12	75436912	75436912	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75436912A>G	ENST00000549446.1	-	5	2570	c.1890T>C	c.(1888-1890)tcT>tcC	p.S630S	RP11-81K13.1_ENST00000550049.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000540018.1_Silent_p.S575S|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000548513.1_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	630					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TGGGAGATCGAGAGCGCCTCA	0.453																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1888-1890)tcT>tcC		potassium voltage-gated channel, Shaw-related subfamily, member 2							151.0	134.0	140.0					12																	75436912		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75436912A>G	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1890T>C	12.37:g.75436912A>G						KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000540018.1_Silent_p.S575S|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000550049.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000550433.1_Intron	p.S630S	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			5	2570	-			630					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.1890T>C	CCDS9007.1																																																																																				0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		5	48	0	0	0	1	0	5	48				
IGF2BP1	10642	broad.mit.edu	37	17	47117419	47117419	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:47117419G>A	ENST00000290341.3	+	7	1118	c.784G>A	c.(784-786)Gag>Aag	p.E262K	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	262	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GATGATCTTGGAGATTATGCA	0.502																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(784-786)Gag>Aag		insulin-like growth factor 2 mRNA binding protein 1							165.0	149.0	154.0					17																	47117419		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47117419G>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.784G>A	17.37:g.47117419G>A	ENSP00000290341:p.Glu262Lys					IGF2BP1_ENST00000431824.2_Intron	p.E262K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			7	1118	+			262			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.784G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746654	0.89663	.	.	ENSG00000159217	ENST00000290341	T	0.44083	0.93	5.65	5.65	0.86999	K Homology (1);	0.056004	0.64402	D	0.000001	T	0.53061	0.1773	M	0.76170	2.325	0.80722	D	1	B	0.32573	0.376	B	0.39935	0.314	T	0.53365	-0.8449	10	0.48119	T	0.1	-34.6391	18.512	0.90920	0.0:0.0:1.0:0.0	.	262	Q9NZI8	IF2B1_HUMAN	K	262	ENSP00000290341:E262K	ENSP00000290341:E262K	E	+	1	0	IGF2BP1	44472418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.878000	0.87231	2.655000	0.90218	0.655000	0.94253	GAG		0.502	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		8	91	0	0	0	1	0	8	91				
SEMA3E	9723	broad.mit.edu	37	7	83029528	83029528	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:83029528G>T	ENST00000307792.3	-	11	1649	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	SEMA3E_ENST00000427262.1_Silent_p.T334T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	394	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAGTCCTTGGTGGTTCCGT	0.388																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1180-1182)acC>acA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							174.0	162.0	166.0					7																	83029528		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029528G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1182C>A	7.37:g.83029528G>T						SEMA3E_ENST00000427262.1_Silent_p.T334T	p.T394T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			11	1649	-		Medulloblastoma(109;0.109)	394			Sema.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.1182C>A	CCDS34674.1																																																																																				0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		10	67	1	0	9.70103e-10	1	1.58072e-09	10	67				
CLTB	1212	broad.mit.edu	37	5	175843329	175843329	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:175843329C>A	ENST00000310418.4	-	1	241	c.36G>T	c.(34-36)gaG>gaT	p.E12D	CLTB_ENST00000345807.2_Missense_Mutation_p.E12D	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	12					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GGGCACCGCTCTCCGACGACG	0.716																																						ENST00000310418.4																			0				lung(1)	1						c.(34-36)gaG>gaT		clathrin, light chain B							15.0	20.0	18.0					5																	175843329		2133	4227	6360	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175843329C>A	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.36G>T	5.37:g.175843329C>A	ENSP00000309415:p.Glu12Asp					CLTB_ENST00000345807.2_Missense_Mutation_p.E12D	p.E12D	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	1	241	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	12					Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.36G>T	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591645	0.28357	.	.	ENSG00000175416	ENST00000310418;ENST00000345807;ENST00000502877	.	.	.	3.11	3.11	0.35812	.	0.273355	0.36002	N	0.002859	T	0.30008	0.0751	N	0.05510	-0.035	0.30475	N	0.772942	P;P	0.51057	0.927;0.941	D;D	0.71414	0.953;0.973	T	0.13072	-1.0523	9	0.11182	T	0.66	.	7.1649	0.25685	0.0:0.7938:0.0:0.2062	.	12;12	P09497-2;P09497	.;CLCB_HUMAN	D	12	.	ENSP00000309415:E12D	E	-	3	2	CLTB	175775935	0.998000	0.40836	1.000000	0.80357	0.771000	0.43674	0.446000	0.21694	2.037000	0.60232	0.313000	0.20887	GAG		0.716	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			7	11	1	0	0.0381472	1	0.0403421	7	11				
ATP13A4	84239	broad.mit.edu	37	3	193132481	193132481	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:193132481G>T	ENST00000342695.4	-	26	3223	c.2901C>A	c.(2899-2901)atC>atA	p.I967I	ATP13A4_ENST00000400270.2_5'UTR|ATP13A4_ENST00000392443.3_Silent_p.I948I|ATP13A4_ENST00000482964.1_5'Flank	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	967						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GAGGTGGAGAGATCAGCCGTC	0.453																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2899-2901)atC>atA		ATPase type 13A4							87.0	78.0	81.0					3																	193132481		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193132481G>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2901C>A	3.37:g.193132481G>T						ATP13A4_ENST00000392443.3_Silent_p.I948I|ATP13A4_ENST00000400270.2_5'UTR	p.I967I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	26	3223	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		967					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.2901C>A	CCDS3304.2																																																																																				0.453	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		6	64	1	0	5.18039e-06	1	7.33556e-06	6	64				
BEND7	222389	broad.mit.edu	37	10	13523095	13523095	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:13523095G>T	ENST00000396900.2	-	6	866	c.867C>A	c.(865-867)gaC>gaA	p.D289E	BEND7_ENST00000341083.3_Missense_Mutation_p.D237E|BEND7_ENST00000396898.2_Missense_Mutation_p.D302E|BEND7_ENST00000378605.3_Missense_Mutation_p.D250E			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	289	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GCATAAACACGTCAAAGCCTT	0.398																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(709-711)gaC>gaA		BEN domain containing 7							107.0	102.0	103.0					10																	13523095		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13523095G>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.867C>A	10.37:g.13523095G>T	ENSP00000380108:p.Asp289Glu					BEND7_ENST00000396900.2_Missense_Mutation_p.D289E|BEND7_ENST00000396898.2_Missense_Mutation_p.D302E|BEND7_ENST00000378605.3_Missense_Mutation_p.D250E	p.D237E	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			6	1007	-			289					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.711C>A		.	.	.	.	.	.	.	.	.	.	G	17.95	3.513661	0.64522	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.54866	0.55;0.56;0.61;0.64	5.97	1.14	0.20703	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	N	0.08118	0	0.39244	D	0.96391	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	T	0.53599	-0.8416	10	0.87932	D	0	-20.3146	9.8365	0.40973	0.6697:0.0:0.3303:0.0	.	302;237	E5RFC0;Q8N7W2-3	.;.	E	289;237;302;250	ENSP00000380108:D289E;ENSP00000345773:D237E;ENSP00000380107:D302E;ENSP00000367868:D250E	ENSP00000345773:D237E	D	-	3	2	BEND7	13563101	0.895000	0.30542	0.998000	0.56505	0.992000	0.81027	0.130000	0.15850	-0.036000	0.13669	-0.238000	0.12139	GAC		0.398	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		10	63	1	0	7.48243e-07	1	1.10552e-06	10	63				
MARCH8	220972	broad.mit.edu	37	10	45956740	45956740	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:45956740C>G	ENST00000319836.3	-	5	1111	c.362G>C	c.(361-363)cGc>cCc	p.R121P	MARCH8_ENST00000395769.2_Missense_Mutation_p.R121P|MARCH8_ENST00000395771.3_Missense_Mutation_p.R121P|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000453424.2_Missense_Mutation_p.R403P	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	121					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CTCGCAGCAGCGCGTGTCGGA	0.577																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1207-1209)cGc>cCc		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							73.0	68.0	69.0					10																	45956740		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45956740C>G	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.362G>C	10.37:g.45956740C>G	ENSP00000317087:p.Arg121Pro					MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000319836.3_Missense_Mutation_p.R121P|MARCH8_ENST00000395769.2_Missense_Mutation_p.R121P|MARCH8_ENST00000395771.3_Missense_Mutation_p.R121P	p.R403P			Q5T0T0	MARH8_HUMAN			6	1469	-			121					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1208G>C	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754784	0.89843	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.44083	0.93;0.93;0.93	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	L	0.53671	1.685	0.80722	D	1	D;P	0.89917	1.0;0.653	D;P	0.81914	0.995;0.54	T	0.54636	-0.8264	10	0.40728	T	0.16	-15.2186	17.7332	0.88384	0.0:1.0:0.0:0.0	.	121;285	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	P	121	ENSP00000379118:R121P;ENSP00000317087:R121P;ENSP00000379116:R121P	ENSP00000317087:R121P	R	-	2	0	MARCH8	45276746	1.000000	0.71417	0.998000	0.56505	0.665000	0.39181	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	CGC		0.577	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		6	37	0	0	0	1	0	6	37				
ARSK	153642	broad.mit.edu	37	5	94922395	94922395	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:94922395G>T	ENST00000380009.4	+	5	1034	c.829G>T	c.(829-831)Gca>Tca	p.A277S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	277					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GAATATTAGAGCATTTTATTA	0.308																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(829-831)Gca>Tca		arylsulfatase family, member K							62.0	66.0	65.0					5																	94922395		2202	4297	6499	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94922395G>T		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.829G>T	5.37:g.94922395G>T	ENSP00000369346:p.Ala277Ser						p.A277S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	5	1034	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	277					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.829G>T	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472973	0.84640	.	.	ENSG00000164291	ENST00000380009	D	0.99904	-7.69	5.93	5.06	0.68205	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.099665	0.64402	D	0.000002	D	0.99802	0.9915	M	0.67397	2.05	0.80722	D	1	D	0.58620	0.983	P	0.60415	0.874	D	0.96459	0.9340	10	0.66056	D	0.02	-23.4845	14.9955	0.71428	0.0682:0.0:0.9317:0.0	.	277	Q6UWY0	ARSK_HUMAN	S	277	ENSP00000369346:A277S	ENSP00000369346:A277S	A	+	1	0	ARSK	94948151	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.391000	0.66266	1.493000	0.48517	0.655000	0.94253	GCA		0.308	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		7	28	1	0	0.0381472	1	0.0403421	7	28				
SYNE1	23345	broad.mit.edu	37	6	152652823	152652823	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152652823T>G	ENST00000367255.5	-	78	13598	c.12997A>C	c.(12997-12999)Aaa>Caa	p.K4333Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.K4333Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.K4198Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.K4262Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.K4262Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4333					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTTCCTTTTAATGAGGTCC	0.428										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12997-12999)Aaa>Caa		spectrin repeat containing, nuclear envelope 1							146.0	136.0	139.0					6																	152652823		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652823T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12997A>C	6.37:g.152652823T>G	ENSP00000356224:p.Lys4333Gln	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.K4198Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.K4333Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.K4262Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.K4262Q	p.K4333Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13598	-		Ovarian(120;0.0955)	4333					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12997A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	6.168	0.399178	0.11696	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.84	3.38	0.38709	.	0.199190	0.35262	N	0.003324	T	0.10723	0.0262	L	0.39898	1.24	0.33614	D	0.603999	P;B;B;B	0.34412	0.453;0.349;0.349;0.28	B;B;B;B	0.33196	0.159;0.061;0.061;0.12	T	0.14420	-1.0473	10	0.14656	T	0.56	.	8.7759	0.34762	0.0:0.0661:0.1281:0.8058	.	4333;4333;4333;4262	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	4333;4262;4333;4262;4198	ENSP00000356224:K4333Q;ENSP00000396024:K4262Q;ENSP00000265368:K4333Q;ENSP00000390975:K4262Q;ENSP00000341887:K4198Q	ENSP00000265368:K4333Q	K	-	1	0	SYNE1	152694516	0.904000	0.30761	0.052000	0.19188	0.840000	0.47671	1.708000	0.37899	0.441000	0.26529	0.533000	0.62120	AAA		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	66	0	0	0	1	0	13	66				
PPP4R4	57718	broad.mit.edu	37	14	94700898	94700898	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94700898G>T	ENST00000304338.3	+	7	777		c.e7-1			NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4						negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACCTTCAGCATTAAGCGA	0.333																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.e7-1		protein phosphatase 4, regulatory subunit 4							106.0	98.0	101.0					14																	94700898		2203	4300	6503	SO:0001630	splice_region_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94700898G>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.624-1G>T	14.37:g.94700898G>T								NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			7	777	+								Q9BUF8|Q9HCF0	Splice_Site	SNP	ENST00000304338.3	37		CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459359	0.63401	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7314	0.85436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP4R4	93770651	1.000000	0.71417	0.994000	0.49952	0.673000	0.39480	8.678000	0.91211	2.687000	0.91594	0.655000	0.94253	.		0.333	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	Intron	4	19	1	0	0.00909568	1	0.00998677	4	19				
KIAA1683	80726	broad.mit.edu	37	19	18368452	18368452	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:18368452T>A	ENST00000600328.3	-	4	3274	c.3081A>T	c.(3079-3081)acA>acT	p.T1027T	KIAA1683_ENST00000600359.3_Silent_p.T981T|PDE4C_ENST00000355502.3_5'Flank|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.T1214T			Q9H0B3	K1683_HUMAN	KIAA1683	1027						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGTCAGATACTGTCCTGGCTC	0.662																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3640-3642)acA>acT		KIAA1683							31.0	33.0	32.0					19																	18368452		2196	4286	6482	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368452T>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3081A>T	19.37:g.18368452T>A						KIAA1683_ENST00000600328.2_Silent_p.T1027T|KIAA1683_ENST00000600359.2_Silent_p.T981T	p.T1214T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3857	-			0					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3642A>T	CCDS32958.1																																																																																				0.662	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			16	47	0	0	0	1	0	16	47				
SFMBT2	57713	broad.mit.edu	37	10	7214495	7214495	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:7214495T>G	ENST00000361972.4	-	18	2203	c.2113A>C	c.(2113-2115)Agg>Cgg	p.R705R	SFMBT2_ENST00000397167.1_Silent_p.R705R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	705					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGAAGACCTCCGTTTCTTC	0.642																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2113-2115)Agg>Cgg		Scm-like with four mbt domains 2							48.0	48.0	48.0					10																	7214495		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214495T>G	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2113A>C	10.37:g.7214495T>G						SFMBT2_ENST00000397167.1_Silent_p.R705R	p.R705R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			18	2203	-			705					A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.2113A>C	CCDS31138.1																																																																																				0.642	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		6	27	0	0	0	1	0	6	27				
FBXO21	23014	broad.mit.edu	37	12	117612563	117612563	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:117612563T>C	ENST00000330622.5	-	5	631	c.632A>G	c.(631-633)gAc>gGc	p.D211G	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Missense_Mutation_p.D211G			O94952	FBX21_HUMAN	F-box protein 21	211					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GAGGCTGATGTCGGAGAGAGG	0.453																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(631-633)gAc>gGc		F-box protein 21							141.0	119.0	127.0					12																	117612563		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117612563T>C	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.632A>G	12.37:g.117612563T>C	ENSP00000328187:p.Asp211Gly					FBXO21_ENST00000330622.5_Missense_Mutation_p.D211G|FBXO21_ENST00000549689.1_5'UTR	p.D211G	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	5	706	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		211					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.632A>G	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286328	0.59867	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.46819	0.86;0.86	5.32	5.32	0.75619	F-box domain, Skp2-like (1);	0.106892	0.64402	D	0.000008	T	0.57681	0.2070	L	0.45581	1.43	0.58432	D	0.999998	B;B;D	0.61697	0.115;0.319;0.99	B;B;P	0.57911	0.042;0.135;0.829	T	0.60337	-0.7283	10	0.59425	D	0.04	-12.5415	15.296	0.73910	0.0:0.0:0.0:1.0	.	127;211;211	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	G	211;127;127;211	ENSP00000414468:D211G;ENSP00000328187:D211G	ENSP00000257563:D127G	D	-	2	0	FBXO21	116096946	1.000000	0.71417	0.963000	0.40424	0.456000	0.32438	5.584000	0.67490	2.039000	0.60335	0.459000	0.35465	GAC		0.453	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		7	53	0	0	0	1	0	7	53				
PSD4	23550	broad.mit.edu	37	2	113950127	113950127	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:113950127G>A	ENST00000245796.6	+	6	1994	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	PSD4_ENST00000441564.3_Missense_Mutation_p.G572D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	600	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTGGAGGGCTTCCGGAAG	0.592																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1798-1800)gGc>gAc		pleckstrin and Sec7 domain containing 4							88.0	90.0	89.0					2																	113950127		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113950127G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1799G>A	2.37:g.113950127G>A	ENSP00000245796:p.Gly600Asp					PSD4_ENST00000441564.2_Missense_Mutation_p.G572D	p.G600D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			6	1994	+			600			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1799G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.760995	0.89932	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.33216	1.42;1.42	5.55	5.55	0.83447	SEC7-like (4);	0.052194	0.85682	D	0.000000	T	0.59224	0.2178	M	0.82132	2.575	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.81914	0.993;0.994;0.995	T	0.63216	-0.6687	10	0.72032	D	0.01	.	17.0044	0.86389	0.0:0.0:1.0:0.0	.	258;572;600	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	D	600;572	ENSP00000245796:G600D;ENSP00000413997:G572D	ENSP00000245796:G600D	G	+	2	0	PSD4	113666598	1.000000	0.71417	0.986000	0.45419	0.894000	0.52154	6.367000	0.73099	2.623000	0.88846	0.558000	0.71614	GGC		0.592	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		4	52	0	0	0	1	0	4	52				
LOC101927755	101927755	broad.mit.edu	37	17	58073356	58073356	+	lincRNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:58073356G>T	ENST00000586209.1	+	0	626																											CCCTAATCTGGGGTTGTGATT	0.348																																						ENST00000586209.1																			0																																																			101927755							g.chr17:58073356G>T																													17.37:g.58073356G>T														0	626	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.348	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	44	1	0	0.150653	1	0.155562	4	44				
HIST1H2AA	221613	broad.mit.edu	37	6	25726735	25726735	+	Missense_Mutation	SNP	C	C	A	rs377706958		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:25726735C>A	ENST00000297012.3	-	1	55	c.21G>T	c.(19-21)caG>caT	p.Q7H	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	7						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTTTTCCTCCCTGCTTCCCTC	0.517																																						ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(19-21)caG>caT		histone cluster 1, H2aa							472.0	364.0	401.0					6																	25726735		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726735C>A	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.21G>T	6.37:g.25726735C>A	ENSP00000297012:p.Gln7His						p.Q7H	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	55	-			7						Missense_Mutation	SNP	ENST00000297012.3	37	c.21G>T	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067708	0.20067	.	.	ENSG00000164508	ENST00000297012	T	0.42900	0.96	3.34	0.867	0.19085	Histone-fold (2);Histone H2A (1);	0.607716	0.13019	N	0.420226	T	0.11750	0.0286	L	0.31664	0.95	0.23899	N	0.996524	B	0.24721	0.11	B	0.18561	0.022	T	0.24083	-1.0170	10	0.66056	D	0.02	.	6.4538	0.21918	0.0:0.6519:0.0:0.3481	.	7	Q96QV6	H2A1A_HUMAN	H	7	ENSP00000297012:Q7H	ENSP00000297012:Q7H	Q	-	3	2	HIST1H2AA	25834714	0.946000	0.32159	0.054000	0.19295	0.061000	0.15899	-0.101000	0.10973	0.162000	0.19483	0.555000	0.69702	CAG		0.517	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		9	37	1	0	1.12685e-05	1	1.55492e-05	9	37				
MAPK7	5598	broad.mit.edu	37	17	19285706	19285706	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:19285706G>T	ENST00000308406.5	+	5	2476	c.2090G>T	c.(2089-2091)gGg>gTg	p.G697V	MAPK7_ENST00000395602.4_Missense_Mutation_p.G697V|MAPK7_ENST00000299612.7_Missense_Mutation_p.G558V|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.G697V|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	697	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCAGACGCCGGGGGAGCCCCT	0.637																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(2089-2091)gGg>gTg		mitogen-activated protein kinase 7							39.0	47.0	44.0					17																	19285706		2189	4265	6454	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19285706G>T	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.2090G>T	17.37:g.19285706G>T	ENSP00000311005:p.Gly697Val					MAPK7_ENST00000395602.4_Missense_Mutation_p.G697V|MAPK7_ENST00000299612.7_Missense_Mutation_p.G558V|MAPK7_ENST00000395604.3_Missense_Mutation_p.G697V|MAPK7_ENST00000571657.1_Intron	p.G697V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			5	2476	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		697			May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.2090G>T	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	G	1.969	-0.436923	0.04636	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.74632	-0.59;-0.86;-0.59;-0.59	5.26	3.15	0.36227	.	0.547984	0.19518	N	0.112352	T	0.65709	0.2717	L	0.51422	1.61	0.21386	N	0.999707	B	0.09022	0.002	B	0.06405	0.002	T	0.59553	-0.7433	10	0.56958	D	0.05	-3.9009	8.0799	0.30739	0.0:0.1749:0.6438:0.1813	.	697	Q13164	MK07_HUMAN	V	697;558;697;697	ENSP00000311005:G697V;ENSP00000299612:G558V;ENSP00000378968:G697V;ENSP00000378966:G697V	ENSP00000299612:G558V	G	+	2	0	MAPK7	19226299	0.263000	0.24083	0.016000	0.15963	0.043000	0.13939	0.987000	0.29603	1.237000	0.43756	-0.705000	0.03659	GGG		0.637	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		10	45	1	0	0.0581538	1	0.0614291	10	45				
UGT3A1	133688	broad.mit.edu	37	5	35957499	35957499	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:35957499T>C	ENST00000274278.3	-	5	1223	c.866A>G	c.(865-867)aAc>aGc	p.N289S	UGT3A1_ENST00000507113.1_Missense_Mutation_p.N255S|UGT3A1_ENST00000503189.1_Missense_Mutation_p.N289S|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	289						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCCCCAAAGTTGGCAATGAA	0.473																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(865-867)aAc>aGc		UDP glycosyltransferase 3 family, polypeptide A1							74.0	65.0	68.0					5																	35957499		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35957499T>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.866A>G	5.37:g.35957499T>C	ENSP00000274278:p.Asn289Ser					UGT3A1_ENST00000503189.1_Missense_Mutation_p.N289S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.N255S|UGT3A1_ENST00000513233.1_5'UTR	p.N289S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	1223	-	all_lung(31;0.000197)		289					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.866A>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.204516	0.00296	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.54279	0.58;0.58;0.58	3.28	2.13	0.27403	.	0.642260	0.15106	N	0.280257	T	0.16300	0.0392	N	0.01109	-1.01	0.09310	N	0.999997	B;B;B	0.14012	0.007;0.009;0.005	B;B;B	0.17098	0.009;0.017;0.012	T	0.36625	-0.9740	10	0.02654	T	1	.	5.3312	0.15934	0.0:0.2243:0.0:0.7757	.	255;289;289	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	S	289;289;255	ENSP00000274278:N289S;ENSP00000427079:N289S;ENSP00000426100:N255S	ENSP00000274278:N289S	N	-	2	0	UGT3A1	35993256	0.630000	0.27155	0.396000	0.26296	0.275000	0.26752	0.414000	0.21164	1.431000	0.47355	0.383000	0.25322	AAC		0.473	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		7	28	0	0	0	1	0	7	28				
CDH11	1009	broad.mit.edu	37	16	64984719	64984719	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:64984719C>A	ENST00000268603.4	-	12	2460	c.1845G>T	c.(1843-1845)ctG>ctT	p.L615L	CDH11_ENST00000394156.3_Silent_p.L615L|CDH11_ENST00000566827.1_Silent_p.L489L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	615					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGCCTGTGCTCAGGCCGGCGT	0.632			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1843-1845)ctG>ctT		cadherin 11, type 2, OB-cadherin (osteoblast)							81.0	62.0	68.0					16																	64984719		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984719C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1845G>T	16.37:g.64984719C>A		TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Silent_p.L615L|CDH11_ENST00000566827.1_Silent_p.L489L	p.L615L			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2298	-		Ovarian(137;0.0973)	615					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1845G>T	CCDS10803.1																																																																																				0.632	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		3	28	1	0	6.4e-05	1	8.33271e-05	3	28				
CCDC85A	114800	broad.mit.edu	37	2	56419951	56419951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:56419951G>A	ENST00000407595.2	+	2	1118	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	206										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACGTGCGGGATGTGGGTGA	0.667																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(616-618)Gat>Aat		coiled-coil domain containing 85A							28.0	36.0	33.0					2																	56419951		2169	4265	6434	SO:0001583	missense	114800							g.chr2:56419951G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.616G>A	2.37:g.56419951G>A	ENSP00000384040:p.Asp206Asn					RP11-482H16.1_ENST00000607540.1_RNA	p.D206N	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1118	+			206						Missense_Mutation	SNP	ENST00000407595.2	37	c.616G>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954477	0.92726	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84160	0.0428	9	0.49607	T	0.09	-20.8028	18.6862	0.91565	0.0:0.0:1.0:0.0	.	206	Q96PX6	CC85A_HUMAN	N	206	.	ENSP00000384040:D206N	D	+	1	0	CCDC85A	56273455	1.000000	0.71417	0.975000	0.42487	0.897000	0.52465	9.476000	0.97823	2.404000	0.81709	0.655000	0.94253	GAT		0.667	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			5	44	0	0	0	1	0	5	44				
ZUFSP	221302	broad.mit.edu	37	6	116967057	116967057	+	Missense_Mutation	SNP	G	G	T	rs141299898	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:116967057G>T	ENST00000368576.3	-	9	1752	c.1509C>A	c.(1507-1509)aaC>aaA	p.N503K		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	503							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ATAATGTTCGGTTTTTTTTCT	0.338													G|||	4	0.000798722	0.003	0.0	5008	,	,		16927	0.0		0.0	False		,,,				2504	0.0					ENST00000368576.3																			0				NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(1507-1509)aaC>aaA		zinc finger with UFM1-specific peptidase domain		G	LYS/ASN	4,4402	8.1+/-20.4	0,4,2199	149.0	145.0	146.0		1509	3.0	1.0	6	dbSNP_134	146	0,8600		0,0,4300	yes	missense	ZUFSP	NM_145062.2	94	0,4,6499	TT,TG,GG		0.0,0.0908,0.0308	benign	503/579	116967057	4,13002	2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116967057G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.1509C>A	6.37:g.116967057G>T	ENSP00000357565:p.Asn503Lys						p.N503K	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	9	1752	-			503					Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.1509C>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955803	0.53293	9.08E-4	0.0	ENSG00000153975	ENST00000368576	T	0.30182	1.54	5.65	2.95	0.34219	.	0.139171	0.64402	D	0.000005	T	0.16642	0.0400	L	0.60067	1.865	0.80722	D	1	P	0.44380	0.834	B	0.43052	0.406	T	0.01972	-1.1237	10	0.34782	T	0.22	0.2919	9.2393	0.37486	0.3439:0.0:0.6561:0.0	.	503	Q96AP4	ZUFSP_HUMAN	K	503	ENSP00000357565:N503K	ENSP00000357565:N503K	N	-	3	2	ZUFSP	117073750	1.000000	0.71417	0.984000	0.44739	0.702000	0.40608	0.819000	0.27308	0.338000	0.23692	0.655000	0.94253	AAC		0.338	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		6	41	1	0	0.0215528	1	0.0230314	6	41				
JOSD1	9929	broad.mit.edu	37	22	39085050	39085050	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:39085050C>T	ENST00000216039.5	-	3	1078	c.399G>A	c.(397-399)ctG>ctA	p.L133L		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	133	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TTTTGAGGGGCAGTTTCAGTG	0.557																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(397-399)ctG>ctA		Josephin domain containing 1							92.0	76.0	82.0					22																	39085050		2203	4300	6503	SO:0001819	synonymous_variant	9929						peptidase activity	g.chr22:39085050C>T		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.399G>A	22.37:g.39085050C>T							p.L133L	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			3	1078	-	Melanoma(58;0.04)		133			Josephin.		A8K712	Silent	SNP	ENST00000216039.5	37	c.399G>A	CCDS13976.1	.	.	.	.	.	.	.	.	.	.	C	9.791	1.177800	0.21787	.	.	ENSG00000100221	ENST00000545590	.	.	.	5.75	2.35	0.29111	.	.	.	.	.	T	0.56262	0.1973	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52533	-0.8563	4	.	.	.	.	8.1814	0.31313	0.3102:0.3482:0.3416:0.0	.	.	.	.	T	85	.	.	A	-	1	0	JOSD1	37414996	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.523000	0.35932	1.397000	0.46682	0.650000	0.86243	GCC		0.557	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		8	60	0	0	0	1	0	8	60				
MACROD2	140733	broad.mit.edu	37	20	15913980	15913980	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:15913980G>T	ENST00000310348.4	+	11	835	c.835G>T	c.(835-837)Gca>Tca	p.A279S	MACROD2_ENST00000402914.1_Missense_Mutation_p.A44S|MACROD2_ENST00000378058.3_Missense_Mutation_p.A44S|MACROD2_ENST00000217246.4_Missense_Mutation_p.A279S			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	279	Glu-rich.				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)				GAGCCAAGATGCAGGTAGGCT	0.418																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(835-837)Gca>Tca		MACRO domain containing 2							116.0	105.0	109.0					20																	15913980		2203	4300	6503	SO:0001583	missense	140733							g.chr20:15913980G>T	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.835G>T	20.37:g.15913980G>T	ENSP00000309809:p.Ala279Ser					MACROD2_ENST00000402914.1_Missense_Mutation_p.A44S|MACROD2_ENST00000310348.4_Missense_Mutation_p.A279S|MACROD2_ENST00000378058.3_Missense_Mutation_p.A44S	p.A279S	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			11	1230	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	279			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.835G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027317	0.35797	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.51817	2.43;2.44;0.69;0.69	5.84	2.87	0.33458	.	0.000000	0.51477	D	0.000099	T	0.35885	0.0947	L	0.50333	1.59	0.21355	N	0.999713	B;B	0.33694	0.297;0.421	B;B	0.30646	0.055;0.118	T	0.14587	-1.0467	10	0.18276	T	0.48	-21.0497	9.5857	0.39514	0.2162:0.0:0.7838:0.0	.	279;279	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	279;279;44;44	ENSP00000217246:A279S;ENSP00000309809:A279S;ENSP00000385290:A44S;ENSP00000367297:A44S	ENSP00000217246:A279S	A	+	1	0	MACROD2	15861980	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	2.023000	0.41040	0.824000	0.34613	-0.216000	0.12614	GCA		0.418	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		5	22	1	0	0.184627	1	0.188945	5	22				
GOLGA1	2800	broad.mit.edu	37	9	127684031	127684031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:127684031C>A	ENST00000373555.4	-	9	1035	c.702G>T	c.(700-702)caG>caT	p.Q234H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	234					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGTAGTGTCTCTGCAATTCTT	0.493																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(700-702)caG>caT		golgin A1							331.0	287.0	302.0					9																	127684031		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127684031C>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.702G>T	9.37:g.127684031C>A	ENSP00000362656:p.Gln234His						p.Q234H	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			9	1035	-			234					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.702G>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204444	0.79127	.	.	ENSG00000136935	ENST00000373555	T	0.24908	1.83	5.0	5.0	0.66597	.	0.000000	0.43260	U	0.000596	T	0.51991	0.1707	M	0.72118	2.19	0.50313	D	0.999865	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.54814	-0.8237	10	0.66056	D	0.02	-14.8183	17.6659	0.88203	0.0:1.0:0.0:0.0	.	133;234	Q59HA1;Q92805	.;GOGA1_HUMAN	H	234	ENSP00000362656:Q234H	ENSP00000362656:Q234H	Q	-	3	2	GOLGA1	126723852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.802000	0.62539	2.488000	0.83962	0.563000	0.77884	CAG		0.493	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		13	135	1	0	2.27111e-07	1	3.45555e-07	13	135				
DYX1C1	161582	broad.mit.edu	37	15	55783354	55783354	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:55783354T>A	ENST00000321149.3	-	4	739	c.372A>T	c.(370-372)gaA>gaT	p.E124D	DYX1C1_ENST00000380679.1_Missense_Mutation_p.E124D|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E124D|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E124D|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E124D	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	124					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ATTTTTGATCTTCCCGCTTTG	0.378																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(370-372)gaA>gaT		dyslexia susceptibility 1 candidate 1							303.0	248.0	267.0					15																	55783354		2193	4292	6485	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55783354T>A		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.372A>T	15.37:g.55783354T>A	ENSP00000323275:p.Glu124Asp					DYX1C1_ENST00000380679.1_Missense_Mutation_p.E124D|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E124D|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E124D|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E124D|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.E124D	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	4	739	-			124					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.372A>T	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422655	0.83559	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.13901	2.55;2.55;2.56;3.21;2.56	5.72	2.12	0.27331	HSP20-like chaperone (1);	0.144833	0.44688	U	0.000434	T	0.20495	0.0493	L	0.32530	0.975	0.36221	D	0.851989	D;D;D	0.71674	0.998;0.969;0.99	D;P;P	0.63877	0.919;0.585;0.748	T	0.06499	-1.0823	10	0.62326	D	0.03	.	8.8613	0.35258	0.0:0.219:0.0:0.781	.	124;124;124	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	D	124	ENSP00000403412:E124D;ENSP00000370054:E124D;ENSP00000402640:E124D;ENSP00000323275:E124D;ENSP00000299561:E124D	ENSP00000323275:E124D	E	-	3	2	DYX1C1	53570646	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.990000	0.29642	0.104000	0.17725	0.523000	0.50628	GAA		0.378	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		4	50	0	0	0	1	0	4	50				
ITGBL1	9358	broad.mit.edu	37	13	102359162	102359162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:102359162C>T	ENST00000376180.3	+	9	1408	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	ITGBL1_ENST00000376162.3_Missense_Mutation_p.L304F|ITGBL1_ENST00000545560.2_Missense_Mutation_p.L256F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	397	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTTGGAAAGCTCTGCCAACA	0.493																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(1189-1191)Ctc>Ttc		integrin, beta-like 1 (with EGF-like repeat domains)							160.0	134.0	143.0					13																	102359162		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359162C>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1189C>T	13.37:g.102359162C>T	ENSP00000365351:p.Leu397Phe					ITGBL1_ENST00000376162.3_Missense_Mutation_p.L304F|ITGBL1_ENST00000545560.2_Missense_Mutation_p.L256F	p.L397F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			9	1408	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		397			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1189C>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868614	0.32977	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	T;T;T	0.67171	-0.25;-0.25;-0.25	5.91	5.05	0.67936	EGF, extracellular (1);	0.125577	0.53938	D	0.000046	T	0.64170	0.2574	N	0.20766	0.605	0.42273	D	0.992063	P;D	0.89917	0.864;1.0	P;D	0.87578	0.798;0.998	T	0.60767	-0.7198	10	0.10377	T	0.69	.	8.4306	0.32755	0.0:0.7422:0.1551:0.1027	.	256;397	B3KTP1;O95965	.;ITGBL_HUMAN	F	397;305;256;256;304	ENSP00000365351:L397F;ENSP00000439903:L256F;ENSP00000365332:L304F	ENSP00000365332:L304F	L	+	1	0	ITGBL1	101157163	1.000000	0.71417	0.746000	0.31095	0.979000	0.70002	1.786000	0.38694	1.478000	0.48253	0.655000	0.94253	CTC		0.493	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		4	46	0	0	0	1	0	4	46				
PHF21B	112885	broad.mit.edu	37	22	45312464	45312464	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:45312464C>A	ENST00000313237.5	-	4	410	c.260G>T	c.(259-261)gGc>gTc	p.G87V	PHF21B_ENST00000447824.3_Missense_Mutation_p.G75V|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87V|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75V	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	87							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCGGTCCCGGCCCGGGGCAAC	0.632																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(259-261)gGc>gTc		PHD finger protein 21B							39.0	44.0	42.0					22																	45312464		2203	4299	6502	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312464C>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.260G>T	22.37:g.45312464C>A	ENSP00000324403:p.Gly87Val					PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.G75V|PHF21B_ENST00000447824.3_Missense_Mutation_p.G75V|PHF21B_ENST00000396103.3_Missense_Mutation_p.G87V	p.G87V	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	410	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	87					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.260G>T	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688637	0.68271	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.06	5.06	0.68205	.	0.453943	0.21957	N	0.066653	T	0.35711	0.0941	L	0.40543	1.245	0.58432	D	0.999996	D;P;P;P	0.58268	0.982;0.897;0.835;0.917	P;P;B;B	0.53450	0.726;0.485;0.291;0.421	T	0.03259	-1.1055	10	0.36615	T	0.2	-26.9779	18.4696	0.90767	0.0:1.0:0.0:0.0	.	75;87;75;87	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	V	87;87;75;75;75	ENSP00000324403:G87V;ENSP00000379410:G87V;ENSP00000385105:G75V;ENSP00000388619:G75V;ENSP00000401294:G75V	ENSP00000324403:G87V	G	-	2	0	PHF21B	43691128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.056000	0.64287	2.346000	0.79739	0.655000	0.94253	GGC		0.632	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		11	40	1	0	3.86212e-05	1	5.09224e-05	11	40				
NCKAP5L	57701	broad.mit.edu	37	12	50191129	50191129	+	Missense_Mutation	SNP	C	C	T	rs200809419		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50191129C>T	ENST00000335999.6	-	8	715	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	168	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGGGTGGGGCGGCTGGGGGG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14776	0.0		0.0	False		,,,				2504	0.0					ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(514-516)Gcc>Acc		NCK-associated protein 5-like							12.0	15.0	14.0					12																	50191129		1872	4086	5958	SO:0001583	missense	57701							g.chr12:50191129C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.514G>A	12.37:g.50191129C>T	ENSP00000337998:p.Ala172Thr						p.A172T	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	715	-			168			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.514G>A	CCDS41781.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.582	0.108210	0.08780	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.46063	0.88	4.48	-1.38	0.09027	.	.	.	.	.	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31336	-0.9947	9	0.06236	T	0.91	-0.2958	9.5404	0.39248	0.0:0.4583:0.0:0.5417	.	168	E2QRB5	.	T	172;168	ENSP00000337998:A172T	ENSP00000337998:A172T	A	-	1	0	NCKAP5L	48477396	0.000000	0.05858	0.005000	0.12908	0.959000	0.62525	-1.141000	0.03207	-0.552000	0.06167	-0.497000	0.04613	GCC		0.627	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		3	11	0	0	0	1	0	3	11				
GRWD1	83743	broad.mit.edu	37	19	48954341	48954341	+	Silent	SNP	G	G	T	rs184556377	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:48954341G>T	ENST00000253237.5	+	6	1109	c.876G>T	c.(874-876)cgG>cgT	p.R292R		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	292						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGGACATCCGGGCAGCCCCCA	0.662																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(874-876)cgG>cgT		glutamate-rich WD repeat containing 1							54.0	57.0	56.0					19																	48954341		2203	4300	6503	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48954341G>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.876G>T	19.37:g.48954341G>T							p.R292R	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	6	1109	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	292					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.876G>T	CCDS12720.1																																																																																				0.662	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		6	35	1	0	0.00198382	1	0.00230193	6	35				
LIN28B	389421	broad.mit.edu	37	6	105474180	105474180	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:105474180T>A	ENST00000345080.4	+	3	409	c.206T>A	c.(205-207)cTa>cAa	p.L69Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	69	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CAGAGCAAACTATTCATGGAA	0.338																																						ENST00000345080.4																			0				large_intestine(1)|lung(10)|ovary(1)	12						c.(205-207)cTa>cAa		lin-28 homolog B (C. elegans)							72.0	81.0	78.0					6																	105474180		2197	4298	6495	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105474180T>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.206T>A	6.37:g.105474180T>A	ENSP00000344401:p.Leu69Gln						p.L69Q	NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN			3	409	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	69			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.206T>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656249	0.88056	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.92	5.92	0.95590	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87444	0.2397	9	0.87932	D	0	-9.6214	16.356	0.83235	0.0:0.0:0.0:1.0	.	46;69	A7E2T3;Q6ZN17	.;LN28B_HUMAN	Q	69	.	ENSP00000344401:L69Q	L	+	2	0	LIN28B	105580873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.013000	0.88655	2.253000	0.74438	0.528000	0.53228	CTA		0.338	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		9	79	0	0	0	1	0	9	79				
OR9A2	135924	broad.mit.edu	37	7	142723572	142723572	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142723572G>A	ENST00000350513.2	-	1	710	c.648C>T	c.(646-648)taC>taT	p.Y216Y		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	216						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(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGGAGATAATGTAGGTGTAGG	0.463																																						ENST00000350513.2																			0				central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(646-648)taC>taT		olfactory receptor, family 9, subfamily A, member 2							82.0	89.0	87.0					7																	142723572		2203	4300	6503	SO:0001819	synonymous_variant	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723572G>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.648C>T	7.37:g.142723572G>A							p.Y216Y	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	710	-	Melanoma(164;0.059)		216					B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.648C>T	CCDS34767.1																																																																																				0.463	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			5	60	0	0	0	1	0	5	60				
PLEC	5339	broad.mit.edu	37	8	144994063	144994063	+	Missense_Mutation	SNP	C	C	A	rs201369301	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:144994063C>A	ENST00000322810.4	-	32	10506	c.10337G>T	c.(10336-10338)cGt>cTt	p.R3446L	PLEC_ENST00000356346.3_Missense_Mutation_p.R3295L|PLEC_ENST00000398774.2_Missense_Mutation_p.R3277L|PLEC_ENST00000527096.1_Missense_Mutation_p.R3332L|PLEC_ENST00000354958.2_Missense_Mutation_p.R3287L|PLEC_ENST00000436759.2_Missense_Mutation_p.R3336L|PLEC_ENST00000357649.2_Missense_Mutation_p.R3313L|PLEC_ENST00000345136.3_Missense_Mutation_p.R3309L|PLEC_ENST00000354589.3_Missense_Mutation_p.R3309L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3446	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						CACAGGGGCACGGAGGCCGCT	0.622																																						ENST00000322810.4																			0				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						c.(10336-10338)cGt>cTt		plectin							34.0	41.0	39.0					8																	144994063		2080	4201	6281	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994063C>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.10337G>T	8.37:g.144994063C>A	ENSP00000323856:p.Arg3446Leu					PLEC_ENST00000436759.2_Missense_Mutation_p.R3336L|PLEC_ENST00000356346.3_Missense_Mutation_p.R3295L|PLEC_ENST00000527096.1_Missense_Mutation_p.R3332L|PLEC_ENST00000357649.2_Missense_Mutation_p.R3313L|PLEC_ENST00000345136.3_Missense_Mutation_p.R3309L|PLEC_ENST00000398774.2_Missense_Mutation_p.R3277L|PLEC_ENST00000354589.3_Missense_Mutation_p.R3309L|PLEC_ENST00000354958.2_Missense_Mutation_p.R3287L	p.R3446L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10506	-			3446			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10337G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657122	0.47467	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.11	5.11	0.69529	.	0.000000	0.64402	U	0.000008	D	0.85427	0.5694	M	0.84082	2.675	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.993;0.997;0.997;0.997;0.997	D	0.86378	0.1727	10	0.48119	T	0.1	.	18.1535	0.89684	0.0:1.0:0.0:0.0	.	3336;3295;3287;3446;3277;3309;3313;3309	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	3309;3313;3309;3277;3446;3287;3295;3336;3332	ENSP00000344848:R3309L;ENSP00000350277:R3313L;ENSP00000346602:R3309L;ENSP00000381756:R3277L;ENSP00000323856:R3446L;ENSP00000347044:R3287L;ENSP00000348702:R3295L;ENSP00000388180:R3336L;ENSP00000434583:R3332L	ENSP00000323856:R3446L	R	-	2	0	PLEC	145066051	0.999000	0.42202	0.889000	0.34880	0.924000	0.55760	4.865000	0.62998	2.367000	0.80283	0.448000	0.29417	CGT		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	46	1	0	0.00198382	1	0.00230193	7	46				
GLB1L3	112937	broad.mit.edu	37	11	134147782	134147782	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:134147782C>A	ENST00000431683.2	+	3	338	c.338C>A	c.(337-339)gCc>gAc	p.A113D	GLB1L3_ENST00000389887.5_Missense_Mutation_p.A113D	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	113					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGCTGAAGGCCTGTGGCTTC	0.597																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(337-339)gCc>gAc		galactosidase, beta 1-like 3							40.0	44.0	43.0					11																	134147782		2201	4297	6498	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134147782C>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.338C>A	11.37:g.134147782C>A	ENSP00000396615:p.Ala113Asp					GLB1L3_ENST00000431683.2_Missense_Mutation_p.A113D	p.A113D			Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	3	2834	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	113					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.338C>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666569	0.96745	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.98296	-4.85;-4.85	5.09	5.09	0.68999	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.98823	0.9603	M	0.82193	2.58	0.80722	D	1	D;D	0.64830	0.994;0.989	P;D	0.66716	0.88;0.946	D	0.99174	1.0865	9	0.72032	D	0.01	.	15.8704	0.79115	0.0:1.0:0.0:0.0	.	113;113	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	D	113	ENSP00000374537:A113D;ENSP00000396615:A113D	ENSP00000374537:A113D	A	+	2	0	GLB1L3	133652992	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.957000	0.76019	2.813000	0.96785	0.591000	0.81541	GCC		0.597	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		5	16	1	0	0.014758	1	0.0159185	5	16				
CFHR5	81494	broad.mit.edu	37	1	196971713	196971713	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196971713T>A	ENST00000256785.4	+	8	1358	c.1249T>A	c.(1249-1251)Tgt>Agt	p.C417S	CFHR5_ENST00000367414.5_Missense_Mutation_p.C441S			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	417	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGCTGTTCTCTGTAAAGAAAA	0.383																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1321-1323)Tgt>Agt		complement factor H-related 5							79.0	83.0	82.0					1																	196971713		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196971713T>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1249T>A	1.37:g.196971713T>A	ENSP00000256785:p.Cys417Ser					CFHR5_ENST00000256785.4_Missense_Mutation_p.C417S	p.C441S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			8	1377	+			417			Sushi 7.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1321T>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126705	0.37533	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.99778	-6.73;-6.73	3.76	2.58	0.30949	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99834	0.9925	H	0.98133	4.155	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99418	1.0932	9	0.87932	D	0	.	7.2283	0.26028	0.0:0.0:0.2277:0.7723	.	417	Q9BXR6	FHR5_HUMAN	S	441;417	ENSP00000356384:C441S;ENSP00000256785:C417S	ENSP00000256785:C417S	C	+	1	0	CFHR5	195238336	0.884000	0.30299	0.004000	0.12327	0.001000	0.01503	2.333000	0.43912	0.419000	0.25927	-0.644000	0.03951	TGT		0.383	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		3	13	0	0	0	1	0	3	13				
KCNC2	3747	broad.mit.edu	37	12	75601342	75601342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:75601342C>A	ENST00000549446.1	-	2	1102	c.422G>T	c.(421-423)tGg>tTg	p.W141L	KCNC2_ENST00000540018.1_Missense_Mutation_p.W141L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W141L|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	141					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTCGATGCCCCAGAAGGCCAG	0.672																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(421-423)tGg>tTg		potassium voltage-gated channel, Shaw-related subfamily, member 2							36.0	40.0	39.0					12																	75601342		2203	4299	6502	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601342C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.422G>T	12.37:g.75601342C>A	ENSP00000449253:p.Trp141Leu					KCNC2_ENST00000341669.3_Missense_Mutation_p.W141L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W141L|KCNC2_ENST00000540018.1_Missense_Mutation_p.W141L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W141L|KCNC2_ENST00000548513.1_Missense_Mutation_p.W141L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W141L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W141L	p.W141L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	1102	-			141					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.422G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757108	0.69648	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	3.52	3.52	0.40303	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.49305	D	0.000159	T	0.77685	0.4167	H	0.97516	4.02	0.80722	D	1	B;B;B;B;P	0.50369	0.349;0.349;0.231;0.158;0.934	B;B;B;B;P	0.61874	0.331;0.331;0.22;0.22;0.895	D	0.86878	0.2040	10	0.87932	D	0	.	15.6108	0.76716	0.0:1.0:0.0:0.0	.	141;141;141;141;141	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	L	141	ENSP00000448301:W141L;ENSP00000449941:W141L;ENSP00000449253:W141L;ENSP00000340121:W141L;ENSP00000298972:W141L;ENSP00000319877:W141L;ENSP00000438423:W141L;ENSP00000376966:W141L	ENSP00000298972:W141L	W	-	2	0	KCNC2	73887609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.370000	0.79589	1.970000	0.57323	0.563000	0.77884	TGG		0.672	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		5	18	1	0	1.23904e-05	1	1.68943e-05	5	18				
GRM3	2913	broad.mit.edu	37	7	86415996	86415996	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:86415996C>A	ENST00000361669.2	+	3	1987	c.888C>A	c.(886-888)acC>acA	p.T296T	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.T168T|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Silent_p.T294T|GRM3_ENST00000439827.1_Silent_p.T296T|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	296					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCTCCTTCACCTGGGTGGCCA	0.682																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(886-888)acC>acA		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						31.0	36.0	35.0					7																	86415996		2200	4294	6494	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415996C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.888C>A	7.37:g.86415996C>A						GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.T296T|GRM3_ENST00000394720.2_Silent_p.T294T|GRM3_ENST00000536043.1_Silent_p.T168T	p.T296T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1987	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		296					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.888C>A	CCDS5600.1																																																																																				0.682	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			10	37	1	0	0.00621372	1	0.00702387	10	37				
RACGAP1	29127	broad.mit.edu	37	12	50388083	50388083	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:50388083G>A	ENST00000427314.2	-	14	1393	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	RACGAP1_ENST00000434422.1_Silent_p.D390D|RACGAP1_ENST00000551016.1_Silent_p.D390D|RACGAP1_ENST00000547905.1_Silent_p.D390D|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000454520.2_Silent_p.D390D|RACGAP1_ENST00000312377.5_Silent_p.D390D	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTACTGTGCGGTCACAGCCAG	0.393																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(1168-1170)gaC>gaT		Rac GTPase activating protein 1							108.0	113.0	111.0					12																	50388083		2203	4300	6503	SO:0001819	synonymous_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50388083G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1170C>T	12.37:g.50388083G>A						RACGAP1_ENST00000312377.5_Silent_p.D390D|RACGAP1_ENST00000551016.1_Silent_p.D390D|RACGAP1_ENST00000547905.1_Silent_p.D390D|RACGAP1_ENST00000454520.2_Silent_p.D390D|RACGAP1_ENST00000427314.2_Silent_p.D390D	p.D390D			Q9H0H5	RGAP1_HUMAN			13	1471	-			390			Rho-GAP.			Silent	SNP	ENST00000427314.2	37	c.1170C>T	CCDS8795.1																																																																																				0.393	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		8	69	0	0	0	1	0	8	69				
SIDT1	54847	broad.mit.edu	37	3	113286509	113286509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:113286509G>T	ENST00000264852.4	+	3	1193	c.467G>T	c.(466-468)gGt>gTt	p.G156V	SIDT1_ENST00000393830.3_Missense_Mutation_p.G156V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	156					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCACCCCTGGGTGCTCAGTAC	0.512																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(466-468)gGt>gTt		SID1 transmembrane family, member 1							158.0	149.0	152.0					3																	113286509		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113286509G>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.467G>T	3.37:g.113286509G>T	ENSP00000264852:p.Gly156Val					SIDT1_ENST00000393830.3_Missense_Mutation_p.G156V	p.G156V	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			3	1193	+			156					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.467G>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575197	0.65878	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	.	0.197635	0.35970	N	0.002878	T	0.08223	0.0205	N	0.19112	0.55	0.32121	N	0.588009	P	0.37548	0.599	B	0.34385	0.181	T	0.07366	-1.0776	10	0.49607	T	0.09	-14.6041	6.6643	0.23032	0.1037:0.0:0.7213:0.1751	.	156	Q9NXL6	SIDT1_HUMAN	V	156	ENSP00000264852:G156V;ENSP00000377416:G156V	ENSP00000264852:G156V	G	+	2	0	SIDT1	114769199	0.243000	0.23878	0.973000	0.42090	0.920000	0.55202	1.722000	0.38042	2.941000	0.99782	0.655000	0.94253	GGT		0.512	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		13	105	1	0	9.31168e-06	1	1.29658e-05	13	105				
PRRG3	79057	broad.mit.edu	37	X	150869492	150869492	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:150869492G>T	ENST00000370353.3	+	4	1073	c.683G>T	c.(682-684)gGc>gTc	p.G228V	PRRG3_ENST00000538575.1_Missense_Mutation_p.G228V			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	228						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAACCCTGGCGCTGACAAG	0.547																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(682-684)gGc>gTc		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							85.0	76.0	79.0					X																	150869492		2203	4299	6502	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869492G>T	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.683G>T	X.37:g.150869492G>T	ENSP00000359378:p.Gly228Val					PRRG3_ENST00000538575.1_Missense_Mutation_p.G228V	p.G228V			Q9BZD7	TMG3_HUMAN			4	1073	+	Acute lymphoblastic leukemia(192;6.56e-05)		228					A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.683G>T	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800504	0.16397	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98296	-4.85;-4.85	4.29	3.42	0.39159	.	0.424725	0.20162	N	0.097934	D	0.93491	0.7923	N	0.14661	0.345	0.20764	N	0.999851	B	0.09022	0.002	B	0.12156	0.007	D	0.85364	0.1109	9	.	.	.	.	9.5333	0.39207	0.108:0.0:0.892:0.0	.	228	Q9BZD7	TMG3_HUMAN	V	228	ENSP00000440217:G228V;ENSP00000359378:G228V	.	G	+	2	0	PRRG3	150620148	0.000000	0.05858	0.861000	0.33841	0.529000	0.34654	0.407000	0.21049	0.934000	0.37316	0.594000	0.82650	GGC		0.547	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		3	18	1	0	2.56e-06	1	3.676e-06	3	18				
OR5D13	390142	broad.mit.edu	37	11	55541466	55541466	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55541466G>A	ENST00000361760.1	+	1	553	c.553G>A	c.(553-555)Gta>Ata	p.V185I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	185						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGACCACTCTGTAATTGTTTC	0.388																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(553-555)Gta>Ata		olfactory receptor, family 5, subfamily D, member 13							118.0	115.0	116.0					11																	55541466		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541466G>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.553G>A	11.37:g.55541466G>A	ENSP00000354800:p.Val185Ile						p.V185I	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	553	+		all_epithelial(135;0.196)	185					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.553G>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330634	0.24167	.	.	ENSG00000198877	ENST00000361760	T	0.00091	8.74	3.3	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.570900	0.13068	U	0.416305	T	0.00178	0.0005	L	0.31294	0.92	0.09310	N	1	P	0.41569	0.755	P	0.51297	0.665	T	0.39014	-0.9634	10	0.87932	D	0	-7.9122	2.4389	0.04490	0.112:0.3108:0.405:0.1721	.	185	Q8NGL4	OR5DD_HUMAN	I	185	ENSP00000354800:V185I	ENSP00000354800:V185I	V	+	1	0	OR5D13	55298042	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.331000	0.07914	0.235000	0.21160	-0.499000	0.04595	GTA		0.388	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		9	119	0	0	0	1	0	9	119				
PROKR2	128674	broad.mit.edu	37	20	5282689	5282689	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5282689C>G	ENST00000217270.3	-	2	1151	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	PROKR2_ENST00000546004.1_Missense_Mutation_p.K384N	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	384					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGTGGGTCACTTCAGCCTGA	0.552										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(1150-1152)aaG>aaC		prokineticin receptor 2							109.0	95.0	99.0					20																	5282689		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282689C>G	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1152G>C	20.37:g.5282689C>G	ENSP00000217270:p.Lys384Asn	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.K384N	p.K384N			Q8NFJ6	PKR2_HUMAN			3	1398	-			384					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.1152G>C	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854087	0.51270	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.72615	-0.67;-0.67	5.2	4.26	0.50523	.	0.054933	0.64402	D	0.000001	T	0.70263	0.3204	M	0.72479	2.2	0.40204	D	0.977559	P	0.52577	0.954	P	0.47044	0.535	T	0.74717	-0.3571	10	0.72032	D	0.01	.	7.0034	0.24823	0.0:0.8116:0.0:0.1884	.	384	Q8NFJ6	PKR2_HUMAN	N	384	ENSP00000440790:K384N;ENSP00000217270:K384N	ENSP00000217270:K384N	K	-	3	2	PROKR2	5230689	0.997000	0.39634	0.998000	0.56505	0.735000	0.41995	0.544000	0.23253	2.441000	0.82636	0.655000	0.94253	AAG		0.552	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		5	20	0	0	0	1	0	5	20				
ISG15	9636	broad.mit.edu	37	1	949561	949561	+	Silent	SNP	C	C	A	rs1126663		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:949561C>A	ENST00000379389.4	+	2	352	c.201C>A	c.(199-201)ccC>ccA	p.P67P	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	67	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCCTGGGCCCCGGCAGCACGG	0.657																																						ENST00000379389.4																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(199-201)ccC>ccA		ISG15 ubiquitin-like modifier							44.0	45.0	45.0					1																	949561		2203	4299	6502	SO:0001819	synonymous_variant	9636				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949561C>A	BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.201C>A	1.37:g.949561C>A							p.P67P	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	352	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	67			Ubiquitin-like 1.		Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	ENST00000379389.4	37	c.201C>A	CCDS6.1																																																																																				0.657	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1	NM_005101		6	47	1	0	3.59834e-05	1	4.79257e-05	6	47				
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					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.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(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)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	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	GRCh37	CM060208	CDKN2A	M	rs121913389	c.(328-330)tgG>tgA		cyclin-dependent kinase inhibitor 2A							18.0	21.0	20.0					9																	21971028		2198	4295	6493	SO:0001587	stop_gained	1029				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 kinase binding	g.chr9:21971028C>T	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.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron	p.W110*	NM_000077.4	NP_000068.1	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	600	-		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)	110					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	17	0	0	0	1	0	10	17				
CD163L1	283316	broad.mit.edu	37	12	7559182	7559182	+	Missense_Mutation	SNP	C	C	G	rs192198441		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:7559182C>G	ENST00000313599.3	-	5	1090	c.1033G>C	c.(1033-1035)Gga>Cga	p.G345R	CD163L1_ENST00000396630.1_Missense_Mutation_p.G345R|CD163L1_ENST00000416109.2_Missense_Mutation_p.G355R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	345	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGACGGTTCCGGAATGTCTG	0.428																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1033-1035)Gga>Cga		CD163 molecule-like 1							106.0	94.0	98.0					12																	7559182		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559182C>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1033G>C	12.37:g.7559182C>G	ENSP00000315945:p.Gly345Arg					CD163L1_ENST00000416109.2_Missense_Mutation_p.G355R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G345R	p.G345R			Q9NR16	C163B_HUMAN			5	1090	-			345			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1033G>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	0.638	-0.814641	0.02776	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35605	1.3;1.3;1.3	1.75	1.75	0.24633	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.42449	0.1203	L	0.55743	1.74	0.09310	N	1	B;B	0.29571	0.249;0.249	P;P	0.48141	0.568;0.568	T	0.48433	-0.9036	9	0.29301	T	0.29	.	4.1875	0.10405	0.0:0.7897:0.0:0.2103	.	355;345	E7EVK4;Q9NR16	.;C163B_HUMAN	R	345;355;345	ENSP00000315945:G345R;ENSP00000393474:G355R;ENSP00000379871:G345R	ENSP00000315945:G345R	G	-	1	0	CD163L1	7450449	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	1.294000	0.33365	1.263000	0.44181	0.305000	0.20034	GGA		0.428	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		7	50	0	0	0	1	0	7	50				
TRIO	7204	broad.mit.edu	37	5	14488184	14488184	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:14488184G>T	ENST00000344204.4	+	48	7471	c.7447G>T	c.(7447-7449)Ggc>Tgc	p.G2483C	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2483					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAGAAGGGGGGCTCCTTCTG	0.741																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(7447-7449)Ggc>Tgc		trio Rho guanine nucleotide exchange factor							7.0	9.0	8.0					5																	14488184		1827	3829	5656	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14488184G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7447G>T	5.37:g.14488184G>T	ENSP00000339299:p.Gly2483Cys					TRIO_ENST00000537187.1_Intron	p.G2483C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			48	7471	+	Lung NSC(4;0.000742)		2483					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7447G>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	g	18.72	3.683951	0.68157	.	.	ENSG00000038382	ENST00000344204;ENST00000513206	T	0.66638	-0.22	4.99	4.99	0.66335	.	0.115340	0.64402	D	0.000014	T	0.70386	0.3218	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.71948	-0.4438	10	0.46703	T	0.11	.	13.7825	0.63091	0.0:0.0:1.0:0.0	.	2483;2483	O75962-5;O75962	.;TRIO_HUMAN	C	2483;2170	ENSP00000339299:G2483C	ENSP00000339299:G2483C	G	+	1	0	TRIO	14541184	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.958000	0.63660	2.310000	0.77875	0.556000	0.70494	GGC		0.741	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	16	1	0	0.115264	1	0.120372	3	16				
ZAN	7455	broad.mit.edu	37	7	100358065	100358065	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:100358065C>T	ENST00000348028.3	+	0	3913				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGCGTCTTCCTGGGTGCAAG	0.582																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							113.0	122.0	119.0					7																	100358065		2042	4190	6232			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100358065C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100358065C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3896	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		11	57	0	0	0	1	0	11	57				
SYNE1	23345	broad.mit.edu	37	6	152755007	152755007	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152755007T>C	ENST00000367255.5	-	34	4985	c.4384A>G	c.(4384-4386)Ata>Gta	p.I1462V	SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.I1462V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I1532V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I1469V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1469V|SYNE1_ENST00000367253.4_Missense_Mutation_p.I1462V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1462					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCAGTTATCCAGACGGAC	0.358										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4384-4386)Ata>Gta		spectrin repeat containing, nuclear envelope 1							132.0	125.0	128.0					6																	152755007		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152755007T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4384A>G	6.37:g.152755007T>C	ENSP00000356224:p.Ile1462Val	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.I1532V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I1462V|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000367253.4_Missense_Mutation_p.I1462V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I1469V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I1469V	p.I1462V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	34	4985	-		Ovarian(120;0.0955)	1462					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4384A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688900	0.68271	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53640	1.06;1.06;1.06;1.06;0.61;1.06	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000004	T	0.49966	0.1588	L	0.49640	1.575	0.80722	D	1	B;D;D;D;D	0.67145	0.402;0.987;0.996;0.987;0.984	B;P;D;P;P	0.77557	0.219;0.718;0.99;0.718;0.805	T	0.44651	-0.9314	10	0.13108	T	0.6	.	16.1894	0.81975	0.0:0.0:0.0:1.0	.	1445;1462;1462;1462;1469	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1462;1469;1462;1469;1532;1462	ENSP00000356224:I1462V;ENSP00000396024:I1469V;ENSP00000265368:I1462V;ENSP00000390975:I1469V;ENSP00000341887:I1532V;ENSP00000356222:I1462V	ENSP00000265368:I1462V	I	-	1	0	SYNE1	152796700	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.010000	0.76353	2.222000	0.72286	0.477000	0.44152	ATA		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	25	0	0	0	1	0	7	25				
TRIM9	114088	broad.mit.edu	37	14	51446241	51446241	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:51446241G>T	ENST00000298355.3	-	9	3055	c.1934C>A	c.(1933-1935)gCc>gAc	p.A645D	TRIM9_ENST00000338969.5_Missense_Mutation_p.A726D	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	645	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCCAATTGTGGCCCCTTTTGT	0.443																																						ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1933-1935)gCc>gAc		tripartite motif containing 9							184.0	204.0	197.0					14																	51446241		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446241G>T	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1934C>A	14.37:g.51446241G>T	ENSP00000298355:p.Ala645Asp					TRIM9_ENST00000338969.5_Missense_Mutation_p.A726D	p.A645D	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			9	3055	-	all_epithelial(31;0.00418)|Breast(41;0.148)		645			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.1934C>A	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716755	0.89205	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	T;T	0.66638	-0.22;0.07	5.89	5.89	0.94794	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.101779	0.64402	D	0.000003	T	0.51517	0.1679	N	0.02213	-0.635	0.80722	D	1	P;P	0.44521	0.837;0.464	P;B	0.47941	0.562;0.41	T	0.56866	-0.7908	10	0.22706	T	0.39	.	19.2409	0.93883	0.0:0.0:1.0:0.0	.	726;645	Q9C026-4;Q9C026	.;TRIM9_HUMAN	D	645;726	ENSP00000298355:A645D;ENSP00000342970:A726D	ENSP00000298355:A645D	A	-	2	0	TRIM9	50515991	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.869000	0.99810	2.788000	0.95919	0.557000	0.71058	GCC		0.443	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		13	81	1	0	2.27111e-07	1	3.45555e-07	13	81				
OTUD6A	139562	broad.mit.edu	37	X	69282814	69282814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:69282814C>T	ENST00000338352.2	+	1	474	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	147	Cys-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AAAGCGATCCCGGCCGACGGC	0.642													C|||	1	0.000264901	0.0	0.0014	3775	,	,		12124	0.0		0.0	False		,,,				2504	0.0					ENST00000338352.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(439-441)cCg>cTg		OTU domain containing 6A							40.0	26.0	30.0					X																	69282814		2201	4298	6499	SO:0001583	missense	139562							g.chrX:69282814C>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.440C>T	X.37:g.69282814C>T	ENSP00000339389:p.Pro147Leu						p.P147L	NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN			1	474	+			147			OTU.		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.440C>T	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349248	0.61183	.	.	ENSG00000189401	ENST00000338352	T	0.34472	1.36	4.2	4.2	0.49525	Ovarian tumour, otubain (2);	0.060369	0.64402	D	0.000002	T	0.55497	0.1924	M	0.76433	2.335	0.40787	D	0.983221	D	0.60575	0.988	P	0.62184	0.899	T	0.60182	-0.7313	10	0.51188	T	0.08	.	13.4864	0.61369	0.0:1.0:0.0:0.0	.	147	Q7L8S5	OTU6A_HUMAN	L	147	ENSP00000339389:P147L	ENSP00000339389:P147L	P	+	2	0	OTUD6A	69199539	0.947000	0.32204	0.059000	0.19551	0.002000	0.02628	4.313000	0.59160	2.348000	0.79779	0.556000	0.70494	CCG		0.642	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		5	7	0	0	0	1	0	5	7				
ACTN2	88	broad.mit.edu	37	1	236924444	236924444	+	Missense_Mutation	SNP	G	G	C	rs200854335		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:236924444G>C	ENST00000366578.4	+	20	2663	c.2497G>C	c.(2497-2499)Gcc>Ccc	p.A833P	ACTN2_ENST00000542672.1_Missense_Mutation_p.A833P|ACTN2_ENST00000546208.1_Missense_Mutation_p.A327P	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	833					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.A833S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCAGGTCATCGCCTCCTTCCG	0.517																																						ENST00000366578.4																			1	Substitution - Missense(1)	p.A833S(1)	lung(1)	endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(2497-2499)Gcc>Ccc		actinin, alpha 2							91.0	86.0	88.0					1																	236924444		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236924444G>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2497G>C	1.37:g.236924444G>C	ENSP00000355537:p.Ala833Pro					ACTN2_ENST00000546208.1_Missense_Mutation_p.A327P|ACTN2_ENST00000542672.1_Missense_Mutation_p.A833P	p.A833P	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		20	2663	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	833					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2497G>C	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403828	0.96051	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.47177	0.85;0.85;0.85	5.88	5.88	0.94601	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;0.961;1.0;0.989	D;P;D;P	0.97110	1.0;0.861;1.0;0.852	T	0.71932	-0.4443	10	0.48119	T	0.1	.	20.2441	0.98394	0.0:0.0:1.0:0.0	.	618;833;603;833	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	P	833;833;327;602	ENSP00000443495:A833P;ENSP00000355537:A833P;ENSP00000438384:A327P	ENSP00000355537:A833P	A	+	1	0	ACTN2	234991067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.774000	0.95407	0.655000	0.94253	GCC		0.517	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		8	30	0	0	0	1	0	8	30				
SCN5A	6331	broad.mit.edu	37	3	38645243	38645243	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:38645243T>A	ENST00000333535.4	-	12	1999	c.1850A>T	c.(1849-1851)cAc>cTc	p.H617L	SCN5A_ENST00000413689.1_Missense_Mutation_p.H617L|SCN5A_ENST00000455624.2_Missense_Mutation_p.H617L|SCN5A_ENST00000423572.2_Missense_Mutation_p.H617L|SCN5A_ENST00000451551.2_Missense_Mutation_p.H617L|SCN5A_ENST00000450102.2_Missense_Mutation_p.H617L|SCN5A_ENST00000443581.1_Missense_Mutation_p.H617L|SCN5A_ENST00000414099.2_Missense_Mutation_p.H617L|SCN5A_ENST00000425664.1_Missense_Mutation_p.H617L|SCN5A_ENST00000449557.2_Missense_Mutation_p.H617L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	617					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGGAGGAGGTGGCTTCCTGG	0.627																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1849-1851)cAc>cTc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						35.0	39.0	38.0					3																	38645243		2063	4207	6270	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645243T>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1850A>T	3.37:g.38645243T>A	ENSP00000328968:p.His617Leu					SCN5A_ENST00000451551.2_Missense_Mutation_p.H617L|SCN5A_ENST00000333535.4_Missense_Mutation_p.H617L|SCN5A_ENST00000449557.2_Missense_Mutation_p.H617L|SCN5A_ENST00000443581.1_Missense_Mutation_p.H617L|SCN5A_ENST00000425664.1_Missense_Mutation_p.H617L|SCN5A_ENST00000423572.2_Missense_Mutation_p.H617L|SCN5A_ENST00000414099.2_Missense_Mutation_p.H617L|SCN5A_ENST00000450102.2_Missense_Mutation_p.H617L|SCN5A_ENST00000455624.2_Missense_Mutation_p.H617L	p.H617L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	2043	-	Medulloblastoma(35;0.163)		617					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1850A>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	1.583	-0.531064	0.04112	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	4.18	-7.79	0.01218	Domain of unknown function DUF3451 (1);	1.197620	0.05788	N	0.609806	T	0.74261	0.3693	N	0.04669	-0.19	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.001	B;B;B;B;B;B;B	0.14023	0.0;0.0;0.0;0.0;0.01;0.0;0.006	T	0.65713	-0.6101	10	0.13470	T	0.59	.	8.9835	0.35979	0.1504:0.1791:0.0:0.6705	.	617;617;617;617;617;617;617	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	L	617	ENSP00000398962:H617L;ENSP00000398266:H617L;ENSP00000410257:H617L;ENSP00000388797:H617L;ENSP00000397915:H617L;ENSP00000416634:H617L;ENSP00000328968:H617L;ENSP00000399524:H617L;ENSP00000403355:H617L;ENSP00000413996:H617L	ENSP00000328968:H617L	H	-	2	0	SCN5A	38620247	0.527000	0.26306	0.333000	0.25482	0.614000	0.37383	-0.329000	0.07935	-2.245000	0.00705	-0.379000	0.06801	CAC		0.627	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		8	31	0	0	0	1	0	8	31				
RSAD2	91543	broad.mit.edu	37	2	7035912	7035912	+	Missense_Mutation	SNP	C	C	G	rs182219558	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:7035912C>G	ENST00000382040.3	+	6	1061	c.925C>G	c.(925-927)Cgc>Ggc	p.R309G	RSAD2_ENST00000541728.1_Missense_Mutation_p.R202G	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.R309S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTTCTAGATGCGCTTTCTGAA	0.368																																						ENST00000382040.3																			1	Substitution - Missense(1)	p.R309S(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(925-927)Cgc>Ggc		radical S-adenosyl methionine domain containing 2							69.0	69.0	69.0					2																	7035912		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7035912C>G	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.925C>G	2.37:g.7035912C>G	ENSP00000371471:p.Arg309Gly					RSAD2_ENST00000541728.1_Missense_Mutation_p.R202G	p.R309G	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	6	1061	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		309						Missense_Mutation	SNP	ENST00000382040.3	37	c.925C>G	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723726	0.89298	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.91945	-2.94;-2.94	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.96880	0.9645	10	0.72032	D	0.01	-34.6299	19.912	0.97027	0.0:1.0:0.0:0.0	.	309	Q8WXG1	RSAD2_HUMAN	G	309;202	ENSP00000371471:R309G;ENSP00000440859:R202G	ENSP00000371471:R309G	R	+	1	0	RSAD2	6953363	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.356000	0.79445	2.791000	0.96007	0.655000	0.94253	CGC		0.368	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		3	24	0	0	0	1	0	3	24				
LBH	81606	broad.mit.edu	37	2	30480387	30480387	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:30480387T>A	ENST00000395323.3	+	3	426	c.218T>A	c.(217-219)gTg>gAg	p.V73E	LBH_ENST00000407930.2_Missense_Mutation_p.V56E|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.V79E|LBH_ENST00000404397.1_Intron|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	73					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GAAGGGGAGGTGGAGAGCGGG	0.547																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(217-219)gTg>gAg		limb bud and heart development							55.0	61.0	59.0					2																	30480387		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480387T>A	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.218T>A	2.37:g.30480387T>A	ENSP00000378733:p.Val73Glu					LBH_ENST00000401506.1_Missense_Mutation_p.V79E|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000407930.2_Missense_Mutation_p.V56E	p.V73E	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			3	426	+	Acute lymphoblastic leukemia(172;0.155)		73					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.218T>A	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695059	0.88830	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77274	0.4106	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80339	-0.1424	9	0.87932	D	0	-38.357	13.5584	0.61773	0.0:0.0:0.0:1.0	.	73	Q53QV2	LBH_HUMAN	E	73;79;56	.	ENSP00000378733:V73E	V	+	2	0	LBH	30333891	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.715000	0.84713	1.803000	0.52742	0.459000	0.35465	GTG		0.547	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		8	38	0	0	0	1	0	8	38				
KRT6A	3853	broad.mit.edu	37	12	52886474	52886474	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:52886474T>C	ENST00000330722.6	-	1	567	c.499A>G	c.(499-501)Atc>Gtc	p.I167V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	167	Coil 1A.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGTCTTGATCTGTTCACGC	0.582																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(499-501)Atc>Gtc		keratin 6A							179.0	166.0	170.0					12																	52886474		2203	4299	6502	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886474T>C	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.499A>G	12.37:g.52886474T>C	ENSP00000369317:p.Ile167Val						p.I167V	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	567	-			167			Coil 1A.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.499A>G	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642560	0.87859	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.89415	-2.51	5.31	5.31	0.75309	Filament (1);	0.000000	0.64402	D	0.000009	D	0.96451	0.8842	H	0.97611	4.04	0.49798	D	0.999829	D	0.69078	0.997	D	0.70935	0.971	D	0.97962	1.0338	10	0.87932	D	0	.	15.5792	0.76418	0.0:0.0:0.0:1.0	.	167	P02538	K2C6A_HUMAN	V	167;123	ENSP00000369317:I167V	ENSP00000369317:I167V	I	-	1	0	KRT6A	51172741	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.918000	0.87506	2.142000	0.66516	0.528000	0.53228	ATC		0.582	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		10	76	0	0	0	1	0	10	76				
CASS4	57091	broad.mit.edu	37	20	55012398	55012398	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:55012398C>A	ENST00000360314.3	+	3	440	c.215C>A	c.(214-216)aCg>aAg	p.T72K	CASS4_ENST00000371336.3_Missense_Mutation_p.T72K|CASS4_ENST00000434344.1_Missense_Mutation_p.T72K	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	72	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAAATCCTCACGGAGGTCGCT	0.622																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(214-216)aCg>aAg		Cas scaffolding protein family member 4							36.0	38.0	37.0					20																	55012398		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55012398C>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.215C>A	20.37:g.55012398C>A	ENSP00000353462:p.Thr72Lys					CASS4_ENST00000434344.1_Missense_Mutation_p.T72K|CASS4_ENST00000360314.3_Missense_Mutation_p.T72K	p.T72K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			2	416	+			72			SH3.		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.215C>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834801	0.50951	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.42131	0.98;0.98;0.98	5.71	1.48	0.22813	Src homology-3 domain (3);	1.102430	0.06780	N	0.785153	T	0.26048	0.0635	N	0.21617	0.685	0.09310	N	1	B;B;P;P	0.43352	0.025;0.429;0.804;0.514	B;B;B;B	0.38712	0.008;0.103;0.28;0.145	T	0.06625	-1.0816	10	0.08381	T	0.77	0.7154	8.7504	0.34611	0.0:0.6311:0.2389:0.13	.	72;72;72;72	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	K	72	ENSP00000353462:T72K;ENSP00000360387:T72K;ENSP00000410027:T72K	ENSP00000353462:T72K	T	+	2	0	CASS4	54445805	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	0.921000	0.28718	0.048000	0.15891	0.655000	0.94253	ACG		0.622	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		12	40	1	0	6.42651e-13	1	1.0797e-12	12	40				
ZNF716	441234	broad.mit.edu	37	7	57522217	57522217	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:57522217C>A	ENST00000420713.1	+	2	203	c.91C>A	c.(91-93)Caa>Aaa	p.Q31K		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGCGGAATGGCAATGCCTGGA	0.368																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(91-93)Caa>Aaa		zinc finger protein 716							86.0	76.0	79.0					7																	57522217		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522217C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.91C>A	7.37:g.57522217C>A	ENSP00000394248:p.Gln31Lys						p.Q31K	NM_001159279.1	NP_001152751.1					2	203	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.91C>A	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	6.765	0.509985	0.12883	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.01629	4.72	0.85	0.85	0.18980	Krueppel-associated box (4);	.	.	.	.	T	0.03959	0.0111	L	0.41415	1.275	0.09310	N	1	D	0.59357	0.985	D	0.73708	0.981	T	0.47045	-0.9147	9	0.22706	T	0.39	.	3.9638	0.09423	0.4107:0.5892:0.0:0.0	.	19	A6NP11	ZN716_HUMAN	K	31;19	ENSP00000394248:Q31K	ENSP00000387687:Q19K	Q	+	1	0	ZNF716	57526159	0.138000	0.22547	0.036000	0.18154	0.037000	0.13140	-0.021000	0.12504	0.293000	0.22520	0.298000	0.19748	CAA		0.368	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		6	33	1	0	0.00116845	1	0.00137844	6	33				
KRTAP13-2	337959	broad.mit.edu	37	21	31744089	31744089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:31744089C>T	ENST00000399889.2	-	1	468	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	148						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GTAGGTTGGGCGGCAGAATCC	0.532																																						ENST00000399889.2																			0				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(442-444)cGc>cAc		keratin associated protein 13-2							69.0	63.0	66.0					21																	31744089		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744089C>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.443G>A	21.37:g.31744089C>T	ENSP00000382777:p.Arg148His						p.R148H	NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN			1	468	-			148						Missense_Mutation	SNP	ENST00000399889.2	37	c.443G>A	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	1.204	-0.631614	0.03584	.	.	ENSG00000182816	ENST00000399889	T	0.03772	3.81	5.02	-4.19	0.03835	.	0.713234	0.11961	N	0.512686	T	0.02929	0.0087	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43702	-0.9375	10	0.20046	T	0.44	.	12.1567	0.54081	0.0:0.3185:0.0:0.6815	.	148	Q52LG2	KR132_HUMAN	H	148	ENSP00000382777:R148H	ENSP00000382777:R148H	R	-	2	0	KRTAP13-2	30665960	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	-2.674000	0.00842	-1.083000	0.03097	-0.123000	0.14984	CGC		0.532	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			6	42	0	0	0	1	0	6	42				
MUC5B	727897	broad.mit.edu	37	11	1265896	1265896	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:1265896C>A	ENST00000529681.1	+	31	7844	c.7786C>A	c.(7786-7788)Ccc>Acc	p.P2596T	MUC5B_ENST00000447027.1_Missense_Mutation_p.P2599T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2596	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2596S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTGGCCACCCCCTCCTCCAC	0.652																																						ENST00000447027.1																			1	Substitution - Missense(1)	p.P2596S(1)	lung(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7795-7797)Ccc>Acc		mucin 5B, oligomeric mucus/gel-forming							103.0	135.0	124.0					11																	1265896		2042	4184	6226	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265896C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7786C>A	11.37:g.1265896C>A	ENSP00000436812:p.Pro2596Thr					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2596T	p.P2599T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7853	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2596	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7795C>A	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.219|3.219	-0.159913|-0.159913	0.06502|0.06502	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000537836|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.22134	.|1.97;2.15	2.16|2.16	-0.565|-0.565	0.11771|0.11771	.|.	.|.	.|.	.|.	.|.	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.41492|0.41492	1.28|1.28	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28324	.|0.207;0.207	.|B;B	.|0.16722	.|0.016;0.016	T|T	0.20940|0.20940	-1.0260|-1.0260	6|9	0.66056|0.87932	D|D	0.02|0	.|.	5.9741|5.9741	0.19369|0.19369	0.0:0.6296:0.0:0.3704|0.0:0.6296:0.0:0.3704	.|.	.|3234;2599	.|A7Y9J9;E9PBJ0	.|.;.	H|T	138|2596;2599;2568;2611	.|ENSP00000436812:P2596T;ENSP00000415793:P2599T	ENSP00000440615:P138H|ENSP00000343037:P2568T	P|P	+|+	2|1	0|0	MUC5B|MUC5B	1222472|1222472	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.061000|0.061000	0.15899|0.15899	-6.766000|-6.766000	0.00054|0.00054	-0.122000|-0.122000	0.11766|0.11766	0.205000|0.205000	0.17691|0.17691	CCC|CCC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		16	71	1	0	0.000308642	1	0.000382267	16	71				
TPTE	7179	broad.mit.edu	37	21	10906930	10906930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:10906930C>A	ENST00000361285.4	-	24	1960	c.1631G>T	c.(1630-1632)aGt>aTt	p.S544I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S506I|TPTE_ENST00000298232.7_Missense_Mutation_p.S526I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	544					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAACATCACTGGAAGTCAT	0.388																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1576-1578)aGt>aTt		transmembrane phosphatase with tensin homology							146.0	128.0	134.0					21																	10906930		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906930C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1631G>T	21.37:g.10906930C>A	ENSP00000355208:p.Ser544Ile					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S506I|TPTE_ENST00000361285.4_Missense_Mutation_p.S544I	p.S526I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	1944	-			544			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1577G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.18	1.279474	0.23307	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.94758	-3.36;-3.51;-3.47	1.6	0.648	0.17801	.	.	.	.	.	T	0.81894	0.4919	N	0.08118	0	0.09310	N	1	P;P;B	0.34977	0.478;0.478;0.183	B;B;B	0.23275	0.045;0.045;0.039	T	0.72272	-0.4342	9	0.15066	T	0.55	.	6.5931	0.22658	0.0:0.8037:0.0:0.1963	.	506;526;544	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	526;544;506	ENSP00000298232:S526I;ENSP00000355208:S544I;ENSP00000344441:S506I	ENSP00000298232:S526I	S	-	2	0	TPTE	9928801	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.039000	0.03550	-0.142000	0.11354	-1.461000	0.01025	AGT		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	36	1	0	1	1	1	4	36				
CNTNAP5	129684	broad.mit.edu	37	2	125367480	125367480	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:125367480T>A	ENST00000431078.1	+	12	2220	c.1856T>A	c.(1855-1857)gTg>gAg	p.V619E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	619	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)		CCTCTCCAGGTGTACTGCAAT	0.527																																						ENST00000431078.1																			0				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						c.(1855-1857)gTg>gAg		contactin associated protein-like 5							65.0	64.0	65.0					2																	125367480		1877	4112	5989	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367480T>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.1856T>A	2.37:g.125367480T>A	ENSP00000399013:p.Val619Glu						p.V619E	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2220	+			619			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1856T>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084396	0.76642	.	.	ENSG00000155052	ENST00000431078	T	0.31247	1.5	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.149852	0.29707	N	0.011408	T	0.59487	0.2197	M	0.93939	3.475	0.80722	D	1	D	0.61697	0.99	P	0.54706	0.759	T	0.71984	-0.4427	10	0.87932	D	0	.	15.0047	0.71501	0.0:0.0:0.0:1.0	.	619	Q8WYK1	CNTP5_HUMAN	E	619	ENSP00000399013:V619E	ENSP00000399013:V619E	V	+	2	0	CNTNAP5	125083950	1.000000	0.71417	0.985000	0.45067	0.528000	0.34623	7.264000	0.78432	2.279000	0.76181	0.533000	0.62120	GTG		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			4	37	0	0	0	1	0	4	37				
SNHG14	104472715	broad.mit.edu	37	15	25449569	25449569	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:25449569G>A	ENST00000424208.1	+	0	2339				SNORD115-19_ENST00000363098.1_RNA|SNORD115-18_ENST00000363293.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATTCTCAAAAGGATTATGCTG	0.498																																						ENST00000424208.1																			0																				189.0	216.0	208.0					15																	25449569		876	1989	2865			104472715							g.chr15:25449569G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25449569G>A						SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2339	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.498	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			12	100	0	0	0	1	0	12	100				
DPYSL4	10570	broad.mit.edu	37	10	134016257	134016257	+	Silent	SNP	G	G	T	rs141190261		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:134016257G>T	ENST00000338492.4	+	12	1553	c.1389G>T	c.(1387-1389)ccG>ccT	p.P463P	DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	463					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTGTCACCCCGGGGGCGGGCC	0.617																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1387-1389)ccG>ccT		dihydropyrimidinase-like 4							63.0	69.0	67.0					10																	134016257		2203	4300	6503	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016257G>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1389G>T	10.37:g.134016257G>T						DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	p.P463P	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1553	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	463					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.1389G>T	CCDS7665.1																																																																																				0.617	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			4	42	1	0	0.00909568	1	0.00998677	4	42				
SCAP	22937	broad.mit.edu	37	3	47460903	47460903	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:47460903G>T	ENST00000265565.5	-	13	2267	c.1855C>A	c.(1855-1857)Cct>Act	p.P619T	SCAP_ENST00000441517.2_Missense_Mutation_p.P364T|SCAP_ENST00000545718.1_Missense_Mutation_p.P227T|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	619					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TCATCCTCAGGCCCCCAGGTT	0.582																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1855-1857)Cct>Act		SREBF chaperone							77.0	73.0	74.0					3																	47460903		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47460903G>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1855C>A	3.37:g.47460903G>T	ENSP00000265565:p.Pro619Thr					SCAP_ENST00000545718.1_Missense_Mutation_p.P227T|SCAP_ENST00000441517.2_Missense_Mutation_p.P364T	p.P619T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	13	2267	-			619					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.1855C>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266762	0.40095	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.80304	-1.36;-1.31;0.84	4.48	3.6	0.41247	.	0.252428	0.40385	N	0.001113	T	0.71056	0.3295	L	0.36672	1.1	0.34655	D	0.722108	B;B	0.30236	0.274;0.262	B;B	0.30943	0.122;0.115	T	0.76107	-0.3080	10	0.59425	D	0.04	-6.4888	9.6964	0.40161	0.0:0.1994:0.6611:0.1395	.	364;619	F8W921;Q12770	.;SCAP_HUMAN	T	246;619;364;227	ENSP00000265565:P619T;ENSP00000416847:P364T;ENSP00000438956:P227T	ENSP00000265565:P619T	P	-	1	0	SCAP	47435907	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.238000	0.43070	1.088000	0.41272	0.462000	0.41574	CCT		0.582	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		9	40	1	0	3.09899e-07	1	4.6688e-07	9	40				
RELL2	285613	broad.mit.edu	37	5	141017811	141017811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:141017811G>A	ENST00000297164.3	+	1	1219	c.19G>A	c.(19-21)Gac>Aac	p.D7N	HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Intron|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000444782.1_Missense_Mutation_p.D7N	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	7					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACAGCCTGACCTGGAACC	0.622																																						ENST00000297164.3																			0				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(19-21)Gac>Aac		RELT-like 2							152.0	146.0	148.0					5																	141017811		2203	4300	6503	SO:0001583	missense	285613					integral to membrane|plasma membrane		g.chr5:141017811G>A	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.19G>A	5.37:g.141017811G>A	ENSP00000297164:p.Asp7Asn					RELL2_ENST00000444782.1_Missense_Mutation_p.D7N|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000521367.1_Intron	p.D7N	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1219	+			7					D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	c.19G>A	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951458	0.53186	.	.	ENSG00000164620	ENST00000444782;ENST00000297164	T;T	0.14893	2.47;2.47	5.87	5.87	0.94306	.	0.673297	0.14517	N	0.314717	T	0.10981	0.0268	N	0.14661	0.345	0.41209	D	0.986427	B	0.27498	0.18	B	0.24848	0.056	T	0.27839	-1.0062	10	0.23302	T	0.38	-3.407	12.3314	0.55041	0.078:0.0:0.922:0.0	.	7	Q8NC24	RELL2_HUMAN	N	7	ENSP00000409443:D7N;ENSP00000297164:D7N	ENSP00000297164:D7N	D	+	1	0	RELL2	140997995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.612000	0.54142	2.778000	0.95560	0.650000	0.86243	GAC		0.622	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		9	66	0	0	0	1	0	9	66				
LPHN3	23284	broad.mit.edu	37	4	62453100	62453100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:62453100G>T	ENST00000514591.1	+	4	540	c.211G>T	c.(211-213)Gct>Tct	p.A71S	LPHN3_ENST00000504896.1_Missense_Mutation_p.A71S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A71S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A71S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A71S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A139S|LPHN3_ENST00000512091.2_Missense_Mutation_p.A71S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A139S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A139S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A139S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A71S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A71S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A139S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	71	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				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						CTCTGACCCTGCTCAGATGGA	0.398																																						ENST00000512091.1																			0				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						c.(211-213)Gct>Tct		latrophilin 3							81.0	82.0	82.0					4																	62453100		1940	4144	6084	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62453100G>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.211G>T	4.37:g.62453100G>T	ENSP00000422533:p.Ala71Ser					LPHN3_ENST00000507164.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A71S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A139S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A71S|LPHN3_ENST00000511324.1_Missense_Mutation_p.A139S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A71S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A139S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A71S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A139S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A71S|LPHN3_ENST00000514591.1_Missense_Mutation_p.A71S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A139S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A139S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A71S	p.A71S			Q9HAR2	LPHN3_HUMAN			4	958	+			71			SUEL-type lectin.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.211G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387747	0.61956	.	.	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	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	N	0.03177	-0.4	0.39550	D	0.968964	P;D;P	0.63046	0.872;0.992;0.718	P;D;B	0.74023	0.556;0.982;0.217	T	0.43605	-0.9381	10	0.25106	T	0.35	.	18.5424	0.91033	0.0:0.0:1.0:0.0	.	71;139;71	E9PE04;E7EN28;Q9HAR2-2	.;.;.	S	71;71;139;139;71;71;71;71;71;139;139;139;71;71;71;139;139;71	ENSP00000423388:A71S;ENSP00000422533:A71S;ENSP00000423787:A139S;ENSP00000425033:A139S;ENSP00000424120:A71S;ENSP00000439831:A71S;ENSP00000421476:A139S;ENSP00000424030:A139S;ENSP00000421372:A139S;ENSP00000425201:A71S;ENSP00000423434:A71S;ENSP00000421627:A71S;ENSP00000420931:A139S;ENSP00000425884:A139S;ENSP00000424258:A71S	ENSP00000280009:A71S	A	+	1	0	LPHN3	62135695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.346000	0.59367	2.694000	0.91930	0.585000	0.79938	GCT		0.398	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	13	1	0	0.00909568	1	0.00998677	4	13				
HIST1H3D	8351	broad.mit.edu	37	6	26197426	26197426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26197426C>T	ENST00000356476.2	-	1	52	c.53G>A	c.(52-54)cGc>cAc	p.R18H	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.R18H			P68431	H31_HUMAN	histone cluster 1, H3d	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CAGCTGCTTGCGTGGCGCTTT	0.612																																					GBM(108;3816 4467)	ENST00000377831.5																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14						c.(52-54)cGc>cAc		histone cluster 1, H3d							48.0	52.0	51.0					6																	26197426		2203	4300	6503	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197426C>T	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.53G>A	6.37:g.26197426C>T	ENSP00000366999:p.Arg18His					HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R18H	p.R18H	NM_003530.3	NP_003521.2	P68431	H31_HUMAN			2	506	-		all_hematologic(11;0.196)	18					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.53G>A	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	11.03	1.518618	0.27211	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.49720	0.77;0.77	4.14	4.14	0.48551	.	.	.	.	.	T	0.54663	0.1872	.	.	.	0.36461	D	0.866674	.	.	.	.	.	.	T	0.63804	-0.6554	6	0.87932	D	0	.	15.7622	0.78091	0.0:1.0:0.0:0.0	.	.	.	.	H	18	ENSP00000366999:R18H;ENSP00000367062:R18H	ENSP00000366999:R18H	R	-	2	0	HIST1H3D	26305405	0.989000	0.36119	0.898000	0.35279	0.024000	0.10985	3.726000	0.54977	2.013000	0.59113	0.655000	0.94253	CGC		0.612	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		6	58	0	0	0	1	0	6	58				
RYR3	6263	broad.mit.edu	37	15	33878308	33878308	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:33878308G>T	ENST00000389232.4	+	16	1849	c.1779G>T	c.(1777-1779)cgG>cgT	p.R593R	RYR3_ENST00000415757.3_Silent_p.R593R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	593	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)		AGCACGGGCGGAATCACAAGG	0.463																																						ENST00000389232.4																			0				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						c.(1777-1779)cgG>cgT		ryanodine receptor 3							101.0	95.0	97.0					15																	33878308		1992	4159	6151	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33878308G>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.1779G>T	15.37:g.33878308G>T						RYR3_ENST00000415757.3_Silent_p.R593R	p.R593R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	16	1849	+		all_lung(180;7.18e-09)	593			B30.2/SPRY 1.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1779G>T	CCDS45210.1																																																																																				0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	22	1	0	6.4e-05	1	8.33271e-05	3	22				
C15orf54	400360	broad.mit.edu	37	15	39544644	39544644	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:39544644T>C	ENST00000318578.3	+	2	676	c.308T>C	c.(307-309)aTa>aCa	p.I103T	RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.I103T|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	103										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGAGAAGTCATAAACAAAGAA	0.413																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(307-309)aTa>aCa		chromosome 15 open reading frame 54							109.0	105.0	106.0					15																	39544644		2200	4297	6497	SO:0001583	missense	400360							g.chr15:39544644T>C		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.308T>C	15.37:g.39544644T>C	ENSP00000323686:p.Ile103Thr					RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.I103T	p.I103T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	676	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	103					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.308T>C	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655263	0.29425	.	.	ENSG00000175746	ENST00000318578	T	0.38722	1.12	4.7	3.58	0.41010	.	.	.	.	.	T	0.23688	0.0573	N	0.08118	0	0.21652	N	0.999602	B	0.22346	0.068	B	0.25140	0.058	T	0.20638	-1.0269	9	0.87932	D	0	.	6.7245	0.23348	0.0:0.1053:0.0:0.8947	.	103	Q8N8G6	CO054_HUMAN	T	103	ENSP00000323686:I103T	ENSP00000323686:I103T	I	+	2	0	C15orf54	37331936	1.000000	0.71417	0.936000	0.37596	0.901000	0.52897	3.432000	0.52824	0.835000	0.34877	0.533000	0.62120	ATA		0.413	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		16	94	0	0	0	1	0	16	94				
MICU2	221154	broad.mit.edu	37	13	22088519	22088519	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:22088519T>G	ENST00000382374.4	-	7	701	c.636A>C	c.(634-636)acA>acC	p.T212T		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	212					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TAGTTTTCACTGTCATCAAGT	0.313																																						ENST00000382374.4																			0											c.(634-636)acA>acC		mitochondrial calcium uptake 2							185.0	178.0	180.0					13																	22088519		2202	4300	6502	SO:0001819	synonymous_variant	221154							g.chr13:22088519T>G	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.636A>C	13.37:g.22088519T>G							p.T212T	NM_152726.2	NP_689939.1					7	701	-								Q8N0T6|Q8NAX8	Silent	SNP	ENST00000382374.4	37	c.636A>C	CCDS9297.1																																																																																				0.313	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726		4	30	0	0	0	1	0	4	30				
PKLR	5313	broad.mit.edu	37	1	155271182	155271182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:155271182G>A	ENST00000342741.4	-	1	43	c.5C>T	c.(4-6)tCg>tTg	p.S2L	PKLR_ENST00000392414.3_5'Flank	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	2					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCCTGGATCGACATGCTTTC	0.512																																						ENST00000342741.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(4-6)tCg>tTg		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						109.0	99.0	102.0					1																	155271182		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155271182G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.5C>T	1.37:g.155271182G>A	ENSP00000339933:p.Ser2Leu						p.S2L	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		1	43	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		2					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.5C>T	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330659	0.81690	.	.	ENSG00000143627	ENST00000423816;ENST00000342741	D	0.99724	-6.54	4.74	3.81	0.43845	.	0.370023	0.19858	N	0.104484	D	0.96024	0.8705	N	0.22421	0.69	0.28425	N	0.91754	P	0.43352	0.804	B	0.22880	0.042	D	0.94926	0.8078	10	0.87932	D	0	-6.8919	10.9281	0.47201	0.0:0.19:0.81:0.0	.	2	P30613	KPYR_HUMAN	L	2	ENSP00000339933:S2L	ENSP00000339933:S2L	S	-	2	0	PKLR	153537806	0.988000	0.35896	0.856000	0.33681	0.019000	0.09904	2.435000	0.44811	1.312000	0.45043	0.462000	0.41574	TCG		0.512	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		6	30	0	0	0	1	0	6	30				
BTNL9	153579	broad.mit.edu	37	5	180477327	180477327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:180477327C>T	ENST00000327705.9	+	4	925	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	BTNL9_ENST00000376841.2_Missense_Mutation_p.L232F|BTNL9_ENST00000515271.1_Missense_Mutation_p.L163F|BTNL9_ENST00000376842.3_Missense_Mutation_p.L232F	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	232						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCCAGAATCTCCTCTTGAG	0.527																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(694-696)Ctc>Ttc		butyrophilin-like 9							110.0	111.0	110.0					5																	180477327		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180477327C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.694C>T	5.37:g.180477327C>T	ENSP00000330200:p.Leu232Phe					BTNL9_ENST00000376842.3_Missense_Mutation_p.L232F|BTNL9_ENST00000376841.2_Missense_Mutation_p.L232F|BTNL9_ENST00000515271.1_Missense_Mutation_p.L163F	p.L232F	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	925	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	232					A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.694C>T	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112619	0.37242	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.68	-1.1	0.09872	.	0.887861	0.09350	N	0.814251	T	0.11024	0.0269	L	0.58810	1.83	0.09310	N	1	D;P	0.54601	0.967;0.847	P;B	0.49085	0.6;0.396	T	0.22730	-1.0208	10	0.41790	T	0.15	.	3.1569	0.06508	0.2661:0.2683:0.3743:0.0913	.	163;232	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	F	232;232;232;232;163	ENSP00000366037:L232F;ENSP00000330200:L232F;ENSP00000366038:L232F;ENSP00000427345:L163F	ENSP00000330200:L232F	L	+	1	0	BTNL9	180409933	0.000000	0.05858	0.189000	0.23252	0.515000	0.34225	-0.526000	0.06207	-0.015000	0.14150	-0.181000	0.13052	CTC		0.527	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		7	48	0	0	0	1	0	7	48				
IGDCC4	57722	broad.mit.edu	37	15	65703521	65703521	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:65703521G>A	ENST00000352385.2	-	2	467	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	86	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGGCAGCAGGTGTAAGTGGT	0.612																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(256-258)caC>caT		immunoglobulin superfamily, DCC subclass, member 4							87.0	67.0	74.0					15																	65703521		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65703521G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.258C>T	15.37:g.65703521G>A							p.H86H	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			2	467	-			86			Ig-like C2-type 1.		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.258C>T	CCDS10206.1																																																																																				0.612	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		4	38	0	0	0	1	0	4	38				
PRRC2A	7916	broad.mit.edu	37	6	31601198	31601198	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:31601198C>T	ENST00000376033.2	+	17	4596	c.4362C>T	c.(4360-4362)ccC>ccT	p.P1454P	PRRC2A_ENST00000376007.4_Silent_p.P1454P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1454	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTGCCTCCCCCACCTCCCA	0.572																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4360-4362)ccC>ccT		proline-rich coiled-coil 2A							57.0	61.0	59.0					6																	31601198		1508	2708	4216	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31601198C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4362C>T	6.37:g.31601198C>T						PRRC2A_ENST00000376007.4_Silent_p.P1454P	p.P1454P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			17	4596	+			1454			4 X 57 AA type A repeats.|Poly-Pro.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.4362C>T	CCDS4708.1																																																																																				0.572	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		5	39	0	0	0	1	0	5	39				
PCDH17	27253	broad.mit.edu	37	13	58208088	58208088	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:58208088C>A	ENST00000377918.3	+	1	1434	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	470	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACAACCCGCCTCGGTTCAC	0.612																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1408-1410)Cct>Act		protocadherin 17							50.0	44.0	46.0					13																	58208088		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208088C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1408C>A	13.37:g.58208088C>A	ENSP00000367151:p.Pro470Thr						p.P470T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1434	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	470			Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1408C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869806	0.72065	.	.	ENSG00000118946	ENST00000377918	D	0.84730	-1.89	5.58	5.58	0.84498	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.044923	0.85682	D	0.000000	D	0.96889	0.8984	H	0.99963	5.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98948	1.0793	9	.	.	.	.	19.5671	0.95398	0.0:1.0:0.0:0.0	.	470;470	O14917-2;O14917	.;PCD17_HUMAN	T	470	ENSP00000367151:P470T	.	P	+	1	0	PCDH17	57106089	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCT		0.612	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	25	1	0	0.00909568	1	0.00998677	4	25				
BIVM	54841	broad.mit.edu	37	13	103473469	103473469	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:103473469A>G	ENST00000257336.1	+	5	1367	c.688A>G	c.(688-690)Atg>Gtg	p.M230V	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.N201S|RNY5P8_ENST00000410369.1_RNA|BIVM_ENST00000448849.2_Start_Codon_SNP_p.M1V|BIVM_ENST00000419638.1_Missense_Mutation_p.M230V	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	230						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATACAGCACAATGGGAGCTGG	0.343																																						ENST00000602836.1																			0											c.(601-603)aAt>aGt									164.0	165.0	164.0					13																	103473469		2203	4300	6503	SO:0001583	missense	100533467				nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103473469A>G	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.688A>G	13.37:g.103473469A>G	ENSP00000257336:p.Met230Val					BIVM_ENST00000419638.1_Missense_Mutation_p.M230V|BIVM_ENST00000257336.1_Missense_Mutation_p.M230V|BIVM_ENST00000448849.2_Start_Codon_SNP_p.M1V	p.N201S	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN			3	602	+			0					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.602A>G	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199487	0.38806	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000419638;ENST00000418659	.	.	.	5.41	5.41	0.78517	.	0.126129	0.56097	D	0.000033	T	0.34135	0.0887	N	0.14661	0.345	0.80722	D	1	B;B;B	0.30406	0.017;0.278;0.053	B;B;B	0.24155	0.015;0.051;0.036	T	0.30909	-0.9962	9	0.72032	D	0.01	.	11.0754	0.48027	0.7299:0.2701:0.0:0.0	.	1;201;230	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	V	230;1;230;201	.	ENSP00000257336:M230V	M	+	1	0	ERCC5;BIVM	102271470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.162000	0.50755	2.053000	0.61076	0.459000	0.35465	ATG		0.343	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			5	33	0	0	0	1	0	5	33				
LZTFL1	54585	broad.mit.edu	37	3	45872444	45872444	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:45872444T>A	ENST00000296135.6	-	7	735	c.561A>T	c.(559-561)aaA>aaT	p.K187N	LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Missense_Mutation_p.K183N|LZTFL1_ENST00000536047.1_Missense_Mutation_p.K170N	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	187	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTTGCAGTGCTTTTTCTAGTT	0.313																																						ENST00000296135.6																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(559-561)aaA>aaT		leucine zipper transcription factor-like 1							150.0	146.0	147.0					3																	45872444		2201	4298	6499	SO:0001583	missense	54585							g.chr3:45872444T>A	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.561A>T	3.37:g.45872444T>A	ENSP00000296135:p.Lys187Asn					LZTFL1_ENST00000539217.1_Missense_Mutation_p.K183N|LZTFL1_ENST00000536047.1_Missense_Mutation_p.K170N|LZTFL1_ENST00000490463.1_5'UTR	p.K187N	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	7	735	-			187					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	c.561A>T	CCDS2731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.99|11.99	1.803842|1.803842	0.31869|0.31869	.|.	.|.	ENSG00000163818|ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000539217|ENST00000440576	T;T;T|.	0.24151|.	1.87;1.87;1.87|.	5.78|5.78	0.569|0.569	0.17340|0.17340	.|.	0.525254|.	0.22169|.	N|.	0.063680|.	T|T	0.21267|0.21267	0.0512|0.0512	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.09377|.	0.004|.	T|T	0.24083|0.24083	-1.0170|-1.0170	10|5	0.33940|.	T|.	0.23|.	-0.1964|-0.1964	3.9687|3.9687	0.09443|0.09443	0.2378:0.2904:0.0:0.4718|0.2378:0.2904:0.0:0.4718	.|.	187|.	Q9NQ48|.	LZTL1_HUMAN|.	N|C	187;170;183|123	ENSP00000296135:K187N;ENSP00000439522:K170N;ENSP00000441784:K183N|.	ENSP00000296135:K187N|.	K|S	-|-	3|1	2|0	LZTFL1|LZTFL1	45847448|45847448	0.770000|0.770000	0.28543|0.28543	0.000000|0.000000	0.03702|0.03702	0.987000|0.987000	0.75469|0.75469	1.082000|1.082000	0.30803|0.30803	0.138000|0.138000	0.18790|0.18790	0.533000|0.533000	0.62120|0.62120	AAA|AGC		0.313	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		3	16	0	0	0	1	0	3	16				
LRP1B	53353	broad.mit.edu	37	2	141245234	141245234	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:141245234G>T	ENST00000389484.3	-	58	10166	c.9195C>A	c.(9193-9195)ccC>ccA	p.P3065P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3065					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)		GACTGCCATTGGGTCGGCTAG	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(9193-9195)ccC>ccA		low density lipoprotein receptor-related protein 1B							95.0	97.0	96.0					2																	141245234		2203	4292	6495	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245234G>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.9195C>A	2.37:g.141245234G>T		TSP Lung(27;0.18)					p.P3065P	NM_018557.2	NP_061027.2	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)	58	10166	-		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)	3065					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.9195C>A	CCDS2182.1																																																																																				0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	31	1	0	0.00909568	1	0.00998677	4	31				
UNC79	57578	broad.mit.edu	37	14	94158124	94158124	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94158124C>T	ENST00000393151.2	+	47	7419	c.7419C>T	c.(7417-7419)ttC>ttT	p.F2473F	UNC79_ENST00000555664.1_Silent_p.F2434F|UNC79_ENST00000256339.4_Silent_p.F2296F|UNC79_ENST00000553484.1_Silent_p.F2495F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2473					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTCCCTCTTCCACGCGTTCA	0.537																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7483-7485)ttC>ttT		unc-79 homolog (C. elegans)							134.0	112.0	119.0					14																	94158124		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94158124C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7419C>T	14.37:g.94158124C>T						UNC79_ENST00000256339.4_Silent_p.F2296F|UNC79_ENST00000393151.2_Silent_p.F2473F|UNC79_ENST00000555664.1_Silent_p.F2434F	p.F2495F			Q9P2D8	UNC79_HUMAN			48	7639	+			2473					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.7485C>T																																																																																					0.537	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		8	35	0	0	0	1	0	8	35				
HERC1	8925	broad.mit.edu	37	15	63950815	63950815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:63950815C>G	ENST00000443617.2	-	48	9614	c.9527G>C	c.(9526-9528)aGa>aCa	p.R3176T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3176					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCAGTCACTCTCCTTAAAGC	0.512																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(9526-9528)aGa>aCa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							70.0	69.0	70.0					15																	63950815		1973	4169	6142	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63950815C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9527G>C	15.37:g.63950815C>G	ENSP00000390158:p.Arg3176Thr						p.R3176T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			48	9614	-			3176					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9527G>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317875	0.95682	.	.	ENSG00000103657	ENST00000443617	T	0.32515	1.45	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.52837	0.1759	L	0.55481	1.735	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.53920	-0.8370	10	0.72032	D	0.01	.	18.9366	0.92588	0.0:1.0:0.0:0.0	.	3176	Q15751	HERC1_HUMAN	T	3176	ENSP00000390158:R3176T	ENSP00000390158:R3176T	R	-	2	0	HERC1	61737868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.454000	0.82982	0.650000	0.86243	AGA		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	25	0	0	0	1	0	5	25				
NISCH	11188	broad.mit.edu	37	3	52526152	52526152	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:52526152A>C	ENST00000479054.1	+	22	4241	c.4169A>C	c.(4168-4170)tAc>tCc	p.Y1390S	NISCH_ENST00000345716.4_Missense_Mutation_p.Y1390S			Q9Y2I1	NISCH_HUMAN	nischarin	1390					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGTGTCCACTACCCACTGCCC	0.667																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4168-4170)tAc>tCc		nischarin							39.0	47.0	44.0					3																	52526152		2202	4299	6501	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526152A>C	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4169A>C	3.37:g.52526152A>C	ENSP00000418232:p.Tyr1390Ser					NISCH_ENST00000479054.1_Missense_Mutation_p.Y1390S	p.Y1390S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4303	+			1390					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4169A>C	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.251732	0.59212	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.25912	1.77;1.77	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.32530	0.975	0.51767	D	0.999936	D	0.76494	0.999	P	0.60789	0.879	T	0.19712	-1.0297	10	0.87932	D	0	-25.965	15.378	0.74630	1.0:0.0:0.0:0.0	.	1390	Q9Y2I1	NISCH_HUMAN	S	1390;1390;314;734	ENSP00000418232:Y1390S;ENSP00000339958:Y1390S	ENSP00000339958:Y1390S	Y	+	2	0	NISCH	52501192	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	8.599000	0.90856	2.051000	0.60960	0.459000	0.35465	TAC		0.667	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		10	45	0	0	0	1	0	10	45				
MYO10	4651	broad.mit.edu	37	5	16670713	16670713	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:16670713G>T	ENST00000513610.1	-	39	6259	c.5805C>A	c.(5803-5805)aaC>aaA	p.N1935K	MYO10_ENST00000515803.1_Missense_Mutation_p.N1274K|MYO10_ENST00000274203.9_Missense_Mutation_p.N1292K|MYO10_ENST00000505695.1_Missense_Mutation_p.N1274K|MYO10_ENST00000427430.2_Missense_Mutation_p.N1292K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1935	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTGTTCCTGGTTCATTCCCT	0.527																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5803-5805)aaC>aaA		myosin X							82.0	85.0	84.0					5																	16670713		2062	4204	6266	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16670713G>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5805C>A	5.37:g.16670713G>T	ENSP00000421280:p.Asn1935Lys					MYO10_ENST00000515803.1_Missense_Mutation_p.N1274K|MYO10_ENST00000427430.2_Missense_Mutation_p.N1292K|MYO10_ENST00000505695.1_Missense_Mutation_p.N1274K|MYO10_ENST00000274203.9_Missense_Mutation_p.N1292K	p.N1935K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			39	6259	-			1935			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5805C>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368979	0.42003	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.92	3.77	0.43336	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.67702	0.2921	L	0.40543	1.245	0.44079	D	0.996833	B;B;B	0.25390	0.125;0.101;0.009	B;B;B	0.27887	0.084;0.061;0.035	T	0.63633	-0.6593	9	0.35671	T	0.21	.	8.7803	0.34787	0.172:0.1327:0.6953:0.0	.	814;1575;1935	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	K	1935;1274;1292;1274;1292	ENSP00000421280:N1935K;ENSP00000425051:N1274K;ENSP00000274203:N1292K;ENSP00000421170:N1274K;ENSP00000391106:N1292K	ENSP00000274203:N1292K	N	-	3	2	MYO10	16723713	0.305000	0.24481	0.983000	0.44433	0.999000	0.98932	0.591000	0.23969	1.448000	0.47680	0.655000	0.94253	AAC		0.527	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		8	31	1	0	5.18039e-06	1	7.33556e-06	8	31				
CDS1	1040	broad.mit.edu	37	4	85562099	85562099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:85562099C>T	ENST00000295887.5	+	10	1411	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTCCAGCTTCAGACTTACTC	0.418																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(988-990)Cag>Tag		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							143.0	132.0	136.0					4																	85562099		2203	4300	6503	SO:0001587	stop_gained	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85562099C>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.988C>T	4.37:g.85562099C>T	ENSP00000295887:p.Gln330*						p.Q330*	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	10	1411	+		Hepatocellular(203;0.114)	330					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	ENST00000295887.5	37	c.988C>T	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478783	0.96291	.	.	ENSG00000163624	ENST00000295887	.	.	.	5.21	4.35	0.52113	.	0.391141	0.32055	N	0.006647	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-0.334	13.9073	0.63843	0.2904:0.7096:0.0:0.0	.	.	.	.	X	330	.	ENSP00000295887:Q330X	Q	+	1	0	CDS1	85781123	1.000000	0.71417	0.983000	0.44433	0.052000	0.14988	5.915000	0.69973	1.401000	0.46761	0.655000	0.94253	CAG		0.418	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			6	63	0	0	0	1	0	6	63				
CNKSR2	22866	broad.mit.edu	37	X	21627270	21627270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:21627270G>T	ENST00000379510.3	+	20	2263	c.2227G>T	c.(2227-2229)Gag>Tag	p.E743*	CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E694*|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E743*|CNKSR2_ENST00000425654.2_Nonsense_Mutation_p.E713*	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	743					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTCTTCTCATGAGGAGTTTCG	0.532																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2137-2139)Gag>Tag		connector enhancer of kinase suppressor of Ras 2							72.0	71.0	71.0					X																	21627270		2203	4300	6503	SO:0001587	stop_gained	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627270G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2227G>T	X.37:g.21627270G>T	ENSP00000368824:p.Glu743*					CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.E743*|CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.E743*|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.E694*	p.E713*	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2617	+			743					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Nonsense_Mutation	SNP	ENST00000379510.3	37	c.2137G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	39	7.777107	0.98483	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.41	5.41	0.78517	.	0.096626	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.4897	18.19	0.89804	0.0:0.0:1.0:0.0	.	.	.	.	X	713;694;743;743	.	ENSP00000279451:E743X	E	+	1	0	CNKSR2	21537191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.233000	0.73108	0.594000	0.82650	GAG		0.532	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	45	1	0	8.12818e-05	1	0.000104036	7	45				
TBL1XR1	79718	broad.mit.edu	37	3	176768329	176768329	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:176768329C>A	ENST00000430069.1	-	6	756	c.497G>T	c.(496-498)cGg>cTg	p.R166L	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.R166L			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	166					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTCATGGCCCCGCAACACAAC	0.398																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(496-498)cGg>cTg		transducin (beta)-like 1 X-linked receptor 1							85.0	83.0	84.0					3																	176768329		1923	4131	6054	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176768329C>A	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.497G>T	3.37:g.176768329C>A	ENSP00000405574:p.Arg166Leu					TBL1XR1_ENST00000457928.2_Missense_Mutation_p.R166L	p.R166L			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		6	756	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	166					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.497G>T	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492907	0.84962	.	.	ENSG00000177565	ENST00000430069;ENST00000457928	T;T	0.60920	0.15;0.15	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111708	0.64402	D	0.000011	T	0.61553	0.2356	L	0.45352	1.415	0.80722	D	1	P	0.42620	0.785	P	0.47864	0.559	T	0.61628	-0.7024	10	0.52906	T	0.07	-4.1396	18.8249	0.92114	0.0:1.0:0.0:0.0	.	166	Q9BZK7	TBL1R_HUMAN	L	166	ENSP00000405574:R166L;ENSP00000413251:R166L	ENSP00000405574:R166L	R	-	2	0	TBL1XR1	178251023	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.767000	0.85331	2.770000	0.95276	0.655000	0.94253	CGG		0.398	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		4	26	1	0	0.00024832	1	0.000309642	4	26				
CCDC171	203238	broad.mit.edu	37	9	15695295	15695295	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:15695295G>C	ENST00000380701.3	+	11	1606	c.1278G>C	c.(1276-1278)tcG>tcC	p.S426S	CCDC171_ENST00000297641.3_Silent_p.S426S	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	426																	AATTGGAATCGATCTTGGACA	0.383																																						ENST00000380701.3																			0											c.(1276-1278)tcG>tcC		coiled-coil domain containing 171							170.0	159.0	163.0					9																	15695295		2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15695295G>C	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1278G>C	9.37:g.15695295G>C						CCDC171_ENST00000297641.3_Silent_p.S426S	p.S426S	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			11	1606	+			426					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.1278G>C	CCDS6481.1																																																																																				0.383	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		18	40	0	0	0	1	0	18	40				
EPHA7	2045	broad.mit.edu	37	6	94066539	94066539	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:94066539G>T	ENST00000369303.4	-	5	1404	c.1220C>A	c.(1219-1221)gCc>gAc	p.A407D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	407	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTAGCGTGGGCTAGCAGGTC	0.478																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1219-1221)gCc>gAc		EPH receptor A7							128.0	117.0	121.0					6																	94066539		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066539G>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1220C>A	6.37:g.94066539G>T	ENSP00000358309:p.Ala407Asp						p.A407D	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1404	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	407			Fibronectin type-III 1.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1220C>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156033	0.94686	.	.	ENSG00000135333	ENST00000369303	T	0.58940	0.3	5.85	5.85	0.93711	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.84511	2.7	0.80722	D	1	D;D;D	0.76494	0.999;0.959;0.967	D;P;P	0.78314	0.991;0.662;0.772	T	0.79722	-0.1684	10	0.87932	D	0	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	407;407;407	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	D	407	ENSP00000358309:A407D	ENSP00000358309:A407D	A	-	2	0	EPHA7	94123260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.772000	0.95346	0.650000	0.86243	GCC		0.478	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			8	29	1	0	0.00307968	1	0.00354221	8	29				
HTR2C	3358	broad.mit.edu	37	X	113965752	113965752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:113965752C>A	ENST00000276198.1	+	4	813	c.85C>A	c.(85-87)Cca>Aca	p.P29T	HTR2C_ENST00000371951.1_Missense_Mutation_p.P29T|HTR2C_ENST00000371950.3_Missense_Mutation_p.P29T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	29					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCTGTGAGCCCAGTAGCAGC	0.383																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(85-87)Cca>Aca		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						110.0	103.0	106.0					X																	113965752		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965752C>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.85C>A	X.37:g.113965752C>A	ENSP00000276198:p.Pro29Thr					HTR2C_ENST00000371951.1_Missense_Mutation_p.P29T|HTR2C_ENST00000371950.3_Missense_Mutation_p.P29T	p.P29T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	813	+			29					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.85C>A	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012583	0.35511	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.57273	0.41;0.41;0.67	4.57	4.57	0.56435	.	0.088653	0.48767	D	0.000180	T	0.52629	0.1746	N	0.14661	0.345	0.30567	N	0.763868	D;B	0.89917	1.0;0.005	D;B	0.79108	0.992;0.002	T	0.48714	-0.9011	10	0.18276	T	0.48	.	14.1718	0.65514	0.0:1.0:0.0:0.0	.	29;29	B1AMW4;P28335	.;5HT2C_HUMAN	T	29	ENSP00000276198:P29T;ENSP00000361019:P29T;ENSP00000361018:P29T	ENSP00000276198:P29T	P	+	1	0	HTR2C	113872008	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.190000	0.65104	2.520000	0.84964	0.594000	0.82650	CCA		0.383	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		11	45	1	0	9.70103e-10	1	1.58072e-09	11	45				
THSD7A	221981	broad.mit.edu	37	7	11521582	11521582	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:11521582C>G	ENST00000423059.4	-	7	2101	c.1850G>C	c.(1849-1851)aGa>aCa	p.R617T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	617					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GATGGCATCTCTGCACAGCTG	0.493										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1849-1851)aGa>aCa		thrombospondin, type I, domain containing 7A							82.0	84.0	83.0					7																	11521582		2051	4203	6254	SO:0001583	missense	221981					integral to membrane		g.chr7:11521582C>G		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1850G>C	7.37:g.11521582C>G	ENSP00000406482:p.Arg617Thr	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.R617T	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2101	-			617						Missense_Mutation	SNP	ENST00000423059.4	37	c.1850G>C	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196622	0.22037	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58506	0.33	5.95	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	N	0.17901	0.54	0.58432	D	0.999995	B	0.12630	0.006	B	0.13407	0.009	T	0.23084	-1.0198	10	0.15499	T	0.54	.	16.6192	0.84925	0.1305:0.8695:0.0:0.0	.	617	Q9UPZ6	THS7A_HUMAN	T	617	ENSP00000406482:R617T	ENSP00000262042:R617T	R	-	2	0	THSD7A	11488107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.340000	0.52143	2.824000	0.97209	0.655000	0.94253	AGA		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	23	0	0	0	1	0	3	23				
SERPINA12	145264	broad.mit.edu	37	14	94964292	94964292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:94964292C>G	ENST00000341228.2	-	3	1238	c.443G>C	c.(442-444)cGt>cCt	p.R148P	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R148P	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	148					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAAAAACTTACGCTGTGGCTG	0.468																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(442-444)cGt>cCt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							123.0	120.0	121.0					14																	94964292		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964292C>G	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.443G>C	14.37:g.94964292C>G	ENSP00000342109:p.Arg148Pro					SERPINA12_ENST00000556881.1_Missense_Mutation_p.R148P	p.R148P	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1238	-			148						Missense_Mutation	SNP	ENST00000341228.2	37	c.443G>C	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239346	0.22711	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.86497	-2.13;-2.13	5.3	-6.63	0.01807	Serpin domain (3);	1.589730	0.03534	N	0.222835	T	0.61248	0.2332	N	0.00554	-1.385	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60203	-0.7309	10	0.18710	T	0.47	.	10.3325	0.43831	0.0:0.0961:0.0792:0.8246	.	148	Q8IW75	SPA12_HUMAN	P	148	ENSP00000451738:R148P;ENSP00000342109:R148P	ENSP00000342109:R148P	R	-	2	0	SERPINA12	94034045	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.595000	0.24029	-1.625000	0.01554	-0.749000	0.03505	CGT		0.468	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		7	72	0	0	0	1	0	7	72				
PLCXD3	345557	broad.mit.edu	37	5	41382432	41382432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:41382432G>T	ENST00000377801.3	-	2	382	c.308C>A	c.(307-309)cCc>cAc	p.P103H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.P103H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	103	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGTCTCTGGGCTTGGTGGA	0.438																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(307-309)cCc>cAc		phosphatidylinositol-specific phospholipase C, X domain containing 3							80.0	84.0	83.0					5																	41382432		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382432G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.308C>A	5.37:g.41382432G>T	ENSP00000367032:p.Pro103His					PLCXD3_ENST00000328457.3_Missense_Mutation_p.P103H	p.P103H			Q63HM9	PLCX3_HUMAN			2	382	-			103			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.308C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514938	0.85389	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	D	0.85687	0.5754	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85168	0.0996	9	0.46703	T	0.11	-11.003	20.6593	0.99626	0.0:0.0:1.0:0.0	.	103	Q63HM9	PLCX3_HUMAN	H	103	.	ENSP00000333751:P103H	P	-	2	0	PLCXD3	41418189	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.885000	0.99019	0.655000	0.94253	CCC		0.438	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		10	80	1	0	7.48243e-07	1	1.10552e-06	10	80				
AMDHD1	144193	broad.mit.edu	37	12	96350685	96350685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:96350685C>T	ENST00000266736.2	+	4	638	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	178					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCGCGCCCGGCGGGAGCTGGA	0.602																																						ENST00000266736.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						c.(532-534)Cgg>Tgg		amidohydrolase domain containing 1							93.0	100.0	98.0					12																	96350685		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96350685C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.532C>T	12.37:g.96350685C>T	ENSP00000266736:p.Arg178Trp						p.R178W	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN			4	638	+			178					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.532C>T	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870890	0.72065	.	.	ENSG00000139344	ENST00000266736	T	0.44083	0.93	5.57	3.56	0.40772	Metal-dependent hydrolase, composite domain (1);	0.228496	0.46145	D	0.000319	T	0.54967	0.1891	M	0.78049	2.395	0.23282	N	0.997981	D	0.60575	0.988	P	0.52909	0.713	T	0.54105	-0.8343	10	0.87932	D	0	-14.0409	12.7009	0.57032	0.1542:0.7711:0.0:0.0747	.	178	Q96NU7	HUTI_HUMAN	W	178	ENSP00000266736:R178W	ENSP00000266736:R178W	R	+	1	2	AMDHD1	94874816	0.018000	0.18449	0.947000	0.38551	0.947000	0.59692	1.232000	0.32636	1.370000	0.46153	0.491000	0.48974	CGG		0.602	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		13	97	0	0	0	1	0	13	97				
MYH8	4626	broad.mit.edu	37	17	10322097	10322097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10322097C>G	ENST00000403437.2	-	5	470	c.376G>C	c.(376-378)Gtc>Ctc	p.V126L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	126	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(376-378)Gtc>Ctc		myosin, heavy chain 8, skeletal muscle, perinatal							53.0	59.0	57.0					17																	10322097		2198	4279	6477	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10322097C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.376G>C	17.37:g.10322097C>G	ENSP00000384330:p.Val126Leu					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.V126L	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			5	470	-			126			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.376G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462364	0.63513	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90563	-2.69	3.73	3.73	0.42828	Myosin head, motor domain (3);	0.000000	0.37577	U	0.002024	D	0.89993	0.6876	M	0.72624	2.21	0.50632	D	0.999883	B	0.10296	0.003	B	0.20577	0.03	D	0.89252	0.3591	10	0.72032	D	0.01	.	16.034	0.80608	0.0:1.0:0.0:0.0	.	126	P13535	MYH8_HUMAN	L	126	ENSP00000384330:V126L	ENSP00000252173:V126L	V	-	1	0	MYH8	10262822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.518000	0.81795	2.085000	0.62840	0.585000	0.79938	GTC		0.512	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		14	99	0	0	0	1	0	14	99				
NOC2L	26155	broad.mit.edu	37	1	887966	887966	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:887966C>A	ENST00000327044.6	-	10	1066	c.1017G>T	c.(1015-1017)acG>acT	p.T339T	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	339					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)		TCCTCACATACGTGATGTACA	0.627																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(1015-1017)acG>acT		nucleolar complex associated 2 homolog (S. cerevisiae)							74.0	74.0	74.0					1																	887966		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:887966C>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.1017G>T	1.37:g.887966C>A							p.T339T	NM_015658.3	NP_056473.2	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)	10	1066	-	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)	339					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.1017G>T	CCDS3.1																																																																																				0.627	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		4	40	1	0	0.00909568	1	0.00998677	4	40				
GBP1P1	400759	broad.mit.edu	37	1	89890146	89890146	+	RNA	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:89890146C>T	ENST00000513638.1	+	0	887					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		TTTTCAATTCCTGTCTGTCCA	0.448																																						ENST00000513638.1																			0																																																			400759							g.chr1:89890146C>T			1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89890146C>T								NR_003133.2						0	887	+									RNA	SNP	ENST00000513638.1	37																																																																																						0.448	GBP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000360073.1	NR_003133		3	21	0	0	0	1	0	3	21				
OR4A5	81318	broad.mit.edu	37	11	51412329	51412329	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:51412329T>G	ENST00000319760.6	-	1	119	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	23			K -> N (in dbSNP:rs56302591).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATAATGCTTTTTGCACACCA	0.428																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(67-69)Aaa>Caa		olfactory receptor, family 4, subfamily A, member 5							44.0	42.0	43.0					11																	51412329		2200	4296	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412329T>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.67A>C	11.37:g.51412329T>G	ENSP00000367664:p.Lys23Gln						p.K23Q	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	119	-		all_lung(304;0.236)	23		K -> N (in dbSNP:rs56302591).			Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.67A>C	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	4.930	0.172764	0.09391	.	.	ENSG00000221840	ENST00000319760	T	0.00433	7.43	2.01	2.01	0.26516	.	0.291535	0.24630	N	0.036893	T	0.00412	0.0013	M	0.68952	2.095	0.09310	N	1	B	0.23249	0.082	B	0.28784	0.094	T	0.37502	-0.9703	10	0.62326	D	0.03	.	7.9849	0.30205	0.0:0.0:0.0:1.0	.	23	Q8NH83	OR4A5_HUMAN	Q	23	ENSP00000367664:K23Q	ENSP00000367664:K23Q	K	-	1	0	OR4A5	51268905	0.000000	0.05858	0.014000	0.15608	0.221000	0.24807	-0.034000	0.12225	1.181000	0.42912	0.136000	0.15936	AAA		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		5	36	0	0	0	1	0	5	36				
TEX13A	56157	broad.mit.edu	37	X	104464339	104464339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:104464339G>C	ENST00000413579.1	-	3	650	c.539C>G	c.(538-540)gCg>gGg	p.A180G	TEX13A_ENST00000372575.1_Missense_Mutation_p.A180G|TEX13A_ENST00000372578.3_Missense_Mutation_p.A180G|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	180							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGCCACCGCCGCCTCTTCTTC	0.652																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(538-540)gCg>gGg		testis expressed 13A							27.0	33.0	31.0					X																	104464339		2134	4168	6302	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464339G>C	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.539C>G	X.37:g.104464339G>C	ENSP00000399753:p.Ala180Gly					TEX13A_ENST00000372575.1_Missense_Mutation_p.A180G|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.A180G	p.A180G	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	650	-			180					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.539C>G		.	.	.	.	.	.	.	.	.	.	G	5.017	0.188884	0.09547	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.05	1.27	0.21489	.	1.732920	0.03692	N	0.247206	T	0.33760	0.0874	.	.	.	0.09310	N	1	P;P	0.50369	0.934;0.934	P;P	0.46885	0.53;0.53	T	0.15694	-1.0428	8	0.31617	T	0.26	.	4.9904	0.14211	0.3025:0.0:0.6975:0.0	.	180;180	C9JWK0;Q9BXU3	.;TX13A_HUMAN	G	180	.	ENSP00000361656:A180G	A	-	2	0	TEX13A	104350995	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.252000	0.08806	0.216000	0.20781	-0.494000	0.04653	GCG		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	13	0	0	0	1	0	6	13				
TTN	7273	broad.mit.edu	37	2	179587665	179587665	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179587665C>A	ENST00000591111.1	-	74	21235		c.e74-1		TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGGCGGTTCTAAGGAAGAA	0.393																																						ENST00000589042.1																			0				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						c.e76-1		titin							38.0	38.0	38.0					2																	179587665		1949	4157	6106	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587665C>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.21011-1G>T	2.37:g.179587665C>A						TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Intron		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		76	22186	-								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	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	19.94	3.919330	0.73098	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179295910	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.050000	0.71063	2.821000	0.97095	0.650000	0.86243	.		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	5	20	1	0	0.184627	1	0.188945	5	20				
CDX4	1046	broad.mit.edu	37	X	72667520	72667520	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:72667520C>T	ENST00000373514.2	+	1	431	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	144					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCAGGCGCCGCCAAGGCCAGT	0.652																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(430-432)gCc>gTc		caudal type homeobox 4							20.0	19.0	20.0					X																	72667520		2170	4233	6403	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667520C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.431C>T	X.37:g.72667520C>T	ENSP00000362613:p.Ala144Val						p.A144V	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	431	+	Renal(35;0.156)		144					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.431C>T	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	1.040	-0.679097	0.03378	.	.	ENSG00000131264	ENST00000373514	T	0.44482	0.92	2.18	2.18	0.27775	Caudal-like activation domain (1);	1.255940	0.05493	N	0.557019	T	0.28665	0.0710	N	0.16478	0.41	0.09310	N	1	B	0.22800	0.075	B	0.25759	0.063	T	0.18618	-1.0331	10	0.17369	T	0.5	-1.3461	9.7315	0.40363	0.0:1.0:0.0:0.0	.	144	O14627	CDX4_HUMAN	V	144	ENSP00000362613:A144V	ENSP00000362613:A144V	A	+	2	0	CDX4	72584245	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	0.016000	0.13377	1.384000	0.46424	0.432000	0.28606	GCC		0.652	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		4	12	0	0	0	1	0	4	12				
HCN1	348980	broad.mit.edu	37	5	45396631	45396631	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:45396631T>A	ENST00000303230.4	-	4	1250	c.1193A>T	c.(1192-1194)cAg>cTg	p.Q398L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	398					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCCAGAGACTGGATTAAAGC	0.478																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1192-1194)cAg>cTg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							60.0	57.0	58.0					5																	45396631		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396631T>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1193A>T	5.37:g.45396631T>A	ENSP00000307342:p.Gln398Leu						p.Q398L	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			4	1250	-			398						Missense_Mutation	SNP	ENST00000303230.4	37	c.1193A>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761515	0.69763	.	.	ENSG00000164588	ENST00000303230	D	0.97870	-4.58	5.42	5.42	0.78866	.	0.221461	0.31188	N	0.008083	D	0.96586	0.8886	M	0.62154	1.92	0.80722	D	1	B	0.24721	0.11	B	0.27715	0.082	D	0.95317	0.8417	10	0.87932	D	0	.	15.6252	0.76851	0.0:0.0:0.0:1.0	.	398	O60741	HCN1_HUMAN	L	398	ENSP00000307342:Q398L	ENSP00000307342:Q398L	Q	-	2	0	HCN1	45432388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	2.275000	0.75901	0.528000	0.53228	CAG		0.478	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		6	35	0	0	0	1	0	6	35				
OR4C6	219432	broad.mit.edu	37	11	55432908	55432908	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55432908C>G	ENST00000314259.3	+	1	295	c.266C>G	c.(265-267)aCc>aGc	p.T89S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AAGAGCACTACCATCTCTCTC	0.493																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(265-267)aCc>aGc		olfactory receptor, family 4, subfamily C, member 6							170.0	150.0	157.0					11																	55432908		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432908C>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.266C>G	11.37:g.55432908C>G	ENSP00000324769:p.Thr89Ser						p.T89S	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	295	+			89					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.266C>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	5.665	0.307259	0.10733	.	.	ENSG00000181903	ENST00000314259	T	0.00527	6.79	3.83	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.389068	0.18678	N	0.134226	T	0.00608	0.0020	L	0.46741	1.465	0.09310	N	0.999999	P	0.38148	0.62	P	0.45794	0.493	T	0.48768	-0.9006	10	0.44086	T	0.13	.	7.2362	0.26072	0.0:0.7271:0.1719:0.101	.	89	Q8NH72	OR4C6_HUMAN	S	89	ENSP00000324769:T89S	ENSP00000324769:T89S	T	+	2	0	OR4C6	55189484	0.000000	0.05858	0.493000	0.27502	0.027000	0.11550	-1.805000	0.01737	0.600000	0.29862	0.543000	0.68304	ACC		0.493	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		12	79	0	0	0	1	0	12	79				
RP1	6101	broad.mit.edu	37	8	55533787	55533787	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:55533787G>A	ENST00000220676.1	+	2	409	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	87	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCACCCCTCGGGGCAGGCACA	0.592																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(259-261)cgG>cgA		retinitis pigmentosa 1 (autosomal dominant)							96.0	79.0	85.0					8																	55533787		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533787G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.261G>A	8.37:g.55533787G>A							p.R87R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	409	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	87			Doublecortin 1.			Silent	SNP	ENST00000220676.1	37	c.261G>A	CCDS6160.1																																																																																				0.592	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		7	58	0	0	0	1	0	7	58				
ZNF799	90576	broad.mit.edu	37	19	12501532	12501532	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:12501532A>G	ENST00000430385.3	-	4	1880	c.1680T>C	c.(1678-1680)taT>taC	p.Y560Y	ZNF799_ENST00000419318.1_Silent_p.Y528Y|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	560					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GTTGACACTCATAGGGTTTCT	0.418																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1582-1584)taT>taC		zinc finger protein 799							118.0	119.0	119.0					19																	12501532		2203	4300	6503	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501532A>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1680T>C	19.37:g.12501532A>G						ZNF799_ENST00000430385.3_Silent_p.Y560Y|CTD-3105H18.14_ENST00000435033.1_Intron	p.Y528Y			Q96GE5	ZN799_HUMAN			4	2333	-			560						Silent	SNP	ENST00000430385.3	37	c.1584T>C	CCDS45989.1																																																																																				0.418	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		11	125	0	0	0	1	0	11	125				
KEL	3792	broad.mit.edu	37	7	142638490	142638490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142638490C>T	ENST00000355265.2	-	19	2522	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	683					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGGGCTTCCTACACATCAC	0.607																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(2047-2049)aGg>aAg		Kell blood group, metallo-endopeptidase							87.0	89.0	89.0					7																	142638490		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142638490C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2048G>A	7.37:g.142638490C>T	ENSP00000347409:p.Arg683Lys						p.R683K	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			19	2522	-	Melanoma(164;0.059)		683					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.2048G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	9.706	1.155779	0.21454	.	.	ENSG00000197993	ENST00000355265	D	0.82526	-1.62	4.86	4.86	0.63082	Peptidase M13, neprilysin, C-terminal (1);	0.592778	0.16122	N	0.228570	T	0.76681	0.4021	L	0.45051	1.395	0.26279	N	0.978309	B	0.09022	0.002	B	0.09377	0.004	T	0.62110	-0.6923	10	0.23891	T	0.37	-5.5829	13.3716	0.60717	0.0:1.0:0.0:0.0	.	683	P23276	KELL_HUMAN	K	683	ENSP00000347409:R683K	ENSP00000347409:R683K	R	-	2	0	KEL	142348612	0.000000	0.05858	0.714000	0.30535	0.009000	0.06853	-0.008000	0.12788	2.532000	0.85374	0.651000	0.88453	AGG		0.607	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		4	53	0	0	0	1	0	4	53				
CDH17	1015	broad.mit.edu	37	8	95164106	95164106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:95164106G>T	ENST00000027335.3	-	13	1910	c.1786C>A	c.(1786-1788)Ctg>Atg	p.L596M	CDH17_ENST00000441892.2_Missense_Mutation_p.L382M|CDH17_ENST00000450165.2_Missense_Mutation_p.L596M	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTATGTCCAGACCTTCTGGA	0.547																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1786-1788)Ctg>Atg		cadherin 17, LI cadherin (liver-intestine)							154.0	111.0	126.0					8																	95164106		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95164106G>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1786C>A	8.37:g.95164106G>T	ENSP00000027335:p.Leu596Met					CDH17_ENST00000441892.2_Missense_Mutation_p.L382M|CDH17_ENST00000450165.2_Missense_Mutation_p.L596M	p.L596M	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		13	1910	-	Breast(36;4.65e-06)		596			Cadherin 6.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1786C>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624325	0.46840	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.51574	0.7;0.7;0.7	5.72	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.000000	0.43416	D	0.000561	T	0.56688	0.2002	L	0.57536	1.79	0.09310	N	1	D;D	0.69078	0.991;0.997	D;D	0.67231	0.95;0.949	T	0.43798	-0.9369	10	0.56958	D	0.05	-12.7535	5.7217	0.17990	0.2444:0.1457:0.6099:0.0	.	382;596	E7EN24;Q12864	.;CAD17_HUMAN	M	596;382;596	ENSP00000027335:L596M;ENSP00000392811:L382M;ENSP00000401468:L596M	ENSP00000027335:L596M	L	-	1	2	CDH17	95233282	0.006000	0.16342	0.979000	0.43373	0.963000	0.63663	0.500000	0.22562	0.885000	0.36088	0.655000	0.94253	CTG		0.547	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		13	35	1	0	7.03913e-09	1	1.12308e-08	13	35				
KIF16B	55614	broad.mit.edu	37	20	16506793	16506793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:16506793C>G	ENST00000354981.2	-	3	332	c.175G>C	c.(175-177)Gac>Cac	p.D59H	KIF16B_ENST00000355755.3_Missense_Mutation_p.D59H|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.D59H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGAAAAGTCATAGGTGAAG	0.328																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(175-177)Gac>Cac		kinesin family member 16B							160.0	162.0	161.0					20																	16506793		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16506793C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.175G>C	20.37:g.16506793C>G	ENSP00000347076:p.Asp59His					KIF16B_ENST00000408042.1_Missense_Mutation_p.D59H|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.D59H	p.D59H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			3	332	-			59			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.175G>C	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061643	0.76187	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	D;D;D	0.83075	-1.68;-1.68;-1.68	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.95324	0.8423	10	0.87932	D	0	.	16.3705	0.83355	0.0:1.0:0.0:0.0	.	59;59;59;59	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	H	59	ENSP00000347076:D59H;ENSP00000347995:D59H;ENSP00000384164:D59H	ENSP00000347076:D59H	D	-	1	0	KIF16B	16454793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.333000	0.65917	2.584000	0.87258	0.557000	0.71058	GAC		0.328	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		10	75	0	0	0	1	0	10	75				
SNX4	8723	broad.mit.edu	37	3	125208297	125208297	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:125208297C>A	ENST00000251775.4	-	6	632	c.608G>T	c.(607-609)aGg>aTg	p.R203M	SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Missense_Mutation_p.R58M	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	203					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CGCTTTTAACCTGGAGTCTGC	0.313																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(607-609)aGg>aTg		sorting nexin 4							91.0	89.0	89.0					3																	125208297		2202	4299	6501	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125208297C>A	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.608G>T	3.37:g.125208297C>A	ENSP00000251775:p.Arg203Met					SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Missense_Mutation_p.R58M	p.R203M	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			6	632	-			203					B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.608G>T	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153214	0.57259	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.44881	0.91;1.94	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	L	0.50333	1.59	0.80722	D	1	P	0.41159	0.74	B	0.35931	0.214	T	0.34403	-0.9830	10	0.41790	T	0.15	-17.3547	18.535	0.91008	0.0:1.0:0.0:0.0	.	203	O95219	SNX4_HUMAN	M	203;58	ENSP00000251775:R203M;ENSP00000440824:R58M	ENSP00000251775:R203M	R	-	2	0	SNX4	126690987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.835000	0.75344	2.596000	0.87737	0.591000	0.81541	AGG		0.313	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		3	27	1	0	1	1	1	3	27				
CARD9	64170	broad.mit.edu	37	9	139264313	139264313	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:139264313C>A	ENST00000371732.5	-	7	1131	c.966G>T	c.(964-966)aaG>aaT	p.K322N	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000315908.7_Missense_Mutation_p.K322N|CARD9_ENST00000371734.3_Missense_Mutation_p.K322N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	322					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGAACATCTCCTTCTCCTCCA	0.627																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(964-966)aaG>aaT		caspase recruitment domain family, member 9							110.0	82.0	91.0					9																	139264313		2201	4300	6501	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139264313C>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.966G>T	9.37:g.139264313C>A	ENSP00000360797:p.Lys322Asn					CARD9_ENST00000371734.3_Missense_Mutation_p.K322N|CARD9_ENST00000315908.7_Missense_Mutation_p.K322N	p.K322N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	7	1131	-		Myeloproliferative disorder(178;0.0511)	322					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.966G>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375774	0.42105	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.36878	1.23;1.23;1.23	3.9	3.0	0.34707	.	0.062472	0.64402	D	0.000009	T	0.29458	0.0734	L	0.61218	1.895	0.52099	D	0.999941	P;B;B	0.35872	0.525;0.103;0.062	B;B;B	0.33454	0.164;0.117;0.034	T	0.04242	-1.0966	10	0.23302	T	0.38	-33.1021	7.3059	0.26447	0.0:0.7692:0.0:0.2308	.	218;322;322	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	N	322	ENSP00000360799:K322N;ENSP00000360797:K322N;ENSP00000323719:K322N	ENSP00000323719:K322N	K	-	3	2	CARD9	138384134	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.103000	0.31062	0.850000	0.35239	0.462000	0.41574	AAG		0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		3	19	1	0	6.4e-05	1	8.33271e-05	3	19				
NR1I2	8856	broad.mit.edu	37	3	119526084	119526084	+	Missense_Mutation	SNP	G	G	A	rs200626488		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:119526084G>A	ENST00000337940.4	+	2	152	c.104G>A	c.(103-105)gGc>gAc	p.G35D	NR1I2_ENST00000393716.2_5'UTR|NR1I2_ENST00000466380.1_5'UTR	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	0					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	AGTCCAAGAGGCCCAGAAGCA	0.493																																						ENST00000337940.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(103-105)gGc>gAc		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						72.0	73.0	73.0					3																	119526084		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119526084G>A	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.104G>A	3.37:g.119526084G>A	ENSP00000336528:p.Gly35Asp					NR1I2_ENST00000393716.2_5'UTR|NR1I2_ENST00000466380.1_5'UTR	p.G35D	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	2	152	+			0					Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.104G>A	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745728	0.30955	.	.	ENSG00000144852	ENST00000337940	D	0.91894	-2.93	4.49	1.35	0.21983	.	6.297510	0.00508	N	0.000172	D	0.85835	0.5789	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.71889	-0.4456	10	0.72032	D	0.01	.	2.6956	0.05134	0.2814:0.0:0.4977:0.2209	.	35	F1D8P9	.	D	35	ENSP00000336528:G35D	ENSP00000336528:G35D	G	+	2	0	NR1I2	121008774	0.118000	0.22208	0.001000	0.08648	0.990000	0.78478	0.346000	0.19997	0.071000	0.16664	0.591000	0.81541	GGC		0.493	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			4	33	0	0	0	1	0	4	33				
PRSS58	136541	broad.mit.edu	37	7	141955030	141955030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:141955030G>T	ENST00000552471.1	-	3	600	c.281C>A	c.(280-282)tCa>tAa	p.S94*	PRSS58_ENST00000547058.2_Nonsense_Mutation_p.S94*			Q8IYP2	PRS58_HUMAN	protease, serine, 58	94	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGAAGTGACTGAGAAGTGTGG	0.418																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(280-282)tCa>tAa		protease, serine, 58							207.0	188.0	195.0					7																	141955030		2203	4300	6503	SO:0001587	stop_gained	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955030G>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.281C>A	7.37:g.141955030G>T	ENSP00000446916:p.Ser94*					PRSS58_ENST00000547058.2_Nonsense_Mutation_p.S94*	p.S94*			Q8IYP2	PRS58_HUMAN			3	600	-			94			Peptidase S1.		B3KVJ6|D3DXD2	Nonsense_Mutation	SNP	ENST00000552471.1	37	c.281C>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250938	0.59212	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	4.89	1.01	0.19927	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	8.7836	0.34807	0.3367:0.0:0.6633:0.0	.	.	.	.	X	94	.	ENSP00000307206:S94X	S	-	2	0	PRSS58	141601507	0.993000	0.37304	0.002000	0.10522	0.004000	0.04260	2.327000	0.43858	0.339000	0.23719	0.650000	0.86243	TCA		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		11	84	1	0	9.70103e-10	1	1.58072e-09	11	84				
LUC7L	55692	broad.mit.edu	37	16	242964	242964	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:242964C>T	ENST00000293872.8	-	7	848	c.738G>A	c.(736-738)agG>agA	p.R246R	LUC7L_ENST00000397783.1_Silent_p.R246R|LUC7L_ENST00000397780.1_Silent_p.R193R|LUC7L_ENST00000337351.4_Silent_p.R246R	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	246	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TCTCCTCTCTCCTCCTCAAGC	0.522																																						ENST00000337351.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11						c.(736-738)agG>agA		LUC7-like (S. cerevisiae)							276.0	254.0	262.0					16																	242964		2203	4300	6503	SO:0001819	synonymous_variant	55692						metal ion binding	g.chr16:242964C>T	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.738G>A	16.37:g.242964C>T						LUC7L_ENST00000293872.8_Silent_p.R246R|LUC7L_ENST00000397780.1_Silent_p.R193R|LUC7L_ENST00000397783.1_Silent_p.R246R	p.R246R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN			7	861	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	246			Arg/Ser-rich.		B8ZZ13|Q96S32|Q9NPH4	Silent	SNP	ENST00000293872.8	37	c.738G>A	CCDS32348.1																																																																																				0.522	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			15	76	0	0	0	1	0	15	76				
DNMT1	1786	broad.mit.edu	37	19	10271081	10271081	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:10271081C>A	ENST00000340748.4	-	13	1209	c.974G>T	c.(973-975)cGc>cTc	p.R325L	DNMT1_ENST00000359526.4_Missense_Mutation_p.R341L|DNMT1_ENST00000540357.1_Missense_Mutation_p.R325L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	325	Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGTCGTTTTGCGTCTCTTCTC	0.388																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(973-975)cGc>cTc		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						103.0	99.0	100.0					19																	10271081		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10271081C>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.974G>T	19.37:g.10271081C>A	ENSP00000345739:p.Arg325Leu					DNMT1_ENST00000359526.4_Missense_Mutation_p.R341L|DNMT1_ENST00000540357.1_Missense_Mutation_p.R325L	p.R325L			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		13	1209	-			325			Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.974G>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	8.708	0.911416	0.17833	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.80123	-1.34;1.56;1.56	4.11	4.11	0.48088	.	0.212494	0.40064	N	0.001185	T	0.65217	0.2670	N	0.24115	0.695	0.31172	N	0.703147	B;B;B	0.27679	0.007;0.185;0.004	B;B;B	0.25987	0.025;0.065;0.011	T	0.59123	-0.7513	10	0.10111	T	0.7	.	12.2247	0.54453	0.0:1.0:0.0:0.0	.	325;341;325	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	L	341;325;325;193	ENSP00000352516:R341L;ENSP00000440457:R325L;ENSP00000345739:R325L	ENSP00000345739:R325L	R	-	2	0	DNMT1	10132081	0.971000	0.33674	0.962000	0.40283	0.878000	0.50629	1.631000	0.37092	2.600000	0.87896	0.644000	0.83932	CGC		0.388	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		3	29	1	0	0.115264	1	0.120372	3	29				
RAD23A	5886	broad.mit.edu	37	19	13063836	13063836	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:13063836C>A	ENST00000586534.1	+	9	1126	c.1065C>A	c.(1063-1065)ctC>ctA	p.L355L	RAD23A_ENST00000316856.3_Silent_p.L354L|RAD23A_ENST00000541222.1_Silent_p.L190L|RAD23A_ENST00000592268.1_Silent_p.L300L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	355	HIV-1 vpr binding.|UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCAACTTCCTCCTGAGTCAGA	0.483								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(1063-1065)ctC>ctA	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							84.0	80.0	81.0					19																	13063836		2203	4300	6503	SO:0001819	synonymous_variant	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13063836C>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.1065C>A	19.37:g.13063836C>A						RAD23A_ENST00000541222.1_Silent_p.L190L|RAD23A_ENST00000592268.1_Silent_p.L300L|RAD23A_ENST00000316856.3_Silent_p.L354L	p.L355L			P54725	RD23A_HUMAN			9	1126	+			355			HIV-1 vpr binding.|UBA 2.		K7ESE3|Q59EU8|Q5M7Z1	Silent	SNP	ENST00000586534.1	37	c.1065C>A	CCDS12289.1																																																																																				0.483	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		6	51	1	0	0.00116845	1	0.00137844	6	51				
MYBPC2	4606	broad.mit.edu	37	19	50944198	50944198	+	Missense_Mutation	SNP	C	C	A	rs143152934		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:50944198C>A	ENST00000357701.5	+	8	685	c.634C>A	c.(634-636)Ccg>Acg	p.P212T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	212					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGCATCCCCCCGGAGATTTG	0.582																																						ENST00000357701.5																			0				breast(1)	1						c.(634-636)Ccg>Acg		myosin binding protein C, fast type							39.0	41.0	41.0					19																	50944198		1971	4175	6146	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944198C>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.634C>A	19.37:g.50944198C>A	ENSP00000350332:p.Pro212Thr						p.P212T	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	685	+		all_neural(266;0.057)	212					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.634C>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	14.11	2.437250	0.43224	.	.	ENSG00000086967	ENST00000357701	T	0.55052	0.54	3.33	2.29	0.28610	.	0.000000	0.35151	U	0.003407	T	0.36552	0.0971	N	0.14661	0.345	0.27993	N	0.935579	P	0.38745	0.645	P	0.45071	0.468	T	0.25257	-1.0137	10	0.13470	T	0.59	.	10.1863	0.43000	0.0:0.8937:0.0:0.1063	.	212	Q14324	MYPC2_HUMAN	T	212	ENSP00000350332:P212T	ENSP00000350332:P212T	P	+	1	0	MYBPC2	55636010	0.721000	0.28007	0.940000	0.37924	0.905000	0.53344	3.553000	0.53713	0.981000	0.38548	0.298000	0.19748	CCG		0.582	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		3	21	1	0	1	1	1	3	21				
CD248	57124	broad.mit.edu	37	11	66083298	66083298	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:66083298T>G	ENST00000311330.3	-	1	1217	c.1201A>C	c.(1201-1203)Acg>Ccg	p.T401P	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	401	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGCGGCTGCGTAGGCTCCATC	0.627																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1201-1203)Acg>Ccg		CD248 molecule, endosialin	Cefalotin(DB00456)						83.0	81.0	81.0					11																	66083298		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083298T>G	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1201A>C	11.37:g.66083298T>G	ENSP00000308117:p.Thr401Pro					RP11-867G23.13_ENST00000534065.1_RNA	p.T401P	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1217	-			401			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1201A>C	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775015	0.49786	.	.	ENSG00000174807	ENST00000311330	D	0.87809	-2.3	4.43	3.25	0.37280	.	0.431663	0.22617	N	0.057750	D	0.85089	0.5617	N	0.24115	0.695	0.39539	D	0.968784	D	0.58268	0.982	P	0.61940	0.896	T	0.81415	-0.0943	10	0.30854	T	0.27	-7.7567	8.2704	0.31840	0.1778:0.0:0.0:0.8222	.	401	Q9HCU0	CD248_HUMAN	P	401	ENSP00000308117:T401P	ENSP00000308117:T401P	T	-	1	0	CD248	65839874	0.460000	0.25776	0.781000	0.31783	0.587000	0.36485	0.333000	0.19768	0.689000	0.31550	0.379000	0.24179	ACG		0.627	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		6	65	0	0	0	1	0	6	65				
PANX2	56666	broad.mit.edu	37	22	50615643	50615643	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:50615643G>A	ENST00000395842.2	+	2	502	c.502G>A	c.(502-504)Gcg>Acg	p.A168T	PANX2_ENST00000159647.5_Missense_Mutation_p.A168T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	168					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TTACCACCGGGCGGCCGAGGG	0.657																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(502-504)Gcg>Acg		pannexin 2							19.0	19.0	19.0					22																	50615643		2190	4294	6484	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615643G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.502G>A	22.37:g.50615643G>A	ENSP00000379183:p.Ala168Thr					PANX2_ENST00000159647.5_Missense_Mutation_p.A168T	p.A168T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	502	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	168					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.502G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589789	0.86851	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.30182	1.54;1.54	4.77	4.77	0.60923	.	0.064522	0.64402	D	0.000008	T	0.51517	0.1679	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.935;0.979	T	0.50406	-0.8832	10	0.48119	T	0.1	-32.9912	18.1383	0.89630	0.0:0.0:1.0:0.0	.	168;168	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	168	ENSP00000159647:A168T;ENSP00000379183:A168T	ENSP00000159647:A168T	A	+	1	0	PANX2	48957770	1.000000	0.71417	0.598000	0.28837	0.906000	0.53458	9.557000	0.98129	2.375000	0.81037	0.555000	0.69702	GCG		0.657	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		4	12	0	0	0	1	0	4	12				
NLRP14	338323	broad.mit.edu	37	11	7064265	7064265	+	Missense_Mutation	SNP	G	G	T	rs144493780	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:7064265G>T	ENST00000299481.4	+	4	1354	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	336	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGCAAGAGAGGAGTATATTT	0.398																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1006-1008)gaG>gaT		NLR family, pyrin domain containing 14							103.0	107.0	106.0					11																	7064265		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064265G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1008G>T	11.37:g.7064265G>T	ENSP00000299481:p.Glu336Asp						p.E336D	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1354	+			336			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1008G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361464	0.24684	.	.	ENSG00000158077	ENST00000299481	D	0.81499	-1.5	4.51	-2.76	0.05896	NACHT nucleoside triphosphatase (1);	1.303170	0.05163	N	0.498148	T	0.67581	0.2908	L	0.43923	1.385	0.19300	N	0.999979	B	0.22909	0.077	B	0.22152	0.038	T	0.44283	-0.9338	10	0.26408	T	0.33	.	0.406	0.00433	0.3257:0.1291:0.2818:0.2634	.	336	Q86W24	NAL14_HUMAN	D	336	ENSP00000299481:E336D	ENSP00000299481:E336D	E	+	3	2	NLRP14	7020841	0.987000	0.35691	0.001000	0.08648	0.596000	0.36781	0.663000	0.25053	-0.623000	0.05618	-0.150000	0.13652	GAG		0.398	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		7	69	1	0	8.12818e-05	1	0.000104036	7	69				
GLYATL1	92292	broad.mit.edu	37	11	58723315	58723315	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:58723315G>T	ENST00000317391.4	+	8	1064	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.G273C	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	242						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCGAAGGACAGGCAACATGGC	0.483																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(817-819)Ggc>Tgc		glycine-N-acyltransferase-like 1	Glycine(DB00145)						79.0	71.0	74.0					11																	58723315		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723315G>T	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.724G>T	11.37:g.58723315G>T	ENSP00000322223:p.Gly242Cys					RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.G242C	p.G273C	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			7	867	+			242					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.817G>T	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.963612	0.34659	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.80123	-1.34;-1.34	1.97	1.97	0.26223	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.203300	0.30969	U	0.008511	D	0.86218	0.5880	M	0.75085	2.285	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.75311	-0.3362	10	0.87932	D	0	.	7.0213	0.24916	0.0:0.0:1.0:0.0	.	273;242	Q969I3-2;Q969I3	.;GLYL1_HUMAN	C	219;242;273	ENSP00000322223:G242C;ENSP00000300079:G273C	ENSP00000300079:G273C	G	+	1	0	GLYATL1	58479891	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.755000	0.26405	0.886000	0.36113	0.411000	0.27672	GGC		0.483	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		9	40	1	0	0.00448238	1	0.00513629	9	40				
TTN	7273	broad.mit.edu	37	2	179451302	179451302	+	Silent	SNP	C	C	T	rs377109969		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179451302C>T	ENST00000591111.1	-	258	59627	c.59403G>A	c.(59401-59403)gcG>gcA	p.A19801A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.A12502A|TTN_ENST00000589042.1_Silent_p.A21442A|TTN_ENST00000460472.2_Silent_p.A12377A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.A18874A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.A12569A			Q8WZ42	TITIN_HUMAN	titin	19801	Fibronectin type-III 43. {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)			CATTTCTGGCCGCTACTCTAA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19540	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			0				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						c.(64324-64326)gcG>gcA		titin		C	,,,	1,3993		0,1,1996	103.0	105.0	104.0		37131,56622,37506,37707	-8.7	0.0	2		104	2,8368		0,2,4183	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,3,6179	TT,TC,CC		0.0239,0.025,0.0243	,,,	12377/26927,18874/33424,12502/27052,12569/27119	179451302	3,12361	1997	4185	6182	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451302C>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.59403G>A	2.37:g.179451302C>T						TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.A19801A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Silent_p.A12377A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.A12569A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A18874A|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.A12502A	p.A21442A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		308	64550	-			19801			Fibronectin type-III 55.		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.64326G>A																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	48	0	0	0	1	0	8	48				
BICC1	80114	broad.mit.edu	37	10	60558836	60558836	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:60558836C>A	ENST00000373886.3	+	12	1553	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	BICC1_ENST00000263103.1_Missense_Mutation_p.L143I	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	517					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						TATACCACACCTTATGATTCC	0.378																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1549-1551)Ctt>Att		bicaudal C homolog 1 (Drosophila)							76.0	72.0	73.0					10																	60558836		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60558836C>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.1549C>A	10.37:g.60558836C>A	ENSP00000362993:p.Leu517Ile					BICC1_ENST00000263103.1_Missense_Mutation_p.L143I	p.L517I	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			12	1553	+			517						Missense_Mutation	SNP	ENST00000373886.3	37	c.1549C>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071661	0.76301	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.53206	1.49;0.63	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.62723	1.935	0.49389	D	0.999785	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.978	T	0.65154	-0.6237	10	0.66056	D	0.02	-12.8195	11.7287	0.51724	0.0:0.8647:0.0:0.1353	.	437;517	E7EU62;Q9H694	.;BICC1_HUMAN	I	517;143	ENSP00000362993:L517I;ENSP00000263103:L143I	ENSP00000263103:L143I	L	+	1	0	BICC1	60228842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.339000	0.52135	2.850000	0.98022	0.650000	0.86243	CTT		0.378	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		4	33	1	0	0.184627	1	0.188945	4	33				
SLFN13	146857	broad.mit.edu	37	17	33768387	33768387	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:33768387T>A	ENST00000285013.6	-	6	2198		c.e6-2		SLFN13_ENST00000533791.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000360502.2_Splice_Site|SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13							intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTCTATCACTGTAAAAATTA	0.383																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.e6-2		schlafen family member 13							36.0	42.0	40.0					17																	33768387		2051	4247	6298	SO:0001630	splice_region_variant	146857					intracellular	ATP binding	g.chr17:33768387T>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1923-2A>T	17.37:g.33768387T>A						SLFN13_ENST00000533791.1_Splice_Site|SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site|SLFN13_ENST00000360502.2_Splice_Site		NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2198	-								E1P645|Q658M1|Q6ZS51|Q96A81	Splice_Site	SNP	ENST00000285013.6	37		CCDS32620.1	.	.	.	.	.	.	.	.	.	.	.	7.894	0.732951	0.15507	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.34540	D	0.710188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1596	0.31190	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLFN13	30792500	0.979000	0.34478	0.007000	0.13788	0.007000	0.05969	4.520000	0.60524	1.489000	0.48450	0.172000	0.16884	.		0.383	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	Intron	7	53	0	0	0	1	0	7	53				
ASXL3	80816	broad.mit.edu	37	18	31323053	31323053	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:31323053A>G	ENST00000269197.5	+	12	3241	c.3241A>G	c.(3241-3243)Agc>Ggc	p.S1081G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1081					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCTGCAGCGAGCATTGTCTC	0.587																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3241-3243)Agc>Ggc		additional sex combs like 3 (Drosophila)							26.0	29.0	28.0					18																	31323053		1892	4099	5991	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323053A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3241A>G	18.37:g.31323053A>G	ENSP00000269197:p.Ser1081Gly						p.S1081G	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3241	+			1081					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3241A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476734	0.44044	.	.	ENSG00000141431	ENST00000269197	T	0.52754	0.65	5.9	5.9	0.94986	.	0.978187	0.08421	N	0.948408	T	0.58352	0.2116	N	0.19112	0.55	0.42293	D	0.992144	D	0.69078	0.997	D	0.75020	0.985	T	0.51482	-0.8700	10	0.46703	T	0.11	.	16.3352	0.83056	1.0:0.0:0.0:0.0	.	1081	Q9C0F0	ASXL3_HUMAN	G	1081	ENSP00000269197:S1081G	ENSP00000269197:S1081G	S	+	1	0	ASXL3	29577051	1.000000	0.71417	0.931000	0.37212	0.605000	0.37080	4.849000	0.62882	2.248000	0.74166	0.528000	0.53228	AGC		0.587	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			4	32	0	0	0	1	0	4	32				
DOK5	55816	broad.mit.edu	37	20	53208300	53208300	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:53208300G>T	ENST00000262593.5	+	5	905	c.555G>T	c.(553-555)cgG>cgT	p.R185R	DOK5_ENST00000395939.1_Silent_p.R77R	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	185	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCGCCCTGCGGCGGTATGGAC	0.453																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(553-555)cgG>cgT		docking protein 5							128.0	115.0	119.0					20																	53208300		2203	4300	6503	SO:0001819	synonymous_variant	55816						insulin receptor binding	g.chr20:53208300G>T	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.555G>T	20.37:g.53208300G>T						DOK5_ENST00000395939.1_Silent_p.R77R	p.R185R	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		5	905	+			185			IRS-type PTB.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	ENST00000262593.5	37	c.555G>T	CCDS13446.1																																																																																				0.453	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			6	51	1	0	0.00116845	1	0.00137844	6	51				
COBLL1	22837	broad.mit.edu	37	2	165586547	165586547	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:165586547C>A	ENST00000392717.2	-	4	427	c.423G>T	c.(421-423)ttG>ttT	p.L141F	COBLL1_ENST00000375458.2_Missense_Mutation_p.L103F|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.L156F|COBLL1_ENST00000409184.3_Missense_Mutation_p.L141F|COBLL1_ENST00000342193.4_Missense_Mutation_p.L103F			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	141						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTTCAGCTGACAACAGATCGA	0.338																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(307-309)ttG>ttT		cordon-bleu WH2 repeat protein-like 1							161.0	146.0	151.0					2																	165586547		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165586547C>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.423G>T	2.37:g.165586547C>A	ENSP00000376478:p.Leu141Phe					COBLL1_ENST00000194871.6_Missense_Mutation_p.L156F|COBLL1_ENST00000409184.3_Missense_Mutation_p.L141F|COBLL1_ENST00000342193.4_Missense_Mutation_p.L103F|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.L141F	p.L103F	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			3	530	-			141					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.309G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.037867|3.037867	0.54896|0.54896	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693;ENST00000448708;ENST00000439313;ENST00000444537;ENST00000414843|ENST00000452626	D;D;D;D;D;D;D;D;D;D|.	0.92397|.	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03;-3.03|.	5.69|5.69	-0.688|-0.688	0.11317|0.11317	Cordon-bleu domain (1);|.	0.402514|.	0.27473|.	N|.	0.019208|.	T|T	0.26666|0.26666	0.0652|0.0652	L|L	0.31065|0.31065	0.9|0.9	0.30541|0.30541	N|N	0.766423|0.766423	D;D;D|.	0.64830|.	0.994;0.994;0.993|.	D;D;P|.	0.63703|.	0.917;0.917;0.809|.	T|T	0.31998|0.31998	-0.9923|-0.9923	10|5	0.52906|.	T|.	0.07|.	-3.555|-3.555	2.56|2.56	0.04770|0.04770	0.101:0.3535:0.2972:0.2482|0.101:0.3535:0.2972:0.2482	.|.	141;156;141|.	Q53SF7;B7Z2P5;Q53SF7-2|.	COBL1_HUMAN;.;.|.	F|F	103;103;141;141;156;78;103;110;125;103|106	ENSP00000364607:L103F;ENSP00000341360:L103F;ENSP00000387326:L141F;ENSP00000376478:L141F;ENSP00000194871:L156F;ENSP00000397520:L78F;ENSP00000406062:L103F;ENSP00000397835:L110F;ENSP00000409237:L125F;ENSP00000387967:L103F|.	ENSP00000194871:L156F|.	L|V	-|-	3|1	2|0	COBLL1|COBLL1	165294793|165294793	0.126000|0.126000	0.22350|0.22350	0.970000|0.970000	0.41538|0.41538	0.890000|0.890000	0.51754|0.51754	-0.530000|-0.530000	0.06179|0.06179	-0.159000|-0.159000	0.11021|0.11021	-0.142000|-0.142000	0.14014|0.14014	TTG|GTC		0.338	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		10	48	1	0	1.58986e-06	1	2.32287e-06	10	48				
OR5AC2	81050	broad.mit.edu	37	3	97806633	97806633	+	Missense_Mutation	SNP	C	C	G	rs368280029		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:97806633C>G	ENST00000358642.2	+	1	617	c.617C>G	c.(616-618)gCt>gGt	p.A206G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	206					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTTTTGGTGCTTTTATACAA	0.299																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(616-618)gCt>gGt		olfactory receptor, family 5, subfamily AC, member 2							39.0	41.0	40.0					3																	97806633		2203	4299	6502	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806633C>G	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.617C>G	3.37:g.97806633C>G	ENSP00000351466:p.Ala206Gly						p.A206G	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	617	+			206						Missense_Mutation	SNP	ENST00000358642.2	37	c.617C>G	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.299618	0.01364	.	.	ENSG00000196578	ENST00000358642	T	0.37058	1.22	4.51	-4.22	0.03800	GPCR, rhodopsin-like superfamily (1);	2.104420	0.03184	U	0.172472	T	0.09158	0.0226	N	0.00996	-1.065	0.09310	N	1	B	0.09022	0.002	B	0.20384	0.029	T	0.21655	-1.0239	10	0.02654	T	1	-3.0245	1.3902	0.02249	0.1216:0.2696:0.2407:0.368	.	206	Q9NZP5	O5AC2_HUMAN	G	206	ENSP00000351466:A206G	ENSP00000351466:A206G	A	+	2	0	OR5AC2	99289323	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.964000	0.00671	-0.910000	0.03847	0.590000	0.80494	GCT		0.299	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			4	50	0	0	0	1	0	4	50				
PDGFRA	5156	broad.mit.edu	37	4	55144595	55144595	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:55144595G>T	ENST00000257290.5	+	15	2400	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R450M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CATAAGAATAGGGATAGCTTC	0.463			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2068-2070)aGg>aTg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						101.0	99.0	99.0					4																	55144595		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55144595G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2069G>T	4.37:g.55144595G>T	ENSP00000257290:p.Arg690Met	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.R450M	p.R690M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		15	2400	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		690			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2069G>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164260	0.94727	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.80994	-1.44;-1.44	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34853	U	0.003634	D	0.91392	0.7284	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	D	0.91486	0.5208	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	690;690	P16234-3;P16234	.;PGFRA_HUMAN	M	450;690	ENSP00000423325:R450M;ENSP00000257290:R690M	ENSP00000423325:R450M	R	+	2	0	FIP1L1;PDGFRA	54839352	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.645000	0.74343	2.882000	0.98803	0.655000	0.94253	AGG		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		6	45	1	0	3.59834e-05	1	4.79257e-05	6	45				
SYNE1	23345	broad.mit.edu	37	6	152536195	152536195	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:152536195C>A	ENST00000367255.5	-	122	22793	c.22192G>T	c.(22192-22194)Gga>Tga	p.G7398*	SYNE1_ENST00000265368.4_Splice_Site_p.G7398*|SYNE1_ENST00000341594.5_Splice_Site_p.G7010*|SYNE1_ENST00000356820.4_Splice_Site_p.G1922*|SYNE1_ENST00000423061.1_Splice_Site_p.G7327*|SYNE1_ENST00000448038.1_Splice_Site_p.G7327*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7398					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACATCTGTCCCTAGAAGGAA	0.378										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e122-1		spectrin repeat containing, nuclear envelope 1							101.0	98.0	99.0					6																	152536195		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152536195C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22192-1G>T	6.37:g.152536195C>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Splice_Site_p.G7010_splice|SYNE1_ENST00000265368.4_Splice_Site_p.G7398_splice|SYNE1_ENST00000356820.4_Splice_Site_p.G1922_splice|SYNE1_ENST00000448038.1_Splice_Site_p.G7327_splice|SYNE1_ENST00000423061.1_Splice_Site_p.G7327_splice	p.G7398_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	122	22793	-		Ovarian(120;0.0955)	7398					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.22191_splice	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	48	14.173169	0.99783	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	.	.	.	5.97	5.97	0.96955	.	0.214939	0.33272	N	0.005089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	5.7514	0.18148	0.17:0.6845:0.0:0.1456	.	.	.	.	X	7398;44;7327;7398;7327;7010;1922;320	.	ENSP00000265368:G7398X	G	-	1	0	SYNE1	152577888	0.998000	0.40836	1.000000	0.80357	0.903000	0.53119	2.018000	0.40991	2.834000	0.97654	0.650000	0.86243	GGA		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Nonsense_Mutation	6	67	1	0	4.096e-09	1	6.59234e-09	6	67				
LRFN5	145581	broad.mit.edu	37	14	42360920	42360920	+	Nonsense_Mutation	SNP	C	C	A	rs143897378		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:42360920C>A	ENST00000298119.4	+	4	3042	c.1853C>A	c.(1852-1854)tCg>tAg	p.S618*	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	618						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)		GAAACTTGTTCGAGTCAGGAC	0.488										HNSCC(30;0.082)																												ENST00000298119.4																			0				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						c.(1852-1854)tCg>tAg		leucine rich repeat and fibronectin type III domain containing 5							144.0	115.0	125.0					14																	42360920		2203	4300	6503	SO:0001587	stop_gained	145581					integral to membrane		g.chr14:42360920C>A	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.1853C>A	14.37:g.42360920C>A	ENSP00000298119:p.Ser618*	HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.S618*	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3042	+			618					B3KU78|Q86XL2	Nonsense_Mutation	SNP	ENST00000298119.4	37	c.1853C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	47	13.851516	0.99766	.	.	ENSG00000165379	ENST00000298119	.	.	.	5.69	3.88	0.44766	.	0.422418	0.20143	N	0.098334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2036	0.43099	0.0:0.839:0.0:0.161	.	.	.	.	X	618	.	ENSP00000298119:S618X	S	+	2	0	LRFN5	41430670	0.999000	0.42202	0.817000	0.32601	0.988000	0.76386	2.840000	0.48215	0.778000	0.33520	-0.145000	0.13849	TCG		0.488	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		3	28	1	0	0.004672	1	0.00531382	3	28				
SRPK2	6733	broad.mit.edu	37	7	104783613	104783613	+	Missense_Mutation	SNP	C	C	A	rs372166705		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:104783613C>A	ENST00000393651.3	-	10	1065	c.978G>T	c.(976-978)caG>caT	p.Q326H	SRPK2_ENST00000489828.1_Missense_Mutation_p.Q315H|SRPK2_ENST00000357311.3_Missense_Mutation_p.Q315H	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.Q315H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTCGCCATCCTGGTCATTGG	0.488																																						ENST00000357311.3																			1	Substitution - Missense(1)	p.Q315H(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(943-945)caG>caT		SRSF protein kinase 2							138.0	125.0	129.0					7																	104783613		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104783613C>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.978G>T	7.37:g.104783613C>A	ENSP00000377262:p.Gln326His					SRPK2_ENST00000489828.1_Missense_Mutation_p.Q315H|SRPK2_ENST00000393651.3_Missense_Mutation_p.Q326H	p.Q315H	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			9	1116	-			315			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.945G>T	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541523	0.65085	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.22134	1.97;1.97;1.97	5.68	-3.08	0.05347	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.376195	0.27966	N	0.017138	T	0.30510	0.0767	L	0.38175	1.15	0.51482	D	0.999921	D;D	0.60575	0.988;0.98	D;D	0.74674	0.984;0.948	T	0.01301	-1.1391	10	0.52906	T	0.07	-19.1206	14.1006	0.65051	0.0:0.5983:0.0:0.4017	.	326;315	P78362-2;P78362	.;SRPK2_HUMAN	H	326;315;315	ENSP00000377262:Q326H;ENSP00000349863:Q315H;ENSP00000419791:Q315H	ENSP00000349863:Q315H	Q	-	3	2	SRPK2	104570849	0.063000	0.20901	0.867000	0.34043	0.857000	0.48899	-0.901000	0.04093	-0.497000	0.06641	0.555000	0.69702	CAG		0.488	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		6	81	1	0	8.12818e-05	1	0.000104036	6	81				
MRPL20	55052	broad.mit.edu	37	1	1341264	1341264	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:1341264G>C	ENST00000344843.7	-	3	296	c.201C>G	c.(199-201)ctC>ctG	p.L67L	MRPL20_ENST00000482352.1_Silent_p.L67L|RN7SL657P_ENST00000582431.1_RNA|MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	67					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GATTAATCCAGAGCTGAAATA	0.378																																						ENST00000482352.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(199-201)ctC>ctG		mitochondrial ribosomal protein L20							128.0	128.0	128.0					1																	1341264		2203	4300	6503	SO:0001819	synonymous_variant	55052						protein binding|rRNA binding	g.chr1:1341264G>C	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.201C>G	1.37:g.1341264G>C						MRPL20_ENST00000493287.1_5'UTR|MRPL20_ENST00000344843.7_Silent_p.L67L	p.L67L			Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	273	-	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)	67					B2RE41|B7Z746	Silent	SNP	ENST00000344843.7	37	c.201C>G	CCDS26.1																																																																																				0.378	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		4	59	0	0	0	1	0	4	59				
ACSM1	116285	broad.mit.edu	37	16	20693763	20693763	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:20693763G>A	ENST00000307493.4	-	3	493	c.426C>T	c.(424-426)acC>acT	p.T142T	ACSM1_ENST00000520010.1_Silent_p.T142T|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	142					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCAACAGGATGGTCGCAGGAA	0.468																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(424-426)acC>acT		acyl-CoA synthetase medium-chain family member 1							83.0	71.0	75.0					16																	20693763		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20693763G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.426C>T	16.37:g.20693763G>A						ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.T142T	p.T142T	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			3	493	-			142					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.426C>T	CCDS10587.1																																																																																				0.468	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		3	24	0	0	0	1	0	3	24				
PKHD1	5314	broad.mit.edu	37	6	51949723	51949723	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:51949723G>T	ENST00000371117.3	-	2	284	c.9C>A	c.(7-9)gcC>gcA	p.A3A	PKHD1_ENST00000340994.4_Silent_p.A3A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGATCAGCCAGGCAGTCATTC	0.363																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7-9)gcC>gcA		polycystic kidney and hepatic disease 1 (autosomal recessive)							135.0	137.0	136.0					6																	51949723		2203	4299	6502	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51949723G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9C>A	6.37:g.51949723G>T						PKHD1_ENST00000340994.4_Silent_p.A3A	p.A3A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			2	284	-	Lung NSC(77;0.0605)		3					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.9C>A	CCDS4935.1																																																																																				0.363	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	52	1	0	1.6384e-10	1	2.70807e-10	7	52				
LRRC6	23639	broad.mit.edu	37	8	133584730	133584730	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133584730T>A	ENST00000519595.1	-	12	1325		c.e12-2		LRRC6_ENST00000250173.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site			Q86X45	TILB_HUMAN	leucine rich repeat containing 6						cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCTTGCTTCTATAACAACAA	0.373																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.e12-2		leucine rich repeat containing 6							151.0	141.0	145.0					8																	133584730		2203	4300	6503	SO:0001630	splice_region_variant	23639					cytoplasm		g.chr8:133584730T>A	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1227-2A>T	8.37:g.133584730T>A						LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site				Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1325	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)							Q13648|Q4G183	Splice_Site	SNP	ENST00000519595.1	37			.	.	.	.	.	.	.	.	.	.	T	14.42	2.530541	0.45073	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000250173	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2854	0.54789	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC6	133653912	0.983000	0.35010	0.689000	0.30133	0.487000	0.33371	4.660000	0.61511	2.224000	0.72417	0.533000	0.62120	.		0.373	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472	Intron	17	58	0	0	0	1	0	17	58				
NRXN1	9378	broad.mit.edu	37	2	50765424	50765424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:50765424C>A	ENST00000406316.2	-	10	3586	c.2110G>T	c.(2110-2112)Gga>Tga	p.G704*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.G744*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	704	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGCCTGTTCCGGAACAATCA	0.463																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2230-2232)Gga>Tga		neurexin 1							144.0	143.0	143.0					2																	50765424		2006	4177	6183	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765424C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2110G>T	2.37:g.50765424C>A	ENSP00000384311:p.Gly704*					NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G704*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G704*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G696*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G704*	p.G744*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3569	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	704			Laminin G-like 4.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.2230G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	49	15.610563	0.99839	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.7326	0.91741	0.0:1.0:0.0:0.0	.	.	.	.	X	744;704;696;704;745;696;704	.	ENSP00000385017:G704X	G	-	1	0	NRXN1	50618928	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.651000	0.83577	2.649000	0.89929	0.650000	0.86243	GGA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			33	134	1	0	1.06801e-11	1	1.77809e-11	33	134				
PCDHB5	26167	broad.mit.edu	37	5	140515407	140515407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140515407C>G	ENST00000231134.5	+	1	608	c.391C>G	c.(391-393)Cca>Gca	p.P131A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACCATGCCCCAGAGTTCCC	0.453																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(391-393)Cca>Gca									70.0	77.0	75.0					5																	140515407		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515407C>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.391C>G	5.37:g.140515407C>G	ENSP00000231134:p.Pro131Ala						p.P131A	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	608	+			131			Cadherin 1.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.391C>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984501	0.74474	.	.	ENSG00000113209	ENST00000231134	T	0.72282	-0.64	5.37	5.37	0.77165	Cadherin (2);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.91868	0.7426	H	0.99516	4.605	0.51012	D	0.999902	D	0.67145	0.996	D	0.87578	0.998	D	0.95198	0.8314	9	0.87932	D	0	.	19.4598	0.94912	0.0:1.0:0.0:0.0	.	131	Q9Y5E4	PCDB5_HUMAN	A	131	ENSP00000231134:P131A	ENSP00000231134:P131A	P	+	1	0	PCDHB5	140495591	1.000000	0.71417	0.998000	0.56505	0.842000	0.47809	7.669000	0.83911	2.683000	0.91414	0.555000	0.69702	CCA		0.453	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		10	51	0	0	0	1	0	10	51				
C10orf53	282966	broad.mit.edu	37	10	50916407	50916407	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50916407G>T	ENST00000374112.3	+	3	230	c.218G>T	c.(217-219)gGc>gTc	p.G73V	C10orf53_ENST00000535836.1_Splice_Site_p.G73V	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	76										endometrium(1)|lung(6)	7		all_neural(218;0.107)				ttgttctcaggcaagctcacc	0.488																																						ENST00000374112.3																			0				endometrium(1)|lung(6)	7						c.e3-1		chromosome 10 open reading frame 53							85.0	74.0	78.0					10																	50916407		2203	4300	6503	SO:0001630	splice_region_variant	282966							g.chr10:50916407G>T	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.218-1G>T	10.37:g.50916407G>T						C10orf53_ENST00000535836.1_Splice_Site_p.G73_splice	p.G73_splice	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN			3	230	+		all_neural(218;0.107)	76					A6NI81|A6NLE0|B9ZVK6	Splice_Site	SNP	ENST00000374112.3	37	c.217_splice	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690773	0.29962	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	2.13	1.12	0.20585	.	0.000000	0.53938	U	0.000051	T	0.53206	0.1782	M	0.71581	2.175	0.23776	N	0.996875	D	0.71674	0.998	D	0.69654	0.965	T	0.37291	-0.9712	8	.	.	.	.	4.1626	0.10291	0.2368:0.0:0.7632:0.0	.	73	B9ZVK6	.	V	73	.	.	G	+	2	0	C10orf53	50586413	0.001000	0.12720	0.007000	0.13788	0.030000	0.12068	0.132000	0.15891	0.394000	0.25230	0.484000	0.47621	GGC		0.488	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	NM_182554	Missense_Mutation	9	59	1	0	0.00621372	1	0.00702387	9	59				
HAO1	54363	broad.mit.edu	37	20	7915269	7915269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:7915269G>A	ENST00000378789.3	-	2	202	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	51	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCATCCTTGGATACAGCTTC	0.383																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(151-153)Cca>Tca		hydroxyacid oxidase (glycolate oxidase) 1							42.0	37.0	39.0					20																	7915269		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7915269G>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.151C>T	20.37:g.7915269G>A	ENSP00000368066:p.Pro51Ser						p.P51S	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			2	202	-			51			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.151C>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033648	0.93575	.	.	ENSG00000101323	ENST00000378789	T	0.39056	1.1	5.93	5.93	0.95920	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.93420	3.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65987	0.94;0.94	T	0.80291	-0.1444	10	0.87932	D	0	-16.4798	19.1123	0.93321	0.0:0.0:1.0:0.0	.	51;51	A8K058;Q9UJM8	.;HAOX1_HUMAN	S	51	ENSP00000368066:P51S	ENSP00000368066:P51S	P	-	1	0	HAO1	7863269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.282000	0.89907	2.814000	0.96858	0.655000	0.94253	CCA		0.383	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			7	30	0	0	0	1	0	7	30				
NRXN1	9378	broad.mit.edu	37	2	50280412	50280412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:50280412G>T	ENST00000406316.2	-	20	5511	c.4035C>A	c.(4033-4035)agC>agA	p.S1345R	NRXN1_ENST00000401669.2_Missense_Mutation_p.S1375R|NRXN1_ENST00000404971.1_Missense_Mutation_p.S1415R|NRXN1_ENST00000342183.5_Missense_Mutation_p.S310R|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1345R|NRXN1_ENST00000401710.1_Missense_Mutation_p.S363R|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1367R|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1367R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1345					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCTCACCTGGCTAATGGGTT	0.423																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(4243-4245)agC>agA		neurexin 1							98.0	108.0	105.0					2																	50280412		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50280412G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4035C>A	2.37:g.50280412G>T	ENSP00000384311:p.Ser1345Arg					NRXN1_ENST00000401710.1_Missense_Mutation_p.S363R|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1367R|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1345R|NRXN1_ENST00000342183.5_Missense_Mutation_p.S310R|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1375R|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1367R|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1345R	p.S1415R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		22	5584	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1345					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.4245C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	9.878	1.200740	0.22121	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.70164	1.0;2.23;0.26;0.21;-0.46;-0.36;-0.06;0.07	5.08	3.29	0.37713	.	0.308196	0.17729	U	0.163966	T	0.46288	0.1385	N	0.12182	0.205	0.26195	N	0.979521	B;B;B;B	0.18968	0.0;0.013;0.032;0.019	B;B;B;B	0.23275	0.005;0.045;0.038;0.028	T	0.33752	-0.9856	10	0.33940	T	0.23	.	9.1658	0.37050	0.2916:0.0:0.7084:0.0	.	1415;310;1345;1367	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	R	310;264;363;1415;1345;1367;1375;1416;1367;1345	ENSP00000341184:S310R;ENSP00000385580:S363R;ENSP00000385142:S1415R;ENSP00000384311:S1345R;ENSP00000434015:S1367R;ENSP00000385017:S1375R;ENSP00000385434:S1367R;ENSP00000385681:S1345R	ENSP00000341184:S310R	S	-	3	2	NRXN1	50133916	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.815000	0.38981	0.658000	0.30925	-0.143000	0.13931	AGC		0.423	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			10	60	1	0	4.68919e-08	1	7.32885e-08	10	60				
TAF2	6873	broad.mit.edu	37	8	120831748	120831748	+	Splice_Site	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:120831748T>G	ENST00000378164.2	-	3	437		c.e3-2			NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CACAAATCCCTGTAAAGATAG	0.313																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.e3-2		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							78.0	79.0	79.0					8																	120831748		2203	4300	6503	SO:0001630	splice_region_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120831748T>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.139-2A>C	8.37:g.120831748T>G								NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		3	437	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)							B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	ENST00000378164.2	37		CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076701	0.76415	.	.	ENSG00000064313	ENST00000378164	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1998	0.82063	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF2	120900929	1.000000	0.71417	0.993000	0.49108	0.846000	0.48090	7.678000	0.84035	2.232000	0.73038	0.528000	0.53228	.		0.313	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Intron	8	74	0	0	0	1	0	8	74				
GRIA3	2892	broad.mit.edu	37	X	122387312	122387312	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:122387312C>A	ENST00000371251.1	+	3	479	c.427C>A	c.(427-429)Cca>Aca	p.P143T	GRIA3_ENST00000541091.1_Missense_Mutation_p.P127T|GRIA3_ENST00000264357.5_Missense_Mutation_p.P143T|GRIA3_ENST00000542149.1_Missense_Mutation_p.P143T|GRIA3_ENST00000371256.5_Missense_Mutation_p.P143T|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	143					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CCAGATGCGCCCAGCCTTGAA	0.522																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(427-429)Cca>Aca		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						116.0	97.0	103.0					X																	122387312		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122387312C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.427C>A	X.37:g.122387312C>A	ENSP00000360297:p.Pro143Thr					GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.P143T|GRIA3_ENST00000371256.5_Missense_Mutation_p.P143T|GRIA3_ENST00000371251.1_Missense_Mutation_p.P143T|GRIA3_ENST00000541091.1_Missense_Mutation_p.P127T	p.P143T	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			3	719	+			143					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.427C>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870538	0.91587	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.67217	-0.5726	10	0.87932	D	0	.	17.7593	0.88460	0.0:1.0:0.0:0.0	.	127;143;143	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	T	143;143;143;143;127	ENSP00000264357:P143T;ENSP00000446146:P143T;ENSP00000360302:P143T;ENSP00000360297:P143T;ENSP00000446440:P127T	ENSP00000264357:P143T	P	+	1	0	GRIA3	122214993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.499000	0.84300	0.513000	0.50165	CCA		0.522	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		10	33	1	0	4.68919e-08	1	7.32885e-08	10	33				
DNAH3	55567	broad.mit.edu	37	16	21136649	21136649	+	Missense_Mutation	SNP	C	C	A	rs200561107		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:21136649C>A	ENST00000261383.3	-	9	1250	c.1251G>T	c.(1249-1251)gaG>gaT	p.E417D	DNAH3_ENST00000415178.1_Missense_Mutation_p.E417D|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	417	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAATCCAGTGCTCCTTCCGTG	0.502																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1249-1251)gaG>gaT		dynein, axonemal, heavy chain 3							92.0	94.0	93.0					16																	21136649		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21136649C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1251G>T	16.37:g.21136649C>A	ENSP00000261383:p.Glu417Asp					CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E417D	p.E417D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	9	1250	-			417			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1251G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	3.511	-0.099693	0.07010	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22539	1.95;2.12	5.75	-8.02	0.01118	.	2.177190	0.01440	N	0.015045	T	0.10508	0.0257	N	0.20881	0.62	0.09310	N	0.999992	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.19778	-1.0295	10	0.34782	T	0.22	.	1.5861	0.02644	0.2619:0.2584:0.3365:0.1433	.	417;388	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	D	417;417;388	ENSP00000261383:E417D;ENSP00000394245:E417D	ENSP00000261383:E417D	E	-	3	2	DNAH3	21044150	0.000000	0.05858	0.017000	0.16124	0.023000	0.10783	-2.030000	0.01429	-0.801000	0.04427	-0.182000	0.12963	GAG		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	35	1	0	1	1	1	5	35				
PCDHB13	56123	broad.mit.edu	37	5	140595731	140595731	+	Missense_Mutation	SNP	C	C	A	rs376242901		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140595731C>A	ENST00000341948.4	+	1	2223	c.2036C>A	c.(2035-2037)aCc>aAc	p.T679N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	679					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCCCGACCCAGGCCCAG	0.692																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2035-2037)aCc>aAc									69.0	76.0	73.0					5																	140595731		2182	4254	6436	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595731C>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2036C>A	5.37:g.140595731C>A	ENSP00000345491:p.Thr679Asn						p.T679N	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2223	+			679					A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2036C>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	4.593	0.110125	0.08780	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50001	0.76	3.11	-2.75	0.05914	.	.	.	.	.	T	0.19644	0.0472	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	9	0.30854	T	0.27	.	7.542	0.27744	0.3444:0.5572:0.0984:0.0	.	679	Q9Y5F0	PCDBD_HUMAN	N	679;679;625	ENSP00000345491:T679N	ENSP00000345491:T679N	T	+	2	0	PCDHB13	140575915	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.125000	0.15749	-0.861000	0.04094	0.298000	0.19748	ACC		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		14	104	1	0	1.15088e-07	1	1.7657e-07	14	104				
MTERF2	80298	broad.mit.edu	37	12	107371512	107371512	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:107371512T>A	ENST00000552029.1	-	2	3049	c.981A>T	c.(979-981)ccA>ccT	p.P327P	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.P327P|MTERFD3_ENST00000240050.4_Silent_p.P327P			Q49AM1	MTEF2_HUMAN		327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTACTATCTGTGGTGTTAATT	0.368																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(979-981)ccA>ccT		MTERF domain containing 3							213.0	217.0	216.0					12																	107371512		2203	4300	6503	SO:0001819	synonymous_variant	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107371512T>A																												ENST00000552029.1:c.981A>T	12.37:g.107371512T>A						MTERFD3_ENST00000240050.4_Silent_p.P327P|MTERFD3_ENST00000392830.2_Silent_p.P327P|C12orf23_ENST00000551237.1_Intron	p.P327P			Q49AM1	MTER3_HUMAN			2	3049	-			327					Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	c.981A>T	CCDS9111.1																																																																																				0.368	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			16	114	0	0	0	1	0	16	114				
HIST1H2BI	8346	broad.mit.edu	37	6	26273543	26273543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26273543G>A	ENST00000377733.2	+	1	400	c.340G>A	c.(340-342)Gag>Aag	p.E114K	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CGCGGTGTCGGAGGGCACCAA	0.572																																						ENST00000377733.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						c.(340-342)Gag>Aag		histone cluster 1, H2bi							43.0	44.0	44.0					6																	26273543		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273543G>A	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.340G>A	6.37:g.26273543G>A	ENSP00000366962:p.Glu114Lys						p.E114K	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN			1	400	+			114					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.340G>A	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	13.28	2.188685	0.38609	.	.	ENSG00000168242	ENST00000377733	T	0.48201	0.82	4.36	4.36	0.52297	.	0.000000	0.41823	U	0.000809	T	0.54127	0.1839	M	0.78801	2.425	0.33083	D	0.536854	.	.	.	.	.	.	T	0.61163	-0.7118	8	0.52906	T	0.07	.	15.4863	0.75571	0.0:0.0:1.0:0.0	.	.	.	.	K	114	ENSP00000366962:E114K	ENSP00000366962:E114K	E	+	1	0	HIST1H2BI	26381522	1.000000	0.71417	0.993000	0.49108	0.043000	0.13939	7.745000	0.85046	1.975000	0.57531	0.563000	0.77884	GAG		0.572	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		6	53	0	0	0	1	0	6	53				
WBP11P1	441818	broad.mit.edu	37	18	30092734	30092734	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:30092734C>A	ENST00000567636.1	+	0	1109					NR_003558.1				WW domain binding protein 11 pseudogene 1																		TGCAGATATGCCTGGAAAATC	0.473																																						ENST00000567636.1																			0																																																			441818							g.chr18:30092734C>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092734C>A								NR_003558.1						0	1109	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.473	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			5	32	1	0	0.014758	1	0.0159185	5	32				
ASTN1	460	broad.mit.edu	37	1	176863966	176863966	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:176863966C>A	ENST00000367654.3	-	17	2907	c.2696G>T	c.(2695-2697)gGc>gTc	p.G899V	ASTN1_ENST00000361833.2_Splice_Site_p.G891V|ASTN1_ENST00000367657.3_Splice_Site_p.G891V|ASTN1_ENST00000424564.2_Splice_Site_p.G891V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	899					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGGAGTTGCCTGCAGACAC	0.512																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.e17-1		astrotactin 1							83.0	87.0	85.0					1																	176863966		2203	4300	6503	SO:0001630	splice_region_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176863966C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2696-1G>T	1.37:g.176863966C>A						ASTN1_ENST00000361833.2_Splice_Site_p.G891_splice|ASTN1_ENST00000424564.2_Splice_Site_p.G891_splice|ASTN1_ENST00000367657.3_Splice_Site_p.G891_splice	p.G899_splice			O14525	ASTN1_HUMAN			17	2709	-			899					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Splice_Site	SNP	ENST00000367654.3	37	c.2695_splice		.	.	.	.	.	.	.	.	.	.	C	23.8	4.463278	0.84425	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14766	2.48;2.9;2.9;2.49	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00891	-1.1525	10	0.49607	T	0.09	.	18.8334	0.92150	0.0:1.0:0.0:0.0	.	891;891	O14525-2;B1AJS1	.;.	V	891;891;899;891;891	ENSP00000356629:G891V;ENSP00000354536:G891V;ENSP00000356626:G899V;ENSP00000395041:G891V	ENSP00000354536:G891V	G	-	2	0	ASTN1	175130589	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.060000	0.76692	2.640000	0.89533	0.655000	0.94253	GGC		0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	Missense_Mutation	6	50	1	0	0.217242	1	0.220847	6	50				
PREX2	80243	broad.mit.edu	37	8	69046472	69046472	+	Silent	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:69046472T>G	ENST00000288368.4	+	32	4222	c.3945T>G	c.(3943-3945)ggT>ggG	p.G1315G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1315					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGAATGCAGGTGTTCTTTTTC	0.463																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3943-3945)ggT>ggG		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							115.0	98.0	104.0					8																	69046472		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69046472T>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3945T>G	8.37:g.69046472T>G							p.G1315G	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			32	4222	+			1315					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.3945T>G	CCDS6201.1																																																																																				0.463	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		7	45	0	0	0	1	0	7	45				
PARL	55486	broad.mit.edu	37	3	183580544	183580544	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:183580544T>A	ENST00000317096.4	-	4	568	c.508A>T	c.(508-510)Aca>Tca	p.T170S	PARL_ENST00000311101.5_Missense_Mutation_p.T170S|PARL_ENST00000435888.1_Missense_Mutation_p.T170S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	170					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACAAACCTGTCACAGTCCGC	0.403																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(508-510)Aca>Tca		presenilin associated, rhomboid-like							113.0	97.0	103.0					3																	183580544		2203	4300	6503	SO:0001583	missense	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183580544T>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.508A>T	3.37:g.183580544T>A	ENSP00000325421:p.Thr170Ser					PARL_ENST00000311101.5_Missense_Mutation_p.T170S|PARL_ENST00000435888.1_Missense_Mutation_p.T170S	p.T170S	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		4	568	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		170					Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	c.508A>T	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.92|12.92	2.081758|2.081758	0.36758|0.36758	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000449306|ENST00000317096;ENST00000311101;ENST00000435888	.|T;T;T	.|0.11385	.|2.78;2.78;2.78	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.052451	.|0.85682	.|D	.|0.000000	T|T	0.06826|0.06826	0.0174|0.0174	N|N	0.25094|0.25094	0.71|0.71	0.49213|0.49213	D|D	0.999768|0.999768	.|P;B	.|0.36249	.|0.545;0.006	.|B;B	.|0.33521	.|0.165;0.017	T|T	0.44034|0.44034	-0.9354|-0.9354	5|10	.|0.21014	.|T	.|0.42	.|.	8.8916|8.8916	0.35437|0.35437	0.2649:0.0:0.0:0.7351|0.2649:0.0:0.0:0.7351	.|.	.|170;170	.|Q9H300-2;Q9H300	.|.;PARL_HUMAN	V|S	83|170	.|ENSP00000325421:T170S;ENSP00000310676:T170S;ENSP00000402137:T170S	.|ENSP00000310676:T170S	D|T	-|-	2|1	0|0	PARL|PARL	185063238|185063238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.641000|3.641000	0.54360|0.54360	2.173000|2.173000	0.68751|0.68751	0.455000|0.455000	0.32223|0.32223	GAC|ACA		0.403	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		8	44	0	0	0	1	0	8	44				
TSHZ3	57616	broad.mit.edu	37	19	31768095	31768095	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:31768095G>A	ENST00000240587.4	-	2	2931	c.2604C>T	c.(2602-2604)atC>atT	p.I868I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	868					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTTCTCGGAGATGCTGGAAG	0.567																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2602-2604)atC>atT		teashirt zinc finger homeobox 3							91.0	86.0	88.0					19																	31768095		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768095G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2604C>T	19.37:g.31768095G>A							p.I868I	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2931	-	Esophageal squamous(110;0.226)		868					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2604C>T	CCDS12421.2																																																																																				0.567	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		10	54	0	0	0	1	0	10	54				
CFH	3075	broad.mit.edu	37	1	196654239	196654239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:196654239C>A	ENST00000359637.2	+	6	706	c.644C>A	c.(643-645)cCt>cAt	p.P215H	CFH_ENST00000439155.2_Missense_Mutation_p.P279H|CFH_ENST00000367429.4_Missense_Mutation_p.P279H			P08603	CFAH_HUMAN	complement factor H	279	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GACTACTCACCTTTAAGGATT	0.338																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(835-837)cCt>cAt		complement factor H							98.0	93.0	95.0					1																	196654239		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196654239C>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.644C>A	1.37:g.196654239C>A	ENSP00000352658:p.Pro215His					CFH_ENST00000439155.2_Missense_Mutation_p.P279H|CFH_ENST00000359637.2_Missense_Mutation_p.P215H	p.P279H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			7	1076	+			279			Sushi 5.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.836C>A		.	.	.	.	.	.	.	.	.	.	C	18.50	3.637320	0.67130	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64803	-0.12;-0.12;-0.12	5.11	4.19	0.49359	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.72740	0.3498	M	0.67953	2.075	0.09310	N	1	D;D;D;P	0.89917	0.993;1.0;1.0;0.86	D;D;D;B	0.87578	0.981;0.99;0.998;0.303	T	0.60796	-0.7192	9	0.15066	T	0.55	.	9.9019	0.41353	0.0:0.9019:0.0:0.0981	.	215;279;279;279	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	279;279;279;215	ENSP00000356399:P279H;ENSP00000402656:P279H;ENSP00000352658:P215H	ENSP00000352658:P215H	P	+	2	0	CFH	194920862	0.021000	0.18746	0.413000	0.26509	0.502000	0.33828	1.706000	0.37878	2.360000	0.80028	0.585000	0.79938	CCT		0.338	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		4	61	1	0	0.150653	1	0.155562	4	61				
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7578455C>G	ENST00000269305.4	-	5	664	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000420246.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)	ATGGCCATGGCGCGGACGCGG	0.627		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)	ENST00000420246.2		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"""		85	Substitution - Missense(34)|Deletion - Frameshift(18)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - In frame(1)	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(20)|central_nervous_system(18)|oesophagus(8)|liver(6)|stomach(5)|breast(5)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)|thyroid(1)|soft_tissue(1)|pancreas(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						c.(475-477)Gcc>Ccc	Other conserved DNA damage response genes	tumor protein p53							50.0	51.0	50.0					17																	7578455		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578455C>G	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.475G>C	17.37:g.7578455C>G	ENSP00000269305:p.Ala159Pro	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_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P	p.A159P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	607	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.475G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209010	0.58343	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.59	2.4	0.29515	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99816	0.9919	M	0.89840	3.065	0.51767	D	0.999938	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.997;0.995;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.986;0.995;0.997;0.996;0.987;0.998	D	0.98681	1.0692	10	0.87932	D	0	-9.0177	6.1221	0.20159	0.0:0.6615:0.1535:0.185	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159P;ENSP00000352610:A159P;ENSP00000269305:A159P;ENSP00000398846:A159P;ENSP00000391127:A159P;ENSP00000391478:A159P;ENSP00000425104:A27P;ENSP00000423862:A66P;ENSP00000424104:A159P	ENSP00000269305:A159P	A	-	1	0	TP53	7519180	1.000000	0.71417	0.149000	0.22428	0.179000	0.23085	4.930000	0.63462	0.333000	0.23563	0.655000	0.94253	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	27	0	0	0	1	0	7	27				
PTPRM	5797	broad.mit.edu	37	18	8394532	8394532	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:8394532C>A	ENST00000332175.8	+	30	5265	c.4228C>A	c.(4228-4230)Cgg>Agg	p.R1410R	PTPRM_ENST00000400053.4_Silent_p.R1348R|PTPRM_ENST00000400060.4_Silent_p.R1424R|PTPRM_ENST00000580170.1_Silent_p.R1423R|PTPRM_ENST00000444013.1_Silent_p.R1197R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1410	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAGATGCTCCGGCACCAGAG	0.557																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4228-4230)Cgg>Agg		protein tyrosine phosphatase, receptor type, M							82.0	62.0	68.0					18																	8394532		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8394532C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4228C>A	18.37:g.8394532C>A						PTPRM_ENST00000580170.1_Silent_p.R1423R|PTPRM_ENST00000400053.4_Silent_p.R1348R|PTPRM_ENST00000400060.4_Silent_p.R1424R|PTPRM_ENST00000444013.1_Silent_p.R1197R	p.R1410R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			30	5265	+		Colorectal(10;0.234)	1410			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.4228C>A	CCDS11840.1																																																																																				0.557	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			5	27	1	0	3.59834e-05	1	4.79257e-05	5	27				
GNG13	51764	broad.mit.edu	37	16	848821	848821	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:848821C>T	ENST00000248150.4	-	3	203	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	34					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|sensory perception of taste (GO:0050909)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			ovary(1)	1		Hepatocellular(780;0.00335)				TCCACTTCAGCAGCCTGCGGG	0.637																																						ENST00000248150.4																			0				ovary(1)	1						c.(100-102)ctG>ctA		guanine nucleotide binding protein (G protein), gamma 13							77.0	80.0	79.0					16																	848821		2200	4299	6499	SO:0001819	synonymous_variant	51764				cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity	g.chr16:848821C>T	AB030207	CCDS10427.1	16p13.3	2008-08-01			ENSG00000127588	ENSG00000127588			14131	protein-coding gene	gene with protein product	"""G gamma subunit, clone:h2-35"""	607298				10570481	Standard	NM_016541		Approved	h2-35, G(gamma)13	uc002ckh.4	Q9P2W3	OTTHUMG00000047839	ENST00000248150.4:c.102G>A	16.37:g.848821C>T							p.L34L	NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN			3	203	-		Hepatocellular(780;0.00335)	34					B2R5C8|Q52LX0|Q9UJJ3	Silent	SNP	ENST00000248150.4	37	c.102G>A	CCDS10427.1																																																																																				0.637	GNG13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109062.3	NM_016541		9	53	0	0	0	1	0	9	53				
PRICKLE1	144165	broad.mit.edu	37	12	42853666	42853666	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:42853666G>T	ENST00000455697.1	-	8	2726	c.2441C>A	c.(2440-2442)aCa>aAa	p.T814K	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.T814K|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.T814K|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.T814K|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.T814K|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	814					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGATTTTGTTGTCCTCTGACC	0.428																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2440-2442)aCa>aAa		prickle homolog 1 (Drosophila)							176.0	170.0	172.0					12																	42853666		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853666G>T	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2441C>A	12.37:g.42853666G>T	ENSP00000401060:p.Thr814Lys					PRICKLE1_ENST00000445766.2_Missense_Mutation_p.T814K|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.T814K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.T814K|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.T814K	p.T814K	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2726	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		814					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.2441C>A	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054987	0.36277	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.57	4.68	0.58851	.	0.045591	0.85682	D	0.000000	T	0.66117	0.2757	M	0.65975	2.015	0.47441	D	0.999428	D	0.76494	0.999	P	0.60789	0.879	T	0.66602	-0.5882	10	0.02654	T	1	-9.2893	14.7629	0.69619	0.0698:0.0:0.9302:0.0	.	814	Q96MT3	PRIC1_HUMAN	K	814	ENSP00000401060:T814K;ENSP00000398947:T814K;ENSP00000448359:T814K;ENSP00000345064:T814K;ENSP00000449819:T814K	ENSP00000345064:T814K	T	-	2	0	PRICKLE1	41139933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.457000	0.80775	1.484000	0.48361	0.655000	0.94253	ACA		0.428	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			11	87	1	0	1.58986e-06	1	2.32287e-06	11	87				
MTUS1	57509	broad.mit.edu	37	8	17612165	17612165	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:17612165C>G	ENST00000262102.6	-	2	1376	c.1152G>C	c.(1150-1152)aaG>aaC	p.K384N	MTUS1_ENST00000381862.3_Missense_Mutation_p.K384N|MTUS1_ENST00000381869.3_Missense_Mutation_p.K384N|MTUS1_ENST00000519263.1_Missense_Mutation_p.K384N	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	384					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCCCAAATCCTTTCCTTTGG	0.448																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1150-1152)aaG>aaC		microtubule associated tumor suppressor 1							104.0	95.0	98.0					8																	17612165		1854	4095	5949	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17612165C>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1152G>C	8.37:g.17612165C>G	ENSP00000262102:p.Lys384Asn					MTUS1_ENST00000262102.6_Missense_Mutation_p.K384N|MTUS1_ENST00000519263.1_Missense_Mutation_p.K384N|MTUS1_ENST00000381862.3_Missense_Mutation_p.K384N	p.K384N	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1625	-			384					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.1152G>C	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	3.287	-0.145761	0.06627	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.18657	3.18;3.26;3.18;2.2	4.71	2.7	0.31948	.	0.751123	0.12626	N	0.452607	T	0.10594	0.0259	N	0.11560	0.145	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.29822	-0.9999	10	0.16420	T	0.52	-4.953	10.2622	0.43434	0.5106:0.4894:0.0:0.0	.	384;384;384	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	N	384	ENSP00000371293:K384N;ENSP00000262102:K384N;ENSP00000430167:K384N;ENSP00000371286:K384N	ENSP00000262102:K384N	K	-	3	2	MTUS1	17656445	0.000000	0.05858	0.052000	0.19188	0.055000	0.15305	0.153000	0.16323	1.298000	0.44778	0.561000	0.74099	AAG		0.448	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		8	36	0	0	0	1	0	8	36				
CHEK2P2	646096	broad.mit.edu	37	15	20495386	20495386	+	RNA	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:20495386G>C	ENST00000555186.1	+	0	589					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TGAAGAGAAAGTTTCAAGATC	0.418																																						ENST00000555186.1																			0																																																			646096							g.chr15:20495386G>C			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20495386G>C								NR_038836.1						0	589	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.418	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		5	74	0	0	0	1	0	5	74				
CDH8	1006	broad.mit.edu	37	16	61851570	61851570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:61851570G>A	ENST00000577390.1	-	7	2044	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	CDH8_ENST00000577730.1_Missense_Mutation_p.P364S|CDH8_ENST00000299345.6_Missense_Mutation_p.P364S|CDH8_ENST00000584337.1_Missense_Mutation_p.P364S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	364	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTGAAGCGTGGGTCAATATGG	0.473																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1090-1092)Cca>Tca		cadherin 8, type 2							84.0	64.0	71.0					16																	61851570		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851570G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1090C>T	16.37:g.61851570G>A	ENSP00000462701:p.Pro364Ser					CDH8_ENST00000299345.6_Missense_Mutation_p.P364S|CDH8_ENST00000584337.1_Missense_Mutation_p.P364S|CDH8_ENST00000577730.1_Missense_Mutation_p.P364S	p.P364S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	2044	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	364			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1090C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114407	0.56505	.	.	ENSG00000150394	ENST00000299345	T	0.37584	1.19	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.147897	0.64402	D	0.000005	T	0.41143	0.1146	L	0.42245	1.32	0.58432	D	0.999997	P;B	0.38420	0.63;0.067	B;B	0.42692	0.395;0.046	T	0.04307	-1.0961	10	0.33141	T	0.24	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	180;364	Q3LID3;P55286	.;CADH8_HUMAN	S	364	ENSP00000299345:P364S	ENSP00000299345:P364S	P	-	1	0	CDH8	60409071	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.573000	0.82421	2.832000	0.97577	0.655000	0.94253	CCA		0.473	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	34	0	0	0	1	0	8	34				
NKG7	4818	broad.mit.edu	37	19	51875749	51875749	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:51875749A>G	ENST00000221978.5	-	1	220	c.41T>C	c.(40-42)cTg>cCg	p.L14P	NKG7_ENST00000595217.1_Missense_Mutation_p.L14P|NKG7_ENST00000600427.1_Missense_Mutation_p.L14P	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	14						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CATCAGGCCCAGGGAGCCCCC	0.617																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(40-42)cTg>cCg		natural killer cell group 7 sequence							48.0	52.0	51.0					19																	51875749		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875749A>G		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.41T>C	19.37:g.51875749A>G	ENSP00000221978:p.Leu14Pro					NKG7_ENST00000595217.1_Missense_Mutation_p.L14P|NKG7_ENST00000600427.1_Missense_Mutation_p.L14P	p.L14P	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	220	-		all_neural(266;0.0199)	14						Missense_Mutation	SNP	ENST00000221978.5	37	c.41T>C	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459819	0.43736	.	.	ENSG00000105374	ENST00000221978	D	0.89939	-2.59	4.98	4.98	0.66077	.	0.000000	0.34777	N	0.003694	D	0.92854	0.7727	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93232	0.6618	10	0.87932	D	0	-1.1759	10.9755	0.47463	1.0:0.0:0.0:0.0	.	14	Q16617	NKG7_HUMAN	P	14	ENSP00000221978:L14P	ENSP00000221978:L14P	L	-	2	0	NKG7	56567561	0.998000	0.40836	0.989000	0.46669	0.076000	0.17211	2.813000	0.48002	2.105000	0.64084	0.459000	0.35465	CTG		0.617	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		6	40	0	0	0	1	0	6	40				
PCNX	22990	broad.mit.edu	37	14	71542912	71542912	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:71542912A>G	ENST00000304743.2	+	28	5559	c.5113A>G	c.(5113-5115)Att>Gtt	p.I1705V	PCNX_ENST00000238570.5_Missense_Mutation_p.I1633V|PCNX_ENST00000439984.3_Missense_Mutation_p.I1594V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1705						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTAGGGTATCATTTATTATGT	0.328																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(5113-5115)Att>Gtt		pecanex homolog (Drosophila)							91.0	86.0	87.0					14																	71542912		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71542912A>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5113A>G	14.37:g.71542912A>G	ENSP00000304192:p.Ile1705Val					PCNX_ENST00000238570.5_Missense_Mutation_p.I1633V|PCNX_ENST00000439984.3_Missense_Mutation_p.I1594V	p.I1705V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	28	5559	+			1705					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5113A>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635183	0.67130	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.16196	2.66;2.79;2.36	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.79475	2.455	0.28826	N	0.897432	P;D;P	0.54964	0.876;0.969;0.913	D;P;P	0.64595	0.927;0.824;0.891	T	0.37798	-0.9690	10	0.62326	D	0.03	.	15.3621	0.74487	1.0:0.0:0.0:0.0	.	1633;1594;1705	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	V	1705;1633;1594	ENSP00000304192:I1705V;ENSP00000238570:I1633V;ENSP00000396617:I1594V	ENSP00000238570:I1633V	I	+	1	0	PCNX	70612665	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.709000	0.91379	2.281000	0.76405	0.533000	0.62120	ATT		0.328	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	42	0	0	0	1	0	4	42				
DAAM2	23500	broad.mit.edu	37	6	39869653	39869653	+	Nonsense_Mutation	SNP	C	C	A	rs201932748		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:39869653C>A	ENST00000398904.2	+	25	3229	c.3047C>A	c.(3046-3048)tCg>tAg	p.S1016*	DAAM2_ENST00000538976.1_Nonsense_Mutation_p.S1015*|DAAM2_ENST00000274867.4_Nonsense_Mutation_p.S1016*|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1016	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCAGGCAGCTCGCTGGAGGAG	0.647																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(3043-3045)tCg>tAg		dishevelled associated activator of morphogenesis 2							28.0	37.0	34.0					6																	39869653		2102	4226	6328	SO:0001587	stop_gained	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39869653C>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.3047C>A	6.37:g.39869653C>A	ENSP00000381876:p.Ser1016*					DAAM2_ENST00000274867.4_Nonsense_Mutation_p.S1016*|DAAM2_ENST00000398904.2_Nonsense_Mutation_p.S1016*	p.S1015*	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			25	3226	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		1016					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Nonsense_Mutation	SNP	ENST00000398904.2	37	c.3044C>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	41	8.625392	0.98890	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	.	.	.	5.64	4.77	0.60923	.	1.052410	0.07329	N	0.878858	.	.	.	.	.	.	0.23594	N	0.997331	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	8.992	0.36030	0.0:0.8303:0.0:0.1697	.	.	.	.	X	1016;1016;1015	.	ENSP00000274867:S1016X	S	+	2	0	DAAM2	39977631	0.371000	0.25056	0.728000	0.30774	0.836000	0.47400	4.912000	0.63335	2.655000	0.90218	0.655000	0.94253	TCG		0.647	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			4	20	1	0	0.00024832	1	0.000309642	4	20				
RAPH1	65059	broad.mit.edu	37	2	204354463	204354463	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:204354463T>A	ENST00000319170.5	-	4	875	c.576A>T	c.(574-576)tcA>tcT	p.S192S	RAPH1_ENST00000439222.1_Silent_p.S192S|RAPH1_ENST00000374488.2_Silent_p.S192S|RAPH1_ENST00000423104.1_Silent_p.S192S|RAPH1_ENST00000453034.1_Silent_p.S192S|RAPH1_ENST00000418114.1_Silent_p.S192S|RAPH1_ENST00000374489.2_Silent_p.S192S|RAPH1_ENST00000374493.3_Silent_p.S192S|RAPH1_ENST00000457812.1_Silent_p.S192S|RAPH1_ENST00000419464.1_Silent_p.S192S|RAPH1_ENST00000308091.4_Silent_p.S192S	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	192					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGTGCCTGCTGACGCGGTTC	0.453																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(574-576)tcA>tcT		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							131.0	122.0	125.0					2																	204354463		2203	4300	6503	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204354463T>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.576A>T	2.37:g.204354463T>A						RAPH1_ENST00000423104.1_Silent_p.S192S|RAPH1_ENST00000457812.1_Silent_p.S192S|RAPH1_ENST00000374489.2_Silent_p.S192S|RAPH1_ENST00000453034.1_Silent_p.S192S|RAPH1_ENST00000419464.1_Silent_p.S192S|RAPH1_ENST00000374488.2_Silent_p.S192S|RAPH1_ENST00000439222.1_Silent_p.S192S|RAPH1_ENST00000374493.3_Silent_p.S192S|RAPH1_ENST00000308091.4_Silent_p.S192S|RAPH1_ENST00000418114.1_Silent_p.S192S	p.S192S	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			4	875	-			192					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.576A>T	CCDS2359.1																																																																																				0.453	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		7	71	0	0	0	1	0	7	71				
DNAH9	1770	broad.mit.edu	37	17	11865334	11865334	+	Missense_Mutation	SNP	G	G	A	rs370864345		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:11865334G>A	ENST00000262442.4	+	68	13062	c.12994G>A	c.(12994-12996)Gag>Aag	p.E4332K	DNAH9_ENST00000608377.1_Missense_Mutation_p.E644K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4256K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4332					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E4332Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGGAGCTAGAGGCTTGGAC	0.577																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.E4332Q(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12994-12996)Gag>Aag		dynein, axonemal, heavy chain 9							77.0	71.0	73.0					17																	11865334		2203	4300	6503	SO:0001583	missense	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.chr17:11865334G>A	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.12994G>A	17.37:g.11865334G>A	ENSP00000262442:p.Glu4332Lys					DNAH9_ENST00000454412.2_Missense_Mutation_p.E4256K|DNAH9_ENST00000396001.2_Missense_Mutation_p.E644K|RP11-1096G20.5_ENST00000580270.1_RNA	p.E4332K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13062	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4332					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12994G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818042	0.32145	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08546	3.08;3.08;3.08	5.57	5.57	0.84162	Dynein heavy chain (1);	0.109395	0.64402	D	0.000009	T	0.28167	0.0695	L	0.61387	1.9	0.58432	D	0.999998	D	0.63046	0.992	D	0.70487	0.969	T	0.00142	-1.1997	10	0.48119	T	0.1	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	4332	Q9NYC9	DYH9_HUMAN	K	4332;4256;2838;644	ENSP00000262442:E4332K;ENSP00000414874:E4256K;ENSP00000379323:E644K	ENSP00000262442:E4332K	E	+	1	0	DNAH9	11806059	1.000000	0.71417	0.913000	0.36048	0.334000	0.28698	9.420000	0.97426	2.618000	0.88619	0.655000	0.94253	GAG		0.577	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	58	0	0	0	1	0	4	58				
LAIR1	3903	broad.mit.edu	37	19	54872773	54872773	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:54872773C>G	ENST00000391742.2	-	3	266	c.114G>C	c.(112-114)gtG>gtC	p.V38V	LAIR1_ENST00000434277.2_Silent_p.V37V|LAIR1_ENST00000313038.6_Silent_p.V31V|LAIR1_ENST00000474878.1_Silent_p.V37V|LAIR1_ENST00000348231.4_Silent_p.V38V|LAIR1_ENST00000391743.3_Silent_p.V20V|LAIR1_ENST00000463489.1_5'UTR			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCAGGGGGATCACGGTGCCTG	0.582																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(58-60)gtG>gtC		leukocyte-associated immunoglobulin-like receptor 1							100.0	106.0	104.0					19																	54872773		2203	4300	6503	SO:0001819	synonymous_variant	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872773C>G	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.114G>C	19.37:g.54872773C>G						LAIR1_ENST00000313038.6_Silent_p.V31V|LAIR1_ENST00000474878.1_Silent_p.V37V|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Silent_p.V38V|LAIR1_ENST00000434277.2_Silent_p.V37V|LAIR1_ENST00000391742.2_Silent_p.V38V	p.V20V			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	340	-	Ovarian(34;0.19)		38						Silent	SNP	ENST00000391742.2	37	c.60G>C	CCDS12891.1																																																																																				0.582	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			12	94	0	0	0	1	0	12	94				
PROKR2	128674	broad.mit.edu	37	20	5282735	5282735	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:5282735G>T	ENST00000217270.3	-	2	1105	c.1106C>A	c.(1105-1107)aCc>aAc	p.T369N	PROKR2_ENST00000546004.1_Missense_Mutation_p.T369N	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	369					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CACCCCGTTGGTTCTGAGGTC	0.542										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(1105-1107)aCc>aAc		prokineticin receptor 2							150.0	126.0	134.0					20																	5282735		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282735G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1106C>A	20.37:g.5282735G>T	ENSP00000217270:p.Thr369Asn	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.T369N	p.T369N			Q8NFJ6	PKR2_HUMAN			3	1352	-			369					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.1106C>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227730	0.22542	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.71341	-0.56;-0.56	5.2	4.23	0.50019	.	0.053395	0.64402	D	0.000001	T	0.68732	0.3033	M	0.72118	2.19	0.49130	D	0.999755	B	0.10296	0.003	B	0.10450	0.005	T	0.65965	-0.6040	10	0.42905	T	0.14	.	12.692	0.56980	0.0:0.0:0.8339:0.1661	.	369	Q8NFJ6	PKR2_HUMAN	N	369	ENSP00000440790:T369N;ENSP00000217270:T369N	ENSP00000217270:T369N	T	-	2	0	PROKR2	5230735	1.000000	0.71417	0.653000	0.29593	0.017000	0.09413	6.252000	0.72447	1.156000	0.42514	0.655000	0.94253	ACC		0.542	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		7	38	1	0	8.12818e-05	1	0.000104036	7	38				
ASIC3	9311	broad.mit.edu	37	7	150747283	150747283	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:150747283G>A	ENST00000349064.5	+	2	823	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	ASIC3_ENST00000357922.4_Missense_Mutation_p.G209R|ASIC3_ENST00000297512.8_Missense_Mutation_p.G209R	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	209					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CATGGGCAATGGGCTGGACAT	0.582																																						ENST00000357922.4																			0											c.(625-627)Ggg>Agg		acid-sensing (proton-gated) ion channel 3							124.0	100.0	109.0					7																	150747283		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150747283G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.625G>A	7.37:g.150747283G>A	ENSP00000344838:p.Gly209Arg					ASIC3_ENST00000349064.5_Missense_Mutation_p.G209R|ASIC3_ENST00000297512.8_Missense_Mutation_p.G209R	p.G209R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			2	1219	+			209					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.625G>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647631	0.67358	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.72282	-0.64;-0.64;-0.64	4.49	3.6	0.41247	.	0.000000	0.38605	U	0.001633	D	0.85890	0.5802	M	0.90870	3.155	0.49687	D	0.999818	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.99;0.999;1.0	D	0.87940	0.2716	10	0.87932	D	0	-21.4935	11.8728	0.52529	0.0:0.0:0.8238:0.1762	.	209;209;209	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	R	209	ENSP00000350600:G209R;ENSP00000344838:G209R;ENSP00000297512:G209R	ENSP00000297512:G209R	G	+	1	0	ACCN3	150378216	1.000000	0.71417	0.893000	0.35052	0.427000	0.31564	9.811000	0.99226	1.014000	0.39417	0.561000	0.74099	GGG		0.582	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		5	49	0	0	0	1	0	5	49				
CSMD3	114788	broad.mit.edu	37	8	113293531	113293531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:113293531C>T	ENST00000297405.5	-	59	9624	c.9380G>A	c.(9379-9381)cGa>cAa	p.R3127Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3087L(1)|p.R3127L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCATCAATTCGGAAGACTTT	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.R3087L(1)|p.R3127L(1)	endometrium(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9379-9381)cGa>cAa		CUB and Sushi multiple domains 3							115.0	99.0	104.0					8																	113293531		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293531C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9380G>A	8.37:g.113293531C>T	ENSP00000297405:p.Arg3127Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.R2958Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3087Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3057Q	p.R3127Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			59	9624	-			3127			Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9380G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250342	0.80024	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.72	5.72	0.89469	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.66992	0.2846	L	0.31578	0.945	0.50632	D	0.999887	D;D;P	0.62365	0.989;0.991;0.473	P;P;B	0.61397	0.776;0.888;0.119	T	0.59080	-0.7521	10	0.14656	T	0.56	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	2958;3127;3087	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	3087;3127;2397;2958;3057	ENSP00000345799:R3087Q;ENSP00000297405:R3127Q;ENSP00000341558:R2397Q;ENSP00000412263:R2958Q;ENSP00000343124:R3057Q	ENSP00000297405:R3127Q	R	-	2	0	CSMD3	113362707	0.989000	0.36119	1.000000	0.80357	0.883000	0.51084	2.740000	0.47418	2.695000	0.91970	0.650000	0.86243	CGA		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	33	0	0	0	1	0	6	33				
KIDINS220	57498	broad.mit.edu	37	2	8890400	8890400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:8890400C>G	ENST00000256707.3	-	24	3437	c.3256G>C	c.(3256-3258)Gag>Cag	p.E1086Q	KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1044Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1086					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGAGGACCCTCATGTAGAGGG	0.582																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(3256-3258)Gag>Cag		kinase D-interacting substrate, 220kDa							55.0	58.0	57.0					2																	8890400		1962	4134	6096	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8890400C>G	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3256G>C	2.37:g.8890400C>G	ENSP00000256707:p.Glu1086Gln					KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1086Q|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1044Q	p.E1086Q	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			24	3437	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1086					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.3256G>C	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926007	0.34002	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.67698	0.92;-0.28;-0.23;-0.11;-0.23;-0.15	5.79	5.79	0.91817	.	0.264078	0.42821	D	0.000660	T	0.69205	0.3085	L	0.44542	1.39	0.58432	D	0.999998	B;B;P;B;B	0.35527	0.09;0.001;0.507;0.265;0.1	B;B;B;P;B	0.44623	0.068;0.007;0.379;0.455;0.267	T	0.63422	-0.6641	10	0.29301	T	0.29	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	1087;1087;770;1044;1086	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	Q	833;770;1086;1086;1044;1086;1087;95	ENSP00000420364:E833Q;ENSP00000256707:E1086Q;ENSP00000411849:E1086Q;ENSP00000414923:E1044Q;ENSP00000418974:E1086Q;ENSP00000419964:E1087Q	ENSP00000256707:E1086Q	E	-	1	0	KIDINS220	8807851	1.000000	0.71417	0.201000	0.23476	0.010000	0.07245	7.487000	0.81328	2.733000	0.93635	0.655000	0.94253	GAG		0.582	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		5	40	0	0	0	1	0	5	40				
DNAJC12	56521	broad.mit.edu	37	10	69565540	69565540	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:69565540C>A	ENST00000225171.2	-	4	455	c.303G>T	c.(301-303)atG>atT	p.M101I	DNAJC12_ENST00000483798.2_Missense_Mutation_p.M131I|RNU6-1250P_ENST00000391218.1_RNA	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	101										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CAACCCAGTGCATTGACTAAA	0.323																																						ENST00000225171.2																			0				breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						c.(301-303)atG>atT		DnaJ (Hsp40) homolog, subfamily C, member 12							75.0	77.0	77.0					10																	69565540		2203	4300	6503	SO:0001583	missense	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69565540C>A	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"""Heat shock proteins / DNAJ (HSP40)"""	28908	protein-coding gene	gene with protein product	"""J domain protein 1"""	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.303G>T	10.37:g.69565540C>A	ENSP00000225171:p.Met101Ile					DNAJC12_ENST00000483798.2_Missense_Mutation_p.M131I	p.M101I	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN			4	455	-			101					Q5JVQ1|Q9UKB2	Missense_Mutation	SNP	ENST00000225171.2	37	c.303G>T	CCDS7271.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079035	0.55753	.	.	ENSG00000108176	ENST00000225171	T	0.28255	1.62	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.81497	2.545	0.80722	D	1	D	0.53312	0.959	P	0.46144	0.505	T	0.44847	-0.9301	10	0.36615	T	0.2	-16.1585	18.641	0.91396	0.0:1.0:0.0:0.0	.	101	Q9UKB3	DJC12_HUMAN	I	101	ENSP00000225171:M101I	ENSP00000225171:M101I	M	-	3	0	DNAJC12	69235546	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	5.812000	0.69194	2.684000	0.91462	0.650000	0.86243	ATG		0.323	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		6	71	1	0	2.0095e-06	1	2.90366e-06	6	71				
OR5H14	403273	broad.mit.edu	37	3	97868351	97868351	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:97868351G>C	ENST00000437310.1	+	1	182	c.122G>C	c.(121-123)gGg>gCg	p.G41A	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCATCATGGGGAATCTTGGT	0.403																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(121-123)gGg>gCg		olfactory receptor, family 5, subfamily H, member 14							231.0	234.0	233.0					3																	97868351		2203	4298	6501	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868351G>C		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.122G>C	3.37:g.97868351G>C	ENSP00000401706:p.Gly41Ala						p.G41A	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	182	+			41					B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.122G>C	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802121	0.31869	.	.	ENSG00000236032	ENST00000437310	T	0.04234	3.67	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000433	T	0.19167	0.0460	M	0.82517	2.595	0.09310	N	0.999999	D	0.76494	0.999	D	0.69824	0.966	T	0.01175	-1.1428	10	0.54805	T	0.06	.	10.6214	0.45483	0.0:0.0:1.0:0.0	.	41	A6NHG9	O5H14_HUMAN	A	41	ENSP00000401706:G41A	ENSP00000401706:G41A	G	+	2	0	OR5H14	99351041	0.050000	0.20438	0.324000	0.25361	0.455000	0.32408	0.772000	0.26647	1.380000	0.46344	0.195000	0.17529	GGG		0.403	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			17	201	0	0	0	1	0	17	201				
MAML2	84441	broad.mit.edu	37	11	95825981	95825981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:95825981G>A	ENST00000524717.1	-	2	2498	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	405					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGGGACTGAAGGGATTGGAGA	0.627			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1213-1215)cCt>cTt		mastermind-like 2 (Drosophila)							24.0	24.0	24.0					11																	95825981		1994	4160	6154	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825981G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1214C>T	11.37:g.95825981G>A	ENSP00000434552:p.Pro405Leu						p.P405L	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			2	2498	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	405					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.1214C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500235	0.44455	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.50813	0.73;0.73	5.77	5.77	0.91146	.	0.270973	0.32002	N	0.006737	T	0.54078	0.1836	L	0.54323	1.7	0.36736	D	0.881973	P	0.50272	0.933	P	0.46479	0.518	T	0.63287	-0.6671	10	0.72032	D	0.01	-9.7602	19.9883	0.97356	0.0:0.0:1.0:0.0	.	405	Q8IZL2	MAML2_HUMAN	L	405	ENSP00000434552:P405L;ENSP00000412394:P405L	ENSP00000412394:P405L	P	-	2	0	MAML2	95465629	1.000000	0.71417	0.067000	0.19924	0.989000	0.77384	6.573000	0.74009	2.722000	0.93159	0.555000	0.69702	CCT		0.627	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			4	28	0	0	0	1	0	4	28				
CPEB4	80315	broad.mit.edu	37	5	173317390	173317390	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:173317390T>C	ENST00000265085.5	+	1	2108	c.654T>C	c.(652-654)ttT>ttC	p.F218F	CPEB4_ENST00000334035.5_Silent_p.F218F|CPEB4_ENST00000520867.1_Silent_p.F218F|CPEB4_ENST00000519835.1_Silent_p.F218F|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	218					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCTGGCTTTGGAGGCAGCT	0.532																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(652-654)ttT>ttC		cytoplasmic polyadenylation element binding protein 4							101.0	107.0	105.0					5																	173317390		2203	4300	6503	SO:0001819	synonymous_variant	80315						nucleotide binding|RNA binding	g.chr5:173317390T>C	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.654T>C	5.37:g.173317390T>C						CPEB4_ENST00000520867.1_Silent_p.F218F|CPEB4_ENST00000519835.1_Silent_p.F218F|CPEB4_ENST00000334035.5_Silent_p.F218F	p.F218F	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2108	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	218					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	c.654T>C	CCDS4390.1																																																																																				0.532	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		5	66	0	0	0	1	0	5	66				
FGD2	221472	broad.mit.edu	37	6	36981415	36981415	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:36981415C>A	ENST00000274963.8	+	5	729	c.558C>A	c.(556-558)atC>atA	p.I186I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	186	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GTGACGTGATCCAGAAGCTGG	0.587																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(556-558)atC>atA		FYVE, RhoGEF and PH domain containing 2							71.0	68.0	69.0					6																	36981415		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36981415C>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.558C>A	6.37:g.36981415C>A							p.I186I	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			5	729	+			186			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.558C>A	CCDS4829.1																																																																																				0.587	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		4	27	1	0	1	1	1	4	27				
F13B	2165	broad.mit.edu	37	1	197008535	197008535	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197008535C>A	ENST00000367412.1	-	12	2002	c.1959G>T	c.(1957-1959)ctG>ctT	p.L653L	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	653					blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTGATAAGACAGAGTGCTTG	0.313																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1957-1959)ctG>ctT		coagulation factor XIII, B polypeptide							149.0	169.0	162.0					1																	197008535		2203	4296	6499	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197008535C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1959G>T	1.37:g.197008535C>A							p.L653L	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			12	2002	-			653					A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.1959G>T	CCDS1388.1																																																																																				0.313	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		11	86	1	0	3.86212e-05	1	5.09224e-05	11	86				
APOB	338	broad.mit.edu	37	2	21231683	21231683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:21231683C>A	ENST00000233242.1	-	26	8184	c.8057G>T	c.(8056-8058)tGg>tTg	p.W2686L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2686					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.W2686*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAACGGGCCACTGCAGCTC	0.443																																						ENST00000233242.1																			1	Substitution - Nonsense(1)	p.W2686*(1)	lung(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8056-8058)tGg>tTg		apolipoprotein B	Atorvastatin(DB01076)						146.0	152.0	150.0					2																	21231683		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231683C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8057G>T	2.37:g.21231683C>A	ENSP00000233242:p.Trp2686Leu						p.W2686L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8184	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2686					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8057G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249500	0.05867	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00672	5.89	5.22	5.22	0.72569	.	0.151480	0.31554	N	0.007454	T	0.01092	0.0036	L	0.57536	1.79	0.80722	D	1	B	0.25441	0.126	B	0.18871	0.023	T	0.60229	-0.7304	10	0.10902	T	0.67	.	13.6337	0.62210	0.1942:0.8058:0.0:0.0	.	2686	P04114	APOB_HUMAN	L	2686	ENSP00000233242:W2686L	ENSP00000233242:W2686L	W	-	2	0	APOB	21085188	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.853000	0.48317	2.437000	0.82529	0.561000	0.74099	TGG		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	147	1	0	1.58986e-06	1	2.32287e-06	11	147				
PTPRD	5789	broad.mit.edu	37	9	8633371	8633371	+	Missense_Mutation	SNP	C	C	A	rs200499691		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:8633371C>A	ENST00000381196.4	-	11	841	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	PTPRD_ENST00000397611.3_Missense_Mutation_p.A100S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A100S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A100S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100S|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	100	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTATTTGAGGCCACACATTCA	0.433										TSP Lung(15;0.13)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		19396	0.0		0.0	False		,,,				2504	0.0					ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(298-300)Gcc>Tcc		protein tyrosine phosphatase, receptor type, D							188.0	154.0	165.0					9																	8633371		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633371C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.298G>T	9.37:g.8633371C>A	ENSP00000370593:p.Ala100Ser	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.A100S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A100S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100S|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A100S	p.A100S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	11	841	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	100			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.298G>T	CCDS43786.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.754405	0.96890	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.05	6.05	0.98169	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D;D;D;D;P;D	0.71674	0.986;0.993;0.993;0.997;0.997;0.993;0.991;0.992;0.937;0.998	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.998;0.997;0.998;0.998;0.987;0.997;0.981;0.981;1.0	D	0.90663	0.4592	9	.	.	.	.	20.599	0.99451	0.0:1.0:0.0:0.0	.	100;100;100;100;100;100;100;100;100;100	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	100	ENSP00000370593:A100S;ENSP00000348812:A100S;ENSP00000353187:A100S;ENSP00000351293:A100S;ENSP00000347373:A100S;ENSP00000380741:A100S;ENSP00000380735:A100S;ENSP00000440515:A100S;ENSP00000438164:A100S;ENSP00000417093:A100S;ENSP00000380731:A100S;ENSP00000417661:A100S	.	A	-	1	0	PTPRD	8623371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.871000	0.98454	0.637000	0.83480	GCC		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	65	1	0	0.00116845	1	0.00137844	6	65				
TRA2A	29896	broad.mit.edu	37	7	23556039	23556039	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:23556039C>G	ENST00000297071.4	-	3	495	c.279G>C	c.(277-279)cgG>cgC	p.R93R	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	93	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GGCTCCTTCGCCGCCGGTATT	0.448																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(277-279)cgG>cgC		transformer 2 alpha homolog (Drosophila)							83.0	72.0	76.0					7																	23556039		2203	4300	6503	SO:0001819	synonymous_variant	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23556039C>G	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.279G>C	7.37:g.23556039C>G						TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	p.R93R	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			3	495	-			93			Arg/Ser-rich (RS1 domain).		B4DUA9	Silent	SNP	ENST00000297071.4	37	c.279G>C	CCDS5383.1																																																																																				0.448	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		4	37	0	0	0	1	0	4	37				
DNAH8	1769	broad.mit.edu	37	6	38980088	38980088	+	Missense_Mutation	SNP	G	G	A	rs202160082		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:38980088G>A	ENST00000359357.3	+	88	13072	c.12818G>A	c.(12817-12819)cGc>cAc	p.R4273H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4237H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4273					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAATACTCCGCAGTAGCCTG	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20956	0.0		0.0	False		,,,				2504	0.0					ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(12817-12819)cGc>cAc		dynein, axonemal, heavy chain 8		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	163.0	150.0	154.0		13469	6.2	0.9	6		154	0,8600		0,0,4300	no	missense	DNAH8	NM_001206927.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	4490/4708	38980088	1,13005	2203	4300	6503	SO:0001583	missense	1769							g.chr6:38980088G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12818G>A	6.37:g.38980088G>A	ENSP00000352312:p.Arg4273His					DNAH8_ENST00000441566.1_Missense_Mutation_p.R4237H	p.R4273H							88	13072	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12818G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.7	4.857851	0.91433	2.27E-4	0.0	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.10288	2.89;2.89;2.89	6.16	6.16	0.99307	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00136	-1.2005	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	4273	Q96JB1	DYH8_HUMAN	H	4478;4273;4237	ENSP00000333363:R4478H;ENSP00000352312:R4273H;ENSP00000402294:R4237H	ENSP00000333363:R4478H	R	+	2	0	DNAH8	39088066	1.000000	0.71417	0.870000	0.34147	0.964000	0.63967	9.711000	0.98735	2.937000	0.99478	0.650000	0.86243	CGC		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	55	0	0	0	1	0	5	55				
SH3BP2	6452	broad.mit.edu	37	4	2822453	2822453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:2822453G>T	ENST00000356331.5	+	2	370	c.109G>T	c.(109-111)Ggc>Tgc	p.G37C	SH3BP2_ENST00000503393.2_Missense_Mutation_p.G94C|SH3BP2_ENST00000389838.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G37C|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G65C	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	37	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCACAAGAAGGGCGGTACCCA	0.592									Cherubism																													ENST00000442312.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(193-195)Ggc>Tgc		SH3-domain binding protein 2							55.0	54.0	54.0					4																	2822453		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2822453G>T	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.109G>T	4.37:g.2822453G>T	ENSP00000348685:p.Gly37Cys					SH3BP2_ENST00000452765.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000356331.5_Missense_Mutation_p.G37C|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000389838.2_Missense_Mutation_p.G37C|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G37C|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G94C	p.G65C	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	2	372	+			37			PH.		A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.193G>T	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259416	0.80246	.	.	ENSG00000087266	ENST00000452765;ENST00000389838;ENST00000503219;ENST00000504294;ENST00000508385;ENST00000512014;ENST00000513095;ENST00000442312;ENST00000502260;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	T;T;T;T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.14	4.29	0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.80847	2.515	0.53688	D	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.995;0.995	T	0.44847	-0.9301	10	0.72032	D	0.01	-23.0466	13.6789	0.62472	0.0778:0.0:0.9222:0.0	.	65;65;94;37	B4DT04;B7Z9B6;D6R919;P78314	.;.;.;3BP2_HUMAN	C	37;37;37;37;37;37;37;65;37;37;37;94;37	ENSP00000409746:G37C;ENSP00000374488:G37C;ENSP00000422796:G37C;ENSP00000423275:G37C;ENSP00000424917:G37C;ENSP00000424105:G37C;ENSP00000423823:G37C;ENSP00000388152:G65C;ENSP00000425537:G37C;ENSP00000403231:G37C;ENSP00000424846:G37C;ENSP00000422168:G94C;ENSP00000348685:G37C	ENSP00000348685:G37C	G	+	1	0	SH3BP2	2792251	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.012000	0.76366	2.408000	0.81797	0.491000	0.48974	GGC		0.592	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		8	25	1	0	1.06961e-07	1	1.64929e-07	8	25				
PKHD1	5314	broad.mit.edu	37	6	51900390	51900390	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:51900390C>A	ENST00000371117.3	-	28	3502	c.3227G>T	c.(3226-3228)aGg>aTg	p.R1076M	PKHD1_ENST00000340994.4_Splice_Site_p.R1076M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1076	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCACTTACCCTGGGTGGAAC	0.393																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.e28+1		polycystic kidney and hepatic disease 1 (autosomal recessive)							139.0	126.0	131.0					6																	51900390		2203	4300	6503	SO:0001630	splice_region_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900390C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3228+1G>T	6.37:g.51900390C>A						PKHD1_ENST00000340994.4_Splice_Site_p.R1076_splice	p.R1076_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			28	3502	-	Lung NSC(77;0.0605)		1076			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37	c.3228_splice	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696372	0.48202	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76968	-1.06;-1.06	5.69	1.42	0.22433	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.555420	0.19337	N	0.116757	T	0.66519	0.2797	L	0.50333	1.59	0.28108	N	0.931124	D;D	0.61080	0.958;0.989	P;P	0.57371	0.568;0.819	T	0.58657	-0.7598	10	0.45353	T	0.12	.	5.5061	0.16854	0.3933:0.459:0.0:0.1477	.	1076;1076	P08F94-2;P08F94	.;PKHD1_HUMAN	M	1076	ENSP00000360158:R1076M;ENSP00000341097:R1076M	ENSP00000341097:R1076M	R	-	2	0	PKHD1	52008349	0.977000	0.34250	0.996000	0.52242	0.730000	0.41778	0.157000	0.16402	0.240000	0.21263	-0.188000	0.12872	AGG		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Missense_Mutation	4	63	1	0	0.150653	1	0.155562	4	63				
RNASEH1	246243	broad.mit.edu	37	2	3596679	3596679	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:3596679C>A	ENST00000315212.3	-	5	888	c.533G>T	c.(532-534)gGg>gTg	p.G178V	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	178	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TGTCTGCCGCCCAGGAAGTCT	0.318																																						ENST00000315212.3																			0				endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13						c.(532-534)gGg>gTg		ribonuclease H1							183.0	197.0	192.0					2																	3596679		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3596679C>A	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.533G>T	2.37:g.3596679C>A	ENSP00000313350:p.Gly178Val						p.G178V	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	5	888	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		178			RNase H.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.533G>T	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074763	0.76415	.	.	ENSG00000171865	ENST00000315212	T	0.56103	0.48	4.68	4.68	0.58851	Ribonuclease H domain (2);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81385	-0.0957	10	0.59425	D	0.04	-23.5744	15.4812	0.75528	0.0:1.0:0.0:0.0	.	178	O60930	RNH1_HUMAN	V	178	ENSP00000313350:G178V	ENSP00000313350:G178V	G	-	2	0	RNASEH1	3574554	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	5.755000	0.68750	2.581000	0.87130	0.655000	0.94253	GGG		0.318	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			7	102	1	0	0.00198382	1	0.00230193	7	102				
LINC01098	285501	broad.mit.edu	37	4	178897009	178897009	+	Missense_Mutation	SNP	C	C	A	rs190970915	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:178897009C>A	ENST00000507870.1	+	5	674	c.212C>A	c.(211-213)aCg>aAg	p.T71K																	lung(8)|prostate(1)	9						CACTGGGGCACGGGAAAGGGG	0.408																																						ENST00000507870.1																			0				lung(8)|prostate(1)	9						c.(211-213)aCg>aAg									197.0	200.0	199.0					4																	178897009		1875	4102	5977	SO:0001583	missense	285501							g.chr4:178897009C>A																												ENST00000507870.1:c.212C>A	4.37:g.178897009C>A	ENSP00000421352:p.Thr71Lys						p.T71K							5	674	+									Missense_Mutation	SNP	ENST00000507870.1	37	c.212C>A		.	.	.	.	.	.	.	.	.	.	C	13.63	2.294363	0.40594	.	.	ENSG00000231171	ENST00000507870	T	0.33216	1.42	4.08	-1.98	0.07480	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29058	-1.0024	5	.	.	.	.	3.3607	0.07185	0.2644:0.2791:0.3705:0.0859	.	.	.	.	K	71	ENSP00000421352:T71K	.	T	+	2	0	RP11-389E17.1	179134003	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.043000	0.13971	-0.489000	0.06716	-0.158000	0.13435	ACG		0.408	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			5	67	1	0	0.014758	1	0.0159185	5	67				
GJD2	57369	broad.mit.edu	37	15	35045322	35045322	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:35045322C>A	ENST00000290374.4	-	2	799	c.323G>T	c.(322-324)cGc>cTc	p.R108L	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	108					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGTAGAGTAGCGGCGTTCTCG	0.572																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(322-324)cGc>cTc		gap junction protein, delta 2, 36kDa							78.0	81.0	80.0					15																	35045322		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045322C>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.323G>T	15.37:g.35045322C>A	ENSP00000290374:p.Arg108Leu						p.R108L	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	799	-		all_lung(180;9.67e-07)	108					Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.323G>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018611	0.54576	.	.	ENSG00000159248	ENST00000290374	D	0.99136	-5.47	4.9	4.9	0.64082	Connexin, N-terminal (1);	3.071080	0.00763	N	0.001151	D	0.97961	0.9329	L	0.33485	1.01	0.80722	D	1	B	0.18461	0.028	B	0.16289	0.015	T	0.77064	-0.2726	10	0.72032	D	0.01	.	18.6368	0.91382	0.0:1.0:0.0:0.0	.	108	Q9UKL4	CXD2_HUMAN	L	108	ENSP00000290374:R108L	ENSP00000290374:R108L	R	-	2	0	GJD2	32832614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.598000	0.82745	2.717000	0.92951	0.650000	0.86243	CGC		0.572	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			10	75	1	0	1.76689e-08	1	2.78999e-08	10	75				
CDH19	28513	broad.mit.edu	37	18	64172127	64172127	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:64172127A>G	ENST00000262150.2	-	12	2533	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	3161	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TAAGGTAATCATAGCTTTCAT	0.418																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(2239-2241)taT>taC		cadherin 19, type 2							86.0	78.0	81.0					18																	64172127		2203	4300	6503	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172127A>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2241T>C	18.37:g.64172127A>G							p.Y747Y	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			12	2533	-		Esophageal squamous(42;0.0132)	747					O15098	Silent	SNP	ENST00000262150.2	37	c.2241T>C	CCDS11994.1																																																																																				0.418	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		6	51	0	0	0	1	0	6	51				
MIER3	166968	broad.mit.edu	37	5	56219659	56219659	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:56219659C>G	ENST00000381199.3	-	12	1064	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	MIER3_ENST00000381226.3_Splice_Site_p.D357H|MIER3_ENST00000381213.3_Splice_Site_p.D351H|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000409421.1_Splice_Site_p.D289H			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCCATATAGTCCCTGAAAAAC	0.418																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.e12-1		mesoderm induction early response 1, family member 3							138.0	138.0	138.0					5																	56219659		2203	4300	6503	SO:0001630	splice_region_variant	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56219659C>G	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1053-1G>C	5.37:g.56219659C>G						MIER3_ENST00000381199.3_Splice_Site_p.D352_splice|MIER3_ENST00000381213.3_Splice_Site_p.D351_splice|MIER3_ENST00000409421.1_Splice_Site_p.D289_splice|SETD9_ENST00000541720.1_Intron	p.D357_splice			Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	12	1084	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	352					B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Splice_Site	SNP	ENST00000381199.3	37	c.1067_splice		.	.	.	.	.	.	.	.	.	.	C	28.2	4.896490	0.91962	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.98	5.98	0.97165	.	0.041393	0.85682	D	0.000000	T	0.72153	0.3425	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.983	T	0.73388	-0.3998	10	0.87932	D	0	-13.3637	20.4496	0.99125	0.0:1.0:0.0:0.0	.	352;357;351	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	H	357;351;352;289	ENSP00000370624:D357H;ENSP00000370611:D351H;ENSP00000370596:D352H;ENSP00000386584:D289H	ENSP00000370596:D352H	D	-	1	0	MIER3	56255416	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.459000	0.80802	2.838000	0.97847	0.563000	0.77884	GAC		0.418	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	Missense_Mutation	11	70	0	0	0	1	0	11	70				
CCSER1	401145	broad.mit.edu	37	4	91229651	91229651	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:91229651T>A	ENST00000509176.1	+	2	504	c.216T>A	c.(214-216)caT>caA	p.H72Q	CCSER1_ENST00000333691.8_Missense_Mutation_p.H72Q|CCSER1_ENST00000432775.2_Missense_Mutation_p.H72Q	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	72																	GCTTCCACCATAAGAAGGGGA	0.478																																						ENST00000509176.1																			0											c.(214-216)caT>caA		coiled-coil serine-rich protein 1							153.0	143.0	146.0					4																	91229651		1958	4156	6114	SO:0001583	missense	401145							g.chr4:91229651T>A		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.216T>A	4.37:g.91229651T>A	ENSP00000425040:p.His72Gln					CCSER1_ENST00000432775.2_Missense_Mutation_p.H72Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.H72Q	p.H72Q	NM_001145065.1	NP_001138537.1					2	504	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.216T>A	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425149	0.62733	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.43294	1.49;0.95;1.49	5.18	-3.67	0.04476	.	0.187349	0.47093	D	0.000243	T	0.43765	0.1262	L	0.40543	1.245	0.30108	N	0.806868	D;D;D	0.59357	0.967;0.985;0.985	P;P;P	0.55391	0.578;0.775;0.775	T	0.54262	-0.8320	10	0.62326	D	0.03	-21.6285	14.9031	0.70696	0.0:0.58:0.0:0.42	.	72;72;72	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	Q	72	ENSP00000425040:H72Q;ENSP00000389283:H72Q;ENSP00000329482:H72Q	ENSP00000329482:H72Q	H	+	3	2	FAM190A	91448674	0.050000	0.20438	0.971000	0.41717	0.992000	0.81027	-0.293000	0.08320	-0.688000	0.05155	0.533000	0.62120	CAT		0.478	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		8	49	0	0	0	1	0	8	49				
CA2	760	broad.mit.edu	37	8	86386567	86386567	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:86386567C>T	ENST00000285379.5	+	4	596	c.366C>T	c.(364-366)caC>caT	p.H122H		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	122					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	ACTTGGTTCACTGGAACACCA	0.403																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(364-366)caC>caT		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						161.0	170.0	167.0					8																	86386567		2203	4300	6503	SO:0001819	synonymous_variant	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86386567C>T	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.366C>T	8.37:g.86386567C>T							p.H122H	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			4	596	+			122					B2R7G8|Q6FI12|Q96ET9	Silent	SNP	ENST00000285379.5	37	c.366C>T	CCDS6239.1																																																																																				0.403	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		13	75	0	0	0	1	0	13	75				
CYP4F11	57834	broad.mit.edu	37	19	16040321	16040321	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:16040321G>A	ENST00000402119.4	-	2	715	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	CYP4F11_ENST00000248041.8_Missense_Mutation_p.P97S|CYP4F11_ENST00000326742.8_Missense_Mutation_p.P97S|CYP4F11_ENST00000591841.1_5'Flank	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGAGGAGGGGGAAGGTAGGA	0.542																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(289-291)Ccc>Tcc		cytochrome P450, family 4, subfamily F, polypeptide 11							157.0	157.0	157.0					19																	16040321		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040321G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.289C>T	19.37:g.16040321G>A	ENSP00000384588:p.Pro97Ser					CYP4F11_ENST00000248041.7_Missense_Mutation_p.P97S|CYP4F11_ENST00000402119.3_Missense_Mutation_p.P97S	p.P97S			Q9HBI6	CP4FB_HUMAN			2	290	-			97						Missense_Mutation	SNP	ENST00000402119.4	37	c.289C>T	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	g	12.46	1.943428	0.34283	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.97404	-4.37;-4.37;-4.37	2.97	1.92	0.25849	.	0.176886	0.36034	U	0.002838	D	0.95277	0.8468	L	0.41573	1.285	0.09310	N	1	B;B	0.33739	0.322;0.422	B;P	0.46452	0.23;0.517	D	0.89862	0.4017	10	0.42905	T	0.14	.	7.4784	0.27390	0.1376:0.0:0.8624:0.0	.	97;97	F8W978;Q9HBI6	.;CP4FB_HUMAN	S	97	ENSP00000384588:P97S;ENSP00000248041:P97S;ENSP00000319859:P97S	ENSP00000248041:P97S	P	-	1	0	CYP4F11	15901321	0.861000	0.29849	0.002000	0.10522	0.132000	0.20833	1.836000	0.39191	0.434000	0.26340	0.313000	0.20887	CCC		0.542	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		9	122	0	0	0	1	0	9	122				
SYT6	148281	broad.mit.edu	37	1	114682431	114682431	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:114682431G>A	ENST00000610222.1	-	2	464	c.318C>T	c.(316-318)ctC>ctT	p.L106L	SYT6_ENST00000607941.1_Silent_p.L21L|SYT6_ENST00000609117.1_Silent_p.L21L|SYT6_ENST00000369547.1_Silent_p.L21L|SYT6_ENST00000393296.1_Silent_p.L106L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	106					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGGCTCTGGAGGGCTTCCA	0.597																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(316-318)ctC>ctT		synaptotagmin VI							95.0	104.0	101.0					1																	114682431		2203	4300	6503	SO:0001819	synonymous_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114682431G>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.318C>T	1.37:g.114682431G>A						SYT6_ENST00000369547.1_Silent_p.L21L	p.L106L			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	395	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	106					B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37	c.318C>T																																																																																					0.597	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		10	76	0	0	0	1	0	10	76				
NDUFV3	4731	broad.mit.edu	37	21	44323586	44323586	+	Intron	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:44323586C>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.S155C	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TCGTCTTCATCCTCTTCCAGC	0.512																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(463-465)tCc>tGc		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						105.0	106.0	106.0					21																	44323586		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44323586C>G		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5388C>G	21.37:g.44323586C>G						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.S155C	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	533	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.464C>G	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553452	0.86127	.	.	ENSG00000160194	ENST00000354250	T	0.46819	0.86	5.0	5.0	0.66597	.	0.122142	0.56097	D	0.000022	T	0.59514	0.2199	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62506	-0.6840	10	0.87932	D	0	-18.3563	16.9654	0.86284	0.0:1.0:0.0:0.0	.	155	P56181-2	.	C	155	ENSP00000346196:S155C	ENSP00000346196:S155C	S	+	2	0	NDUFV3	43196655	0.982000	0.34865	0.955000	0.39395	0.217000	0.24651	3.467000	0.53078	2.702000	0.92279	0.655000	0.94253	TCC		0.512	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			12	78	0	0	0	1	0	12	78				
GPR37	2861	broad.mit.edu	37	7	124404159	124404159	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:124404159T>C	ENST00000303921.2	-	1	1522	c.872A>G	c.(871-873)tAc>tGc	p.Y291C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	291					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						GCTCCGCATGTAGTAGTTGTG	0.562																																						ENST00000303921.2																			0				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						c.(871-873)tAc>tGc		G protein-coupled receptor 37 (endothelin receptor type B-like)							112.0	115.0	114.0					7																	124404159		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404159T>C		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.872A>G	7.37:g.124404159T>C	ENSP00000306449:p.Tyr291Cys						p.Y291C	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	1522	-			291					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.872A>G	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522185	0.44866	.	.	ENSG00000170775	ENST00000303921	T	0.71934	-0.61	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.275476	0.35495	N	0.003179	T	0.73651	0.3614	N	0.21282	0.65	0.52501	D	0.999958	D	0.89917	1.0	D	0.77557	0.99	T	0.71839	-0.4471	10	0.28530	T	0.3	-31.3029	14.9949	0.71425	0.0:0.0:0.0:1.0	.	291	O15354	GPR37_HUMAN	C	291	ENSP00000306449:Y291C	ENSP00000306449:Y291C	Y	-	2	0	GPR37	124191395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.091000	0.71406	2.319000	0.78375	0.523000	0.50628	TAC		0.562	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		11	70	0	0	0	1	0	11	70				
RPL15	6138	broad.mit.edu	37	3	23960061	23960061	+	Silent	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:23960061T>A	ENST00000307839.5	+	3	942	c.303T>A	c.(301-303)gtT>gtA	p.V101V	NKIRAS1_ENST00000416026.2_5'Flank|RPL15_ENST00000435882.1_Silent_p.V101V|NKIRAS1_ENST00000425478.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000354811.5_Silent_p.V101V|NKIRAS1_ENST00000415901.2_5'Flank|NKIRAS1_ENST00000443659.2_5'Flank|RPL15_ENST00000456530.2_Silent_p.V101V|NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|RPL15_ENST00000413699.1_Silent_p.V101V|RPL15_ENST00000415719.1_Silent_p.V101V|NKIRAS1_ENST00000412028.1_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	101				V -> L (in Ref. 5; AAG44837). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCAGTCCGTTGCAGAGGTAA	0.473																																						ENST00000307839.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(301-303)gtT>gtA		ribosomal protein L15							127.0	127.0	127.0					3																	23960061		2203	4300	6503	SO:0001819	synonymous_variant	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23960061T>A	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"""L ribosomal proteins"""	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.303T>A	3.37:g.23960061T>A						RPL15_ENST00000413699.1_Silent_p.V101V|RPL15_ENST00000456530.2_Silent_p.V101V|RPL15_ENST00000435882.1_Silent_p.V101V|RPL15_ENST00000415719.1_Silent_p.V101V|RPL15_ENST00000354811.5_Silent_p.V101V|NKIRAS1_ENST00000421515.2_Intron	p.V101V	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN			3	942	+			101	V -> L (in Ref. 5; AAG44837).				P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Silent	SNP	ENST00000307839.5	37	c.303T>A	CCDS2640.1																																																																																				0.473	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		8	44	0	0	0	1	0	8	44				
SF3B2	10992	broad.mit.edu	37	11	65827009	65827009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:65827009G>T	ENST00000322535.6	+	12	1393	c.1344G>T	c.(1342-1344)aaG>aaT	p.K448N	SF3B2_ENST00000528302.1_Missense_Mutation_p.K431N	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	448					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AAGCCCCCAAGCTGTCCAAGA	0.537																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1291-1293)aaG>aaT		splicing factor 3b, subunit 2, 145kDa							86.0	92.0	90.0					11																	65827009		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65827009G>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1344G>T	11.37:g.65827009G>T	ENSP00000318861:p.Lys448Asn					SF3B2_ENST00000322535.6_Missense_Mutation_p.K448N	p.K431N			Q13435	SF3B2_HUMAN			11	1347	+			448					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1293G>T	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538391	0.65085	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	4.78	1.61	0.23674	.	0.050205	0.85682	D	0.000000	T	0.64538	0.2607	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.63047	-0.6724	9	0.66056	D	0.02	-33.2866	5.9538	0.19261	0.4166:0.0:0.5834:0.0	.	448	Q13435	SF3B2_HUMAN	N	431;448;352	.	ENSP00000318861:K448N	K	+	3	2	SF3B2	65583585	0.993000	0.37304	1.000000	0.80357	0.990000	0.78478	0.326000	0.19646	0.591000	0.29711	0.555000	0.69702	AAG		0.537	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			5	61	1	0	0.184627	1	0.188945	5	61				
GRIK4	2900	broad.mit.edu	37	11	120744884	120744884	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:120744884A>T	ENST00000527524.2	+	10	1303	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.Q339L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	339					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGCTCGGCCCAGATCTGGCAG	0.632																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1015-1017)cAg>cTg		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						46.0	41.0	43.0					11																	120744884		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120744884A>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1016A>T	11.37:g.120744884A>T	ENSP00000435648:p.Gln339Leu					GRIK4_ENST00000438375.2_Missense_Mutation_p.Q339L|RP11-640N11.2_ENST00000505153.2_RNA	p.Q339L			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	10	1303	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	339					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1016A>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	a	17.40	3.379951	0.61845	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.82526	-1.62;-1.62	4.93	4.93	0.64822	Extracellular ligand-binding receptor (1);	0.210406	0.18420	U	0.141798	T	0.80964	0.4725	L	0.56769	1.78	0.46749	D	0.999183	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.008	T	0.77400	-0.2602	10	0.45353	T	0.12	.	14.8759	0.70493	1.0:0.0:0.0:0.0	.	339;339	A6H8K8;Q16099	.;GRIK4_HUMAN	L	339	ENSP00000435648:Q339L;ENSP00000404063:Q339L	ENSP00000404063:Q339L	Q	+	2	0	GRIK4	120250094	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.913000	0.75759	1.978000	0.57642	0.241000	0.17934	CAG		0.632	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		4	16	0	0	0	1	0	4	16				
TXNRD1	7296	broad.mit.edu	37	12	104712825	104712825	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:104712825A>T	ENST00000529546.1	+	5	526	c.301A>T	c.(301-303)Agg>Tgg	p.R101W	TXNRD1_ENST00000526390.1_Missense_Mutation_p.R183W|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R238W|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R183W|TXNRD1_ENST00000526691.1_Missense_Mutation_p.R191W|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R254W|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R189W|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R191W|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R289W|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R139W|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R101W|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R139W|TXNRD1_ENST00000525566.1_Missense_Mutation_p.R289W|TXNRD1_ENST00000526950.1_Missense_Mutation_p.R208W|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R139W			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	289	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGGTCCTCACAGGATTAAGGT	0.348																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(571-573)Agg>Tgg		thioredoxin reductase 1							111.0	107.0	109.0					12																	104712825		1831	4084	5915	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104712825A>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.301A>T	12.37:g.104712825A>T	ENSP00000434919:p.Arg101Trp					TXNRD1_ENST00000526950.1_Missense_Mutation_p.R208W|TXNRD1_ENST00000378070.4_Missense_Mutation_p.R238W|TXNRD1_ENST00000397736.2_Missense_Mutation_p.R183W|TXNRD1_ENST00000388854.3_Missense_Mutation_p.R191W|TXNRD1_ENST00000540716.1_Missense_Mutation_p.R101W|TXNRD1_ENST00000354940.6_Missense_Mutation_p.R139W|TXNRD1_ENST00000503506.2_Missense_Mutation_p.R139W|TXNRD1_ENST00000542918.1_Missense_Mutation_p.R189W|TXNRD1_ENST00000529546.1_Missense_Mutation_p.R101W|TXNRD1_ENST00000429002.2_Missense_Mutation_p.R289W|TXNRD1_ENST00000526390.1_Missense_Mutation_p.R183W|TXNRD1_ENST00000525566.1_Missense_Mutation_p.R289W|TXNRD1_ENST00000524698.1_Missense_Mutation_p.R139W|TXNRD1_ENST00000427956.1_Missense_Mutation_p.R254W	p.R191W	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			6	1027	+			289					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.571A>T	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690198	0.88735	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.27	4.09	0.47781	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.191650	0.53938	D	0.000048	T	0.58221	0.2107	L	0.54323	1.7	0.34372	D	0.692192	D;D;D;P;P;D;P	0.69078	0.99;0.958;0.997;0.948;0.703;0.987;0.857	P;P;P;P;P;P;P	0.59595	0.654;0.806;0.86;0.523;0.535;0.86;0.806	T	0.70905	-0.4745	10	0.72032	D	0.01	-9.675	12.1932	0.54282	0.857:0.143:0.0:0.0	.	189;183;289;191;139;289;254	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	W	289;289;139;191;191;139;183;101;101;139;189;238;139;183;254;208	ENSP00000434516:R289W;ENSP00000412045:R289W;ENSP00000421934:R139W;ENSP00000435929:R191W;ENSP00000373506:R191W;ENSP00000347020:R139W;ENSP00000435123:R183W;ENSP00000434919:R101W;ENSP00000442709:R101W;ENSP00000433425:R139W;ENSP00000440978:R189W;ENSP00000367310:R238W;ENSP00000433599:R139W;ENSP00000380844:R183W;ENSP00000393328:R254W;ENSP00000432812:R208W	ENSP00000347020:R139W	R	+	1	2	TXNRD1	103236955	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.298000	0.72763	0.823000	0.34589	0.519000	0.50382	AGG		0.348	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		5	39	0	0	0	1	0	5	39				
OR52B6	340980	broad.mit.edu	37	11	5602457	5602457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:5602457C>G	ENST00000345043.2	+	1	351	c.351C>G	c.(349-351)tgC>tgG	p.C117W	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	117						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(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATGGCTGCCTCACTCAGA	0.532																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(349-351)tgC>tgG		olfactory receptor, family 52, subfamily B, member 6							109.0	108.0	108.0					11																	5602457		2200	4296	6496	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602457C>G	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.351C>G	11.37:g.5602457C>G	ENSP00000341581:p.Cys117Trp					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.C117W	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	351	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	117					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.351C>G	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558784	0.45590	.	.	ENSG00000187747	ENST00000345043	T	0.00551	6.65	5.15	0.451	0.16629	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	U	0.000591	T	0.04497	0.0123	H	0.99825	4.815	0.50632	D	0.999886	D	0.89917	1.0	D	0.97110	1.0	T	0.02081	-1.1217	10	0.87932	D	0	.	7.0536	0.25087	0.0:0.4146:0.0:0.5854	.	117	Q8NGF0	O52B6_HUMAN	W	117	ENSP00000341581:C117W	ENSP00000341581:C117W	C	+	3	2	OR52B6	5559033	0.000000	0.05858	1.000000	0.80357	0.842000	0.47809	-0.267000	0.08619	0.206000	0.20587	0.650000	0.86243	TGC		0.532	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		12	69	0	0	0	1	0	12	69				
OR8J3	81168	broad.mit.edu	37	11	55904673	55904673	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55904673G>T	ENST00000301529.1	-	1	521	c.522C>A	c.(520-522)atC>atA	p.I174I		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AAAAATGATTGATTATATTAG	0.373																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(520-522)atC>atA		olfactory receptor, family 8, subfamily J, member 3							91.0	90.0	90.0					11																	55904673		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904673G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.522C>A	11.37:g.55904673G>T							p.I174I	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	521	-	Esophageal squamous(21;0.00693)		174					Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.522C>A	CCDS31520.1																																																																																				0.373	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		4	57	1	0	0.00909568	1	0.00998677	4	57				
KIAA1715	80856	broad.mit.edu	37	2	176812327	176812327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:176812327C>A	ENST00000272748.4	-	9	834	c.587G>T	c.(586-588)gGa>gTa	p.G196V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.G121V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G196V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	196	Pro-rich.				blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTTTGGTGGTCCAGGAGATAC	0.522																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(586-588)gGa>gTa		KIAA1715							137.0	127.0	130.0					2																	176812327		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176812327C>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.587G>T	2.37:g.176812327C>A	ENSP00000272748:p.Gly196Val					KIAA1715_ENST00000535310.1_Missense_Mutation_p.G121V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G196V	p.G196V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		9	834	-			196			Pro-rich.		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.587G>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794795	0.31777	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	6.17	3.18	0.36537	.	0.321794	0.37530	N	0.002046	T	0.53481	0.1799	M	0.67397	2.05	0.80722	D	1	P;B;P;B	0.38078	0.617;0.058;0.483;0.002	B;B;B;B	0.39738	0.308;0.012;0.084;0.008	T	0.55636	-0.8110	9	0.87932	D	0	-10.0821	6.3276	0.21253	0.1237:0.4474:0.3583:0.0706	.	198;196;193;196	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	196;198;73;196;121	.	ENSP00000272748:G196V	G	-	2	0	KIAA1715	176520573	0.976000	0.34144	0.998000	0.56505	0.997000	0.91878	1.097000	0.30988	0.874000	0.35823	0.655000	0.94253	GGA		0.522	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		5	63	1	0	0.000602214	1	0.000725341	5	63				
PDE1A	5136	broad.mit.edu	37	2	183104854	183104854	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:183104854A>T	ENST00000410103.1	-	4	464	c.381T>A	c.(379-381)gcT>gcA	p.A127A	PDE1A_ENST00000435564.1_Silent_p.A127A|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000331935.6_Silent_p.A127A|PDE1A_ENST00000409365.1_Silent_p.A111A|PDE1A_ENST00000456212.1_Silent_p.A127A|PDE1A_ENST00000536095.1_Silent_p.A23A|PDE1A_ENST00000358139.2_Silent_p.A127A|PDE1A_ENST00000346717.4_Silent_p.A93A|PDE1A_ENST00000351439.5_Silent_p.A111A	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	127					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CAAAAATTCCAGCTTGAACAG	0.398																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(379-381)gcT>gcA		phosphodiesterase 1A, calmodulin-dependent							141.0	139.0	139.0					2																	183104854		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183104854A>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.381T>A	2.37:g.183104854A>T						PDE1A_ENST00000410103.1_Silent_p.A127A|PDE1A_ENST00000409365.1_Silent_p.A111A|PDE1A_ENST00000358139.2_Silent_p.A127A|PDE1A_ENST00000351439.5_Silent_p.A111A|PDE1A_ENST00000331935.6_Silent_p.A127A|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Silent_p.A93A|PDE1A_ENST00000536095.1_Silent_p.A23A|PDE1A_ENST00000456212.1_Silent_p.A127A	p.A127A	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		3	581	-			127					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.381T>A	CCDS33344.1																																																																																				0.398	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			8	44	0	0	0	1	0	8	44				
RNF17	56163	broad.mit.edu	37	13	25341455	25341455	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:25341455G>T	ENST00000255324.5	+	2	228	c.176G>T	c.(175-177)tGc>tTc	p.C59F	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.C59F|RNF17_ENST00000255325.6_Missense_Mutation_p.C59F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	59					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTGAACTATGCTTGTTAATG	0.318																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(175-177)tGc>tTc		ring finger protein 17							214.0	190.0	198.0					13																	25341455		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25341455G>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.176G>T	13.37:g.25341455G>T	ENSP00000255324:p.Cys59Phe					RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.C59F|RNF17_ENST00000381921.1_Missense_Mutation_p.C59F	p.C59F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	2	228	+		Lung SC(185;0.0225)|Breast(139;0.077)	59					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.176G>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834489	0.32421	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.99680	-6.38;-6.38;-6.38	4.78	3.93	0.45458	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.000000	0.53938	D	0.000044	D	0.99036	0.9670	L	0.32530	0.975	0.36103	D	0.844268	P;P;D	0.58970	0.666;0.666;0.984	B;B;P	0.58172	0.137;0.137;0.834	D	0.99928	1.1300	10	0.87932	D	0	.	8.5889	0.33674	0.1039:0.0:0.8961:0.0	.	59;59;59	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	F	59	ENSP00000255324:C59F;ENSP00000371346:C59F;ENSP00000255325:C59F	ENSP00000255324:C59F	C	+	2	0	RNF17	24239455	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.078000	0.50096	1.210000	0.43336	0.585000	0.79938	TGC		0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		8	43	1	0	0.000274275	1	0.00034016	8	43				
DCAF12L2	340578	broad.mit.edu	37	X	125299102	125299102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:125299102G>T	ENST00000360028.2	-	1	832	c.806C>A	c.(805-807)gCc>gAc	p.A269D	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A269D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTGAAGGCCAGGGCCCG	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(805-807)gCc>gAc		DDB1 and CUL4 associated factor 12-like 2							44.0	48.0	47.0					X																	125299102		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299102G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.806C>A	X.37:g.125299102G>T	ENSP00000353128:p.Ala269Asp					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A269D	p.A269D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	886	-			269					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.806C>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556446	0.65425	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66460	-0.21;-0.21	3.72	2.81	0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36134	N	0.002769	T	0.78214	0.4248	M	0.77820	2.39	0.38744	D	0.953944	D	0.89917	1.0	D	0.85130	0.997	T	0.78692	-0.2105	10	0.54805	T	0.06	.	7.8955	0.29704	0.0:0.2492:0.7508:0.0	.	269	Q5VW00	DC122_HUMAN	D	269	ENSP00000441489:A269D;ENSP00000353128:A269D	ENSP00000353128:A269D	A	-	2	0	DCAF12L2	125126783	1.000000	0.71417	0.930000	0.37139	0.970000	0.65996	8.043000	0.89432	0.876000	0.35872	0.544000	0.68410	GCC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		4	27	1	0	0.00909568	1	0.00998677	4	27				
GBP6	163351	broad.mit.edu	37	1	89849845	89849845	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:89849845G>T	ENST00000370456.4	+	10	1755	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	GBP6_ENST00000535065.1_Splice_Site_p.K424N	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	554					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ACACGCAGAAGGTAAGTCTGC	0.522																																						ENST00000370456.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.e10+1		guanylate binding protein family, member 6							80.0	69.0	73.0					1																	89849845		2203	4300	6503	SO:0001630	splice_region_variant	163351						GTP binding|GTPase activity	g.chr1:89849845G>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1662+1G>T	1.37:g.89849845G>T						GBP6_ENST00000535065.1_Splice_Site_p.K424_splice	p.K554_splice	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	10	1755	+		Lung NSC(277;0.0908)	554					A2RRM3|Q6ZN86|Q7Z3F0	Splice_Site	SNP	ENST00000370456.4	37	c.1662_splice	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442418	0.63067	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.58060	0.36;0.36	5.23	5.23	0.72850	Guanylate-binding protein, C-terminal (3);	0.248656	0.31438	N	0.007648	T	0.71945	0.3400	M	0.90542	3.125	0.41244	D	0.986666	D	0.63046	0.992	D	0.70227	0.968	T	0.78658	-0.2118	10	0.87932	D	0	-30.453	14.2946	0.66302	0.0:0.0:1.0:0.0	.	554	Q6ZN66	GBP6_HUMAN	N	525;554;424	ENSP00000359485:K554N;ENSP00000442530:K424N	ENSP00000359485:K554N	K	+	3	2	GBP6	89622433	1.000000	0.71417	0.984000	0.44739	0.366000	0.29705	3.975000	0.56859	2.433000	0.82419	0.591000	0.81541	AAG		0.522	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	Missense_Mutation	4	8	1	0	0.150653	1	0.155562	4	8				
DIP2A	23181	broad.mit.edu	37	21	47971582	47971582	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:47971582G>T	ENST00000417564.2	+	24	2896	c.2875G>T	c.(2875-2877)Gtt>Ttt	p.V959F	DIP2A_ENST00000400274.1_Missense_Mutation_p.V955F|DIP2A_ENST00000427143.2_Missense_Mutation_p.V895F|DIP2A_ENST00000318711.7_Missense_Mutation_p.V960F			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	959					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGGGAACCTGGTTGCTGGGAA	0.552																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2878-2880)Gtt>Ttt		DIP2 disco-interacting protein 2 homolog A (Drosophila)							35.0	37.0	36.0					21																	47971582		1993	4192	6185	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47971582G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2875G>T	21.37:g.47971582G>T	ENSP00000392066:p.Val959Phe					DIP2A_ENST00000427143.2_Missense_Mutation_p.V895F|DIP2A_ENST00000400274.1_Missense_Mutation_p.V955F|DIP2A_ENST00000417564.2_Missense_Mutation_p.V959F	p.V960F	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	24	3061	+	Breast(49;0.0933)		959					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2878G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209794	0.95069	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.27720	1.66;1.65;1.67;1.66	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	T	0.59810	0.2221	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.98;0.99	T	0.63350	-0.6657	10	0.56958	D	0.05	-18.9754	18.0294	0.89278	0.0:0.0:1.0:0.0	.	960;895;959	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	F	955;895;960;959	ENSP00000383133:V955F;ENSP00000400528:V895F;ENSP00000323633:V960F;ENSP00000392066:V959F	ENSP00000323633:V960F	V	+	1	0	DIP2A	46796010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.689000	0.98673	2.489000	0.83994	0.655000	0.94253	GTT		0.552	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		4	13	1	0	0.00024832	1	0.000309642	4	13				
MTUS2	23281	broad.mit.edu	37	13	29599464	29599464	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:29599464C>A	ENST00000431530.3	+	1	717	c.659C>A	c.(658-660)cCt>cAt	p.P220H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	210						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGTCAGATACCTGGGGGTGGG	0.602																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(658-660)cCt>cAt		microtubule associated tumor suppressor candidate 2							35.0	39.0	38.0					13																	29599464		2196	4287	6483	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599464C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.659C>A	13.37:g.29599464C>A	ENSP00000392057:p.Pro220His						p.P220H	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	717	+			210					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.659C>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	16.06	3.015946	0.54468	.	.	ENSG00000132938	ENST00000431530	T	0.13307	2.6	5.39	3.65	0.41850	.	0.898763	0.09438	N	0.802182	T	0.23806	0.0576	L	0.57536	1.79	0.09310	N	0.999993	D	0.63046	0.992	P	0.53146	0.719	T	0.10154	-1.0642	9	.	.	.	.	8.0477	0.30559	0.0:0.7481:0.0:0.2519	.	210	Q5JR59	MTUS2_HUMAN	H	220	ENSP00000392057:P220H	.	P	+	2	0	MTUS2	28497464	0.001000	0.12720	0.001000	0.08648	0.141000	0.21300	1.360000	0.34125	1.265000	0.44215	0.561000	0.74099	CCT		0.602	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		4	37	1	0	1	1	1	4	37				
IMPG1	3617	broad.mit.edu	37	6	76751720	76751720	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:76751720G>A	ENST00000369950.3	-	2	380	c.191C>T	c.(190-192)gCa>gTa	p.A64V	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGATGCTTTGCCAAATCGAA	0.363																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(190-192)gCa>gTa		interphotoreceptor matrix proteoglycan 1							177.0	166.0	170.0					6																	76751720		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751720G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.191C>T	6.37:g.76751720G>A	ENSP00000358966:p.Ala64Val					IMPG1_ENST00000369963.3_Intron	p.A64V	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			2	380	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	64						Missense_Mutation	SNP	ENST00000369950.3	37	c.191C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526404	0.44969	.	.	ENSG00000112706	ENST00000369950	T	0.21031	2.03	6.07	5.2	0.72013	.	0.524836	0.18513	N	0.138992	T	0.08223	0.0205	L	0.52364	1.645	0.80722	D	1	P	0.38473	0.633	B	0.26614	0.071	T	0.06752	-1.0809	9	.	.	.	.	10.446	0.44495	0.0674:0.0:0.8007:0.1319	.	64	Q17R60	IMPG1_HUMAN	V	64	ENSP00000358966:A64V	.	A	-	2	0	IMPG1	76808440	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	2.671000	0.46842	2.885000	0.99019	0.655000	0.94253	GCA		0.363	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		7	60	0	0	0	1	0	7	60				
CDKN2A	1029	broad.mit.edu	37	9	21974724	21974724	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:21974724C>A	ENST00000304494.5	-	1	373	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	CDKN2A_ENST00000446177.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G35W|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	35			G -> A (in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding). {ECO:0000269|PubMed:8595405}.|G -> E (in CMM2). {ECO:0000269|PubMed:8595405}.|G -> V (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.?(23)|p.L32_L37del(5)|p.G35R(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.A36fs*8(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)		GGCAGCGCCCCCGCCTCCAGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1350	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(6)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35R(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.A36fs*8(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(54)|pleura(52)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	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						c.(103-105)Ggg>Tgg		cyclin-dependent kinase inhibitor 2A							31.0	41.0	37.0					9																	21974724		2163	4242	6405	SO:0001583	missense	1029				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 kinase binding	g.chr9:21974724C>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.103G>T	9.37:g.21974724C>A	ENSP00000307101:p.Gly35Trp	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G35W|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron	p.G35W	NM_000077.4	NP_000068.1	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)	1	373	-		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)	35		G -> A (in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding).|G -> E (in CMM2).|G -> V (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.103G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.148361	0.97324	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.81996	-1.56;-1.56	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.95570	0.8560	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97603	1.0124	9	0.87932	D	0	.	17.3226	0.87240	0.0:1.0:0.0:0.0	.	35;35	P42771;G3XAG3	CD2A1_HUMAN;.	W	35	ENSP00000307101:G35W;ENSP00000394932:G35W	ENSP00000307101:G35W	G	-	1	0	CDKN2A	21964724	0.850000	0.29656	0.821000	0.32701	0.929000	0.56500	2.935000	0.48963	2.681000	0.91329	0.655000	0.94253	GGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		16	56	1	0	1.5739e-10	1	2.60615e-10	16	56				
OR8K1	390157	broad.mit.edu	37	11	56113724	56113724	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56113724A>G	ENST00000279783.2	+	1	304	c.210A>G	c.(208-210)agA>agG	p.R70R		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TTTTCCTTAGACATTTGTCAA	0.408										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(208-210)agA>agG		olfactory receptor, family 8, subfamily K, member 1							167.0	153.0	158.0					11																	56113724		2201	4296	6497	SO:0001819	synonymous_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113724A>G	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.210A>G	11.37:g.56113724A>G		HNSCC(65;0.19)					p.R70R	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	304	+	Esophageal squamous(21;0.00448)		70					B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	c.210A>G	CCDS31528.1																																																																																				0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		10	96	0	0	0	1	0	10	96				
GPR124	25960	broad.mit.edu	37	8	37696482	37696482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:37696482C>A	ENST00000412232.2	+	15	2281	c.2268C>A	c.(2266-2268)agC>agA	p.S756R	GPR124_ENST00000315215.7_Missense_Mutation_p.S539R	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	756	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGAGCTGAGCGCCTTTCCCA	0.672																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1615-1617)agC>agA		G protein-coupled receptor 124							33.0	36.0	35.0					8																	37696482		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37696482C>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2268C>A	8.37:g.37696482C>A	ENSP00000406367:p.Ser756Arg					GPR124_ENST00000412232.2_Missense_Mutation_p.S756R	p.S539R			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	1980	+			756					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1617C>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193541	0.38707	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.60299	0.31;0.2	5.37	-9.9	0.00461	GPS domain (2);	0.289956	0.38959	N	0.001517	T	0.45677	0.1354	L	0.48642	1.525	0.09310	N	1	B;P	0.48764	0.003;0.915	B;B	0.41510	0.007;0.359	T	0.55964	-0.8057	10	0.25106	T	0.35	-1.1239	22.5643	0.99973	0.0:0.7778:0.0:0.2222	.	539;756	Q96PE1-2;Q96PE1	.;GP124_HUMAN	R	749;539;756	ENSP00000323508:S539R;ENSP00000406367:S756R	ENSP00000323508:S539R	S	+	3	2	GPR124	37815640	0.091000	0.21658	0.032000	0.17829	0.115000	0.19883	0.128000	0.15810	-2.144000	0.00802	-1.101000	0.02118	AGC		0.672	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	27	1	0	0.000602214	1	0.000725341	5	27				
LAMP5	24141	broad.mit.edu	37	20	9510312	9510312	+	Silent	SNP	C	C	A	rs368961716		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:9510312C>A	ENST00000246070.2	+	6	1180	c.688C>A	c.(688-690)Cgg>Agg	p.R230R	LAMP5_ENST00000427562.2_Silent_p.R186R	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	230						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											AGTGGATGAGCGGGAGCAACT	0.468																																						ENST00000246070.2																			0											c.(688-690)Cgg>Agg		lysosomal-associated membrane protein family, member 5							98.0	80.0	86.0					20																	9510312		2203	4300	6503	SO:0001819	synonymous_variant	24141					integral to membrane		g.chr20:9510312C>A	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.688C>A	20.37:g.9510312C>A						LAMP5_ENST00000427562.2_Silent_p.R186R	p.R230R	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN			6	1180	+			230					B4DHZ7|B7Z9Z9	Silent	SNP	ENST00000246070.2	37	c.688C>A	CCDS13106.1																																																																																				0.468	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		6	33	1	0	0.0215528	1	0.0230314	6	33				
ARFGEF1	10565	broad.mit.edu	37	8	68213491	68213491	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:68213491G>T	ENST00000262215.3	-	3	669	c.280C>A	c.(280-282)Cgc>Agc	p.R94S		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	94	DCB; DCB:DCB domain and DCB:HUS domain interaction.				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)			CTAACTATGCGAGGACATTTG	0.373																																						ENST00000262215.3																			0				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						c.(280-282)Cgc>Agc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							157.0	141.0	146.0					8																	68213491		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68213491G>T	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.280C>A	8.37:g.68213491G>T	ENSP00000262215:p.Arg94Ser						p.R94S	NM_006421.4	NP_006412.2	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)		3	669	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	94					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.280C>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252433	0.80135	.	.	ENSG00000066777	ENST00000262215;ENST00000519436	T	0.20069	2.1	5.28	5.28	0.74379	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41073	0.1143	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06110	-1.0845	10	0.46703	T	0.11	.	14.0906	0.64987	0.0:0.0:0.813:0.187	.	94	Q9Y6D6	BIG1_HUMAN	S	94	ENSP00000262215:R94S	ENSP00000262215:R94S	R	-	1	0	ARFGEF1	68376045	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.344000	0.59354	2.644000	0.89710	0.655000	0.94253	CGC		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		9	53	1	0	3.09899e-07	1	4.6688e-07	9	53				
DMXL2	23312	broad.mit.edu	37	15	51837835	51837835	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:51837835G>T	ENST00000251076.5	-	8	1162	c.875C>A	c.(874-876)gCc>gAc	p.A292D	DMXL2_ENST00000449909.3_Missense_Mutation_p.A292D|DMXL2_ENST00000543779.2_Missense_Mutation_p.A292D|DMXL2_ENST00000560421.1_5'Flank	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	292						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGGCTGCTGGCAATGCTGGA	0.408																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(874-876)gCc>gAc		Dmx-like 2							133.0	136.0	135.0					15																	51837835		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51837835G>T	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.875C>A	15.37:g.51837835G>T	ENSP00000251076:p.Ala292Asp					DMXL2_ENST00000543779.2_Missense_Mutation_p.A292D|DMXL2_ENST00000449909.3_Missense_Mutation_p.A292D	p.A292D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	8	1162	-			292					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.875C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617221	0.28801	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23950	2.03;2.03;1.88	5.86	3.83	0.44106	.	0.330548	0.37530	N	0.002060	T	0.22126	0.0533	L	0.36672	1.1	0.23249	N	0.998041	B;B;B	0.24258	0.029;0.1;0.017	B;B;B	0.26770	0.073;0.033;0.022	T	0.13791	-1.0496	10	0.40728	T	0.16	.	14.5034	0.67737	0.0:0.2607:0.7393:0.0	.	292;292;292	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	D	292	ENSP00000251076:A292D;ENSP00000441858:A292D;ENSP00000400855:A292D	ENSP00000251076:A292D	A	-	2	0	DMXL2	49625127	1.000000	0.71417	0.971000	0.41717	0.272000	0.26649	3.534000	0.53568	2.783000	0.95769	0.591000	0.81541	GCC		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		14	78	1	0	0.000151284	1	0.00019283	14	78				
MARCH11	441061	broad.mit.edu	37	5	16067784	16067784	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:16067784C>A	ENST00000332432.8	-	4	1204	c.1005G>T	c.(1003-1005)cgG>cgT	p.R335R		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	335					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AAGACTCTCCCCGGCTGCTTT	0.483																																						ENST00000332432.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						c.(1003-1005)cgG>cgT		membrane-associated ring finger (C3HC4) 11							90.0	89.0	89.0					5																	16067784		1925	4132	6057	SO:0001819	synonymous_variant	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067784C>A	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1005G>T	5.37:g.16067784C>A							p.R335R	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN			4	1204	-			335					A7E2S6	Silent	SNP	ENST00000332432.8	37	c.1005G>T	CCDS47192.1																																																																																				0.483	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		8	50	1	0	0.27861	1	0.28292	8	50				
CLASP2	23122	broad.mit.edu	37	3	33576820	33576820	+	Missense_Mutation	SNP	T	T	C	rs570365071		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:33576820T>C	ENST00000468888.2	-	34	3762	c.3716A>G	c.(3715-3717)tAt>tGt	p.Y1239C	CLASP2_ENST00000461133.3_Missense_Mutation_p.Y998C|CLASP2_ENST00000359576.5_Missense_Mutation_p.Y1230C|CLASP2_ENST00000539981.1_Missense_Mutation_p.Y1008C|CLASP2_ENST00000480013.1_Missense_Mutation_p.Y1018C|CLASP2_ENST00000307312.7_Missense_Mutation_p.Y720C|CLASP2_ENST00000399362.4_Missense_Mutation_p.Y1238C			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1019	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATATGGATTATAGTCTCGAGA	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		18439	0.001		0.0	False		,,,				2504	0.0					ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3712-3714)tAt>tGt		cytoplasmic linker associated protein 2							160.0	156.0	158.0					3																	33576820		1982	4163	6145	SO:0001583	missense	23122							g.chr3:33576820T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3716A>G	3.37:g.33576820T>C	ENSP00000419974:p.Tyr1239Cys					CLASP2_ENST00000468888.2_Missense_Mutation_p.Y1239C|CLASP2_ENST00000307312.7_Missense_Mutation_p.Y720C|CLASP2_ENST00000461133.3_Missense_Mutation_p.Y998C|CLASP2_ENST00000480013.1_Missense_Mutation_p.Y1018C|CLASP2_ENST00000359576.5_Missense_Mutation_p.Y1230C|CLASP2_ENST00000539981.1_Missense_Mutation_p.Y1008C	p.Y1238C	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			34	4066	-			1240					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3713A>G		.	.	.	.	.	.	.	.	.	.	T	19.00	3.742550	0.69418	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.20738	2.06;2.06;2.05	5.22	5.22	0.72569	Armadillo-type fold (1);	0.191259	0.47093	D	0.000251	T	0.42944	0.1225	M	0.73217	2.22	0.50171	D	0.999854	D;D;D	0.76494	0.999;0.995;0.996	D;P;D	0.63033	0.91;0.847;0.91	T	0.29852	-0.9998	10	0.41790	T	0.15	-15.2589	15.0909	0.72192	0.0:0.0:0.0:1.0	.	1019;1230;1238	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	C	1239;1238;1230;720;1008;1018;998	ENSP00000419974:Y1239C;ENSP00000382297:Y1238C;ENSP00000352581:Y1230C	ENSP00000304743:Y720C	Y	-	2	0	CLASP2	33551824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	1.981000	0.57761	0.482000	0.46254	TAT		0.448	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		4	32	0	0	0	1	0	4	32				
FAT3	120114	broad.mit.edu	37	11	92085509	92085509	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:92085509G>C	ENST00000298047.6	+	1	248	c.231G>C	c.(229-231)tgG>tgC	p.W77C	FAT3_ENST00000409404.2_Missense_Mutation_p.W77C|FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000541502.1_Missense_Mutation_p.W77C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTATCCTGGGATATCAAAT	0.413										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(229-231)tgG>tgC		FAT atypical cadherin 3							87.0	87.0	87.0					11																	92085509		1909	4125	6034	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085509G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.231G>C	11.37:g.92085509G>C	ENSP00000298047:p.Trp77Cys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.W77C|FAT3_ENST00000541502.1_Missense_Mutation_p.W77C	p.W77C			Q8TDW7	FAT3_HUMAN			1	248	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	77			Cadherin 1.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.231G>C		.	.	.	.	.	.	.	.	.	.	G	18.17	3.564195	0.65651	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.60920	0.15;0.15;0.15	5.41	5.41	0.78517	.	.	.	.	.	T	0.75496	0.3857	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.74077	-0.3781	9	0.39692	T	0.17	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	77	Q8TDW7-3	.	C	77	ENSP00000298047:W77C;ENSP00000387040:W77C;ENSP00000443786:W77C	ENSP00000298047:W77C	W	+	3	0	FAT3	91725157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.897000	0.87356	2.696000	0.92011	0.655000	0.94253	TGG		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	56	0	0	0	1	0	4	56				
CTNNA2	1496	broad.mit.edu	37	2	80801427	80801427	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:80801427G>T	ENST00000402739.4	+	12	1886	c.1881G>T	c.(1879-1881)gtG>gtT	p.V627V	CTNNA2_ENST00000540488.1_Silent_p.V627V|CTNNA2_ENST00000466387.1_Silent_p.V627V|CTNNA2_ENST00000496558.1_Silent_p.V627V|CTNNA2_ENST00000343114.3_Silent_p.V306V|CTNNA2_ENST00000361291.4_Silent_p.V661V|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Silent_p.V627V|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	627					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAGGCTGTGCTGATGATCA	0.463																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1879-1881)gtG>gtT		catenin (cadherin-associated protein), alpha 2							151.0	144.0	147.0					2																	80801427		2136	4269	6405	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801427G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1881G>T	2.37:g.80801427G>T						CTNNA2_ENST00000402739.4_Silent_p.V627V|CTNNA2_ENST00000541047.1_Silent_p.V627V|CTNNA2_ENST00000540488.1_Silent_p.V627V|CTNNA2_ENST00000496558.1_Silent_p.V627V|CTNNA2_ENST00000343114.3_Silent_p.V306V|CTNNA2_ENST00000361291.4_Silent_p.V661V	p.V627V			P26232	CTNA2_HUMAN			17	2605	+			627					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1881G>T																																																																																					0.463	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		5	71	1	0	0.000602214	1	0.000725341	5	71				
TTN	7273	broad.mit.edu	37	2	179516625	179516625	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179516625G>C	ENST00000591111.1	-	160	35068	c.34844C>G	c.(34843-34845)gCg>gGg	p.A11615G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A13122G|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10688G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	11615	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)			TGGAGGCGCCGCTGGCTCTGG	0.527																																						ENST00000589042.1																			0				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						c.(39364-39366)gCg>gGg		titin							29.0	30.0	30.0					2																	179516625		1916	4131	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516625G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34844C>G	2.37:g.179516625G>C	ENSP00000465570:p.Ala11615Gly					TTN_ENST00000591111.1_Missense_Mutation_p.A11615G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10688G|TTN_ENST00000359218.5_Intron	p.A13122G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		205	39589	-			11475			Ig-like 87.		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.39365C>G		.	.	.	.	.	.	.	.	.	.	G	9.233	1.036230	0.19669	.	.	ENSG00000155657	ENST00000342992	T	0.63580	-0.05	5.61	0.398	0.16319	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.53190	0.1781	L	0.59436	1.845	0.09310	N	1	B	0.14805	0.011	B	0.17098	0.017	T	0.50676	-0.8800	9	0.87932	D	0	.	4.1943	0.10437	0.2791:0.0:0.3786:0.3423	.	11615	Q8WZ42	TITIN_HUMAN	G	10688	ENSP00000343764:A10688G	ENSP00000343764:A10688G	A	-	2	0	TTN	179224870	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.113000	0.10774	-0.214000	0.10078	-0.979000	0.02580	GCG		0.527	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	8	0	0	0	1	0	3	8				
RIMBP3	85376	broad.mit.edu	37	22	20460137	20460137	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:20460137G>T	ENST00000426804.1	-	1	1649	c.1165C>A	c.(1165-1167)Cgc>Agc	p.R389S		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	389										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TAACAGCGGCGCGCCAGCACC	0.652																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1165-1167)Cgc>Agc		RIMS binding protein 3							15.0	14.0	15.0					22																	20460137		1096	1651	2747	SO:0001583	missense	85376							g.chr22:20460137G>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1165C>A	22.37:g.20460137G>T	ENSP00000391564:p.Arg389Ser						p.R389S	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	1649	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.1165C>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	g	15.93	2.979516	0.53827	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.24350	1.86	2.64	2.64	0.31445	.	0.274115	0.25433	U	0.030710	T	0.24509	0.0594	L	0.50333	1.59	0.25198	N	0.990072	P	0.36199	0.543	B	0.37267	0.245	T	0.23154	-1.0196	10	0.72032	D	0.01	-4.4351	11.4759	0.50297	0.0:0.0:1.0:0.0	.	295	Q9UFD9	RIM3A_HUMAN	S	295;389	ENSP00000391564:R389S	ENSP00000347318:R295S	R	-	1	0	RIMBP3	18840137	0.018000	0.18449	0.048000	0.18961	0.006000	0.05464	1.886000	0.39688	1.793000	0.52555	0.423000	0.28283	CGC		0.652	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		3	21	1	0	0.115264	1	0.120372	3	21				
FZD1	8321	broad.mit.edu	37	7	90895604	90895604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:90895604G>T	ENST00000287934.2	+	1	1822	c.1409G>T	c.(1408-1410)gGc>gTc	p.G470V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	470					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGGTGGACGGCGATGTGCTG	0.627																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1408-1410)gGc>gTc		frizzled family receptor 1							147.0	131.0	136.0					7																	90895604		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895604G>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1409G>T	7.37:g.90895604G>T	ENSP00000287934:p.Gly470Val						p.G470V	NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1822	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		470					A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1409G>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055049	0.75960	.	.	ENSG00000157240	ENST00000287934	D	0.87179	-2.22	4.52	4.52	0.55395	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000006	D	0.95201	0.8444	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96553	0.9409	10	0.87932	D	0	.	17.4373	0.87555	0.0:0.0:1.0:0.0	.	470	Q9UP38	FZD1_HUMAN	V	470	ENSP00000287934:G470V	ENSP00000287934:G470V	G	+	2	0	FZD1	90733540	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	9.657000	0.98554	2.352000	0.79861	0.462000	0.41574	GGC		0.627	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		8	95	1	0	1.12685e-05	1	1.55492e-05	8	95				
RBFOX1	54715	broad.mit.edu	37	16	7726776	7726776	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:7726776G>C	ENST00000550418.1	+	14	1919	c.931G>C	c.(931-933)Ggt>Cgt	p.G311R	RBFOX1_ENST00000436368.2_Splice_Site_p.G332R|RBFOX1_ENST00000340209.4_Splice_Site_p.G316R|RBFOX1_ENST00000535565.2_Splice_Site_p.G268R|RBFOX1_ENST00000355637.4_Splice_Site_p.G332R|RBFOX1_ENST00000553186.1_Splice_Site_p.G284R|RBFOX1_ENST00000552089.1_Splice_Site_p.G328R|RBFOX1_ENST00000547372.1_Splice_Site_p.G354R|RBFOX1_ENST00000547338.1_Splice_Site_p.G311R|RBFOX1_ENST00000422070.4_Splice_Site_p.G354R|RBFOX1_ENST00000311745.5_Splice_Site_p.G332R	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	311					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGTGTTTTAGGGTGGTTATGC	0.537																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.e11-1		RNA binding protein, fox-1 homolog (C. elegans) 1							221.0	146.0	171.0					16																	7726776		2197	4300	6497	SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7726776G>C	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.931-1G>C	16.37:g.7726776G>C						RBFOX1_ENST00000436368.2_Splice_Site_p.G332_splice|RBFOX1_ENST00000422070.4_Splice_Site_p.G354_splice|RBFOX1_ENST00000553186.1_Splice_Site_p.G284_splice|RBFOX1_ENST00000550418.1_Splice_Site_p.G311_splice|RBFOX1_ENST00000535565.2_Splice_Site_p.G268_splice|RBFOX1_ENST00000547338.1_Splice_Site_p.G311_splice|RBFOX1_ENST00000547372.1_Splice_Site_p.G354_splice|RBFOX1_ENST00000552089.1_Splice_Site_p.G328_splice|RBFOX1_ENST00000355637.4_Splice_Site_p.G332_splice|RBFOX1_ENST00000311745.5_Splice_Site_p.G332_splice	p.G316_splice			Q9NWB1	RFOX1_HUMAN			11	1243	+			311					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Splice_Site	SNP	ENST00000550418.1	37	c.945_splice	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306762	0.60305	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.44;1.43;1.3;1.11;1.35;1.53;1.43;1.11	5.43	5.43	0.79202	.	0.102178	0.64402	D	0.000002	T	0.63674	0.2531	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;1.0;0.972;0.997	D;D;D;D;D;D;P;D	0.97110	0.988;0.998;1.0;1.0;0.969;0.999;0.891;0.992	T	0.60286	-0.7293	9	.	.	.	-8.6546	19.2201	0.93793	0.0:0.0:1.0:0.0	.	305;268;354;332;332;332;284;311	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1	.;.;.;.;.;.;.;RFOX1_HUMAN	R	311;284;354;354;268;328;311;332;332;332;305;316	ENSP00000450031:G311R;ENSP00000447753:G284R;ENSP00000446842:G354R;ENSP00000391269:G354R;ENSP00000447717:G311R;ENSP00000402745:G332R;ENSP00000309117:G332R;ENSP00000347855:G332R;ENSP00000344196:G316R	.	G	+	1	0	RBFOX1	7666777	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.331000	0.79192	2.702000	0.92279	0.650000	0.86243	GGT		0.537	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Missense_Mutation	6	38	0	0	0	1	0	6	38				
CSMD1	64478	broad.mit.edu	37	8	2855597	2855597	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:2855597C>A	ENST00000520002.1	-	55	8871	c.8316G>T	c.(8314-8316)caG>caT	p.Q2772H	CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2714H|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2713H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2771H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2714H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2772H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2772	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGACACGCCCTGCAGCAAAT	0.567																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8314-8316)caG>caT		CUB and Sushi multiple domains 1							95.0	95.0	95.0					8																	2855597		2056	4200	6256	SO:0001583	missense	64478					integral to membrane		g.chr8:2855597C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8316G>T	8.37:g.2855597C>A	ENSP00000430733:p.Gln2772His					CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2713H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2771H|CSMD1_ENST00000520002.1_Missense_Mutation_p.Q2772H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2714H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2714H	p.Q2772H			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	55	8871	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2772			Sushi 19.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8316G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.652|8.652	0.898544|0.898544	0.17686|0.17686	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2	6.07|6.07	3.28|3.28	0.37604|0.37604	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.251282	.|0.35870	.|N	.|0.002926	T|T	0.62575|0.62575	0.2439|0.2439	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.67145	.|0.996;0.01;0.082	.|D;B;B	.|0.80764	.|0.994;0.048;0.037	T|T	0.56245|0.56245	-0.8011|-0.8011	5|10	.|0.21540	.|T	.|0.41	.|.	9.2601|9.2601	0.37608|0.37608	0.0:0.7487:0.1211:0.1302|0.0:0.7487:0.1211:0.1302	.|.	.|2772;2772;2713	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	W|H	2189|2714;2772;2633;2771;2713	.|ENSP00000383047:Q2714H;ENSP00000430733:Q2772H;ENSP00000441462:Q2771H;ENSP00000446243:Q2713H	.|ENSP00000320445:Q2633H	G|Q	-|-	1|3	0|2	CSMD1|CSMD1	2843004|2843004	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.213000|0.213000	0.24496|0.24496	0.368000|0.368000	0.20399|0.20399	0.874000|0.874000	0.35823|0.35823	-0.137000|-0.137000	0.14449|0.14449	GGG|CAG		0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	28	1	0	0.00307968	1	0.00354221	8	28				
C8B	732	broad.mit.edu	37	1	57411648	57411648	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:57411648G>T	ENST00000371237.4	-	7	1017	c.951C>A	c.(949-951)ttC>ttA	p.F317L	C8B_ENST00000535057.1_Missense_Mutation_p.F255L|C8B_ENST00000543257.1_Missense_Mutation_p.F265L	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	317	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTCTCTGAAGGAACTCGTAAT	0.483																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(793-795)ttC>ttA		complement component 8, beta polypeptide							92.0	87.0	89.0					1																	57411648		2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57411648G>T	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.951C>A	1.37:g.57411648G>T	ENSP00000360281:p.Phe317Leu					C8B_ENST00000535057.1_Missense_Mutation_p.F255L|C8B_ENST00000371237.4_Missense_Mutation_p.F317L	p.F265L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			8	1361	-			317			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.795C>A	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517629	0.44763	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.89552	-2.53;-2.53;-2.53	4.71	2.79	0.32731	Membrane attack complex component/perforin (MACPF) domain (3);	0.047546	0.85682	N	0.000000	D	0.88764	0.6525	M	0.86028	2.79	0.53005	D	0.999969	B;B;B	0.20550	0.037;0.037;0.046	B;B;B	0.26094	0.039;0.039;0.066	D	0.87195	0.2237	10	0.72032	D	0.01	-10.1873	8.7097	0.34376	0.3082:0.0:0.6918:0.0	.	265;255;317	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	L	317;265;255	ENSP00000360281:F317L;ENSP00000442548:F265L;ENSP00000440113:F255L	ENSP00000360281:F317L	F	-	3	2	C8B	57184236	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.018000	0.30002	1.201000	0.43203	0.655000	0.94253	TTC		0.483	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			5	43	1	0	0.000602214	1	0.000725341	5	43				
KIAA1551	55196	broad.mit.edu	37	12	32134587	32134587	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:32134587A>G	ENST00000312561.4	+	4	1112	c.698A>G	c.(697-699)aAa>aGa	p.K233R	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	233																	ACCATTCAAAAACAAAACTTT	0.373																																						ENST00000312561.4																			0											c.(697-699)aAa>aGa		KIAA1551							57.0	58.0	58.0					12																	32134587		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32134587A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.698A>G	12.37:g.32134587A>G	ENSP00000310338:p.Lys233Arg					KIAA1551_ENST00000535596.1_Intron	p.K233R	NM_018169.3	NP_060639.3					4	1112	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.698A>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	A	14.37	2.513881	0.44763	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.09538	3.61;2.97	5.31	4.15	0.48705	.	0.000000	0.42682	D	0.000676	T	0.18130	0.0435	L	0.32530	0.975	0.22253	N	0.999254	D	0.63046	0.992	P	0.62740	0.906	T	0.04708	-1.0932	9	.	.	.	.	10.8765	0.46915	0.8421:0.1579:0.0:0.0	.	233	Q9HCM1	CL035_HUMAN	R	233	ENSP00000310338:K233R;ENSP00000370442:K233R	.	K	+	2	0	C12orf35	32025854	0.140000	0.22579	0.677000	0.29947	0.020000	0.10135	0.694000	0.25512	0.826000	0.34661	0.528000	0.53228	AAA		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		14	79	0	0	0	1	0	14	79				
SALL1	6299	broad.mit.edu	37	16	51174491	51174491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:51174491G>C	ENST00000251020.4	-	2	1675	c.1642C>G	c.(1642-1644)Ctg>Gtg	p.L548V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.L451V	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	548					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGAGTAGGCAGGACTGGTTTG	0.572																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1351-1353)Ctg>Gtg		spalt-like transcription factor 1							56.0	56.0	56.0					16																	51174491		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174491G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1642C>G	16.37:g.51174491G>C	ENSP00000251020:p.Leu548Val					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L548V	p.L451V	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1782	-		all_cancers(37;0.0322)	548					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1351C>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199657	0.38905	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09445	2.99;2.98	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.56124	1.755	0.58432	D	0.999998	D	0.69078	0.997	D	0.78314	0.991	T	0.01127	-1.1443	10	0.25106	T	0.35	.	9.6817	0.40074	0.1542:0.0:0.8458:0.0	.	548	Q9NSC2	SALL1_HUMAN	V	548;451;512	ENSP00000251020:L548V;ENSP00000407914:L451V	ENSP00000251020:L548V	L	-	1	2	SALL1	49731992	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.841000	0.48223	2.480000	0.83734	0.563000	0.77884	CTG		0.572	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		7	52	0	0	0	1	0	7	52				
HAVCR1	26762	broad.mit.edu	37	5	156482381	156482381	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:156482381G>C	ENST00000339252.3	-	2	742	c.210C>G	c.(208-210)acC>acG	p.T70T	HAVCR1_ENST00000522693.1_Silent_p.T70T|HAVCR1_ENST00000523175.1_Silent_p.T70T|HAVCR1_ENST00000425854.1_Silent_p.T70T|HAVCR1_ENST00000544197.1_Silent_p.T70T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTCCGATAGGTGACGTGGG	0.463																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(208-210)acC>acG		hepatitis A virus cellular receptor 1							90.0	81.0	84.0					5																	156482381		1999	4194	6193	SO:0001819	synonymous_variant	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482381G>C	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.210C>G	5.37:g.156482381G>C						HAVCR1_ENST00000523175.1_Silent_p.T70T|HAVCR1_ENST00000544197.1_Silent_p.T70T|HAVCR1_ENST00000522693.1_Silent_p.T70T|HAVCR1_ENST00000425854.1_Silent_p.T70T	p.T70T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	742	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	70			Ig-like V-type.		O43656	Silent	SNP	ENST00000339252.3	37	c.210C>G	CCDS43392.1																																																																																				0.463	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			6	41	0	0	0	1	0	6	41				
ABCA12	26154	broad.mit.edu	37	2	215840732	215840732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:215840732C>T	ENST00000272895.7	-	34	5377	c.5158G>A	c.(5158-5160)Gat>Aat	p.D1720N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1402N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1720					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCAAAGCCATCCAGCCTCTCT	0.418																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(5158-5160)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 12							93.0	82.0	86.0					2																	215840732		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215840732C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5158G>A	2.37:g.215840732C>T	ENSP00000272895:p.Asp1720Asn					ABCA12_ENST00000389661.4_Missense_Mutation_p.D1402N	p.D1720N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	34	5377	-		Renal(323;0.127)	1720					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.5158G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164895	0.09287	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88046	-2.33;-2.33	5.87	2.13	0.27403	.	0.849435	0.10667	N	0.647998	T	0.75932	0.3917	N	0.19112	0.55	0.25310	N	0.989207	B;B	0.19445	0.036;0.005	B;B	0.24394	0.018;0.053	T	0.60316	-0.7287	10	0.25751	T	0.34	.	5.9595	0.19291	0.0:0.4429:0.1355:0.4215	.	1720;1402	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	1720;1402	ENSP00000272895:D1720N;ENSP00000374312:D1402N	ENSP00000272895:D1720N	D	-	1	0	ABCA12	215548977	0.012000	0.17670	0.016000	0.15963	0.174000	0.22865	0.118000	0.15605	0.187000	0.20147	0.655000	0.94253	GAT		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	30	0	0	0	1	0	5	30				
ACOT6	641372	broad.mit.edu	37	14	74086131	74086131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:74086131C>T	ENST00000381139.1	+	2	543	c.212C>T	c.(211-213)aCt>aTt	p.T71I	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	71						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTAAAAATCACTAAGTCAGGA	0.413																																						ENST00000381139.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(211-213)aCt>aTt		acyl-CoA thioesterase 6							105.0	95.0	98.0					14																	74086131		2203	4300	6503	SO:0001583	missense	641372					cytosol	carboxylesterase activity	g.chr14:74086131C>T	DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.212C>T	14.37:g.74086131C>T	ENSP00000370531:p.Thr71Ile					RP3-414A15.10_ENST00000555011.1_RNA	p.T71I	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	543	+			71						Missense_Mutation	SNP	ENST00000381139.1	37	c.212C>T	CCDS32118.1	.	.	.	.	.	.	.	.	.	.	c	10.30	1.311500	0.23821	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.30981	1.51;1.51	5.71	2.9	0.33743	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.529047	0.20905	N	0.083563	T	0.24586	0.0596	L	0.56769	1.78	0.09310	N	1	B	0.24675	0.109	B	0.20767	0.031	T	0.26744	-1.0094	10	0.46703	T	0.11	-12.7668	3.0234	0.06083	0.2198:0.4814:0.1691:0.1296	.	71	Q3I5F7	ACOT6_HUMAN	I	71	ENSP00000451464:T71I;ENSP00000370531:T71I	ENSP00000370531:T71I	T	+	2	0	ACOT6	73155884	0.001000	0.12720	0.126000	0.21872	0.661000	0.39034	0.604000	0.24164	0.336000	0.23639	0.556000	0.70494	ACT		0.413	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1	NM_001037162		9	56	0	0	0	1	0	9	56				
NCAM2	4685	broad.mit.edu	37	21	22841059	22841059	+	Missense_Mutation	SNP	C	C	A	rs371587120		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr21:22841059C>A	ENST00000400546.1	+	14	2100	c.1851C>A	c.(1849-1851)gaC>gaA	p.D617E	NCAM2_ENST00000284894.7_Missense_Mutation_p.D475E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	617	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAAACAGGACGATGGAGGGG	0.378																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1849-1851)gaC>gaA		neural cell adhesion molecule 2							120.0	116.0	117.0					21																	22841059		1866	4090	5956	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22841059C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1851C>A	21.37:g.22841059C>A	ENSP00000383392:p.Asp617Glu					NCAM2_ENST00000284894.7_Missense_Mutation_p.D475E	p.D617E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	14	2100	+		Lung NSC(9;0.195)	617			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1851C>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771028	0.31320	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.55588	0.51;0.51	5.75	-0.664	0.11406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.086238	0.85682	D	0.000000	T	0.64649	0.2617	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.63341	-0.6659	10	0.56958	D	0.05	-28.3977	10.3471	0.43911	0.0:0.3018:0.0:0.6982	.	475;617	B7Z5K2;O15394	.;NCAM2_HUMAN	E	617;475	ENSP00000383392:D617E;ENSP00000284894:D475E	ENSP00000284894:D475E	D	+	3	2	NCAM2	21762930	0.990000	0.36364	0.994000	0.49952	0.001000	0.01503	0.149000	0.16243	-0.109000	0.12044	-2.240000	0.00288	GAC		0.378	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		4	25	1	0	0.00909568	1	0.00998677	4	25				
C1QL2	165257	broad.mit.edu	37	2	119914425	119914425	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:119914425T>C	ENST00000272520.3	-	2	1436	c.817A>G	c.(817-819)Aat>Gat	p.N273D		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	273	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TACTTGTTATTATTGCCTCCG	0.617										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(817-819)Aat>Gat		complement component 1, q subcomponent-like 2							158.0	170.0	166.0					2																	119914425		2193	4295	6488	SO:0001583	missense	165257					collagen		g.chr2:119914425T>C	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.817A>G	2.37:g.119914425T>C	ENSP00000272520:p.Asn273Asp	HNSCC(49;0.14)					p.N273D	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			2	1436	-			273			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.817A>G	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037425	0.93630	.	.	ENSG00000144119	ENST00000272520	T	0.74632	-0.86	4.95	4.95	0.65309	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	N	0.12961	0.28	0.54753	D	0.999982	D	0.64830	0.994	D	0.67231	0.95	T	0.72865	-0.4163	9	.	.	.	.	13.8152	0.63287	0.0:0.0:0.0:1.0	.	273	Q7Z5L3	C1QL2_HUMAN	D	273	ENSP00000272520:N273D	.	N	-	1	0	C1QL2	119630895	1.000000	0.71417	0.970000	0.41538	0.963000	0.63663	8.033000	0.88852	1.852000	0.53769	0.459000	0.35465	AAT		0.617	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		6	70	0	0	0	1	0	6	70				
TXK	7294	broad.mit.edu	37	4	48097200	48097200	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:48097200A>T	ENST00000264316.4	-	7	626	c.541T>A	c.(541-543)Tta>Ata	p.L181I	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	181	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGATCCTAAATGTCTTGAA	0.343																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(541-543)Tta>Ata		TXK tyrosine kinase							126.0	122.0	124.0					4																	48097200		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48097200A>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.541T>A	4.37:g.48097200A>T	ENSP00000264316:p.Leu181Ile					TXK_ENST00000510457.1_5'UTR	p.L181I	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			7	626	-			181			SH2.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.541T>A	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753708	0.49362	.	.	ENSG00000074966	ENST00000264316	D	0.88509	-2.39	5.23	-0.137	0.13469	SH2 motif (5);	0.366621	0.21806	N	0.068850	T	0.73776	0.3630	N	0.19112	0.55	0.80722	D	1	P	0.47191	0.891	B	0.36030	0.216	T	0.67209	-0.5728	10	0.56958	D	0.05	.	5.033	0.14419	0.3904:0.2932:0.3164:0.0	.	181	P42681	TXK_HUMAN	I	181	ENSP00000264316:L181I	ENSP00000264316:L181I	L	-	1	2	TXK	47791957	0.000000	0.05858	0.998000	0.56505	0.995000	0.86356	0.403000	0.20982	0.106000	0.17784	0.477000	0.44152	TTA		0.343	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		9	24	0	0	0	1	0	9	24				
SNURF	8926	broad.mit.edu	37	15	25207307	25207307	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:25207307G>C	ENST00000577949.1	+	2	124	c.61G>C	c.(61-63)Gtg>Ctg	p.V21L	SNURF_ENST00000551312.2_Missense_Mutation_p.V21L|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.V21L|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338094.6_Missense_Mutation_p.V21L|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	21						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		CGTACCAGAGGTGGAAGTCCA	0.453																																						ENST00000338094.6																			0				breast(2)|large_intestine(2)|lung(1)	5						c.(61-63)Gtg>Ctg		SNRPN upstream reading frame							157.0	124.0	135.0					15																	25207307		2203	4300	6503	SO:0001583	missense	8926							g.chr15:25207307G>C		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.61G>C	15.37:g.25207307G>C	ENSP00000463201:p.Val21Leu					SNURF_ENST00000577949.1_Missense_Mutation_p.V21L|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.V21L|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR	p.V21L	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2				all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)	2	122	+		all_cancers(20;1.4e-21)|Breast(32;0.000625)						A6NCW2	Missense_Mutation	SNP	ENST00000577949.1	37	c.61G>C	CCDS10016.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778378	0.31502	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	T	0.47414	0.1444	.	.	.	0.28551	N	0.9116	P	0.42961	0.795	P	0.53988	0.739	T	0.24225	-1.0166	7	0.25106	T	0.35	-3.9561	11.3845	0.49776	0.0:0.0:1.0:0.0	.	21	Q9Y675	SNURF_HUMAN	L	21	.	ENSP00000336543:V21L	V	+	1	0	SNURF	22758400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.559000	0.36320	2.412000	0.81896	0.655000	0.94253	GTG		0.453	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446300.1	NM_005678		4	30	0	0	0	1	0	4	30				
OSBPL8	114882	broad.mit.edu	37	12	76844736	76844736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:76844736G>C	ENST00000261183.3	-	4	591	c.112C>G	c.(112-114)Ctg>Gtg	p.L38V	OSBPL8_ENST00000393249.2_5'UTR|OSBPL8_ENST00000393250.4_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	38					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCTGGTGTCAGAAGCTGAGAT	0.403																																						ENST00000261183.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(112-114)Ctg>Gtg		oxysterol binding protein-like 8							156.0	138.0	144.0					12																	76844736		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76844736G>C	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.112C>G	12.37:g.76844736G>C	ENSP00000261183:p.Leu38Val					OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000393249.2_5'UTR	p.L38V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN			4	591	-			38					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.112C>G	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805408	0.31961	.	.	ENSG00000091039	ENST00000261183;ENST00000446075;ENST00000438913;ENST00000547540;ENST00000548341;ENST00000551927;ENST00000547544	T;T;T	0.14391	2.51;2.51;2.51	5.66	2.21	0.28008	.	0.530450	0.19074	N	0.123438	T	0.06050	0.0157	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34950	-0.9808	10	0.13470	T	0.59	-0.789	1.2694	0.02018	0.2927:0.1431:0.4174:0.1468	.	38	Q9BZF1	OSBL8_HUMAN	V	38;23;38;38;25;38;35	ENSP00000261183:L38V;ENSP00000450238:L38V;ENSP00000446886:L25V	ENSP00000261183:L38V	L	-	1	2	OSBPL8	75368867	1.000000	0.71417	0.942000	0.38095	0.802000	0.45316	0.959000	0.29240	0.126000	0.18424	-0.140000	0.14226	CTG		0.403	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		4	32	0	0	0	1	0	4	32				
PDZRN3	23024	broad.mit.edu	37	3	73453527	73453527	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:73453527G>T	ENST00000263666.4	-	4	1052	c.938C>A	c.(937-939)tCc>tAc	p.S313Y	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S35Y|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S30Y|PDZRN3_ENST00000466780.1_5'UTR|PDZRN3_ENST00000462146.2_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	313	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)		AGTTGCTCTGGATAAGTCTCT	0.458																																						ENST00000263666.4																			0				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						c.(937-939)tCc>tAc		PDZ domain containing ring finger 3							114.0	103.0	107.0					3																	73453527		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73453527G>T	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.938C>A	3.37:g.73453527G>T	ENSP00000263666:p.Ser313Tyr					PDZRN3_ENST00000535920.1_Missense_Mutation_p.S35Y|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S30Y|PDZRN3_ENST00000462146.2_5'UTR|PDZRN3_ENST00000466780.1_5'UTR	p.S313Y	NM_015009.1	NP_055824.1	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)	4	1052	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	313			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.938C>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991411	0.74703	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T	0.52526	1.52;0.66;0.91;0.91	6.07	6.07	0.98685	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.999	T	0.74447	-0.3662	10	0.87932	D	0	.	20.239	0.98366	0.0:0.0:1.0:0.0	.	35;30;30;313	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	Y	313;35;30;313;11	ENSP00000263666:S313Y;ENSP00000442026:S35Y;ENSP00000418624:S30Y;ENSP00000419250:S11Y	ENSP00000263666:S313Y	S	-	2	0	PDZRN3	73536217	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.651000	0.83577	2.884000	0.98904	0.655000	0.94253	TCC		0.458	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		10	45	1	0	0.000442599	1	0.000543056	10	45				
SNX8	29886	broad.mit.edu	37	7	2302892	2302892	+	Silent	SNP	C	C	A	rs145067811	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:2302892C>A	ENST00000222990.3	-	7	930	c.888G>T	c.(886-888)gcG>gcT	p.A296A		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	296					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCGAGCAGCGCGAATTCCA	0.622																																						ENST00000222990.3																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26						c.(886-888)gcG>gcT		sorting nexin 8							65.0	63.0	64.0					7																	2302892		2203	4300	6503	SO:0001819	synonymous_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2302892C>A	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.888G>T	7.37:g.2302892C>A							p.A296A	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	7	930	-		Ovarian(82;0.11)	296					A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	c.888G>T	CCDS5331.1																																																																																				0.622	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			4	25	1	0	1	1	1	4	25				
ZSCAN4	201516	broad.mit.edu	37	19	58190154	58190154	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:58190154C>A	ENST00000318203.5	+	5	1880	c.1183C>A	c.(1183-1185)Cct>Act	p.P395T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	395					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAGAAAAGCCTTATACATG	0.468																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(1183-1185)Cct>Act		zinc finger and SCAN domain containing 4							114.0	124.0	121.0					19																	58190154		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190154C>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1183C>A	19.37:g.58190154C>A	ENSP00000321963:p.Pro395Thr						p.P395T	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1880	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	395					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.1183C>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964168	0.74131	.	.	ENSG00000180532	ENST00000318203	T	0.16897	2.31	4.88	4.88	0.63580	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144833	0.32548	N	0.005956	T	0.46870	0.1415	M	0.83852	2.665	0.43868	D	0.996477	D	0.89917	1.0	D	0.97110	1.0	T	0.51044	-0.8755	10	0.72032	D	0.01	-27.2385	17.3303	0.87261	0.0:1.0:0.0:0.0	.	395	Q8NAM6	ZSCA4_HUMAN	T	395	ENSP00000321963:P395T	ENSP00000321963:P395T	P	+	1	0	ZSCAN4	62881966	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	6.171000	0.71926	2.699000	0.92147	0.650000	0.86243	CCT		0.468	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		11	81	1	0	3.86212e-05	1	5.09224e-05	11	81				
OR9G4	283189	broad.mit.edu	37	11	56511255	56511255	+	Silent	SNP	G	G	A	rs61735257	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:56511255G>A	ENST00000302957.3	-	1	32	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCACGGAGGTGAAAGCCTGAC	0.413													G|||	22	0.00439297	0.0166	0.0	5008	,	,		17161	0.0		0.0	False		,,,				2504	0.0					ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(31-33)ttC>ttT		olfactory receptor, family 9, subfamily G, member 4		G		35,4367	39.2+/-71.8	0,35,2166	86.0	81.0	83.0		33	1.3	0.0	11	dbSNP_129	83	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	OR9G4	NM_001005284.1		0,37,6460	AA,AG,GG		0.0233,0.7951,0.2847		11/328	56511255	37,12957	2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511255G>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.33C>T	11.37:g.56511255G>A							p.F11F	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	32	-			11					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.33C>T	CCDS31537.1																																																																																				0.413	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		9	63	0	0	0	1	0	9	63				
FOXI3	344167	broad.mit.edu	37	2	88751557	88751557	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:88751557G>T	ENST00000398142.3	-	0	574							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						GGCTGAGAGTGAGTTTGCGCT	0.627																																					Pancreas(81;472 1448 16397 17495 22123)	ENST00000398142.3																			0				NS(1)|endometrium(1)	2								forkhead box I3							30.0	37.0	35.0					2																	88751557		692	1591	2283			344167				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:88751557G>T	BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88751557G>T										A8MTJ6	FOXI3_HUMAN			0	574	-								B5RI09	RNA	SNP	ENST00000398142.3	37																																																																																						0.627	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000338241.2	NM_001135649		3	12	1	0	0.004672	1	0.00531382	3	12				
DNAH9	1770	broad.mit.edu	37	17	11687677	11687677	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:11687677A>G	ENST00000262442.4	+	41	7950	c.7882A>G	c.(7882-7884)Agc>Ggc	p.S2628G	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2628G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2628	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			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)		CTCTATCTACAGCATCATCCT	0.557																																						ENST00000262442.3																			0				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						c.(7882-7884)Agc>Ggc		dynein, axonemal, heavy chain 9							207.0	196.0	200.0					17																	11687677		2203	4300	6503	SO:0001583	missense	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.chr17:11687677A>G	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.7882A>G	17.37:g.11687677A>G	ENSP00000262442:p.Ser2628Gly					DNAH9_ENST00000454412.2_Missense_Mutation_p.S2628G	p.S2628G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7950	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2628			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7882A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787598	0.31593	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.37752	1.18;1.18	5.56	3.32	0.38043	.	0.138717	0.64402	D	0.000004	T	0.17662	0.0424	N	0.17872	0.535	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.15235	-1.0444	10	0.02654	T	1	.	7.7642	0.28970	0.808:0.0:0.0679:0.1241	.	2628	Q9NYC9	DYH9_HUMAN	G	2628;2628;1210	ENSP00000262442:S2628G;ENSP00000414874:S2628G	ENSP00000262442:S2628G	S	+	1	0	DNAH9	11628402	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.233000	0.58651	0.383000	0.24910	0.523000	0.50628	AGC		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		22	128	0	0	0	1	0	22	128				
LCE2C	353140	broad.mit.edu	37	1	152648545	152648545	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:152648545C>A	ENST00000368783.1	+	2	109	c.54C>A	c.(52-54)ccC>ccA	p.P18P	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	18	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgtcctcccaagtgtaccc	0.522																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(52-54)ccC>ccA		late cornified envelope 2C							106.0	114.0	112.0					1																	152648545		2203	4298	6501	SO:0001819	synonymous_variant	353140				keratinization			g.chr1:152648545C>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.54C>A	1.37:g.152648545C>A						LCE2B_ENST00000417924.2_Intron	p.P18P	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	109	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		18			Cys-rich.			Silent	SNP	ENST00000368783.1	37	c.54C>A	CCDS1019.1																																																																																				0.522	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		7	68	1	0	0.00198382	1	0.00230193	7	68				
SOX13	9580	broad.mit.edu	37	1	204092250	204092250	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:204092250G>T	ENST00000367204.1	+	11	1254	c.1145G>T	c.(1144-1146)aGc>aTc	p.S382I		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	382					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GACCTCATCAGCCTGGACTCA	0.617																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(1144-1146)aGc>aTc		SRY (sex determining region Y)-box 13							76.0	84.0	81.0					1																	204092250		2119	4231	6350	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204092250G>T		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1145G>T	1.37:g.204092250G>T	ENSP00000356172:p.Ser382Ile						p.S382I	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		11	1254	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		382					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.1145G>T	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557420	0.45590	.	.	ENSG00000143842	ENST00000367204	D	0.97976	-4.64	5.05	2.76	0.32466	.	0.252999	0.43919	D	0.000518	D	0.95027	0.8390	L	0.50333	1.59	0.28303	N	0.923046	B;B;P	0.34780	0.257;0.257;0.468	B;B;B	0.32289	0.049;0.049;0.143	D	0.91805	0.5455	10	0.66056	D	0.02	.	10.8619	0.46831	0.1833:0.0:0.8167:0.0	.	249;249;382	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	I	382	ENSP00000356172:S382I	ENSP00000356172:S382I	S	+	2	0	SOX13	202358873	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.085000	0.30840	1.096000	0.41439	0.462000	0.41574	AGC		0.617	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		8	57	1	0	0.000157383	1	0.000199497	8	57				
B3GNT7	93010	broad.mit.edu	37	2	232262911	232262911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:232262911C>T	ENST00000287590.5	+	2	742	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	161					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGGCCGCGAGCGGCAGTCCGC	0.706																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(481-483)Cgg>Tgg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							11.0	13.0	12.0					2																	232262911		1880	4072	5952	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262911C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.481C>T	2.37:g.232262911C>T	ENSP00000287590:p.Arg161Trp					B3GNT7_ENST00000479618.1_3'UTR	p.R161W	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	742	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	161					B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.481C>T	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	8.950	0.968055	0.18659	.	.	ENSG00000156966	ENST00000287590	T	0.47177	0.85	5.2	2.14	0.27477	.	0.495899	0.23391	N	0.048699	T	0.37156	0.0993	M	0.62209	1.925	0.25741	N	0.985161	B	0.14438	0.01	B	0.12156	0.007	T	0.40175	-0.9577	10	0.51188	T	0.08	.	0.8732	0.01218	0.28:0.3748:0.1366:0.2086	.	161	Q8NFL0	B3GN7_HUMAN	W	161	ENSP00000287590:R161W	ENSP00000287590:R161W	R	+	1	2	B3GNT7	231971155	0.998000	0.40836	0.037000	0.18230	0.184000	0.23303	1.902000	0.39848	0.096000	0.17463	-0.137000	0.14449	CGG		0.706	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		7	22	0	0	0	1	0	7	22				
EXPH5	23086	broad.mit.edu	37	11	108381606	108381606	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:108381606C>A	ENST00000265843.4	-	6	4738	c.4628G>T	c.(4627-4629)aGa>aTa	p.R1543I	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1536I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1467I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1355I|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1543					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)		CTCCTGACTTCTTTGAGGTAA	0.428																																						ENST00000265843.4																			0				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						c.(4627-4629)aGa>aTa		exophilin 5							74.0	71.0	72.0					11																	108381606		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381606C>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.4628G>T	11.37:g.108381606C>A	ENSP00000265843:p.Arg1543Ile					EXPH5_ENST00000443411.1_Missense_Mutation_p.R1355I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1467I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1536I	p.R1543I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_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	4738	-		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)	1543					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4628G>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878640	0.51801	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03272	4.21;4.14;3.99;4.21;4.06	5.85	-4.82	0.03171	.	1.267110	0.04905	N	0.451998	T	0.06371	0.0164	M	0.63428	1.95	0.09310	N	1	P	0.48503	0.911	P	0.44811	0.461	T	0.40175	-0.9577	10	0.48119	T	0.1	0.4942	8.8141	0.34985	0.0:0.3149:0.1775:0.5076	.	1543	Q8NEV8	EXPH5_HUMAN	I	1543;1467;1355;1536;1467	ENSP00000265843:R1543I;ENSP00000391966:R1467I;ENSP00000411390:R1355I;ENSP00000432546:R1536I;ENSP00000432683:R1467I	ENSP00000265843:R1543I	R	-	2	0	EXPH5	107886816	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.139000	0.10358	-0.692000	0.05128	-0.136000	0.14681	AGA		0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		8	62	1	0	5.18039e-06	1	7.33556e-06	8	62				
C10orf71	118461	broad.mit.edu	37	10	50532551	50532551	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:50532551C>G	ENST00000374144.3	+	3	2249	c.1961C>G	c.(1960-1962)cCt>cGt	p.P654R	C10orf71_ENST00000323868.4_Missense_Mutation_p.P654R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	654										endometrium(1)	1						AATAGGGATCCTGAGCCTGGA	0.572																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1960-1962)cCt>cGt		chromosome 10 open reading frame 71							25.0	28.0	27.0					10																	50532551		1870	4120	5990	SO:0001583	missense	118461							g.chr10:50532551C>G	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1961C>G	10.37:g.50532551C>G	ENSP00000363259:p.Pro654Arg					C10orf71_ENST00000323868.4_Missense_Mutation_p.P654R	p.P654R			Q711Q0	CJ071_HUMAN			3	2249	+			654					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1961C>G	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456381	0.26161	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14516	2.5;3.58	5.63	1.17	0.20885	.	1.372190	0.05298	N	0.522459	T	0.10165	0.0249	L	0.36672	1.1	0.09310	N	1	P	0.37276	0.589	B	0.32211	0.142	T	0.31586	-0.9938	10	0.33940	T	0.23	.	4.8853	0.13699	0.1528:0.4962:0.0:0.3511	.	654	Q711Q0-3	.	R	654	ENSP00000318713:P654R;ENSP00000363259:P654R	ENSP00000318713:P654R	P	+	2	0	C10orf71	50202557	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.076000	0.14712	0.333000	0.23563	0.591000	0.81541	CCT		0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		6	11	0	0	0	1	0	6	11				
WFIKKN2	124857	broad.mit.edu	37	17	48917855	48917855	+	Nonsense_Mutation	SNP	G	G	A	rs148609730		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:48917855G>A	ENST00000311378.4	+	2	1734	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*	WFIKKN2_ENST00000426127.1_Nonsense_Mutation_p.W309*|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	402	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CGCCTCGCTGGGCTTACAACA	0.652																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1204-1206)tgG>tgA		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							36.0	36.0	36.0					17																	48917855		2203	4300	6503	SO:0001587	stop_gained	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917855G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1206G>A	17.37:g.48917855G>A	ENSP00000311184:p.Trp402*					WFIKKN2_ENST00000426127.1_Nonsense_Mutation_p.W309*|RP11-506D12.5_ENST00000572491.2_RNA	p.W402*	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1734	+			402			BPTI/Kunitz inhibitor 2.		Q6UXZ9	Nonsense_Mutation	SNP	ENST00000311378.4	37	c.1206G>A	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	41	9.062880	0.99053	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	.	.	.	5.53	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1855	0.48653	0.069:0.1284:0.8026:0.0	.	.	.	.	X	309;402;108	.	ENSP00000311184:W402X	W	+	3	0	WFIKKN2	46272854	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.851000	0.99511	0.698000	0.31739	0.561000	0.74099	TGG		0.652	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		7	41	0	0	0	1	0	7	41				
LHX9	56956	broad.mit.edu	37	1	197890699	197890699	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197890699T>G	ENST00000367387.4	+	3	1068	c.643T>G	c.(643-645)Tac>Gac	p.Y215D	LHX9_ENST00000367391.1_Missense_Mutation_p.Y206D|LHX9_ENST00000337020.2_Missense_Mutation_p.Y215D|LHX9_ENST00000367390.3_Missense_Mutation_p.Y206D|LHX9_ENST00000561173.1_Missense_Mutation_p.Y221D	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	215					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GGCCCTGCCTTACTTCAACGG	0.642																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(616-618)Tac>Gac		LIM homeobox 9							28.0	28.0	28.0					1																	197890699		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890699T>G	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.643T>G	1.37:g.197890699T>G	ENSP00000356357:p.Tyr215Asp					LHX9_ENST00000367391.1_Missense_Mutation_p.Y206D|LHX9_ENST00000367387.4_Missense_Mutation_p.Y215D|LHX9_ENST00000337020.2_Missense_Mutation_p.Y215D|LHX9_ENST00000561173.1_Missense_Mutation_p.Y221D	p.Y206D	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			4	643	+			215					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.616T>G	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663532	0.47572	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.88818	0.56;-2.41;0.46;-2.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	M	0.77103	2.36	0.80722	D	1	P;D;P	0.53151	0.904;0.958;0.823	P;P;P	0.57548	0.616;0.823;0.516	D	0.92206	0.5772	10	0.36615	T	0.2	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	215;206;206	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	D	206;206;215;215	ENSP00000356361:Y206D;ENSP00000356360:Y206D;ENSP00000337969:Y215D;ENSP00000356357:Y215D	ENSP00000337969:Y215D	Y	+	1	0	LHX9	196157322	1.000000	0.71417	0.996000	0.52242	0.248000	0.25809	5.825000	0.69286	2.371000	0.80710	0.533000	0.62120	TAC		0.642	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		4	23	0	0	0	1	0	4	23				
ATP10B	23120	broad.mit.edu	37	5	160097625	160097625	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:160097625C>A	ENST00000327245.5	-	7	1366	c.520G>T	c.(520-522)Gac>Tac	p.D174Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	174					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGATGAAGTCTCCCACGCGC	0.478																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(520-522)Gac>Tac		ATPase, class V, type 10B							144.0	146.0	146.0					5																	160097625		2029	4195	6224	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160097625C>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.520G>T	5.37:g.160097625C>A	ENSP00000313600:p.Asp174Tyr						p.D174Y	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1366	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	174					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.520G>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316243	0.81469	.	.	ENSG00000118322	ENST00000327245	D	0.97598	-4.45	5.13	5.13	0.70059	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.99573	4.635	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.992;0.994;0.991;1.0	D	0.98463	1.0597	9	.	.	.	.	17.9579	0.89075	0.0:1.0:0.0:0.0	.	218;174;146;174	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Y	174	ENSP00000313600:D174Y	.	D	-	1	0	ATP10B	160030203	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.684000	0.84104	2.553000	0.86117	0.585000	0.79938	GAC		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		7	70	1	0	0.00198382	1	0.00230193	7	70				
DEFB110	245913	broad.mit.edu	37	6	49986794	49986794	+	Missense_Mutation	SNP	C	C	G	rs145542651		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:49986794C>G	ENST00000371148.2	-	2	145	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	34					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATTCTGCACTCTCTCCTCAAG	0.388																																						ENST00000371148.2																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(100-102)Gag>Cag		defensin, beta 110 locus		C	GLN/GLU,	1,4405	2.1+/-5.4	0,1,2202	175.0	159.0	164.0		100,	0.7	1.0	6	dbSNP_134	164	0,8600		0,0,4300	no	missense,intron	DEFB110	NM_001037497.1,NM_001037728.2	29,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,	34/68,	49986794	1,13005	2203	4300	6503	SO:0001583	missense	245913				defense response to bacterium	extracellular region		g.chr6:49986794C>G	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.100G>C	6.37:g.49986794C>G	ENSP00000360190:p.Glu34Gln					DEFB110_ENST00000393660.2_Intron	p.E34Q	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN			2	145	-	Lung NSC(77;0.042)		34					Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	37	c.100G>C	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536101	0.13188	2.27E-4	0.0	ENSG00000203970	ENST00000371148	T	0.21734	1.99	4.77	0.742	0.18341	.	0.574324	0.15815	N	0.243293	T	0.04137	0.0115	.	.	.	0.19300	N	0.999976	B	0.23806	0.091	B	0.27262	0.078	T	0.44314	-0.9336	8	.	.	.	-1.6262	8.2153	0.31507	0.0:0.4511:0.4594:0.0895	.	34	Q30KQ9	DB110_HUMAN	Q	34	ENSP00000360190:E34Q	.	E	-	1	0	DEFB110	50094753	0.001000	0.12720	0.981000	0.43875	0.262000	0.26303	-0.583000	0.05807	0.197000	0.20387	0.655000	0.94253	GAG		0.388	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		4	57	0	0	0	1	0	4	57				
SLC16A7	9194	broad.mit.edu	37	12	60169119	60169119	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:60169119G>A	ENST00000261187.4	+	4	1207	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	SLC16A7_ENST00000543448.1_Missense_Mutation_p.G249D|SLC16A7_ENST00000552432.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G348D	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	348					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	GTATTTTTTGGCCTTGGATTT	0.458																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1042-1044)gGc>gAc		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						189.0	175.0	180.0					12																	60169119		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169119G>A	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1043G>A	12.37:g.60169119G>A	ENSP00000261187:p.Gly348Asp					SLC16A7_ENST00000543448.1_Missense_Mutation_p.G249D|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G348D|SLC16A7_ENST00000552432.1_Missense_Mutation_p.G348D	p.G348D	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1207	+			348					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.1043G>A	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035824	0.93630	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90660	0.4589	9	.	.	.	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	348	O60669	MOT2_HUMAN	D	348;348;348;348;348;249	ENSP00000449547:G348D;ENSP00000448071:G348D;ENSP00000448742:G348D;ENSP00000446722:G348D;ENSP00000261187:G348D;ENSP00000443731:G249D	.	G	+	2	0	SLC16A7	58455386	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	2.880000	0.98712	0.650000	0.86243	GGC		0.458	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		8	90	0	0	0	1	0	8	90				
DOCK1	1793	broad.mit.edu	37	10	128829952	128829952	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:128829952G>T	ENST00000280333.6	+	17	1709	c.1600G>T	c.(1600-1602)Gtc>Ttc	p.V534F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	534	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTAGCATTTGTCAAGCTGAT	0.353																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(1600-1602)Gtc>Ttc		dedicator of cytokinesis 1							168.0	168.0	168.0					10																	128829952		1912	4117	6029	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128829952G>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1600G>T	10.37:g.128829952G>T	ENSP00000280333:p.Val534Phe						p.V534F	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	17	1709	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	534			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1600G>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.671447	0.88348	.	.	ENSG00000150760	ENST00000280333	T	0.15256	2.44	4.11	4.11	0.48088	.	0.070589	0.56097	D	0.000032	T	0.50171	0.1600	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.63238	-0.6682	10	0.87932	D	0	.	17.6591	0.88187	0.0:0.0:1.0:0.0	.	534;534	B2RUU3;Q14185	.;DOCK1_HUMAN	F	534	ENSP00000280333:V534F	ENSP00000280333:V534F	V	+	1	0	DOCK1	128719942	1.000000	0.71417	0.982000	0.44146	0.948000	0.59901	9.595000	0.98260	2.565000	0.86533	0.655000	0.94253	GTC		0.353	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		16	47	1	0	1.45105e-14	1	2.45132e-14	16	47				
OR2AE1	81392	broad.mit.edu	37	7	99473722	99473722	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99473722C>A	ENST00000316368.2	-	1	958	c.935G>T	c.(934-936)tGc>tTc	p.C312F		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	312						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(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCGTTGAATGCACTGGGTGAT	0.403																																						ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(934-936)tGc>tTc		olfactory receptor, family 2, subfamily AE, member 1							109.0	113.0	112.0					7																	99473722		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99473722C>A	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.935G>T	7.37:g.99473722C>A	ENSP00000313936:p.Cys312Phe						p.C312F	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	958	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		312					B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.935G>T	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.192654	0.01607	.	.	ENSG00000244623	ENST00000316368	T	0.00599	6.3	3.46	1.4	0.22301	.	2.119760	0.03761	U	0.258100	T	0.00440	0.0014	N	0.08118	0	0.09310	N	1	B	0.24618	0.107	B	0.13407	0.009	T	0.42515	-0.9447	10	0.49607	T	0.09	.	4.857	0.13564	0.2072:0.658:0.0:0.1348	.	312	Q8NHA4	O2AE1_HUMAN	F	312	ENSP00000313936:C312F	ENSP00000313936:C312F	C	-	2	0	OR2AE1	99311658	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	0.006000	0.13152	0.337000	0.23665	0.494000	0.49563	TGC		0.403	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			10	84	1	0	0.000442599	1	0.000543056	10	84				
PRKDC	5591	broad.mit.edu	37	8	48706909	48706909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:48706909C>T	ENST00000314191.2	-	75	10665	c.10609G>A	c.(10609-10611)Gaa>Aaa	p.E3537K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E3537K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3538	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)	GAATAGCTTTCGCTGCTTATG	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				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						c.(10609-10611)Gaa>Aaa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							88.0	80.0	83.0					8																	48706909		1867	4096	5963	SO:0001583	missense	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.chr8:48706909C>T		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.10609G>A	8.37:g.48706909C>T	ENSP00000313420:p.Glu3537Lys					PRKDC_ENST00000338368.3_Missense_Mutation_p.E3537K|PRKDC_ENST00000523565.1_5'UTR	p.E3537K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			75	10665	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3538			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.10609G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.503796	0.96371	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02579	4.29;4.24	5.86	5.86	0.93980	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.80183	2.485	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.52793	0.709;0.709	T	0.00657	-1.1623	10	0.39692	T	0.17	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	3537;3538	E7EUY0;P78527	.;PRKDC_HUMAN	K	3537	ENSP00000313420:E3537K;ENSP00000345182:E3537K	ENSP00000313420:E3537K	E	-	1	0	PRKDC	48869462	1.000000	0.71417	0.947000	0.38551	0.852000	0.48524	7.430000	0.80321	2.776000	0.95493	0.655000	0.94253	GAA		0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	19	0	0	0	1	0	7	19				
CCSER1	401145	broad.mit.edu	37	4	91230449	91230449	+	Silent	SNP	G	G	C	rs370616330		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:91230449G>C	ENST00000509176.1	+	2	1302	c.1014G>C	c.(1012-1014)ccG>ccC	p.P338P	CCSER1_ENST00000333691.8_Silent_p.P338P|CCSER1_ENST00000432775.2_Silent_p.P338P	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	338																	ATTCATTACCGGAAACCTCTG	0.428																																						ENST00000509176.1																			0											c.(1012-1014)ccG>ccC		coiled-coil serine-rich protein 1							99.0	93.0	95.0					4																	91230449		1862	4101	5963	SO:0001819	synonymous_variant	401145							g.chr4:91230449G>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1014G>C	4.37:g.91230449G>C						CCSER1_ENST00000432775.2_Silent_p.P338P|CCSER1_ENST00000333691.8_Silent_p.P338P	p.P338P	NM_001145065.1	NP_001138537.1					2	1302	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1014G>C	CCDS47099.1																																																																																				0.428	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		11	59	0	0	0	1	0	11	59				
ATP1A3	478	broad.mit.edu	37	19	42482334	42482334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42482334G>A	ENST00000302102.5	-	13	1925	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A603V|ATP1A3_ENST00000545399.1_Missense_Mutation_p.A605V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A562V	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	592					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTTGCCCACCGCGTCAGGGAC	0.617																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(1813-1815)gCg>gTg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							61.0	60.0	60.0					19																	42482334		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42482334G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1775C>T	19.37:g.42482334G>A	ENSP00000302397:p.Ala592Val					ATP1A3_ENST00000602133.1_Missense_Mutation_p.A562V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A603V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A592V	p.A605V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			13	1967	-			592					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1814C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035418	0.93630	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.938;0.982;0.963	D	0.98911	1.0780	10	0.87932	D	0	.	14.9849	0.71339	0.0:0.0:1.0:0.0	.	605;603;592;592	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	V	592;592;605;562;336;603	ENSP00000302397:A592V;ENSP00000411503:A592V;ENSP00000444688:A605V;ENSP00000437577:A603V	ENSP00000302397:A592V	A	-	2	0	ATP1A3	47174174	1.000000	0.71417	0.975000	0.42487	0.956000	0.61745	9.530000	0.98051	2.478000	0.83669	0.561000	0.74099	GCG		0.617	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		7	40	0	0	0	1	0	7	40				
DGKK	139189	broad.mit.edu	37	X	50213565	50213565	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:50213565G>A	ENST00000376025.2	-	0	172							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggcggcggagccggtggtgg	0.721																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							9.0	12.0	11.0					X																	50213565		1796	3935	5731			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213565G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213565G>A										Q5KSL6	DGKK_HUMAN			0	172	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.721	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		7	12	0	0	0	1	0	7	12				
ZNF470	388566	broad.mit.edu	37	19	57089767	57089767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57089767C>T	ENST00000330619.8	+	6	2656	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	ZNF470_ENST00000391709.3_Missense_Mutation_p.A657V|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTAGCAAAGCCTTCAGCCAG	0.423																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1969-1971)gCc>gTc		zinc finger protein 470							91.0	87.0	88.0					19																	57089767		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089767C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1970C>T	19.37:g.57089767C>T	ENSP00000333223:p.Ala657Val					ZNF470_ENST00000391709.3_Missense_Mutation_p.A657V|ZNF470_ENST00000601902.1_Intron	p.A657V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2656	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	657					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1970C>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085044	0.55861	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.19105	2.17;2.17	3.92	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16769	0.0403	L	0.39397	1.21	0.21386	N	0.999704	B	0.34181	0.44	B	0.31946	0.138	T	0.11665	-1.0578	9	0.52906	T	0.07	.	8.6171	0.33838	0.1664:0.6713:0.1623:0.0	.	657	Q6ECI4	ZN470_HUMAN	V	657	ENSP00000375590:A657V;ENSP00000333223:A657V	ENSP00000333223:A657V	A	+	2	0	ZNF470	61781579	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	-0.001000	0.12947	2.030000	0.59900	0.561000	0.74099	GCC		0.423	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		8	53	0	0	0	1	0	8	53				
PRSS3P2	154754	broad.mit.edu	37	7	142481279	142481279	+	RNA	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142481279T>C	ENST00000603901.1	+	0	353					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACACCTGCCGTCATCAATGCC	0.547																																						ENST00000603901.1																			0																				208.0	144.0	164.0					7																	142481279		683	1481	2164			154754							g.chr7:142481279T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481279T>C								NR_001296.3						0	353	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.547	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	22	0	0	0	1	0	4	22				
SPATA31C1	441452	broad.mit.edu	37	9	90535510	90535510	+	RNA	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:90535510C>A	ENST00000602681.1	+	0	1414							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCCTGCTCTCCACCTCCTCC	0.607																																						ENST00000602681.1																			0																				90.0	75.0	80.0					9																	90535510		692	1591	2283			441452							g.chr9:90535510C>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535510C>A														0	1414	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.607	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		64	150	1	0	5.5144e-22	1	9.41959e-22	64	150				
GPR98	84059	broad.mit.edu	37	5	89938734	89938734	+	Missense_Mutation	SNP	T	T	C	rs377011482		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:89938734T>C	ENST00000405460.2	+	13	2525	c.2429T>C	c.(2428-2430)cTa>cCa	p.L810P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	810	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCAGTTTCTACACTACCGA	0.418																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2428-2430)cTa>cCa		G protein-coupled receptor 98							135.0	129.0	131.0					5																	89938734		1835	4085	5920	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89938734T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2429T>C	5.37:g.89938734T>C	ENSP00000384582:p.Leu810Pro						p.L810P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	13	2525	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	810					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2429T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494407	0.85069	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29917	1.55	5.16	5.16	0.70880	Na-Ca exchanger/integrin-beta4 (1);	0.134846	0.51477	D	0.000083	T	0.51635	0.1686	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.55003	-0.8208	10	0.87932	D	0	.	14.9991	0.71459	0.0:0.0:0.0:1.0	.	810	Q8WXG9	GPR98_HUMAN	P	810	ENSP00000384582:L810P	ENSP00000296619:L810P	L	+	2	0	GPR98	89974490	1.000000	0.71417	0.807000	0.32361	0.972000	0.66771	7.413000	0.80104	1.945000	0.56424	0.482000	0.46254	CTA		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	65	0	0	0	1	0	16	65				
FAM107B	83641	broad.mit.edu	37	10	14816434	14816434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:14816434G>T	ENST00000181796.2	-	1	462	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCGAATCTTGCCTTTTCTCT	0.602																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(229-231)Caa>Aaa		family with sequence similarity 107, member B							158.0	148.0	151.0					10																	14816434		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816434G>T	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.229C>A	10.37:g.14816434G>T	ENSP00000181796:p.Gln77Lys						p.Q77K	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			1	462	-			0					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.229C>A	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	3.674	-0.066860	0.07273	.	.	ENSG00000065809	ENST00000181796	T	0.42900	0.96	5.23	2.22	0.28083	.	1.277180	0.05828	N	0.617052	T	0.22166	0.0534	N	0.14661	0.345	0.20489	N	0.999898	B	0.19200	0.034	B	0.19148	0.024	T	0.22800	-1.0206	10	0.02654	T	1	-10.6452	5.7076	0.17917	0.076:0.1369:0.6454:0.1417	.	77	Q9H098-2	.	K	77	ENSP00000181796:Q77K	ENSP00000181796:Q77K	Q	-	1	0	FAM107B	14856440	0.048000	0.20356	0.248000	0.24265	0.201000	0.24016	0.764000	0.26532	0.738000	0.32606	-0.181000	0.13052	CAA		0.602	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		18	91	1	0	9.16793e-09	1	1.4602e-08	18	91				
EPHA3	2042	broad.mit.edu	37	3	89259051	89259051	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:89259051C>T	ENST00000336596.2	+	3	420	c.195C>T	c.(193-195)atC>atT	p.I65I	EPHA3_ENST00000452448.2_Silent_p.I65I|EPHA3_ENST00000494014.1_Silent_p.I65I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	65	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				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)		ACACACCCATCAGGACTTACC	0.438										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				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						c.(193-195)atC>atT		EPH receptor A3							62.0	60.0	61.0					3																	89259051		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259051C>T	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.195C>T	3.37:g.89259051C>T		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Silent_p.I65I|EPHA3_ENST00000452448.2_Silent_p.I65I	p.I65I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	420	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	65					Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.195C>T	CCDS2922.1																																																																																				0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		3	25	0	0	0	1	0	3	25				
EPB41L5	57669	broad.mit.edu	37	2	120834636	120834636	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:120834636C>G	ENST00000263713.5	+	8	809	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	EPB41L5_ENST00000443124.1_Missense_Mutation_p.L199V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L199V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L199V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L199V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	199	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAGATGGAACTGGCTATTTT	0.373																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(595-597)Ctg>Gtg		erythrocyte membrane protein band 4.1 like 5							149.0	149.0	149.0					2																	120834636		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120834636C>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.595C>G	2.37:g.120834636C>G	ENSP00000263713:p.Leu199Val					EPB41L5_ENST00000443124.1_Missense_Mutation_p.L199V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L199V|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L199V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L199V	p.L199V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			8	809	+			199			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.595C>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	5.821	0.335767	0.11013	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.01	3.21	0.36854	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.117843	0.37095	N	0.002241	T	0.61135	0.2323	N	0.20685	0.6	0.43175	D	0.994984	B;P;B;P	0.39601	0.079;0.63;0.065;0.68	B;B;B;B	0.40066	0.036;0.212;0.03;0.318	T	0.52434	-0.8576	10	0.20046	T	0.44	.	8.2311	0.31599	0.0:0.7537:0.0:0.2463	.	199;199;199;199	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	V	199	ENSP00000263713:L199V;ENSP00000393856:L199V;ENSP00000329687:L199V;ENSP00000393722:L199V;ENSP00000390439:L199V	ENSP00000263713:L199V	L	+	1	2	EPB41L5	120551106	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	0.994000	0.29693	0.523000	0.28482	0.561000	0.74099	CTG		0.373	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		6	74	0	0	0	1	0	6	74				
TTN	7273	broad.mit.edu	37	2	179547496	179547496	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179547496C>G	ENST00000591111.1	-	133	32295	c.32071G>C	c.(32071-32073)Gaa>Caa	p.E10691Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11008Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9764Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0	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)			TGGTCATATTCTTCTGTTGGT	0.368																																						ENST00000589042.1																			0				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						c.(33022-33024)Gaa>Caa		titin							296.0	272.0	279.0					2																	179547496		1863	4098	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179547496C>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.32071G>C	2.37:g.179547496C>G	ENSP00000465570:p.Glu10691Gln					TTN_ENST00000591111.1_Missense_Mutation_p.E10691Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9764Q|TTN_ENST00000359218.5_Intron	p.E11008Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		135	33246	-			10691			Glu-rich.|Pro-rich.		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.33022G>C		.	.	.	.	.	.	.	.	.	.	C	10.09	1.254535	0.22965	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	D;T	0.81821	-1.54;-0.18	5.18	5.18	0.71444	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.80788	0.4690	N	0.19112	0.55	0.80722	D	1	P;D	0.60575	0.707;0.988	B;P	0.58721	0.188;0.844	D	0.83923	0.0302	9	0.87932	D	0	.	16.8623	0.86021	0.0:1.0:0.0:0.0	.	10691;10427	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	Q	9764;622	ENSP00000343764:E9764Q;ENSP00000401501:E622Q	ENSP00000343764:E9764Q	E	-	1	0	TTN	179255741	0.336000	0.24757	1.000000	0.80357	0.352000	0.29268	0.515000	0.22801	2.575000	0.86900	0.655000	0.94253	GAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	67	0	0	0	1	0	16	67				
PHRF1	57661	broad.mit.edu	37	11	609228	609228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:609228G>A	ENST00000264555.5	+	14	3900	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	PHRF1_ENST00000416188.2_Missense_Mutation_p.D1257N|PHRF1_ENST00000533464.1_Missense_Mutation_p.D1254N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D1256N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1258					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGACGACCTGGACCTGGATTA	0.622																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(3772-3774)Gac>Aac		PHD and ring finger domains 1							61.0	71.0	68.0					11																	609228		2183	4278	6461	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:609228G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3772G>A	11.37:g.609228G>A	ENSP00000264555:p.Asp1258Asn					PHRF1_ENST00000533464.1_Missense_Mutation_p.D1254N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D1257N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D1256N	p.D1258N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	3900	+			1258					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3772G>A		.	.	.	.	.	.	.	.	.	.	G	13.06	2.125250	0.37533	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	1.74	1.74	0.24563	.	0.000000	0.42821	D	0.000653	T	0.80082	0.4558	L	0.29908	0.895	0.29616	N	0.846605	D;D;D;D	0.67145	0.993;0.996;0.996;0.993	D;D;D;D	0.73708	0.971;0.981;0.981;0.956	T	0.72827	-0.4175	10	0.72032	D	0.01	-34.0408	6.8479	0.23998	0.0:0.0:1.0:0.0	.	1254;1256;1257;1258	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	N	1258;1256;1257;1254	ENSP00000264555:D1258N;ENSP00000388589:D1256N;ENSP00000410626:D1257N;ENSP00000431870:D1254N	ENSP00000264555:D1258N	D	+	1	0	PHRF1	599228	0.265000	0.24102	0.504000	0.27639	0.205000	0.24178	1.956000	0.40382	0.930000	0.37217	0.561000	0.74099	GAC		0.622	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		3	28	0	0	0	1	0	3	28				
ACACA	31	broad.mit.edu	37	17	35549119	35549119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:35549119C>T	ENST00000394406.2	-	37	4407	c.4217G>A	c.(4216-4218)gGg>gAg	p.G1406E	ACACA_ENST00000353139.5_Missense_Mutation_p.G1443E|ACACA_ENST00000335166.5_Missense_Mutation_p.G1328E|ACACA_ENST00000360679.3_Missense_Mutation_p.G1348E	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1406					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTGGCTGCCCCGAGATACAG	0.507																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4327-4329)gGg>gAg		acetyl-CoA carboxylase alpha	Biotin(DB00121)						131.0	103.0	113.0					17																	35549119		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35549119C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4217G>A	17.37:g.35549119C>T	ENSP00000377928:p.Gly1406Glu					ACACA_ENST00000394406.2_Missense_Mutation_p.G1406E|ACACA_ENST00000360679.3_Missense_Mutation_p.G1348E|ACACA_ENST00000335166.5_Missense_Mutation_p.G1328E	p.G1443E	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			37	4809	-		Breast(25;0.00157)|Ovarian(249;0.15)	1406					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4328G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219509	0.95139	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.74794	0.3763	M	0.86343	2.81	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;0.995;0.991	T	0.78780	-0.2070	10	0.87932	D	0	-16.3406	19.4103	0.94670	0.0:1.0:0.0:0.0	.	154;1443;1406;1348	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	E	1443;1348;1406;1430;1328;154	ENSP00000344789:G1443E;ENSP00000353898:G1348E;ENSP00000377928:G1406E;ENSP00000335323:G1328E	ENSP00000335323:G1328E	G	-	2	0	ACACA	32623232	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.669000	0.90835	0.650000	0.86243	GGG		0.507	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		7	29	0	0	0	1	0	7	29				
ADAMTS10	81794	broad.mit.edu	37	19	8661981	8661981	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:8661981G>A	ENST00000597188.1	-	8	1200	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ADAMTS10_ENST00000270328.4_Silent_p.S310S|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	310	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGCTGTCCAGGGACTTCCCGG	0.587																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(928-930)tcC>tcT		ADAM metallopeptidase with thrombospondin type 1 motif, 10							98.0	88.0	91.0					19																	8661981		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661981G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.930C>T	19.37:g.8661981G>A						ADAMTS10_ENST00000597188.1_Silent_p.S310S	p.S310S			Q9H324	ATS10_HUMAN			7	1196	-			310			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.930C>T	CCDS12206.1																																																																																				0.587	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		4	56	0	0	0	1	0	4	56				
POLR2A	5430	broad.mit.edu	37	17	7414793	7414793	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:7414793G>A	ENST00000322644.6	+	24	4386	c.3987G>A	c.(3985-3987)aaG>aaA	p.K1329K		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1329					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.I1322_W1334del(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGAATTCAAGGCCCTGCAGG	0.562																																						ENST00000322644.6																			1	Deletion - In frame(1)	p.I1322_W1334del(1)	pancreas(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(3985-3987)aaG>aaA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							126.0	93.0	104.0					17																	7414793		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7414793G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3987G>A	17.37:g.7414793G>A							p.K1329K	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			24	4386	+		Prostate(122;0.173)	1329					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.3987G>A	CCDS32548.1																																																																																				0.562	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		9	30	0	0	0	1	0	9	30				
GRIP1	23426	broad.mit.edu	37	12	66765603	66765603	+	Silent	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:66765603C>G	ENST00000398016.3	-	22	2795	c.2727G>C	c.(2725-2727)cgG>cgC	p.R909R	GRIP1_ENST00000286445.7_Silent_p.R946R|GRIP1_ENST00000359742.4_Silent_p.R961R	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGTAGTGCGGCCGCGAGCTGC	0.537																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2881-2883)cgG>cgC		glutamate receptor interacting protein 1							112.0	122.0	118.0					12																	66765603		2098	4207	6305	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66765603C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2727G>C	12.37:g.66765603C>G						GRIP1_ENST00000286445.7_Silent_p.R946R|GRIP1_ENST00000398016.3_Silent_p.R909R	p.R961R			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	23	3123	-			961					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.2883G>C	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	0.664	-0.804706	0.02819	.	.	ENSG00000155974	ENST00000538164	.	.	.	6.07	-0.717	0.11208	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34675	-0.9819	4	.	.	.	-15.5237	4.5512	0.12114	0.0991:0.5552:0.0968:0.2488	.	.	.	.	A	761	.	.	G	-	2	0	GRIP1	65051870	1.000000	0.71417	0.938000	0.37757	0.020000	0.10135	0.788000	0.26872	-0.047000	0.13423	-0.150000	0.13652	GGC		0.537	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			9	80	0	0	0	1	0	9	80				
C17orf70	80233	broad.mit.edu	37	17	79517459	79517459	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:79517459C>A	ENST00000327787.8	-	3	1107	c.1061G>T	c.(1060-1062)gGg>gTg	p.G354V	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Missense_Mutation_p.G203V			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	354					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGGCCACCCCCGCCACAGGC	0.682																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(607-609)gGg>gTg		chromosome 17 open reading frame 70							31.0	36.0	34.0					17																	79517459		2199	4295	6494	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517459C>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1061G>T	17.37:g.79517459C>A	ENSP00000333283:p.Gly354Val					C17orf70_ENST00000327787.8_Missense_Mutation_p.G354V	p.G203V	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	1133	-	all_neural(118;0.0878)|Melanoma(429;0.242)		354					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.608G>T	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	2.385	-0.341091	0.05243	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302	T;T	0.30714	3.41;1.52	4.56	-0.531	0.11894	.	0.634763	0.14461	N	0.318188	T	0.14743	0.0356	N	0.16478	0.41	0.09310	N	0.999996	B	0.19583	0.037	B	0.15052	0.012	T	0.17349	-1.0372	10	0.35671	T	0.21	.	5.1329	0.14919	0.1406:0.5287:0.2448:0.0859	.	354	Q0VG06	FP100_HUMAN	V	354;203;203;203	ENSP00000333283:G354V;ENSP00000440151:G203V	ENSP00000333283:G354V	G	-	2	0	C17orf70	77127901	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.371000	0.20450	0.308000	0.22923	0.655000	0.94253	GGG		0.682	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		8	24	1	0	0.00307968	1	0.00354221	8	24				
TTN	7273	broad.mit.edu	37	2	179464352	179464352	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179464352G>C	ENST00000591111.1	-	239	51577	c.51353C>G	c.(51352-51354)aCt>aGt	p.T17118S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9819S|TTN_ENST00000589042.1_Missense_Mutation_p.T18759S|TTN_ENST00000460472.2_Missense_Mutation_p.T9694S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T16191S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T9886S			Q8WZ42	TITIN_HUMAN	titin	17118	Ig-like 102.				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)			ATATAAGCCAGTGTCACTCCT	0.418																																						ENST00000589042.1																			0				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						c.(56275-56277)aCt>aGt		titin							237.0	231.0	233.0					2																	179464352		1928	4136	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464352G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51353C>G	2.37:g.179464352G>C	ENSP00000465570:p.Thr17118Ser					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T17118S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T9694S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T9886S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T16191S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9819S|TTN-AS1_ENST00000589234.1_RNA	p.T18759S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	56500	-			17118			Fibronectin type-III 36.		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.56276C>G		.	.	.	.	.	.	.	.	.	.	G	13.66	2.302373	0.40694	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46210	0.1381	N	0.04636	-0.2	0.47214	D	0.999356	B;B;B;B	0.30605	0.122;0.122;0.122;0.287	B;B;B;B	0.31869	0.137;0.137;0.137;0.137	T	0.53592	-0.8417	9	0.87932	D	0	.	19.5067	0.95121	0.0:0.0:1.0:0.0	.	9694;9819;9886;17118	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	16191;9694;9886;9819;9692	ENSP00000343764:T16191S;ENSP00000434586:T9694S;ENSP00000340554:T9886S;ENSP00000352154:T9819S	ENSP00000340554:T9886S	T	-	2	0	TTN	179172597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.968000	0.49224	2.609000	0.88269	0.650000	0.86243	ACT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	134	0	0	0	1	0	12	134				
DMRTC2	63946	broad.mit.edu	37	19	42351701	42351701	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:42351701C>A	ENST00000269945.3	+	2	256	c.205C>A	c.(205-207)Cac>Aac	p.H69N	LYPD4_ENST00000601246.1_5'Flank|LYPD4_ENST00000330743.3_5'Flank|DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.H69N	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	69					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTGCGAGTGTCACAAATGTGT	0.592																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(205-207)Cac>Aac		DMRT-like family C2							68.0	58.0	61.0					19																	42351701		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351701C>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.205C>A	19.37:g.42351701C>A	ENSP00000269945:p.His69Asn					DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.H69N	p.H69N	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			2	256	+			69					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.205C>A	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903104	0.52227	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.29	4.29	0.51040	DM DNA-binding (6);	0.284524	0.25316	N	0.031543	T	0.35278	0.0926	N	0.08118	0	0.34890	D	0.745415	P;P	0.52692	0.955;0.948	P;P	0.49332	0.579;0.607	T	0.48790	-0.9004	9	0.38643	T	0.18	-10.5842	12.9776	0.58546	0.0:1.0:0.0:0.0	.	69;69	B4DX56;Q8IXT2	.;DMRTD_HUMAN	N	69	.	ENSP00000269945:H69N	H	+	1	0	DMRTC2	47043541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.136000	0.42121	2.355000	0.79922	0.561000	0.74099	CAC		0.592	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		6	59	1	0	0.0215528	1	0.0230314	6	59				
PLSCR2	57047	broad.mit.edu	37	3	146166994	146166994	+	Splice_Site	SNP	A	A	G	rs550593565		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:146166994A>G	ENST00000497985.1	-	8	1302	c.863T>C	c.(862-864)aTt>aCt	p.I288T	PLSCR2_ENST00000336685.2_Splice_Site_p.I215T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	288					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.I288T(1)|p.I215T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TAGACTTACAATGAGGAAACA	0.353													A|||	1	0.000199681	0.0	0.0	5008	,	,		15577	0.0		0.0	False		,,,				2504	0.001					ENST00000497985.1																			2	Substitution - Missense(2)	p.I288T(1)|p.I215T(1)	lung(2)	endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.e8+1		phospholipid scramblase 2							161.0	157.0	158.0					3																	146166994		2203	4300	6503	SO:0001630	splice_region_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146166994A>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.864+1T>C	3.37:g.146166994A>G						PLSCR2_ENST00000336685.2_Splice_Site_p.I215_splice	p.I288_splice	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			8	1302	-			215					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Splice_Site	SNP	ENST00000497985.1	37	c.864_splice	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	17.14	3.313527	0.60414	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985	T;T	0.37752	1.18;1.18	3.44	3.44	0.39384	.	0.159187	0.21782	U	0.069183	T	0.67477	0.2897	H	0.94734	3.575	0.45822	D	0.998698	D;D	0.67145	0.992;0.996	D;D	0.70487	0.969;0.942	T	0.77091	-0.2716	10	0.87932	D	0	.	12.3742	0.55271	1.0:0.0:0.0:0.0	.	308;215	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	215;307;288	ENSP00000338707:I215T;ENSP00000420132:I288T	ENSP00000338707:I215T	I	-	2	0	PLSCR2	147649684	0.998000	0.40836	0.997000	0.53966	0.769000	0.43574	8.593000	0.90832	1.547000	0.49401	0.460000	0.39030	ATT		0.353	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	Missense_Mutation	16	109	0	0	0	1	0	16	109				
CUBN	8029	broad.mit.edu	37	10	16893281	16893281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:16893281G>C	ENST00000377833.4	-	60	9681	c.9616C>G	c.(9616-9618)Ctg>Gtg	p.L3206V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3206	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCCTCCAGAGCAAATGTA	0.343																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(9616-9618)Ctg>Gtg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						99.0	100.0	100.0					10																	16893281		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16893281G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9616C>G	10.37:g.16893281G>C	ENSP00000367064:p.Leu3206Val						p.L3206V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			60	9681	-			3206			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9616C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189631	0.57909	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.20069	2.1	5.26	3.36	0.38483	CUB (5);	0.000000	0.31233	N	0.008015	T	0.31575	0.0801	L	0.53617	1.68	0.80722	D	1	P	0.52692	0.955	P	0.58577	0.841	T	0.01988	-1.1234	10	0.49607	T	0.09	.	6.864	0.24082	0.1462:0.0:0.7115:0.1423	.	3206	O60494	CUBN_HUMAN	V	3206;47	ENSP00000367064:L3206V	ENSP00000367064:L3206V	L	-	1	2	CUBN	16933287	1.000000	0.71417	0.696000	0.30242	0.959000	0.62525	4.395000	0.59678	0.565000	0.29255	0.313000	0.20887	CTG		0.343	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	43	0	0	0	1	0	5	43				
PLCE1	51196	broad.mit.edu	37	10	96018842	96018842	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:96018842A>T	ENST00000371380.3	+	12	3984	c.3749A>T	c.(3748-3750)gAg>gTg	p.E1250V	PLCE1_ENST00000260766.3_Missense_Mutation_p.E1250V|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942V|PLCE1_ENST00000371375.1_Missense_Mutation_p.E942V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1250					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTGGCTCCGAGTCAGCCCCA	0.488																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3748-3750)gAg>gTg		phospholipase C, epsilon 1							159.0	159.0	159.0					10																	96018842		2022	4191	6213	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018842A>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3749A>T	10.37:g.96018842A>T	ENSP00000360431:p.Glu1250Val					PLCE1_ENST00000371375.1_Missense_Mutation_p.E942V|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942V|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1250V	p.E1250V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			13	4383	+		Colorectal(252;0.0458)	1250					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3749A>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887899	0.33348	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.26373	1.74;1.74;1.76;1.76	5.77	4.63	0.57726	.	0.060426	0.64402	D	0.000004	T	0.32133	0.0819	N	0.25647	0.755	0.40075	D	0.976064	D;D;B	0.62365	0.985;0.991;0.052	P;P;B	0.58577	0.773;0.841;0.047	T	0.05733	-1.0867	10	0.45353	T	0.12	.	13.1991	0.59756	0.867:0.133:0.0:0.0	.	1234;942;1250	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	1250;1250;942;942	ENSP00000260766:E1250V;ENSP00000360431:E1250V;ENSP00000360438:E942V;ENSP00000360426:E942V	ENSP00000260766:E1250V	E	+	2	0	PLCE1	96008832	1.000000	0.71417	0.156000	0.22583	0.095000	0.18619	6.089000	0.71384	1.002000	0.39104	0.454000	0.30748	GAG		0.488	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		11	59	0	0	0	1	0	11	59				
OR4C6	219432	broad.mit.edu	37	11	55432896	55432896	+	Missense_Mutation	SNP	C	C	T	rs367721616		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55432896C>T	ENST00000314259.3	+	1	283	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GACACCCTCTCCAAGAGCACT	0.483																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(253-255)tCc>tTc		olfactory receptor, family 4, subfamily C, member 6							189.0	165.0	173.0					11																	55432896		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432896C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.254C>T	11.37:g.55432896C>T	ENSP00000324769:p.Ser85Phe						p.S85F	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	283	+			85					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.254C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	2.336	-0.352141	0.05173	.	.	ENSG00000181903	ENST00000314259	T	0.02890	4.12	3.83	0.52	0.17040	GPCR, rhodopsin-like superfamily (1);	0.211536	0.24078	N	0.041747	T	0.01905	0.0060	L	0.31804	0.96	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.49273	-0.8957	10	0.10377	T	0.69	.	5.9681	0.19336	0.4729:0.4333:0.0:0.0938	.	85	Q8NH72	OR4C6_HUMAN	F	85	ENSP00000324769:S85F	ENSP00000324769:S85F	S	+	2	0	OR4C6	55189472	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.402000	0.07223	0.126000	0.18424	0.543000	0.68304	TCC		0.483	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		13	77	0	0	0	1	0	13	77				
RB1CC1	9821	broad.mit.edu	37	8	53569364	53569364	+	Missense_Mutation	SNP	C	C	A	rs139382244		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:53569364C>A	ENST00000025008.5	-	15	3548	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y	RB1CC1_ENST00000435644.2_Missense_Mutation_p.D1009Y|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D1009Y	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1009					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTCTGTGGTCTGTCATAACC	0.358																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(3025-3027)Gac>Tac		RB1-inducible coiled-coil 1							111.0	118.0	116.0					8																	53569364		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569364C>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3025G>T	8.37:g.53569364C>A	ENSP00000025008:p.Asp1009Tyr					RB1CC1_ENST00000435644.2_Missense_Mutation_p.D1009Y|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D1009Y|RB1CC1_ENST00000521611.1_Intron	p.D1009Y	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			15	3548	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1009					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.3025G>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809351	0.31961	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04603	3.59;3.59;3.59	5.05	5.05	0.67936	.	0.205916	0.49305	D	0.000157	T	0.07683	0.0193	L	0.27053	0.805	0.42859	D	0.994108	P;P	0.47253	0.892;0.828	P;B	0.50537	0.643;0.44	T	0.14420	-1.0473	10	0.72032	D	0.01	-4.359	13.1438	0.59450	0.0:0.9227:0.0:0.0773	.	1009;1009	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	Y	1009	ENSP00000025008:D1009Y;ENSP00000396067:D1009Y;ENSP00000445960:D1009Y	ENSP00000025008:D1009Y	D	-	1	0	RB1CC1	53731917	0.985000	0.35326	0.938000	0.37757	0.572000	0.35998	2.747000	0.47475	2.523000	0.85059	0.557000	0.71058	GAC		0.358	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		11	88	1	0	3.86212e-05	1	5.09224e-05	11	88				
OR5C1	392391	broad.mit.edu	37	9	125551232	125551232	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:125551232C>A	ENST00000373680.2	+	1	83	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						AGAACCTCACCCGGGCCGCGG	0.587																																						ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(19-21)acC>acA		olfactory receptor, family 5, subfamily C, member 1							67.0	71.0	70.0					9																	125551232		2203	4300	6503	SO:0001819	synonymous_variant	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551232C>A	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.21C>A	9.37:g.125551232C>A							p.T7T	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	83	+			7					B2RN54|B9EGT0|Q96RC4	Silent	SNP	ENST00000373680.2	37	c.21C>A	CCDS35131.1																																																																																				0.587	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			5	51	1	0	0.000602214	1	0.000725341	5	51				
ZFP42	132625	broad.mit.edu	37	4	188924561	188924561	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:188924561G>T	ENST00000326866.4	+	4	1008	c.600G>T	c.(598-600)agG>agT	p.R200S	ZFP42_ENST00000509524.1_Missense_Mutation_p.R200S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	200					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAGTTGAGGAATAGAGCTG	0.483																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(598-600)agG>agT		ZFP42 zinc finger protein							119.0	123.0	122.0					4																	188924561		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924561G>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.600G>T	4.37:g.188924561G>T	ENSP00000317686:p.Arg200Ser					ZFP42_ENST00000509524.1_Missense_Mutation_p.R200S	p.R200S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	1008	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	200					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.600G>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364882	0.24684	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.11712	2.75;2.75	4.39	0.104	0.14531	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110966	0.64402	D	0.000019	T	0.03136	0.0092	N	0.10945	0.07	0.26582	N	0.973362	B	0.25169	0.119	B	0.18263	0.021	T	0.37911	-0.9685	10	0.06099	T	0.92	.	1.8878	0.03241	0.219:0.1487:0.4799:0.1524	.	200	Q96MM3	ZFP42_HUMAN	S	200	ENSP00000317686:R200S;ENSP00000424662:R200S	ENSP00000317686:R200S	R	+	3	2	ZFP42	189161555	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	2.553000	0.45837	-0.024000	0.13941	-0.175000	0.13238	AGG		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		10	71	1	0	7.48243e-07	1	1.10552e-06	10	71				
CDH12	1010	broad.mit.edu	37	5	21975242	21975242	+	Missense_Mutation	SNP	C	C	A	rs145189313		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:21975242C>A	ENST00000382254.1	-	6	1570	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	CDH12_ENST00000522262.1_Missense_Mutation_p.D162Y|CDH12_ENST00000504376.2_Missense_Mutation_p.D162Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TAAGGTCCATCCAAAAACTTT	0.413										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(484-486)Gat>Tat		cadherin 12, type 2 (N-cadherin 2)							107.0	107.0	107.0					5																	21975242		2057	3904	5961	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975242C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.484G>T	5.37:g.21975242C>A	ENSP00000371689:p.Asp162Tyr	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.D162Y|CDH12_ENST00000522262.1_Missense_Mutation_p.D162Y	p.D162Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			6	1570	-			162			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.484G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998354	0.74818	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60797	0.29;0.29;0.16	5.16	5.16	0.70880	Cadherin (3);Cadherin-like (1);	0.045601	0.85682	D	0.000000	T	0.63686	0.2532	L	0.43152	1.355	0.58432	D	0.999999	P;D	0.55385	0.932;0.971	P;P	0.52554	0.702;0.641	T	0.67635	-0.5620	10	0.72032	D	0.01	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	162;162	B7Z2U6;P55289	.;CAD12_HUMAN	Y	162	ENSP00000423577:D162Y;ENSP00000371689:D162Y;ENSP00000428786:D162Y	ENSP00000371689:D162Y	D	-	1	0	CDH12	22010999	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.397000	0.79903	2.414000	0.81942	0.484000	0.47621	GAT		0.413	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		10	120	1	0	2.74318e-10	1	4.526e-10	10	120				
RALGAPA1	253959	broad.mit.edu	37	14	36008849	36008849	+	3'UTR	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:36008849C>T	ENST00000389698.3	-	0	6572				RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V2051I|RALGAPA1_ENST00000382366.3_3'UTR|RALGAPA1_ENST00000258840.6_3'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCATCTACCTGCGTTGCT	0.522																																						ENST00000307138.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(6151-6153)Gta>Ata		Ral GTPase activating protein, alpha subunit 1 (catalytic)							123.0	116.0	119.0					14																	36008849		2203	4300	6503	SO:0001624	3_prime_UTR_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36008849C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.*71G>A	14.37:g.36008849C>T						RALGAPA1_ENST00000389698.3_3'UTR|RALGAPA1_ENST00000382366.3_3'UTR|RALGAPA1_ENST00000258840.6_3'UTR	p.V2051I	NM_194301.2	NP_919277.2	Q6GYQ0	RGPA1_HUMAN			40	6619	-			0					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.6151G>A	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715770|1.715770	0.30413|0.30413	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000307138;ENST00000554259	.|D;D	.|0.96716	.|-3.36;-4.1	5.38|5.38	4.26|4.26	0.50523|0.50523	.|.	.|0.138188	.|0.33253	.|N	.|0.005115	D|D	0.91905|0.91905	0.7437|0.7437	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.15473	.|0.013	.|B	.|0.16289	.|0.015	D|D	0.87821|0.87821	0.2638|0.2638	5|10	.|0.38643	.|T	.|0.18	-13.9348|-13.9348	10.8754|10.8754	0.46909|0.46909	0.0:0.8378:0.0:0.1622|0.0:0.8378:0.0:0.1622	.|.	.|2051	.|Q6GYQ0-2	.|.	D|I	356|2051;690	.|ENSP00000302647:V2051I;ENSP00000451133:V690I	.|ENSP00000302647:V2051I	G|V	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35078600|35078600	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.337000|2.337000	0.43947|0.43947	2.675000|2.675000	0.91044|0.91044	0.561000|0.561000	0.74099|0.74099	GGT|GTA		0.522	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		6	57	0	0	0	1	0	6	57				
RASGEF1B	153020	broad.mit.edu	37	4	82369429	82369429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:82369429T>C	ENST00000264400.2	-	5	599	c.448A>G	c.(448-450)Aga>Gga	p.R150G	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R108G|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.R149G	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	150	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACATTCTTTCTGTATGTCTGC	0.468																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(445-447)Aga>Gga		RasGEF domain family, member 1B							129.0	117.0	121.0					4																	82369429		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369429T>C	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.448A>G	4.37:g.82369429T>C	ENSP00000264400:p.Arg150Gly					RASGEF1B_ENST00000335927.7_Missense_Mutation_p.R108G|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.R150G	p.R149G			Q0VAM2	RGF1B_HUMAN			5	666	-			150			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.445A>G	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913346	0.33815	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.29917	1.55;1.55;1.55	5.31	-0.588	0.11687	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.050946	0.64402	D	0.000001	T	0.22666	0.0547	L	0.37507	1.11	0.80722	D	1	B;B;B	0.14438	0.003;0.003;0.01	B;B;B	0.20577	0.029;0.019;0.03	T	0.15578	-1.0432	10	0.13108	T	0.6	.	16.5755	0.84635	0.0:0.0:0.4812:0.5188	.	108;149;150	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	G	149;150;108	ENSP00000425393:R149G;ENSP00000264400:R150G;ENSP00000338437:R108G	ENSP00000264400:R150G	R	-	1	2	RASGEF1B	82588453	0.040000	0.19996	0.967000	0.41034	0.915000	0.54546	-0.736000	0.04882	0.018000	0.15052	-0.452000	0.05504	AGA		0.468	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		13	63	0	0	0	1	0	13	63				
PTPRM	5797	broad.mit.edu	37	18	8394531	8394531	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:8394531C>A	ENST00000332175.8	+	30	5264	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L	PTPRM_ENST00000400053.4_Silent_p.L1347L|PTPRM_ENST00000400060.4_Silent_p.L1423L|PTPRM_ENST00000580170.1_Silent_p.L1422L|PTPRM_ENST00000444013.1_Silent_p.L1196L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1409	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTGAGATGCTCCGGCACCAGA	0.557																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4225-4227)ctC>ctA		protein tyrosine phosphatase, receptor type, M							82.0	62.0	69.0					18																	8394531		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8394531C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4227C>A	18.37:g.8394531C>A						PTPRM_ENST00000580170.1_Silent_p.L1422L|PTPRM_ENST00000400053.4_Silent_p.L1347L|PTPRM_ENST00000400060.4_Silent_p.L1423L|PTPRM_ENST00000444013.1_Silent_p.L1196L	p.L1409L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			30	5264	+		Colorectal(10;0.234)	1409			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.4227C>A	CCDS11840.1																																																																																				0.557	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			6	28	1	0	2.0095e-06	1	2.90366e-06	6	28				
BPIFA1	51297	broad.mit.edu	37	20	31828129	31828129	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:31828129C>G	ENST00000354297.4	+	5	590	c.519C>G	c.(517-519)atC>atG	p.I173M	BPIFA1_ENST00000375422.2_Missense_Mutation_p.I173M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.I173M	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	173					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										AGGAGAGGATCCACCTGGTCC	0.547																																						ENST00000354297.4																			0											c.(517-519)atC>atG		BPI fold containing family A, member 1							206.0	195.0	199.0					20																	31828129		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31828129C>G	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.519C>G	20.37:g.31828129C>G	ENSP00000346251:p.Ile173Met					BPIFA1_ENST00000375422.2_Missense_Mutation_p.I173M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.I173M	p.I173M	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			5	590	+			173					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.519C>G	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828089	0.32329	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.05649	3.41;3.41;3.41	5.03	1.89	0.25635	.	1.357630	0.04485	N	0.378536	T	0.13543	0.0328	L	0.58101	1.795	0.09310	N	1	D	0.54397	0.966	P	0.52758	0.708	T	0.16217	-1.0410	10	0.34782	T	0.22	1.3353	4.903	0.13784	0.1671:0.6534:0.0:0.1795	.	173	Q9NP55	BPIA1_HUMAN	M	173;173;173;159	ENSP00000364571:I173M;ENSP00000346251:I173M;ENSP00000364562:I173M	ENSP00000346251:I173M	I	+	3	3	BPIFA1	31291790	0.005000	0.15991	0.033000	0.17914	0.557000	0.35523	0.082000	0.14847	0.350000	0.24002	0.655000	0.94253	ATC		0.547	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		19	148	0	0	0	1	0	19	148				
HSD3B2	3284	broad.mit.edu	37	1	119965036	119965036	+	Silent	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:119965036C>T	ENST00000543831.1	+	4	1161	c.912C>T	c.(910-912)ctC>ctT	p.L304L	HSD3B2_ENST00000369416.3_Silent_p.L304L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	304					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GCTTCCTACTCAGCCCAATTT	0.488																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(910-912)ctC>ctT		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						105.0	104.0	105.0					1																	119965036		2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965036C>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.912C>T	1.37:g.119965036C>T						HSD3B2_ENST00000369416.3_Silent_p.L304L	p.L304L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	1161	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	304					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.912C>T	CCDS902.1																																																																																				0.488	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		5	43	0	0	0	1	0	5	43				
OR10K2	391107	broad.mit.edu	37	1	158390342	158390342	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:158390342G>T	ENST00000314902.2	-	1	314	c.315C>A	c.(313-315)ctC>ctA	p.L105L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCCAAGGAAGAGGAAGGAAA	0.493																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(313-315)ctC>ctA		olfactory receptor, family 10, subfamily K, member 2							179.0	177.0	177.0					1																	158390342		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390342G>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.315C>A	1.37:g.158390342G>T							p.L105L	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	314	-	all_hematologic(112;0.0378)		105						Silent	SNP	ENST00000314902.2	37	c.315C>A	CCDS30896.1																																																																																				0.493	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		8	93	1	0	0.000157383	1	0.000199497	8	93				
UACA	55075	broad.mit.edu	37	15	70960221	70960221	+	Silent	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:70960221C>A	ENST00000322954.6	-	16	2987	c.2802G>T	c.(2800-2802)tcG>tcT	p.S934S	UACA_ENST00000539319.1_Silent_p.S825S|UACA_ENST00000560441.1_Silent_p.S919S|UACA_ENST00000379983.2_Silent_p.S921S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	934					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCTGACTTAGCGAGCTCATCT	0.413																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2800-2802)tcG>tcT		uveal autoantigen with coiled-coil domains and ankyrin repeats							116.0	106.0	109.0					15																	70960221		2199	4298	6497	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70960221C>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2802G>T	15.37:g.70960221C>A						UACA_ENST00000539319.1_Silent_p.S825S|UACA_ENST00000560441.1_Silent_p.S919S|UACA_ENST00000379983.2_Silent_p.S921S	p.S934S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	2987	-			934					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.2802G>T	CCDS10235.1																																																																																				0.413	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			7	55	1	0	0.00307968	1	0.00354221	7	55				
PDAP1	11333	broad.mit.edu	37	7	99002543	99002543	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:99002543T>A	ENST00000350498.3	-	2	327	c.47A>T	c.(46-48)cAg>cTg	p.Q16L		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	16					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTGTATACTGCCTCGCCCG	0.637																																						ENST00000350498.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9						c.(46-48)cAg>cTg		PDGFA associated protein 1	Becaplermin(DB00102)						89.0	73.0	78.0					7																	99002543		2203	4300	6503	SO:0001583	missense	11333				cell proliferation|signal transduction			g.chr7:99002543T>A	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.47A>T	7.37:g.99002543T>A	ENSP00000222968:p.Gln16Leu						p.Q16L	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	327	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		16					D6W5S5|Q92906	Missense_Mutation	SNP	ENST00000350498.3	37	c.47A>T	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272211	0.40194	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.11	5.11	0.69529	.	0.227434	0.44902	D	0.000409	T	0.54481	0.1861	M	0.74647	2.275	0.50039	D	0.999848	P	0.39480	0.675	B	0.29176	0.099	T	0.62661	-0.6807	9	0.52906	T	0.07	-20.7825	14.9732	0.71249	0.0:0.0:0.0:1.0	.	16	Q13442	HAP28_HUMAN	L	16	.	ENSP00000222968:Q16L	Q	-	2	0	PDAP1	98840479	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.212000	0.58514	1.946000	0.56461	0.515000	0.50301	CAG		0.637	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		5	27	0	0	0	1	0	5	27				
MAEL	84944	broad.mit.edu	37	1	166987073	166987073	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:166987073C>G	ENST00000367872.4	+	10	1162	c.918C>G	c.(916-918)atC>atG	p.I306M	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I275M	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	306					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGTACTGCATCAGTAATTCTC	0.343																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(916-918)atC>atG		maelstrom spermatogenic transposon silencer							103.0	98.0	99.0					1																	166987073		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166987073C>G	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.918C>G	1.37:g.166987073C>G	ENSP00000356846:p.Ile306Met					MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I275M	p.I306M	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			10	1162	+			306					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.918C>G	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936999	0.52972	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.58652	0.33;0.32;0.41	5.6	4.66	0.58398	.	0.000000	0.64402	D	0.000011	T	0.52565	0.1742	L	0.29908	0.895	0.39738	D	0.971715	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61387	-0.7073	10	0.72032	D	0.01	.	9.6956	0.40156	0.0:0.8997:0.0:0.1003	.	275;306	E9JVC3;Q96JY0	.;MAEL_HUMAN	M	306;275;275;28	ENSP00000356846:I306M;ENSP00000356844:I275M;ENSP00000402143:I275M	ENSP00000356844:I275M	I	+	3	3	MAEL	165253697	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.794000	0.38774	1.309000	0.44985	0.484000	0.47621	ATC		0.343	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		12	36	0	0	0	1	0	12	36				
DPP10	57628	broad.mit.edu	37	2	116593793	116593793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:116593793G>T	ENST00000410059.1	+	22	2491	c.2011G>T	c.(2011-2013)Gga>Tga	p.G671*	DPP10_ENST00000409163.1_Nonsense_Mutation_p.G621*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G664*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.G675*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	671						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						TTTTAAATGTGGATCCGTGGT	0.338																																						ENST00000410059.1																			0				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						c.(2011-2013)Gga>Tga		dipeptidyl-peptidase 10 (non-functional)							83.0	81.0	82.0					2																	116593793		2203	4300	6503	SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593793G>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.2011G>T	2.37:g.116593793G>T	ENSP00000386565:p.Gly671*					DPP10_ENST00000393147.2_Nonsense_Mutation_p.G675*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.G621*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G664*	p.G671*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			22	2491	+			671					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.2011G>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	41	9.149284	0.99082	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	5.67	5.67	0.87782	.	0.059948	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8494	18.7538	0.91825	0.0:0.0:1.0:0.0	.	.	.	.	X	671;621;675;664	.	ENSP00000309066:G664X	G	+	1	0	DPP10	116310263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.153000	0.71819	2.649000	0.89929	0.655000	0.94253	GGA		0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		4	18	1	0	0.014758	1	0.0159185	4	18				
PSIP1	11168	broad.mit.edu	37	9	15468795	15468795	+	Missense_Mutation	SNP	A	A	T	rs373573092		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:15468795A>T	ENST00000380733.4	-	14	1596	c.1253T>A	c.(1252-1254)aTg>aAg	p.M418K	PSIP1_ENST00000380738.4_Missense_Mutation_p.M418K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	418					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTTATACAACATTGTAGACTT	0.343																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1252-1254)aTg>aAg		PC4 and SFRS1 interacting protein 1							118.0	111.0	113.0					9																	15468795		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15468795A>T	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1253T>A	9.37:g.15468795A>T	ENSP00000370109:p.Met418Lys					PSIP1_ENST00000380738.4_Missense_Mutation_p.M418K	p.M418K			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	14	1596	-			418					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.1253T>A	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612384	0.66672	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	L	0.38531	1.155	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	T	0.55335	-0.8157	10	0.33940	T	0.23	.	15.9945	0.80230	1.0:0.0:0.0:0.0	.	418	O75475	PSIP1_HUMAN	K	418	ENSP00000370109:M418K;ENSP00000370114:M418K	ENSP00000370109:M418K	M	-	2	0	PSIP1	15458795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.648000	0.91062	2.232000	0.73038	0.528000	0.53228	ATG		0.343	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		8	51	0	0	0	1	0	8	51				
KMT2D	8085	broad.mit.edu	37	12	49438749	49438749	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:49438749C>G	ENST00000301067.7	-	19	4741		c.e19-1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TACTGGGGCTCTGCATAAGAG	0.532																																						ENST00000301067.7																			0											c.e19-1		lysine (K)-specific methyltransferase 2D							80.0	79.0	79.0					12																	49438749		2025	4185	6210	SO:0001630	splice_region_variant	8085							g.chr12:49438749C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4742-1G>C	12.37:g.49438749C>G								NM_003482.3	NP_003473.3					19	4741	-								O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026043	0.75390	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.854	0.92244	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47725016	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	5.748000	0.68697	2.746000	0.94184	0.655000	0.94253	.		0.532	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	4	44	0	0	0	1	0	4	44				
FRAS1	80144	broad.mit.edu	37	4	79434686	79434686	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:79434686A>G	ENST00000264895.6	+	65	10594	c.10154A>G	c.(10153-10155)tAt>tGt	p.Y3385C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3381					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTACCACCTATGACCTGAGA	0.483																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10153-10155)tAt>tGt		Fraser syndrome 1							159.0	152.0	154.0					4																	79434686		2012	4178	6190	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79434686A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10154A>G	4.37:g.79434686A>G	ENSP00000264895:p.Tyr3385Cys						p.Y3385C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			65	10594	+			3380					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10154A>G	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.221070	0.39201	.	.	ENSG00000138759	ENST00000264895	T	0.12255	2.7	5.44	1.28	0.21552	.	0.533866	0.19050	N	0.124064	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	B	0.43701	0.428	T	0.20405	-1.0276	10	0.66056	D	0.02	.	10.6399	0.45586	0.3216:0.0:0.6784:0.0	.	3385	E9PHH6	.	C	3385	ENSP00000264895:Y3385C	ENSP00000264895:Y3385C	Y	+	2	0	FRAS1	79653710	0.330000	0.24705	0.177000	0.23020	0.908000	0.53690	1.099000	0.31013	-0.080000	0.12685	0.383000	0.25322	TAT		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	56	0	0	0	1	0	10	56				
G6PC2	57818	broad.mit.edu	37	2	169764185	169764185	+	Missense_Mutation	SNP	T	T	A	rs375527806		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:169764185T>A	ENST00000375363.3	+	5	756	c.664T>A	c.(664-666)Tac>Aac	p.Y222N	G6PC2_ENST00000429379.2_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000421979.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	222					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AGTTGGCTTTTACCTGCTTCT	0.537																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(664-666)Tac>Aac		glucose-6-phosphatase, catalytic, 2							211.0	167.0	182.0					2																	169764185		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764185T>A	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.664T>A	2.37:g.169764185T>A	ENSP00000364512:p.Tyr222Asn					G6PC2_ENST00000461586.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR|G6PC2_ENST00000421979.1_3'UTR|SPC25_ENST00000472216.2_Intron	p.Y222N	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			5	756	+			222					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.664T>A	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651655	0.88056	.	.	ENSG00000152254	ENST00000375363	T	0.79554	-1.28	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000003	D	0.90528	0.7032	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91952	0.5572	10	0.87932	D	0	-16.3476	16.2444	0.82434	0.0:0.0:0.0:1.0	.	222	Q9NQR9	G6PC2_HUMAN	N	222	ENSP00000364512:Y222N	ENSP00000364512:Y222N	Y	+	1	0	G6PC2	169472431	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.903000	0.87398	2.237000	0.73441	0.533000	0.62120	TAC		0.537	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		14	70	0	0	0	1	0	14	70				
ATXN2	6311	broad.mit.edu	37	12	111948252	111948252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:111948252G>A	ENST00000377617.3	-	12	2334	c.2173C>T	c.(2173-2175)Cca>Tca	p.P725S	ATXN2_ENST00000542287.2_Missense_Mutation_p.P460S|ATXN2_ENST00000608853.1_Missense_Mutation_p.P565S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P436S|ATXN2_ENST00000550104.1_Missense_Mutation_p.P725S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P460S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	725	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GATGCAGCTGGAATAGGCATG	0.502																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2173-2175)Cca>Tca		ataxin 2							179.0	182.0	181.0					12																	111948252		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111948252G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2173C>T	12.37:g.111948252G>A	ENSP00000366843:p.Pro725Ser					ATXN2_ENST00000550104.1_Missense_Mutation_p.P725S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P460S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P460S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P436S	p.P725S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			12	2334	-			725			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2173C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660897	0.88154	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000546483	T;T	0.66460	-0.15;-0.21	6.17	6.17	0.99709	.	0.168502	0.53938	D	0.000051	T	0.64057	0.2564	L	0.56769	1.78	0.47819	D	0.999527	B;B;B	0.30824	0.296;0.012;0.161	B;B;B	0.26969	0.068;0.006;0.075	T	0.59198	-0.7499	10	0.15952	T	0.53	-8.63	20.8794	0.99867	0.0:0.0:1.0:0.0	.	725;436;460	Q99700;Q24JQ7;F8VQP2	ATX2_HUMAN;.;.	S	460;725;725;460;436;4	ENSP00000366843:P725S;ENSP00000446576:P725S	ENSP00000366843:P725S	P	-	1	0	ATXN2	110432635	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.570000	0.60872	2.941000	0.99782	0.655000	0.94253	CCA		0.502	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		14	108	0	0	0	1	0	14	108				
SCN2A	6326	broad.mit.edu	37	2	166188020	166188020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:166188020C>T	ENST00000375437.2	+	14	2620	c.2330C>T	c.(2329-2331)gCt>gTt	p.A777V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A777V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A777V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A777V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	777					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTTCATGGCTATGGAGCAC	0.453																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2329-2331)gCt>gTt		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						147.0	124.0	132.0					2																	166188020		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166188020C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2330C>T	2.37:g.166188020C>T	ENSP00000364586:p.Ala777Val					SCN2A_ENST00000375427.2_Missense_Mutation_p.A777V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A777V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A777V	p.A777V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			14	2620	+			777					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2330C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445122	0.96187	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	D	0.99064	0.9679	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.995	D	0.99257	1.0889	10	0.87932	D	0	.	19.505	0.95111	0.0:1.0:0.0:0.0	.	777;777	Q99250-2;Q99250	.;SCN2A_HUMAN	V	777	ENSP00000364586:A777V;ENSP00000349973:A777V;ENSP00000283256:A777V;ENSP00000364576:A777V	ENSP00000283256:A777V	A	+	2	0	SCN2A	165896266	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.616000	0.88540	0.585000	0.79938	GCT		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		4	55	0	0	0	1	0	4	55				
C2orf83	56918	broad.mit.edu	37	2	228476311	228476311	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:228476311C>G	ENST00000264387.4	-	3	338	c.252G>C	c.(250-252)caG>caC	p.Q84H	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	84					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCCCGCATGTCTGTACGGTAA	0.483																																						ENST00000264387.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						c.(250-252)caG>caC		chromosome 2 open reading frame 83							89.0	95.0	93.0					2																	228476311		2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476311C>G		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.252G>C	2.37:g.228476311C>G	ENSP00000264387:p.Gln84His					C2orf83_ENST00000409066.1_3'UTR	p.Q84H	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN			3	338	-			84					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.252G>C	CCDS33388.1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752342	0.15778	.	.	ENSG00000042304	ENST00000264387	T	0.59906	0.23	2.38	0.321	0.15883	.	.	.	.	.	T	0.36386	0.0965	N	0.14661	0.345	0.09310	N	1	P	0.52316	0.952	B	0.42692	0.395	T	0.24154	-1.0168	9	0.87932	D	0	.	4.4517	0.11624	0.0:0.6048:0.0:0.3952	.	84	Q53S99	CB083_HUMAN	H	84	ENSP00000264387:Q84H	ENSP00000264387:Q84H	Q	-	3	2	C2orf83	228184555	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.594000	0.05733	0.058000	0.16222	-0.244000	0.11960	CAG		0.483	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		7	40	0	0	0	1	0	7	40				
BNIP3P1	319138	broad.mit.edu	37	14	28733847	28733847	+	RNA	SNP	G	G	A	rs10145670	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:28733847G>A	ENST00000550043.1	+	0	252									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TGGGAAAGGGGGCAGTGTTCC	0.547													-|||	1323	0.264177	0.3464	0.366	5008	,	,		15417	0.1845		0.2565	False		,,,				2504	0.1708					ENST00000550043.1																			0																																																			319138							g.chr14:28733847G>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733847G>A														0	252	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.547	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			3	30	0	0	0	1	0	3	30				
FAM122A	116224	broad.mit.edu	37	9	71395894	71395894	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:71395894G>T	ENST00000394264.3	+	1	931	c.814G>T	c.(814-816)Gcc>Tcc	p.A272S	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	272										endometrium(1)|lung(2)	3						TGTGTCACCTGCCCAAGCGGC	0.463																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(814-816)Gcc>Tcc		family with sequence similarity 122A							210.0	218.0	215.0					9																	71395894		2203	4300	6503	SO:0001583	missense	116224							g.chr9:71395894G>T	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.814G>T	9.37:g.71395894G>T	ENSP00000377807:p.Ala272Ser					PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	p.A272S	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	931	+			272						Missense_Mutation	SNP	ENST00000394264.3	37	c.814G>T	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	G	0.359	-0.940286	0.02322	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	.	.	.	4.22	2.37	0.29283	.	0.122605	0.56097	D	0.000024	T	0.04861	0.0131	N	0.00142	-2.005	0.23492	N	0.997565	B	0.06786	0.001	B	0.08055	0.003	T	0.41088	-0.9528	9	0.02654	T	1	-28.5871	5.8193	0.18518	0.1047:0.1965:0.6988:0.0	.	272	Q96E09	F122A_HUMAN	S	272;256	.	ENSP00000366492:A256S	A	+	1	0	FAM122A	70585714	0.994000	0.37717	0.998000	0.56505	0.991000	0.79684	2.768000	0.47645	0.735000	0.32537	0.563000	0.77884	GCC		0.463	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		37	142	1	0	1.60099e-16	1	2.70959e-16	37	142				
LTBP1	4052	broad.mit.edu	37	2	33498785	33498785	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:33498785G>C	ENST00000404816.2	+	16	3033	c.2680G>C	c.(2680-2682)Gtg>Ctg	p.V894L	LTBP1_ENST00000404525.1_Missense_Mutation_p.V515L|LTBP1_ENST00000418533.2_Missense_Mutation_p.V568L|LTBP1_ENST00000402934.1_Missense_Mutation_p.V515L|LTBP1_ENST00000354476.3_Missense_Mutation_p.V895L|LTBP1_ENST00000407925.1_Missense_Mutation_p.V568L|LTBP1_ENST00000390003.4_Missense_Mutation_p.V569L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	894	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAACCTACCAGTGAGATATAC	0.358																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2680-2682)Gtg>Ctg		latent transforming growth factor beta binding protein 1							79.0	77.0	77.0					2																	33498785		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33498785G>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2680G>C	2.37:g.33498785G>C	ENSP00000386043:p.Val894Leu					LTBP1_ENST00000404525.1_Missense_Mutation_p.V515L|LTBP1_ENST00000402934.1_Missense_Mutation_p.V515L|LTBP1_ENST00000418533.2_Missense_Mutation_p.V568L|LTBP1_ENST00000390003.4_Missense_Mutation_p.V569L|LTBP1_ENST00000407925.1_Missense_Mutation_p.V568L|LTBP1_ENST00000354476.3_Missense_Mutation_p.V895L	p.V894L			Q14766	LTBP1_HUMAN			16	3033	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	894			EGF-like 4; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2680G>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371435	0.61624	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000468091	D;D;D;D;T;D;D;D	0.95447	-2.21;-2.21;-3.71;-2.21;-1.28;-2.21;-3.71;-1.52	5.52	5.52	0.82312	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94850	0.8336	N	0.08118	0	0.80722	D	1	D;D;P;D;D;D	0.71674	0.996;0.995;0.845;0.989;0.998;0.996	P;D;P;D;D;D	0.81914	0.779;0.985;0.62;0.911;0.995;0.938	D	0.95806	0.8837	9	0.51188	T	0.08	.	19.7984	0.96495	0.0:0.0:1.0:0.0	.	894;568;515;568;569;895	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	L	894;895;569;568;515;515;568;212	ENSP00000386043:V894L;ENSP00000346467:V895L;ENSP00000374653:V569L;ENSP00000393057:V568L;ENSP00000384373:V515L;ENSP00000385359:V515L;ENSP00000384091:V568L;ENSP00000417591:V212L	ENSP00000346467:V895L	V	+	1	0	LTBP1	33352289	1.000000	0.71417	0.943000	0.38184	0.035000	0.12851	8.122000	0.89584	2.753000	0.94483	0.467000	0.42956	GTG		0.358	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		4	32	0	0	0	1	0	4	32				
SI	6476	broad.mit.edu	37	3	164735341	164735341	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:164735341G>T	ENST00000264382.3	-	31	3816	c.3754C>A	c.(3754-3756)Ccc>Acc	p.P1252T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1252	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CATACATAGGGGATGTTAGCA	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3754-3756)Ccc>Acc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						55.0	54.0	54.0					3																	164735341		2203	4297	6500	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735341G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3754C>A	3.37:g.164735341G>T	ENSP00000264382:p.Pro1252Thr	HNSCC(35;0.089)					p.P1252T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			31	3816	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1252			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3754C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590930	0.46214	.	.	ENSG00000090402	ENST00000264382	D	0.96073	-3.9	5.31	4.44	0.53790	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	H	0.98295	4.195	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.99421	1.0933	10	0.87932	D	0	.	14.3873	0.66953	0.0708:0.0:0.9292:0.0	.	1252	P14410	SUIS_HUMAN	T	1252	ENSP00000264382:P1252T	ENSP00000264382:P1252T	P	-	1	0	SI	166218035	1.000000	0.71417	0.938000	0.37757	0.055000	0.15305	6.855000	0.75445	1.485000	0.48380	-0.191000	0.12829	CCC		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	35	1	0	0.00909568	1	0.00998677	4	35				
ADAD1	132612	broad.mit.edu	37	4	123314743	123314743	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:123314743G>T	ENST00000296513.2	+	6	714		c.e6-1		ADAD1_ENST00000388724.2_Splice_Site|ADAD1_ENST00000492454.1_Splice_Site|ADAD1_ENST00000388725.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGTTTACAGGTCCTCCTCC	0.318																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.e6-1		adenosine deaminase domain containing 1 (testis-specific)							90.0	93.0	92.0					4																	123314743		2203	4297	6500	SO:0001630	splice_region_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123314743G>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.530-1G>T	4.37:g.123314743G>T						ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site|ADAD1_ENST00000492454.1_Splice_Site		NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			6	714	+								A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Splice_Site	SNP	ENST00000296513.2	37		CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165132	0.57476	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4969	0.55933	0.077:0.0:0.923:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAD1	123534193	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.424000	0.66464	2.833000	0.97629	0.591000	0.81541	.		0.318	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	Intron	6	27	1	0	0.217242	1	0.220847	6	27				
MYCBP2	23077	broad.mit.edu	37	13	77754439	77754439	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:77754439G>T	ENST00000544440.2	-	34	4859	c.4842C>A	c.(4840-4842)atC>atA	p.I1614I	MYCBP2_ENST00000357337.6_Silent_p.I1614I|MYCBP2_ENST00000407578.2_Silent_p.I1652I|MYCBP2_ENST00000360084.5_5'UTR					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)		TCATCCCTGAGATATTCTCTT	0.393																																						ENST00000407578.2																			0				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						c.(4954-4956)atC>atA		MYC binding protein 2, E3 ubiquitin protein ligase							132.0	127.0	129.0					13																	77754439		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77754439G>T	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.4842C>A	13.37:g.77754439G>T						MYCBP2_ENST00000357337.6_Silent_p.I1614I|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.I1614I	p.I1652I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	34	5222	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1614						Silent	SNP	ENST00000544440.2	37	c.4956C>A																																																																																					0.393	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		8	63	1	0	1.26484e-09	1	2.0537e-09	8	63				
ASCC3	10973	broad.mit.edu	37	6	101076996	101076996	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:101076996T>C	ENST00000369162.2	-	27	4614	c.4270A>G	c.(4270-4272)Atc>Gtc	p.I1424V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1424	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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)		GTAGTGACGATAAGGTCAGCC	0.428																																						ENST00000369162.2																			0				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						c.(4270-4272)Atc>Gtc		activating signal cointegrator 1 complex subunit 3							114.0	93.0	100.0					6																	101076996		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101076996T>C	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.4270A>G	6.37:g.101076996T>C	ENSP00000358159:p.Ile1424Val						p.I1424V	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	27	4614	-		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)	1424			Helicase ATP-binding 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4270A>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.553279	0.86127	.	.	ENSG00000112249	ENST00000369162	T	0.11063	2.81	5.78	5.78	0.91487	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.086103	0.64402	D	0.000008	T	0.12092	0.0294	L	0.33792	1.035	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	T	0.14282	-1.0478	10	0.28530	T	0.3	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	1424	Q8N3C0	HELC1_HUMAN	V	1424	ENSP00000358159:I1424V	ENSP00000358159:I1424V	I	-	1	0	ASCC3	101183717	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	6.255000	0.72466	2.333000	0.79357	0.482000	0.46254	ATC		0.428	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		5	20	0	0	0	1	0	5	20				
CREBZF	58487	broad.mit.edu	37	11	85375310	85375310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:85375310G>A	ENST00000527447.1	-	1	836	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Nonsense_Mutation_p.Q122*|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	204	bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				gtcgccgcctggttgttgtcg	0.657											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(610-612)Cag>Tag		CREB/ATF bZIP transcription factor							12.0	15.0	14.0					11																	85375310		1930	4094	6024	SO:0001587	stop_gained	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375310G>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.610C>T	11.37:g.85375310G>A	ENSP00000433459:p.Gln204*		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Nonsense_Mutation_p.Q122*	p.Q204*	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	836	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	204					B2R8Q9|Q0P5U9|Q52LT3	Nonsense_Mutation	SNP	ENST00000527447.1	37	c.610C>T	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954328	0.73902	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.89	4.89	0.63831	.	0.000000	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.8103	10.6438	0.45608	0.0:0.0:0.8091:0.1909	.	.	.	.	X	122;204	.	.	Q	-	1	0	CREBZF	85052958	0.979000	0.34478	1.000000	0.80357	0.999000	0.98932	2.241000	0.43097	2.542000	0.85734	0.655000	0.94253	CAG		0.657	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		18	29	0	0	0	1	0	18	29				
CYP2B6	1555	broad.mit.edu	37	19	41509945	41509945	+	Nonsense_Mutation	SNP	G	G	T	rs267605494		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:41509945G>T	ENST00000324071.4	+	2	218	c.211G>T	c.(211-213)Gga>Tga	p.G71*	CYP2B6_ENST00000330446.5_Nonsense_Mutation_p.G31*|CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	71					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GGTACACCTGGGACCGAGGCC	0.557																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(211-213)Gga>Tga		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						59.0	60.0	59.0					19																	41509945		2203	4297	6500	SO:0001587	stop_gained	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41509945G>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.211G>T	19.37:g.41509945G>T	ENSP00000324648:p.Gly71*					CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Nonsense_Mutation_p.G31*|CYP2B6_ENST00000593831.1_5'UTR	p.G71*	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	218	+			71					B4DWP3|Q2V565|Q9UK46	Nonsense_Mutation	SNP	ENST00000324071.4	37	c.211G>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	37	6.010993	0.97200	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	.	.	.	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1265	0.65225	0.0:0.0:1.0:0.0	.	.	.	.	X	71;31	.	ENSP00000324648:G71X	G	+	1	0	CYP2B6	46201785	1.000000	0.71417	0.994000	0.49952	0.368000	0.29767	8.554000	0.90689	2.183000	0.69458	0.472000	0.43445	GGA		0.557	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		5	40	1	0	1.024e-07	1	1.58962e-07	5	40				
DCDC2	51473	broad.mit.edu	37	6	24357841	24357841	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:24357841G>C	ENST00000378454.3	-	1	439	c.138C>G	c.(136-138)gtC>gtG	p.V46V	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	46	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTTCAGGAAGACTTCGAAGC	0.627																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(136-138)gtC>gtG		doublecortin domain containing 2							45.0	45.0	45.0					6																	24357841		2203	4300	6503	SO:0001819	synonymous_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24357841G>C	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.138C>G	6.37:g.24357841G>C						KAAG1_ENST00000274766.1_5'UTR	p.V46V	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			1	439	-		Ovarian(999;0.101)	46			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	37	c.138C>G	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483436	0.26598	.	.	ENSG00000146038	ENST00000436313	.	.	.	5.66	2.81	0.32909	.	.	.	.	.	T	0.56848	0.2013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56294	-0.8003	4	.	.	.	-10.7854	13.7602	0.62961	0.0658:0.5967:0.3375:0.0	.	.	.	.	C	14	.	.	S	-	2	0	DCDC2	24465820	0.949000	0.32298	0.999000	0.59377	0.997000	0.91878	0.027000	0.13621	0.286000	0.22352	0.650000	0.86243	TCT		0.627	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		11	49	0	0	0	1	0	11	49				
UNC5C	8633	broad.mit.edu	37	4	96469911	96469911	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:96469911G>T	ENST00000453304.1	-	1	446	c.98C>A	c.(97-99)gCc>gAc	p.A33D	UNC5C_ENST00000504962.1_Missense_Mutation_p.A33D|UNC5C_ENST00000506749.1_Missense_Mutation_p.A33D|RP11-710C12.1_ENST00000605849.1_RNA	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	33					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTGCCGCTGGCGCTGAGCAG	0.667																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(97-99)gCc>gAc		unc-5 homolog C (C. elegans)							31.0	35.0	34.0					4																	96469911		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96469911G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.98C>A	4.37:g.96469911G>T	ENSP00000406022:p.Ala33Asp					UNC5C_ENST00000504962.1_Missense_Mutation_p.A33D|UNC5C_ENST00000506749.1_Missense_Mutation_p.A33D	p.A33D	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	1	446	-		Hepatocellular(203;0.114)	33					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.98C>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289693	0.80914	.	.	ENSG00000182168	ENST00000453304;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	4.76	4.76	0.60689	.	0.689201	0.13072	N	0.416049	T	0.43144	0.1234	N	0.22421	0.69	0.44073	D	0.996825	D;P;D	0.71674	0.998;0.909;0.998	D;P;D	0.73708	0.981;0.665;0.981	T	0.25537	-1.0129	10	0.33940	T	0.23	.	17.5932	0.88003	0.0:0.0:1.0:0.0	.	33;33;33	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	D	33	ENSP00000406022:A33D;ENSP00000426924:A33D;ENSP00000426153:A33D;ENSP00000425117:A33D	ENSP00000406022:A33D	A	-	2	0	UNC5C	96688934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.300000	0.59079	2.465000	0.83290	0.650000	0.86243	GCC		0.667	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		4	26	1	0	5.9392e-07	1	8.86059e-07	4	26				
ZNF804B	219578	broad.mit.edu	37	7	88963654	88963654	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:88963654C>A	ENST00000333190.4	+	4	1967	c.1358C>A	c.(1357-1359)aCc>aAc	p.T453N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	453							metal ion binding (GO:0046872)	p.T453N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATGGCCACACCACTCTTCAA	0.413										HNSCC(36;0.09)																												ENST00000333190.4																			1	Substitution - Missense(1)	p.T453N(1)	lung(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1357-1359)aCc>aAc		zinc finger protein 804B							74.0	71.0	72.0					7																	88963654		2200	4297	6497	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963654C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1358C>A	7.37:g.88963654C>A	ENSP00000329638:p.Thr453Asn	HNSCC(36;0.09)					p.T453N	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1967	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		453					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1358C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020717	0.54576	.	.	ENSG00000182348	ENST00000333190	T	0.11385	2.78	5.49	4.61	0.57282	.	0.167888	0.42548	D	0.000700	T	0.28234	0.0697	M	0.81497	2.545	0.34894	D	0.745798	D	0.59767	0.986	P	0.53760	0.734	T	0.52457	-0.8573	10	0.72032	D	0.01	-14.5818	15.8266	0.78711	0.1368:0.8632:0.0:0.0	.	453	A4D1E1	Z804B_HUMAN	N	453	ENSP00000329638:T453N	ENSP00000329638:T453N	T	+	2	0	ZNF804B	88801590	1.000000	0.71417	0.989000	0.46669	0.719000	0.41307	4.478000	0.60230	1.541000	0.49316	-0.182000	0.12963	ACC		0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		6	57	1	0	8.12818e-05	1	0.000104036	6	57				
PXDNL	137902	broad.mit.edu	37	8	52321180	52321180	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:52321180T>A	ENST00000356297.4	-	17	3104	c.3004A>T	c.(3004-3006)Agg>Tgg	p.R1002W	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1002W	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1002					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACGATCTTCCTGGCTTCCTGG	0.632																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3004-3006)Agg>Tgg		peroxidasin homolog (Drosophila)-like							26.0	32.0	30.0					8																	52321180		2088	4223	6311	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321180T>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3004A>T	8.37:g.52321180T>A	ENSP00000348645:p.Arg1002Trp					PXDNL_ENST00000543296.1_Missense_Mutation_p.R1002W	p.R1002W	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3104	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1002					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3004A>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844523	0.32606	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.88741	-2.42;-2.42	4.11	-1.91	0.07641	.	0.105576	0.40554	N	0.001072	D	0.95743	0.8615	H	0.99391	4.545	0.35216	D	0.775623	D	0.89917	1.0	D	0.97110	1.0	D	0.91894	0.5526	10	0.87932	D	0	.	5.5125	0.16888	0.0:0.1901:0.4616:0.3483	.	1002	A1KZ92	PXDNL_HUMAN	W	1002	ENSP00000348645:R1002W;ENSP00000444865:R1002W	ENSP00000348645:R1002W	R	-	1	2	PXDNL	52483733	0.773000	0.28580	0.372000	0.25991	0.050000	0.14768	0.094000	0.15107	-0.729000	0.04875	-0.250000	0.11733	AGG		0.632	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	10	0	0	0	1	0	3	10				
FREM1	158326	broad.mit.edu	37	9	14857642	14857642	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:14857642C>A	ENST00000380880.3	-	5	1520	c.737G>T	c.(736-738)cGt>cTt	p.R246L	FREM1_ENST00000422223.2_Missense_Mutation_p.R246L|FREM1_ENST00000380881.4_Missense_Mutation_p.R246L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	246					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGCTGATAACGAAGGCCCAT	0.468																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(736-738)cGt>cTt		FRAS1 related extracellular matrix 1							175.0	169.0	171.0					9																	14857642		1906	4130	6036	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14857642C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.737G>T	9.37:g.14857642C>A	ENSP00000370262:p.Arg246Leu					FREM1_ENST00000422223.2_Missense_Mutation_p.R246L|FREM1_ENST00000380880.3_Missense_Mutation_p.R246L	p.R246L			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	6	1552	-			246					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.737G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418794	0.62622	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.14893	2.47;2.48;2.48	6.17	4.33	0.51752	.	0.174822	0.50627	D	0.000106	T	0.36441	0.0967	M	0.77486	2.375	0.33406	D	0.577993	D	0.54772	0.968	P	0.57152	0.814	T	0.56968	-0.7891	10	0.72032	D	0.01	-4.5651	12.4402	0.55621	0.0:0.8637:0.0:0.1363	.	246	Q5H8C1	FREM1_HUMAN	L	246	ENSP00000370263:R246L;ENSP00000412940:R246L;ENSP00000370262:R246L	ENSP00000370257:R246L	R	-	2	0	FREM1	14847642	0.107000	0.21998	0.789000	0.31954	0.282000	0.26991	0.711000	0.25764	0.919000	0.36945	0.655000	0.94253	CGT		0.468	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		8	38	1	0	0.00307968	1	0.00354221	8	38				
ZNF785	146540	broad.mit.edu	37	16	30594427	30594427	+	Silent	SNP	G	G	A	rs560179586	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30594427G>A	ENST00000395216.2	-	3	831	c.672C>T	c.(670-672)ggC>ggT	p.G224G	AC002310.7_ENST00000492040.1_RNA|RP11-146F11.5_ENST00000563540.1_RNA|ZNF785_ENST00000470110.1_Silent_p.G209G|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGGGCTTCTCGCCGGTGTGGA	0.687													G|||	2	0.000399361	0.0	0.0	5008	,	,		16084	0.0		0.0	False		,,,				2504	0.002					ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(670-672)ggC>ggT		zinc finger protein 785							33.0	38.0	36.0					16																	30594427		2197	4299	6496	SO:0001819	synonymous_variant	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594427G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.672C>T	16.37:g.30594427G>A						AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Silent_p.G209G	p.G224G	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	831	-			224					O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000395216.2	37	c.672C>T	CCDS10685.1																																																																																				0.687	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		5	30	0	0	0	1	0	5	30				
SNTG2	54221	broad.mit.edu	37	2	1271305	1271305	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:1271305T>A	ENST00000308624.5	+	14	1375	c.1246T>A	c.(1246-1248)Ttc>Atc	p.F416I	SNTG2_ENST00000407292.1_Missense_Mutation_p.F289I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	416	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGAGAAGTCCTTCCAAAGAGC	0.547																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1246-1248)Ttc>Atc		syntrophin, gamma 2							41.0	41.0	41.0					2																	1271305		1975	4151	6126	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271305T>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1246T>A	2.37:g.1271305T>A	ENSP00000311837:p.Phe416Ile					SNTG2_ENST00000407292.1_Missense_Mutation_p.F289I	p.F416I	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	14	1375	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	416			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1246T>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388719	0.61956	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.77358	2.12;-1.09	4.61	4.61	0.57282	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.84374	0.5458	M	0.62016	1.91	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.81551	-0.0881	10	0.18276	T	0.48	.	13.6721	0.62432	0.0:0.0:0.0:1.0	.	289;416	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	I	416;289	ENSP00000311837:F416I;ENSP00000385020:F289I	ENSP00000311837:F416I	F	+	1	0	SNTG2	1253886	1.000000	0.71417	0.931000	0.37212	0.283000	0.27025	7.514000	0.81750	1.687000	0.51057	0.533000	0.62120	TTC		0.547	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		3	12	0	0	0	1	0	3	12				
ROS1	6098	broad.mit.edu	37	6	117677901	117677901	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:117677901G>A	ENST00000368508.3	-	25	4230	c.4032C>T	c.(4030-4032)acC>acT	p.T1344T	ROS1_ENST00000368507.3_Silent_p.T1339T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1344					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTAGGTTAGAGGTATCAATAG	0.408			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(4030-4032)acC>acT		c-ros oncogene 1 , receptor tyrosine kinase							207.0	168.0	181.0					6																	117677901		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117677901G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4032C>T	6.37:g.117677901G>A						ROS1_ENST00000368507.3_Silent_p.T1339T|GOPC_ENST00000467125.1_Intron	p.T1344T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	25	4230	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1344					Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.4032C>T	CCDS5116.1																																																																																				0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			9	53	0	0	0	1	0	9	53				
CRB1	23418	broad.mit.edu	37	1	197404338	197404338	+	Silent	SNP	T	T	C	rs62636278		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:197404338T>C	ENST00000367400.3	+	9	3480	c.3345T>C	c.(3343-3345)ggT>ggC	p.G1115G	CRB1_ENST00000535699.1_Silent_p.G1091G|CRB1_ENST00000367397.1_Silent_p.G496G|CRB1_ENST00000544212.1_Silent_p.G596G|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Silent_p.G1003G|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1115	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGTTCATGGTTTCATTAATA	0.398																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1486-1488)ggT>ggC		crumbs homolog 1 (Drosophila)							72.0	74.0	73.0					1																	197404338		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404338T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3345T>C	1.37:g.197404338T>C						CRB1_ENST00000367400.3_Silent_p.G1115G|CRB1_ENST00000367399.2_Silent_p.G1003G|CRB1_ENST00000544212.1_Silent_p.G596G|CRB1_ENST00000535699.1_Silent_p.G1091G|CRB1_ENST00000538660.1_Intron	p.G496G			P82279	CRUM1_HUMAN			5	2346	+			1115			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1488T>C	CCDS1390.1																																																																																				0.398	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		7	58	0	0	0	1	0	7	58				
PCLO	27445	broad.mit.edu	37	7	82579755	82579755	+	Missense_Mutation	SNP	C	C	G	rs149116161		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:82579755C>G	ENST00000333891.9	-	6	10486	c.10149G>C	c.(10147-10149)caG>caC	p.Q3383H	PCLO_ENST00000437081.1_Missense_Mutation_p.Q103H|PCLO_ENST00000423517.2_Missense_Mutation_p.Q3383H	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						GGGCAATGTACTGAGTAACAC	0.453																																						ENST00000423517.2																			0				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						c.(10147-10149)caG>caC		piccolo presynaptic cytomatrix protein							86.0	85.0	86.0					7																	82579755		1958	4144	6102	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579755C>G	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.10149G>C	7.37:g.82579755C>G	ENSP00000334319:p.Gln3383His					PCLO_ENST00000437081.1_Missense_Mutation_p.Q103H|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3383H	p.Q3383H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10486	-			3314						Missense_Mutation	SNP	ENST00000333891.9	37	c.10149G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.070	0.198486	0.09652	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.36340	2.2;2.2;1.26	5.45	1.23	0.21249	.	.	.	.	.	T	0.50718	0.1632	M	0.61703	1.905	0.31467	N	0.668818	D;D;D	0.76494	0.996;0.995;0.999	P;D;D	0.65443	0.846;0.912;0.935	T	0.55742	-0.8093	9	0.87932	D	0	.	8.6519	0.34040	0.0:0.4651:0.0:0.5349	.	3314;3383;3383	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	3314;3383;3383;103	ENSP00000334319:Q3383H;ENSP00000388393:Q3383H;ENSP00000393760:Q103H	ENSP00000334319:Q3383H	Q	-	3	2	PCLO	82417691	0.754000	0.28360	0.992000	0.48379	0.009000	0.06853	-0.289000	0.08365	0.277000	0.22141	-0.140000	0.14226	CAG		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	38	0	0	0	1	0	6	38				
FAM47C	442444	broad.mit.edu	37	X	37026587	37026587	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:37026587A>C	ENST00000358047.3	+	1	156	c.104A>C	c.(103-105)cAc>cCc	p.H35P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	35										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						AAGCGCAAGCACAGGCGCCTG	0.627																																						ENST00000358047.3																			0				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						c.(103-105)cAc>cCc		family with sequence similarity 47, member C							27.0	26.0	26.0					X																	37026587		2202	4296	6498	SO:0001583	missense	442444							g.chrX:37026587A>C	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.104A>C	X.37:g.37026587A>C	ENSP00000367913:p.His35Pro						p.H35P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	156	+			35					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.104A>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.439127	0.25900	.	.	ENSG00000198173	ENST00000358047	T	0.19394	2.15	0.462	0.462	0.16695	.	.	.	.	.	T	0.33789	0.0875	L	0.60455	1.87	0.09310	N	1	D	0.57257	0.979	P	0.61275	0.886	T	0.10543	-1.0625	8	0.52906	T	0.07	.	.	.	.	.	35	Q5HY64	FA47C_HUMAN	P	35	ENSP00000367913:H35P	ENSP00000367913:H35P	H	+	2	0	FAM47C	36936508	0.002000	0.14202	0.013000	0.15412	0.052000	0.14988	1.028000	0.30128	0.397000	0.25310	0.238000	0.17879	CAC		0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	13	0	0	0	1	0	4	13				
NBEA	26960	broad.mit.edu	37	13	35733267	35733267	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:35733267C>A	ENST00000400445.3	+	22	3493	c.2959C>A	c.(2959-2961)Ctt>Att	p.L987I	NBEA_ENST00000540320.1_Missense_Mutation_p.L987I|NBEA_ENST00000379939.2_Missense_Mutation_p.L987I|NBEA_ENST00000310336.4_Missense_Mutation_p.L987I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	987					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATCTCTGGTCTTTCATCACA	0.413																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(2959-2961)Ctt>Att		neurobeachin							111.0	104.0	106.0					13																	35733267		1931	4124	6055	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733267C>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2959C>A	13.37:g.35733267C>A	ENSP00000383295:p.Leu987Ile					NBEA_ENST00000379939.2_Missense_Mutation_p.L987I|NBEA_ENST00000540320.1_Missense_Mutation_p.L987I|NBEA_ENST00000310336.4_Missense_Mutation_p.L987I	p.L987I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	3493	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	987					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.2959C>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	9.935	1.215817	0.22373	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.26919	0.0659	N	0.02315	-0.6	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.08722	-1.0708	10	0.30078	T	0.28	.	19.1237	0.93374	0.0:1.0:0.0:0.0	.	987	Q5T321	.	I	987	ENSP00000440951:L987I;ENSP00000383295:L987I;ENSP00000369271:L987I;ENSP00000308534:L987I	ENSP00000308534:L987I	L	+	1	0	NBEA	34631267	1.000000	0.71417	0.798000	0.32154	0.996000	0.88848	6.066000	0.71185	2.522000	0.85027	0.650000	0.86243	CTT		0.413	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		8	41	1	0	5.18039e-06	1	7.33556e-06	8	41				
OR1G1	8390	broad.mit.edu	37	17	3030084	3030084	+	Silent	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:3030084A>T	ENST00000328890.2	-	1	791	c.762T>A	c.(760-762)acT>acA	p.T254T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	254					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CACAAAAAGAAGTCCCAAAGA	0.493																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(760-762)acT>acA		olfactory receptor, family 1, subfamily G, member 1							83.0	72.0	76.0					17																	3030084		2203	4300	6503	SO:0001819	synonymous_variant	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030084A>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.762T>A	17.37:g.3030084A>T							p.T254T	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	791	-			254					Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	c.762T>A	CCDS11020.1																																																																																				0.493	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			4	35	0	0	0	1	0	4	35				
NBEA	26960	broad.mit.edu	37	13	35517223	35517223	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr13:35517223G>C	ENST00000400445.3	+	1	800	c.266G>C	c.(265-267)aGg>aCg	p.R89T	NBEA_ENST00000540320.1_Missense_Mutation_p.R89T|NBEA_ENST00000379939.2_Missense_Mutation_p.R89T|NBEA_ENST00000310336.4_Missense_Mutation_p.R89T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	89					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTCAGCAACAGGGACATCGTG	0.577																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(265-267)aGg>aCg		neurobeachin							145.0	164.0	158.0					13																	35517223		2132	4243	6375	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35517223G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.266G>C	13.37:g.35517223G>C	ENSP00000383295:p.Arg89Thr					NBEA_ENST00000379939.2_Missense_Mutation_p.R89T|NBEA_ENST00000540320.1_Missense_Mutation_p.R89T|NBEA_ENST00000310336.4_Missense_Mutation_p.R89T	p.R89T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	1	800	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	89					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.266G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415583	0.83449	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.37	4.37	0.52481	.	0.000000	0.56097	D	0.000023	T	0.64886	0.2639	M	0.64567	1.98	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.69289	-0.5184	10	0.66056	D	0.02	.	15.9007	0.79373	0.0:0.0:1.0:0.0	.	89	Q5T321	.	T	89	ENSP00000440951:R89T;ENSP00000383295:R89T;ENSP00000369271:R89T;ENSP00000308534:R89T	ENSP00000308534:R89T	R	+	2	0	NBEA	34415223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.950000	0.93019	2.007000	0.58848	0.561000	0.74099	AGG		0.577	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		6	66	0	0	0	1	0	6	66				
FIGN	55137	broad.mit.edu	37	2	164468078	164468078	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:164468078G>T	ENST00000333129.3	-	3	578	c.264C>A	c.(262-264)ctC>ctA	p.L88L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	88					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						AATAGTTGCTGAGTACGGGTC	0.458																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(262-264)ctC>ctA		fidgetin							179.0	164.0	169.0					2																	164468078		1897	4119	6016	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468078G>T	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.264C>A	2.37:g.164468078G>T						FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	p.L88L	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	578	-			88					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.264C>A	CCDS2221.2																																																																																				0.458	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		12	134	1	0	0.38729	1	0.392414	12	134				
PCDHB7	56129	broad.mit.edu	37	5	140553068	140553068	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:140553068G>T	ENST00000231137.3	+	1	826	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	218	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)	p.G218S(1)|p.G218C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTAGACGGCGGCTCTCCTCC	0.537																																						ENST00000231137.3																			2	Substitution - Missense(2)	p.G218S(1)|p.G218C(1)	upper_aerodigestive_tract(1)|lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(652-654)Ggc>Tgc									64.0	64.0	64.0					5																	140553068		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553068G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.652G>T	5.37:g.140553068G>T	ENSP00000231137:p.Gly218Cys						p.G218C	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	826	+			218			Cadherin 2.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.652G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657757	0.47467	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01804	4.63	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26955	0.0660	H	0.99890	4.9	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.63111	-0.6710	9	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	218	Q9Y5E2	PCDB7_HUMAN	C	218;1	ENSP00000231137:G218C	ENSP00000231137:G218C	G	+	1	0	PCDHB7	140533252	1.000000	0.71417	0.988000	0.46212	0.034000	0.12701	9.787000	0.99055	2.248000	0.74166	0.655000	0.94253	GGC		0.537	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	47	1	0	0.000157383	1	0.000199497	8	47				
CCSER1	401145	broad.mit.edu	37	4	91230659	91230659	+	Silent	SNP	A	A	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:91230659A>G	ENST00000509176.1	+	2	1512	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	CCSER1_ENST00000333691.8_Silent_p.K408K|CCSER1_ENST00000432775.2_Silent_p.K408K	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	408																	AACATGTAAAAGGGATCCATC	0.358																																						ENST00000509176.1																			0											c.(1222-1224)aaA>aaG		coiled-coil serine-rich protein 1							116.0	113.0	114.0					4																	91230659		1861	4087	5948	SO:0001819	synonymous_variant	401145							g.chr4:91230659A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1224A>G	4.37:g.91230659A>G						CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K	p.K408K	NM_001145065.1	NP_001138537.1					2	1512	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1224A>G	CCDS47099.1																																																																																				0.358	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		7	69	0	0	0	1	0	7	69				
TMEM5	10329	broad.mit.edu	37	12	64196035	64196035	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr12:64196035T>A	ENST00000261234.6	+	4	751	c.593T>A	c.(592-594)gTt>gAt	p.V198D	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	198						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CATCTTGCTGTTGTTTTGCTC	0.363																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(592-594)gTt>gAt		transmembrane protein 5							80.0	78.0	79.0					12																	64196035		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64196035T>A	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.593T>A	12.37:g.64196035T>A	ENSP00000261234:p.Val198Asp					TMEM5_ENST00000537373.1_5'UTR	p.V198D	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	4	751	+		Myeloproliferative disorder(1001;0.0255)	198					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.593T>A	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.821731	0.71028	.	.	ENSG00000118600	ENST00000261234	T	0.32753	1.44	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59648	-0.7415	9	.	.	.	-33.994	15.2813	0.73787	0.0:0.0:0.0:1.0	.	198	Q9Y2B1	TMEM5_HUMAN	D	198	ENSP00000261234:V198D	.	V	+	2	0	TMEM5	62482302	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.523000	0.81856	2.146000	0.66826	0.482000	0.46254	GTT		0.363	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		12	49	0	0	0	1	0	12	49				
LRRC6	23639	broad.mit.edu	37	8	133673704	133673704	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133673704A>T	ENST00000519595.1	-	2	277		c.e2+1		LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site			Q86X45	TILB_HUMAN	leucine rich repeat containing 6						cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTGAAACTTACCAATTTTCC	0.318																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.e2+1		leucine rich repeat containing 6							34.0	36.0	35.0					8																	133673704		2203	4300	6503	SO:0001630	splice_region_variant	23639					cytoplasm		g.chr8:133673704A>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.178+1T>A	8.37:g.133673704A>T						LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000250173.1_Splice_Site				Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		2	277	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)							Q13648|Q4G183	Splice_Site	SNP	ENST00000519595.1	37			.	.	.	.	.	.	.	.	.	.	A	21.9	4.211250	0.79240	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7743	0.78198	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC6	133742886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.507000	0.90522	2.321000	0.78463	0.529000	0.55759	.		0.318	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472	Intron	5	19	0	0	0	1	0	5	19				
TRBV6-7	28600	broad.mit.edu	37	7	142143669	142143669	+	RNA	SNP	G	G	C	rs182876698		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142143669G>C	ENST00000390373.2	-	0	326									T cell receptor beta variable 6-7 (non-functional)																		TGCTGGCACAGAAGTAAACAG	0.532																																						ENST00000390373.2																			0																																																			28600							g.chr7:142143669G>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143669G>C														0	326	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.532	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		16	59	0	0	0	1	0	16	59				
CHSY3	337876	broad.mit.edu	37	5	129521390	129521390	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:129521390G>T	ENST00000305031.4	+	3	2913	c.2555G>T	c.(2554-2556)gGa>gTa	p.G852V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	852					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATGTGCTTAGGATCCAAGGCA	0.448																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(2554-2556)gGa>gTa		chondroitin sulfate synthase 3							81.0	78.0	79.0					5																	129521390		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521390G>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2555G>T	5.37:g.129521390G>T	ENSP00000302629:p.Gly852Val						p.G852V	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2913	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	852					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.2555G>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911495	0.52439	.	.	ENSG00000198108	ENST00000305031	T	0.17054	2.3	4.06	4.06	0.47325	.	0.000000	0.47093	D	0.000242	T	0.46776	0.1410	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.53995	-0.8359	9	.	.	.	.	17.5595	0.87902	0.0:0.0:1.0:0.0	.	852	Q70JA7	CHSS3_HUMAN	V	852	ENSP00000302629:G852V	.	G	+	2	0	CHSY3	129549289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.807000	0.86032	2.557000	0.86248	0.650000	0.86243	GGA		0.448	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		12	37	1	0	6.40141e-05	1	8.33271e-05	12	37				
LRRC6	23639	broad.mit.edu	37	8	133673835	133673835	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:133673835C>G	ENST00000519595.1	-	2	147	c.49G>C	c.(49-51)Gac>Cac	p.D17H	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.D17H|LRRC6_ENST00000518642.1_Missense_Mutation_p.D17H			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	17					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGACACAGTCGTTGTGTTCA	0.363																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(49-51)Gac>Cac		leucine rich repeat containing 6							67.0	65.0	65.0					8																	133673835		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133673835C>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.49G>C	8.37:g.133673835C>G	ENSP00000429791:p.Asp17His					LRRC6_ENST00000518642.1_Missense_Mutation_p.D17H|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.D17H	p.D17H			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		2	147	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		17					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.49G>C		.	.	.	.	.	.	.	.	.	.	C	15.54	2.864650	0.51482	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.55588	0.51;0.51;0.51	6.06	3.29	0.37713	.	0.285320	0.42964	D	0.000622	T	0.52901	0.1763	L	0.49778	1.585	0.40241	D	0.977961	D	0.57899	0.981	P	0.53062	0.717	T	0.55296	-0.8163	10	0.52906	T	0.07	-15.196	6.6468	0.22939	0.0:0.6464:0.0:0.3536	.	17	Q86X45	LRRC6_HUMAN	H	17	ENSP00000429791:D17H;ENSP00000428610:D17H;ENSP00000250173:D17H	ENSP00000250173:D17H	D	-	1	0	LRRC6	133743017	0.986000	0.35501	0.996000	0.52242	0.968000	0.65278	2.182000	0.42556	1.581000	0.49865	-0.140000	0.14226	GAC		0.363	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		6	27	0	0	0	1	0	6	27				
ABCA12	26154	broad.mit.edu	37	2	215840691	215840691	+	Silent	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:215840691G>C	ENST00000272895.7	-	34	5418	c.5199C>G	c.(5197-5199)ctC>ctG	p.L1733L	ABCA12_ENST00000389661.4_Silent_p.L1415L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1733					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACCTCTTGATGAGTATAGCCA	0.478																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(5197-5199)ctC>ctG		ATP-binding cassette, sub-family A (ABC1), member 12							156.0	137.0	143.0					2																	215840691		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215840691G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5199C>G	2.37:g.215840691G>C						ABCA12_ENST00000389661.4_Silent_p.L1415L	p.L1733L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	34	5418	-		Renal(323;0.127)	1733					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.5199C>G	CCDS33372.1																																																																																				0.478	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	43	0	0	0	1	0	4	43				
MORC1	27136	broad.mit.edu	37	3	108773671	108773671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:108773671G>A	ENST00000483760.1	-	14	1277	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	MORC1_ENST00000232603.5_Missense_Mutation_p.H412Y					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTTATTATGGGATGGTTCC	0.388																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1234-1236)Cat>Tat		MORC family CW-type zinc finger 1							145.0	139.0	141.0					3																	108773671		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773671G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1234C>T	3.37:g.108773671G>A	ENSP00000417282:p.His412Tyr					MORC1_ENST00000483760.1_Missense_Mutation_p.H412Y	p.H412Y	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			14	1316	-			412						Missense_Mutation	SNP	ENST00000483760.1	37	c.1234C>T		.	.	.	.	.	.	.	.	.	.	G	23.0	4.359975	0.82353	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.08102	3.13;3.13	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000083	T	0.20941	0.0504	M	0.74389	2.26	0.50039	D	0.999842	D;P	0.67145	0.996;0.956	P;P	0.52031	0.688;0.507	T	0.00411	-1.1756	10	0.49607	T	0.09	-10.9608	16.0217	0.80503	0.0:0.0:1.0:0.0	.	412;412	E7ERX1;Q86VD1	.;MORC1_HUMAN	Y	412	ENSP00000232603:H412Y;ENSP00000417282:H412Y	ENSP00000232603:H412Y	H	-	1	0	MORC1	110256361	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.464000	0.90380	2.638000	0.89438	0.650000	0.86243	CAT		0.388	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			8	69	0	0	0	1	0	8	69				
FAM170A	340069	broad.mit.edu	37	5	118970399	118970399	+	Missense_Mutation	SNP	G	G	T	rs554831567		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:118970399G>T	ENST00000515256.1	+	3	1128	c.956G>T	c.(955-957)gGc>gTc	p.G319V				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	319					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAATGTCCAGGCTGTGTGTTT	0.557																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(955-957)gGc>gTc		family with sequence similarity 170, member A							82.0	102.0	95.0					5																	118970399		1992	4117	6109	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970399G>T	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.956G>T	5.37:g.118970399G>T	ENSP00000422684:p.Gly319Val						p.G319V			A1A519	F170A_HUMAN			3	1128	+			319					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.956G>T		.	.	.	.	.	.	.	.	.	.	G	16.83	3.231214	0.58777	.	.	ENSG00000164334	ENST00000515256	T	0.33654	1.4	4.11	3.23	0.37069	.	0.000000	0.44688	D	0.000440	T	0.52224	0.1721	M	0.63428	1.95	0.49915	D	0.999839	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.50074	-0.8870	9	.	.	.	-2.2962	9.4632	0.38798	0.0:0.0:0.7892:0.2108	.	272;319	D6RIE9;A1A519	.;F170A_HUMAN	V	319	ENSP00000422684:G319V	.	G	+	2	0	FAM170A	118998298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.568000	0.36418	1.301000	0.44836	0.655000	0.94253	GGC		0.557	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		8	31	1	0	5.18039e-06	1	7.33556e-06	8	31				
HDAC6	10013	broad.mit.edu	37	X	48674002	48674002	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:48674002G>T	ENST00000334136.5	+	16	1455	c.1277G>T	c.(1276-1278)tGt>tTt	p.C426F	HDAC6_ENST00000444343.2_Missense_Mutation_p.C440F|HDAC6_ENST00000376619.2_Missense_Mutation_p.C426F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	426					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCAGTTTCCTGTGCTCTGGAA	0.612																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1276-1278)tGt>tTt		histone deacetylase 6	Vorinostat(DB02546)						88.0	74.0	79.0					X																	48674002		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48674002G>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1277G>T	X.37:g.48674002G>T	ENSP00000334061:p.Cys426Phe					HDAC6_ENST00000444343.2_Missense_Mutation_p.C440F|HDAC6_ENST00000376619.2_Missense_Mutation_p.C426F	p.C426F			Q9UBN7	HDAC6_HUMAN			16	1455	+			426					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1277G>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640907	0.67244	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.59224	0.28;0.28;0.28	5.5	3.62	0.41486	.	0.432841	0.25932	N	0.027377	T	0.59569	0.2203	L	0.60455	1.87	0.09310	N	0.999999	D;P;D	0.69078	0.997;0.937;0.997	P;P;P	0.52672	0.706;0.658;0.706	T	0.53823	-0.8384	10	0.56958	D	0.05	-9.0475	7.6566	0.28379	0.0967:0.166:0.7374:0.0	.	416;74;426	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	F	440;426;426;426	ENSP00000398566:C440F;ENSP00000334061:C426F;ENSP00000365804:C426F	ENSP00000334061:C426F	C	+	2	0	HDAC6	48558946	0.119000	0.22226	0.261000	0.24466	0.822000	0.46500	0.647000	0.24812	2.439000	0.82584	0.544000	0.68410	TGT		0.612	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		5	20	1	0	0.184627	1	0.188945	5	20				
BMPER	168667	broad.mit.edu	37	7	34192759	34192759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:34192759G>C	ENST00000297161.2	+	16	2306	c.1932G>C	c.(1930-1932)aaG>aaC	p.K644N	BMPER_ENST00000426693.1_Missense_Mutation_p.K644N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	644	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GATGTATCAAGACGTGTGACA	0.512																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1930-1932)aaG>aaC		BMP binding endothelial regulator							229.0	195.0	206.0					7																	34192759		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34192759G>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1932G>C	7.37:g.34192759G>C	ENSP00000297161:p.Lys644Asn					BMPER_ENST00000426693.1_Missense_Mutation_p.K644N	p.K644N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			16	2306	+			644			TIL.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1932G>C	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350391	0.61183	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	D;D	0.91011	-2.77;-2.77	5.92	5.04	0.67666	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	L	0.48218	1.51	0.54753	D	0.999983	D	0.76494	0.999	D	0.72338	0.977	D	0.90099	0.4183	10	0.25106	T	0.35	.	11.7165	0.51657	0.1514:0.0:0.8486:0.0	.	644	Q8N8U9	BMPER_HUMAN	N	644	ENSP00000297161:K644N;ENSP00000393950:K644N	ENSP00000297161:K644N	K	+	3	2	BMPER	34159284	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.733000	0.47360	1.521000	0.48983	0.467000	0.42956	AAG		0.512	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		8	78	0	0	0	1	0	8	78				
LARP4B	23185	broad.mit.edu	37	10	863665	863665	+	Splice_Site	SNP	C	C	A	rs201148474		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:863665C>A	ENST00000316157.3	-	14	1735	c.1695G>T	c.(1693-1695)agG>agT	p.R565S	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	565					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TATCCCTTACCCTTTCTTTGG	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22288	0.0		0.0	False		,,,				2504	0.0					ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.e14+1		La ribonucleoprotein domain family, member 4B							228.0	244.0	238.0					10																	863665		2203	4300	6503	SO:0001630	splice_region_variant	23185						nucleotide binding|RNA binding	g.chr10:863665C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1695+1G>T	10.37:g.863665C>A							p.R565_splice	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			14	1735	-			565					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Splice_Site	SNP	ENST00000316157.3	37	c.1695_splice	CCDS31131.1	1|1|1	4.578754578754579E-4|4.578754578754579E-4|4.578754578754579E-4	0|0|0	0.0|0.0|0.0	1|1|1	0.0027624309392265192|0.0027624309392265192|0.0027624309392265192	0|0|0	0.0|0.0|0.0	0|0|0	0.0|0.0|0.0	C|C|C	17.36|17.36|17.36	3.370278|3.370278|3.370278	0.61624|0.61624|0.61624	.|.|.	.|.|.	ENSG00000107929|ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000440895|ENST00000316157	.|.|T	.|.|0.33216	.|.|1.42	6.11|6.11|6.11	3.84|3.84|3.84	0.44239|0.44239|0.44239	.|.|.	.|.|0.128605	.|.|0.64402	.|.|D	.|.|0.000001	T|T|T	0.17450|0.17450|0.17450	0.0419|0.0419|0.0419	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.52501|0.52501|0.52501	D|D|D	0.999959|0.999959|0.999959	.|.|P	.|.|0.45594	.|.|0.862	.|.|B	.|.|0.39185	.|.|0.293	T|T|T	0.02676|0.02676|0.02676	-1.1125|-1.1125|-1.1125	5|5|9	.|.|.	.|.|.	.|.|.	-14.921|-14.921|-14.921	7.8054|7.8054|7.8054	0.29200|0.29200|0.29200	0.0:0.6422:0.0:0.3578|0.0:0.6422:0.0:0.3578|0.0:0.6422:0.0:0.3578	.|.|.	.|.|565	.|.|Q92615	.|.|LAR4B_HUMAN	Y|V|S	131|41|565	.|.|ENSP00000326128:R565S	.|.|.	D|G|R	-|-|-	1|2|3	0|0|2	LARP4B|LARP4B|LARP4B	853665|853665|853665	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.317000|0.317000|0.317000	0.28152|0.28152|0.28152	3.362000|3.362000|3.362000	0.52314|0.52314|0.52314	1.465000|1.465000|1.465000	0.48006|0.48006|0.48006	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|GGA|AGG		0.438	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	Missense_Mutation	16	145	1	0	6.31663e-08	1	9.83895e-08	16	145				
KCNA4	3739	broad.mit.edu	37	11	30034131	30034131	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:30034131C>A	ENST00000328224.6	-	2	1328	c.95G>T	c.(94-96)aGg>aTg	p.R32M	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	32					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTGAGCAAGCCTCTCCCGCTC	0.647																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(94-96)aGg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 4							52.0	55.0	54.0					11																	30034131		1909	4105	6014	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034131C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.95G>T	11.37:g.30034131C>A	ENSP00000328511:p.Arg32Met						p.R32M	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1328	-			32						Missense_Mutation	SNP	ENST00000328224.6	37	c.95G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556460	0.86231	.	.	ENSG00000182255	ENST00000328224	D	0.97976	-4.64	4.97	4.97	0.65823	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	58.694300	0.00166	N	0.000000	D	0.98160	0.9392	N	0.24115	0.695	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	D	0.90440	0.4431	10	0.87932	D	0	.	18.2674	0.90056	0.0:1.0:0.0:0.0	.	32	P22459	KCNA4_HUMAN	M	32	ENSP00000328511:R32M	ENSP00000328511:R32M	R	-	2	0	KCNA4	29990707	0.990000	0.36364	0.965000	0.40720	0.971000	0.66376	4.759000	0.62227	2.309000	0.77851	0.655000	0.94253	AGG		0.647	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		9	70	1	0	5.4927e-09	1	8.79407e-09	9	70				
EPHA7	2045	broad.mit.edu	37	6	93979302	93979302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:93979302G>C	ENST00000369303.4	-	7	1710	c.1526C>G	c.(1525-1527)aCa>aGa	p.T509R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	509	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AACATACACTGTTCCTGGTTT	0.398																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1525-1527)aCa>aGa		EPH receptor A7							151.0	150.0	150.0					6																	93979302		2203	4299	6502	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93979302G>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1526C>G	6.37:g.93979302G>C	ENSP00000358309:p.Thr509Arg						p.T509R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	7	1710	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	509			Fibronectin type-III 2.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1526C>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920917	0.92249	.	.	ENSG00000135333	ENST00000369303	T	0.61274	0.12	5.99	5.99	0.97316	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.85130	0.986;0.994;0.997	D	0.83855	0.0265	10	0.66056	D	0.02	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	509;509;509	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	R	509	ENSP00000358309:T509R	ENSP00000358309:T509R	T	-	2	0	EPHA7	94036023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	ACA		0.398	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			9	77	0	0	0	1	0	9	77				
MYH4	4622	broad.mit.edu	37	17	10357072	10357072	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:10357072G>C	ENST00000255381.2	-	23	2932	c.2822C>G	c.(2821-2823)aCa>aGa	p.T941R	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	941					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCTTGGCTGTCAGCTCAGC	0.438																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2821-2823)aCa>aGa		myosin, heavy chain 4, skeletal muscle							384.0	358.0	366.0					17																	10357072		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357072G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2822C>G	17.37:g.10357072G>C	ENSP00000255381:p.Thr941Arg					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.T941R	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			23	2932	-			941						Missense_Mutation	SNP	ENST00000255381.2	37	c.2822C>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421619	0.62622	.	.	ENSG00000141048	ENST00000255381	D	0.88975	-2.45	5.38	5.38	0.77491	.	0.000000	0.38436	U	0.001683	D	0.92116	0.7501	M	0.81682	2.555	0.80722	D	1	P	0.44986	0.847	P	0.47206	0.541	D	0.92890	0.6330	10	0.66056	D	0.02	.	19.5104	0.95139	0.0:0.0:1.0:0.0	.	941	Q9Y623	MYH4_HUMAN	R	941	ENSP00000255381:T941R	ENSP00000255381:T941R	T	-	2	0	MYH4	10297797	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	9.701000	0.98710	2.690000	0.91761	0.655000	0.94253	ACA		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		18	176	0	0	0	1	0	18	176				
NLRP9	338321	broad.mit.edu	37	19	56249551	56249551	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:56249551G>T	ENST00000332836.2	-	1	217	c.190C>A	c.(190-192)Cca>Aca	p.P64T	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	64	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCTTTCCTGGGTAATGTTTG	0.463																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(190-192)Cca>Aca		NLR family, pyrin domain containing 9							415.0	411.0	413.0					19																	56249551		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56249551G>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.190C>A	19.37:g.56249551G>T	ENSP00000331857:p.Pro64Thr						p.P64T	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	217	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	64			DAPIN.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.190C>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022034	0.35701	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.51574	0.7	3.63	-0.109	0.13584	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.53594	0.1806	M	0.74389	2.26	0.09310	N	1	P	0.47910	0.902	P	0.53035	0.716	T	0.43782	-0.9370	9	0.29301	T	0.29	.	6.1818	0.20476	0.1126:0.4674:0.42:0.0	.	64	Q7RTR0	NALP9_HUMAN	T	64	ENSP00000331857:P64T	ENSP00000331857:P64T	P	-	1	0	NLRP9	60941363	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	0.085000	0.14912	0.104000	0.17725	0.650000	0.86243	CCA		0.463	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		36	337	1	0	1.22384e-17	1	2.08279e-17	36	337				
OR2W5	441932	broad.mit.edu	37	1	247655379	247655379	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:247655379G>A	ENST00000522351.1	+	0	1010							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)			GCCTCAACGAGGGGAACACTC	0.498																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															49.0	53.0	51.0					1																	247655379		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655379G>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.247655379G>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	1010	+	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)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.498	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		6	55	0	0	0	1	0	6	55				
BNIP3P1	319138	broad.mit.edu	37	14	28733843	28733843	+	RNA	SNP	A	A	C	rs10135219	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:28733843A>C	ENST00000550043.1	+	0	248									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		ATAATGGGAAAGGGGGCAGTG	0.542													-|||	1323	0.264177	0.3464	0.3674	5008	,	,		15677	0.1835		0.2565	False		,,,				2504	0.1708					ENST00000550043.1																			0																																																			319138							g.chr14:28733843A>C			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733843A>C														0	248	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.542	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			3	29	0	0	0	1	0	3	29				
GLRA3	8001	broad.mit.edu	37	4	175565066	175565066	+	Silent	SNP	G	G	T	rs142571571	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:175565066G>T	ENST00000274093.3	-	10	1768	c.1266C>A	c.(1264-1266)atC>atA	p.I422I	GLRA3_ENST00000340217.5_Silent_p.I407I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	422					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.I422I(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TGGCCCGGTCGATAAAGACCT	0.438																																						ENST00000274093.3																			1	Substitution - coding silent(1)	p.I422I(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1264-1266)atC>atA		glycine receptor, alpha 3	Glycine(DB00145)						155.0	135.0	142.0					4																	175565066		2203	4300	6503	SO:0001819	synonymous_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175565066G>T	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1266C>A	4.37:g.175565066G>T						GLRA3_ENST00000340217.5_Silent_p.I407I	p.I422I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1768	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	422					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.1266C>A	CCDS3822.1																																																																																				0.438	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			15	85	1	0	3.27435e-08	1	5.14381e-08	15	85				
DIXDC1	85458	broad.mit.edu	37	11	111864411	111864411	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:111864411C>A	ENST00000440460.2	+	15	1678	c.1381C>A	c.(1381-1383)Cta>Ata	p.L461I	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.L250I	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	462					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGAGCGAGAGCTAGAACACAA	0.458																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(1381-1383)Cta>Ata		DIX domain containing 1							88.0	85.0	86.0					11																	111864411		1935	4134	6069	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111864411C>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1381C>A	11.37:g.111864411C>A	ENSP00000394352:p.Leu461Ile					DIXDC1_ENST00000315253.5_Missense_Mutation_p.L250I|DIXDC1_ENST00000389821.4_3'UTR	p.L461I	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	15	1678	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	462					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.1381C>A		.	.	.	.	.	.	.	.	.	.	C	18.21	3.574225	0.65878	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.21543	2.0;2.0	5.35	3.47	0.39725	.	0.213136	0.38436	N	0.001681	T	0.42765	0.1217	.	.	.	0.43025	D	0.994586	B;B;D	0.76494	0.326;0.326;0.999	B;B;D	0.77557	0.113;0.113;0.99	T	0.27606	-1.0069	9	0.51188	T	0.08	-17.7225	10.0318	0.42105	0.0:0.8415:0.0:0.1585	.	127;250;462	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	I	461;250	ENSP00000394352:L461I;ENSP00000314068:L250I	ENSP00000314068:L250I	L	+	1	2	DIXDC1	111369621	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.596000	0.24044	0.735000	0.32537	0.650000	0.86243	CTA		0.458	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		11	23	1	0	3.86212e-05	1	5.09224e-05	11	23				
ZNF43	7594	broad.mit.edu	37	19	21990520	21990520	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:21990520T>C	ENST00000354959.4	-	4	2488	c.2319A>G	c.(2317-2319)caA>caG	p.Q773Q	ZNF43_ENST00000595461.1_Silent_p.Q767Q|ZNF43_ENST00000598381.1_Silent_p.Q767Q|ZNF43_ENST00000594012.1_Silent_p.Q767Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	773					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGTTTGAATATTGGTTGAAAG	0.338																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(2299-2301)caA>caG		zinc finger protein 43							69.0	70.0	69.0					19																	21990520		2203	4300	6503	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990520T>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2319A>G	19.37:g.21990520T>C						ZNF43_ENST00000354959.4_Silent_p.Q773Q|ZNF43_ENST00000598381.1_Silent_p.Q767Q|ZNF43_ENST00000595461.1_Silent_p.Q767Q	p.Q767Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2815	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	773					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.2301A>G	CCDS12413.2																																																																																				0.338	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		3	22	0	0	0	1	0	3	22				
LRRC66	339977	broad.mit.edu	37	4	52869413	52869413	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:52869413G>A	ENST00000343457.3	-	2	648	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	214						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGTCCTTGAAGGCTTGTGGGG	0.343																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(640-642)gcC>gcT		leucine rich repeat containing 66							106.0	98.0	100.0					4																	52869413		1811	4070	5881	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52869413G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.642C>T	4.37:g.52869413G>A							p.A214A	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			2	648	-			214						Silent	SNP	ENST00000343457.3	37	c.642C>T	CCDS43229.1																																																																																				0.343	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	51	0	0	0	1	0	5	51				
ST6GAL2	84620	broad.mit.edu	37	2	107460128	107460128	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:107460128G>T	ENST00000409382.3	-	2	916	c.306C>A	c.(304-306)tcC>tcA	p.S102S	ST6GAL2_ENST00000409087.3_Silent_p.S102S|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.S102S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	102					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S102S(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCCATCTTGGGACTGGGCCC	0.587																																						ENST00000409382.3																			2	Substitution - coding silent(2)	p.S102S(2)	lung(2)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(304-306)tcC>tcA		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							44.0	53.0	50.0					2																	107460128		2189	4289	6478	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460128G>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.306C>A	2.37:g.107460128G>T						ST6GAL2_ENST00000361686.4_Silent_p.S102S|ST6GAL2_ENST00000409087.3_Silent_p.S102S	p.S102S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	916	-			102					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.306C>A	CCDS2073.1																																																																																				0.587	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		7	70	1	0	5.18039e-06	1	7.33556e-06	7	70				
TIGD2	166815	broad.mit.edu	37	4	90035011	90035011	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:90035011G>A	ENST00000317005.2	+	1	1044	c.886G>A	c.(886-888)Gca>Aca	p.A296T	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	296	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTCCCCCCAGCACGTCCAAA	0.413																																						ENST00000317005.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14						c.(886-888)Gca>Aca		tigger transposable element derived 2							67.0	67.0	67.0					4																	90035011		2202	4299	6501	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90035011G>A	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.886G>A	4.37:g.90035011G>A	ENSP00000317170:p.Ala296Thr						p.A296T	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	1044	+		Hepatocellular(203;0.114)	296			DDE.			Missense_Mutation	SNP	ENST00000317005.2	37	c.886G>A	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	5.452	0.268505	0.10349	.	.	ENSG00000180346	ENST00000317005	T	0.47869	0.83	4.49	3.6	0.41247	.	0.000000	0.44902	D	0.000403	T	0.34019	0.0883	L	0.39514	1.22	0.25349	N	0.988883	B	0.22851	0.076	B	0.25884	0.064	T	0.09443	-1.0674	10	0.34782	T	0.22	-6.1135	5.5828	0.17258	0.1019:0.0:0.7016:0.1965	.	296	Q4W5G0	TIGD2_HUMAN	T	296	ENSP00000317170:A296T	ENSP00000317170:A296T	A	+	1	0	TIGD2	90254034	0.168000	0.22989	0.996000	0.52242	0.813000	0.45954	1.658000	0.37376	2.329000	0.79093	0.557000	0.71058	GCA		0.413	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		6	44	0	0	0	1	0	6	44				
TRIM37	4591	broad.mit.edu	37	17	57057541	57057541	+	IGR	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:57057541C>A	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.R473S	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGCATCAGCTCGTGATGCTGG	0.463									Mulibrey Nanism																													ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1417-1419)Cgt>Agt		protein phosphatase, Mg2+/Mn2+ dependent, 1E							135.0	110.0	118.0					17																	57057541		2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57057541C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057541C>A							p.R473S	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	1546	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		482			PP2C-like.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	c.1417C>A	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170255	0.78452	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.17054	2.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	L	0.45744	1.44	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.74674	0.934;0.984	T	0.00880	-1.1529	10	0.39692	T	0.17	-0.4794	19.8464	0.96708	0.0:1.0:0.0:0.0	.	482;473	Q8WY54-3;Q8WY54-2	.;.	S	473;324	ENSP00000312411:R473S	ENSP00000312411:R473S	R	+	1	0	PPM1E	54412323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.710000	0.92621	0.491000	0.48974	CGT		0.463	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		15	60	1	0	2.31682e-05	1	3.13112e-05	15	60				
IGKC	3514	broad.mit.edu	37	2	89156940	89156940	+	RNA	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:89156940G>T	ENST00000390237.2	-	0	256				AC096579.13_ENST00000452230.1_RNA|AC096579.7_ENST00000430694.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TGACTTCGCAGGCGTAGACTT	0.572																																						ENST00000452230.1																			0																				99.0	97.0	98.0					2																	89156940		2114	4231	6345			0							g.chr2:89156940G>T	J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89156940G>T						AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA								0	39	-									RNA	SNP	ENST00000390237.2	37																																																																																						0.572	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000323482.1	NG_000834		6	44	1	0	3.59834e-05	1	4.79257e-05	6	44				
SYNJ2	8871	broad.mit.edu	37	6	158485661	158485661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:158485661G>A	ENST00000355585.4	+	10	1313	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	SYNJ2_ENST00000449859.2_Missense_Mutation_p.G341E|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G413E|SYNJ2_ENST00000367121.3_Missense_Mutation_p.G413E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	413	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAGACCCTGGGGCTGAGTTCA	0.572																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1237-1239)gGg>gAg		synaptojanin 2							114.0	117.0	116.0					6																	158485661		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158485661G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1238G>A	6.37:g.158485661G>A	ENSP00000347792:p.Gly413Glu					SYNJ2_ENST00000367121.3_Missense_Mutation_p.G413E|SYNJ2_ENST00000449859.2_Missense_Mutation_p.G341E|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G413E	p.G413E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	10	1313	+			413			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1238G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374643	0.61735	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.35	5.35	0.76521	Synaptojanin, N-terminal (1);	0.000000	0.64402	D	0.000005	T	0.28665	0.0710	M	0.78049	2.395	0.38286	D	0.942564	P;B;P;P	0.38335	0.627;0.037;0.627;0.532	B;B;B;P	0.46172	0.424;0.017;0.309;0.506	T	0.07986	-1.0744	10	0.49607	T	0.09	.	14.3567	0.66742	0.0731:0.0:0.9269:0.0	.	341;413;413;413	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	E	413;413;413;341	ENSP00000356089:G413E;ENSP00000356088:G413E;ENSP00000347792:G413E;ENSP00000388371:G341E	ENSP00000347792:G413E	G	+	2	0	SYNJ2	158405649	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	6.333000	0.72939	1.246000	0.43901	0.555000	0.69702	GGG		0.572	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			6	73	0	0	0	1	0	6	73				
CHN2	1124	broad.mit.edu	37	7	29440186	29440186	+	Silent	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:29440186G>A	ENST00000222792.6	+	6	848	c.318G>A	c.(316-318)agG>agA	p.R106R	CHN2_ENST00000539406.1_Silent_p.R181R|CHN2_ENST00000495789.2_Silent_p.R119R|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Silent_p.R91R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	106	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TAAACTACAGGCTCTTCCACG	0.438																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(316-318)agG>agA		chimerin 2							96.0	91.0	93.0					7																	29440186		2203	4300	6503	SO:0001819	synonymous_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29440186G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.318G>A	7.37:g.29440186G>A						CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Silent_p.R119R|CHN2_ENST00000539406.1_Silent_p.R181R|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Silent_p.R91R	p.R106R	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			6	848	+			106			SH2.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	c.318G>A	CCDS5420.1																																																																																				0.438	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		6	64	0	0	0	1	0	6	64				
KIF5C	3800	broad.mit.edu	37	2	149857292	149857292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:149857292C>G	ENST00000435030.1	+	21	2737	c.2369C>G	c.(2368-2370)aCa>aGa	p.T790R	KIF5C_ENST00000397413.1_Missense_Mutation_p.T558R|KIF5C_ENST00000414838.2_Missense_Mutation_p.T695R|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	790					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGGAGGAGACAGTGGTATGT	0.413																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2368-2370)aCa>aGa		kinesin family member 5C							207.0	193.0	197.0					2																	149857292		1884	4117	6001	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149857292C>G	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2369C>G	2.37:g.149857292C>G	ENSP00000393379:p.Thr790Arg					KIF5C_ENST00000397413.1_Missense_Mutation_p.T558R|KIF5C_ENST00000414838.2_Missense_Mutation_p.T695R|KIF5C_ENST00000464066.1_3'UTR	p.T790R			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	21	2737	+			790					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2369C>G		.	.	.	.	.	.	.	.	.	.	C	27.6	4.847114	0.91277	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.75260	-0.92;-0.92;-0.92	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.86611	0.5974	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.945	D	0.86533	0.1823	8	.	.	.	.	18.7534	0.91823	0.0:1.0:0.0:0.0	.	790;98	O60282;Q59GB8	KIF5C_HUMAN;.	R	790;695;693;558	ENSP00000393379:T790R;ENSP00000410115:T695R;ENSP00000380560:T558R	.	T	+	2	0	KIF5C	149565538	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.627000	0.83176	2.659000	0.90383	0.655000	0.94253	ACA		0.413	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		6	62	0	0	0	1	0	6	62				
CD209	30835	broad.mit.edu	37	19	7810929	7810929	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:7810929C>T	ENST00000315599.7	-	4	245	c.223G>A	c.(223-225)Gac>Aac	p.D75N	CD209_ENST00000601951.1_Missense_Mutation_p.D51N|CD209_ENST00000602261.1_Missense_Mutation_p.D75N|CD209_ENST00000394173.4_Missense_Mutation_p.D75N|CD209_ENST00000593660.1_Missense_Mutation_p.D51N|CD209_ENST00000593821.1_Missense_Mutation_p.D31N|CD209_ENST00000204801.8_Missense_Mutation_p.D31N|CD209_ENST00000315591.8_Missense_Mutation_p.D51N|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.D75N|CD209_ENST00000601256.1_Missense_Mutation_p.D51N|CD209_ENST00000301357.8_Missense_Mutation_p.D31N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	75					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGATCGCGTCTTGCCTGGAT	0.507																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(223-225)Gac>Aac		CD209 molecule							173.0	172.0	172.0					19																	7810929		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810929C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.223G>A	19.37:g.7810929C>T	ENSP00000315477:p.Asp75Asn					CD209_ENST00000601256.1_Missense_Mutation_p.D51N|CD209_ENST00000301357.8_Missense_Mutation_p.D31N|CD209_ENST00000602261.1_Missense_Mutation_p.D75N|CD209_ENST00000601951.1_Missense_Mutation_p.D51N|CD209_ENST00000593660.1_Missense_Mutation_p.D51N|CD209_ENST00000593821.1_Missense_Mutation_p.D31N|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.D75N|CD209_ENST00000204801.8_Missense_Mutation_p.D31N|CD209_ENST00000354397.6_Missense_Mutation_p.D75N|CD209_ENST00000315591.8_Missense_Mutation_p.D51N	p.D75N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	245	-			75					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.223G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917017	0.33815	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T;T	0.16743	4.02;4.46;3.98;3.98;2.32;4.11	0.842	0.842	0.18927	.	.	.	.	.	T	0.24774	0.0601	L	0.36672	1.1	0.09310	N	0.999999	P;P;D;P;P;P;P;P;B;D;P	0.67145	0.749;0.917;0.99;0.954;0.454;0.837;0.597;0.749;0.397;0.996;0.95	B;P;D;D;B;P;P;B;B;D;P	0.73708	0.141;0.547;0.96;0.954;0.272;0.64;0.465;0.275;0.363;0.981;0.775	T	0.09840	-1.0656	9	0.45353	T	0.12	.	4.9921	0.14220	0.0:1.0:0.0:0.0	.	75;75;51;31;31;51;75;75;51;51;75	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	N	75;75;51;31;75;31;59	ENSP00000315477:D75N;ENSP00000346373:D75N;ENSP00000315407:D51N;ENSP00000204801:D31N;ENSP00000377728:D75N;ENSP00000301357:D31N	ENSP00000204801:D31N	D	-	1	0	CD209	7716929	0.017000	0.18338	0.002000	0.10522	0.002000	0.02628	1.565000	0.36386	0.738000	0.32606	0.455000	0.32223	GAC		0.507	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		12	76	0	0	0	1	0	12	76				
OR4A16	81327	broad.mit.edu	37	11	55111430	55111430	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:55111430T>C	ENST00000314721.2	+	1	804	c.754T>C	c.(754-756)Tgt>Cgt	p.C252R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTTCCCTGTATTTTTAT	0.373																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(754-756)Tgt>Cgt		olfactory receptor, family 4, subfamily A, member 16							169.0	156.0	160.0					11																	55111430		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111430T>C	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.754T>C	11.37:g.55111430T>C	ENSP00000325128:p.Cys252Arg						p.C252R	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	804	+			252					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.754T>C	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	12.31	1.900673	0.33535	.	.	ENSG00000181961	ENST00000314721	T	0.00099	8.73	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	H	0.94698	3.57	0.48395	D	0.999648	D	0.89917	1.0	D	0.79784	0.993	T	0.61163	-0.7118	9	0.87932	D	0	.	9.1065	0.36701	0.0:0.0:0.0:1.0	.	252	Q8NH70	O4A16_HUMAN	R	252	ENSP00000325128:C252R	ENSP00000325128:C252R	C	+	1	0	OR4A16	54868006	0.000000	0.05858	0.997000	0.53966	0.513000	0.34164	-1.300000	0.02751	1.312000	0.45043	0.346000	0.21813	TGT		0.373	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		9	77	0	0	0	1	0	9	77				
EMILIN2	84034	broad.mit.edu	37	18	2909754	2909754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:2909754G>T	ENST00000254528.3	+	7	2920	c.2761G>T	c.(2761-2763)Ggg>Tgg	p.G921W	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	921	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCCCAGTGATGGGGGCGTTGT	0.557																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2761-2763)Ggg>Tgg		elastin microfibril interfacer 2							121.0	110.0	114.0					18																	2909754		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2909754G>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2761G>T	18.37:g.2909754G>T	ENSP00000254528:p.Gly921Trp					EMILIN2_ENST00000308080.5_3'UTR	p.G921W	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	7	2920	+			921			C1q.		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2761G>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368378	0.24771	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.29655	1.56	5.8	0.997	0.19851	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.822118	0.10982	N	0.612624	T	0.37046	0.0989	L	0.41492	1.28	0.09310	N	1	D	0.63880	0.993	P	0.60173	0.87	T	0.19976	-1.0289	10	0.37606	T	0.19	-9.9616	6.8426	0.23971	0.2573:0.1162:0.6266:0.0	.	921	Q9BXX0	EMIL2_HUMAN	W	921;198	ENSP00000254528:G921W	ENSP00000254528:G921W	G	+	1	0	EMILIN2	2899754	0.001000	0.12720	0.000000	0.03702	0.167000	0.22549	0.966000	0.29331	-0.097000	0.12307	-0.140000	0.14226	GGG		0.557	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		4	50	1	0	0.00024832	1	0.000309642	4	50				
CACNA1D	776	broad.mit.edu	37	3	53814125	53814125	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:53814125G>T	ENST00000350061.5	+	38	5171	c.4660G>T	c.(4660-4662)Gtt>Ttt	p.V1554F	CACNA1D_ENST00000540742.1_Missense_Mutation_p.V446F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1539F|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1574F	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1554					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTTGCTTTGGTTCGAACGGC	0.468																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(4720-4722)Gtt>Ttt		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						189.0	159.0	169.0					3																	53814125		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53814125G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4660G>T	3.37:g.53814125G>T	ENSP00000288133:p.Val1554Phe					CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1554F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V446F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1539F	p.V1574F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	39	4838	+			1554					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.4720G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371098	0.95923	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97328	-4.12;-4.16;-4.14;-4.16;-4.34	5.97	5.97	0.96955	.	0.074576	0.52532	D	0.000070	D	0.98760	0.9583	M	0.88570	2.965	0.80722	D	1	D;P;P;D;P	0.89917	1.0;0.889;0.865;0.998;0.82	D;P;P;D;P	0.81914	0.995;0.867;0.703;0.985;0.843	D	0.99198	1.0872	10	0.87932	D	0	.	20.4964	0.99207	0.0:0.0:1.0:0.0	.	1539;446;1247;1554;1574	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	F	1554;1574;1539;1247;446	ENSP00000288133:V1554F;ENSP00000288139:V1574F;ENSP00000409174:V1539F;ENSP00000418014:V1247F;ENSP00000438229:V446F	ENSP00000288139:V1574F	V	+	1	0	CACNA1D	53789165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.859000	0.99545	2.848000	0.98002	0.638000	0.83543	GTT		0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		8	25	1	0	1.06961e-07	1	1.64929e-07	8	25				
HIPK2	28996	broad.mit.edu	37	7	139288949	139288949	+	Silent	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:139288949G>T	ENST00000406875.3	-	10	2227	c.2133C>A	c.(2131-2133)acC>acA	p.T711T	HIPK2_ENST00000342645.6_Silent_p.T711T|HIPK2_ENST00000428878.2_Silent_p.T684T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	711	Interaction with SKI and SMAD1.			T -> N (in Ref. 4; AAG35710). {ECO:0000305}.	adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGATCTGCTGGGTCCCACTTG	0.532																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2131-2133)acC>acA		homeodomain interacting protein kinase 2							127.0	130.0	129.0					7																	139288949		2123	4231	6354	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139288949G>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2133C>A	7.37:g.139288949G>T						HIPK2_ENST00000342645.6_Silent_p.T711T|HIPK2_ENST00000428878.2_Silent_p.T684T	p.T711T	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			10	2227	-	Melanoma(164;0.205)		711	T -> N (in Ref. 4; AAG35710).		Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2133C>A																																																																																					0.532	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		8	92	1	0	3.09899e-07	1	4.6688e-07	8	92				
TAS2R1	50834	broad.mit.edu	37	5	9629281	9629281	+	Silent	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr5:9629281T>C	ENST00000382492.2	-	1	1182	c.864A>G	c.(862-864)gcA>gcG	p.A288A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	288					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGAACTTTTTTGCATTTTGTT	0.393																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(862-864)gcA>gcG		taste receptor, type 2, member 1							94.0	96.0	95.0					5																	9629281		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629281T>C	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.864A>G	5.37:g.9629281T>C						CTD-2001E22.1_ENST00000504182.2_RNA	p.A288A	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	1182	-			288					Q646G8	Silent	SNP	ENST00000382492.2	37	c.864A>G	CCDS3876.1																																																																																				0.393	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			9	57	0	0	0	1	0	9	57				
OR9A2	135924	broad.mit.edu	37	7	142724147	142724147	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:142724147T>C	ENST00000350513.2	-	1	135	c.73A>G	c.(73-75)Att>Gtt	p.I25V		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	25						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(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GCAAAAAGAATGTGGTGTAGT	0.423																																						ENST00000350513.2																			0				central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(73-75)Att>Gtt		olfactory receptor, family 9, subfamily A, member 2							84.0	84.0	84.0					7																	142724147		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724147T>C		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.73A>G	7.37:g.142724147T>C	ENSP00000316518:p.Ile25Val						p.I25V	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	135	-	Melanoma(164;0.059)		25					B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.73A>G	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	T	4.452	0.083659	0.08533	.	.	ENSG00000179468	ENST00000350513	T	0.00438	7.42	4.12	-1.67	0.08238	.	1.301920	0.06096	N	0.664442	T	0.00210	0.0006	N	0.25286	0.73	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36383	-0.9750	10	0.05620	T	0.96	-8.993	4.9358	0.13939	0.1741:0.4762:0.0:0.3497	.	25	Q8NGT5	OR9A2_HUMAN	V	25	ENSP00000316518:I25V	ENSP00000316518:I25V	I	-	1	0	OR9A2	142434269	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.959000	0.01518	-0.397000	0.07691	-0.531000	0.04308	ATT		0.423	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			7	46	0	0	0	1	0	7	46				
EVC2	132884	broad.mit.edu	37	4	5627630	5627630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:5627630C>T	ENST00000344408.5	-	13	1945	c.1892G>A	c.(1891-1893)gGg>gAg	p.G631E	EVC2_ENST00000310917.2_Missense_Mutation_p.G551E|EVC2_ENST00000344938.1_Missense_Mutation_p.G631E	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	631					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATCCAGGTACCCTGCTCTAGA	0.418																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1651-1653)gGg>gAg		Ellis van Creveld syndrome 2							109.0	100.0	103.0					4																	5627630		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5627630C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1892G>A	4.37:g.5627630C>T	ENSP00000342144:p.Gly631Glu					EVC2_ENST00000344938.1_Missense_Mutation_p.G631E|EVC2_ENST00000344408.5_Missense_Mutation_p.G631E	p.G551E	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			13	2383	-			631					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1652G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092108	0.55968	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.82433	-1.61;-1.61;-1.61	5.42	4.57	0.56435	.	0.203527	0.34628	N	0.003811	D	0.88325	0.6406	M	0.64997	1.995	0.47037	D	0.999292	D	0.71674	0.998	D	0.79108	0.992	D	0.86309	0.1685	10	0.29301	T	0.29	-34.1199	12.7896	0.57526	0.0:0.9217:0.0:0.0783	.	631	Q86UK5	LBN_HUMAN	E	631;551;631	ENSP00000339954:G631E;ENSP00000311683:G551E;ENSP00000342144:G631E	ENSP00000311683:G551E	G	-	2	0	EVC2	5678531	1.000000	0.71417	0.589000	0.28718	0.454000	0.32378	4.417000	0.59822	1.284000	0.44531	0.650000	0.86243	GGG		0.418	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		3	25	0	0	0	1	0	3	25				
USP29	57663	broad.mit.edu	37	19	57640633	57640633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:57640633C>T	ENST00000254181.4	+	4	1044	c.590C>T	c.(589-591)aCa>aTa	p.T197I	USP29_ENST00000598197.1_Missense_Mutation_p.T197I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	197					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATATAAGACAGATTCCTTG	0.368																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(589-591)aCa>aTa		ubiquitin specific peptidase 29							82.0	87.0	85.0					19																	57640633		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640633C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.590C>T	19.37:g.57640633C>T	ENSP00000254181:p.Thr197Ile					USP29_ENST00000598197.1_Missense_Mutation_p.T197I	p.T197I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1044	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	197						Missense_Mutation	SNP	ENST00000254181.4	37	c.590C>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	9.347	1.064641	0.20067	.	.	ENSG00000131864	ENST00000254181	T	0.49720	0.77	2.79	-1.04	0.10068	.	1.727080	0.04149	U	0.320975	T	0.39332	0.1074	L	0.52573	1.65	0.09310	N	1	P	0.36438	0.553	B	0.32289	0.143	T	0.37430	-0.9706	10	0.66056	D	0.02	0.1748	5.7129	0.17945	0.3926:0.4268:0.1806:0.0	.	197	Q9HBJ7	UBP29_HUMAN	I	197	ENSP00000254181:T197I	ENSP00000254181:T197I	T	+	2	0	USP29	62332445	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.156000	0.10100	-0.156000	0.11079	0.591000	0.81541	ACA		0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			12	43	0	0	0	1	0	12	43				
PMS2CL	441194	broad.mit.edu	37	7	6776818	6776818	+	RNA	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:6776818G>A	ENST00000486256.1	+	0	945					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		TCCATTTCCAGACTGCGAGAG	0.483																																						ENST00000486256.1																			0																																																			441194							g.chr7:6776818G>A	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6776818G>A								NR_002217.1						0	945	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.483	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		6	42	0	0	0	1	0	6	42				
CNBD1	168975	broad.mit.edu	37	8	88366014	88366014	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr8:88366014G>T	ENST00000518476.1	+	10	1354	c.1303G>T	c.(1303-1305)Gtg>Ttg	p.V435L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	435										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGACCTATTTGGTAAATGCAT	0.289																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.e10+1		cyclic nucleotide binding domain containing 1							77.0	73.0	74.0					8																	88366014		1818	4069	5887	SO:0001630	splice_region_variant	168975							g.chr8:88366014G>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1303+1G>T	8.37:g.88366014G>T							p.V435_splice	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			10	1354	+			435						Splice_Site	SNP	ENST00000518476.1	37	c.1303_splice	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.77|15.77	2.930312|2.930312	0.52866|0.52866	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000523299;ENST00000521593|ENST00000518476	.|T	.|0.20598	.|2.06	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Cyclic nucleotide-binding domain (1);	.|.	.|.	.|.	.|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.08118|0.08118	0|0	0.26679|0.26679	N|N	0.971575|0.971575	.|D	.|0.56968	.|0.978	.|D	.|0.63793	.|0.918	T|T	0.19811|0.19811	-1.0294|-1.0294	5|9	.|0.45353	.|T	.|0.12	-0.0641|-0.0641	13.8061|13.8061	0.63233|0.63233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|435	.|Q8NA66	.|CNBD1_HUMAN	F|L	126;71|435	.|ENSP00000430073:V435L	.|ENSP00000430073:V435L	L|V	+|+	3|1	2|0	CNBD1|CNBD1	88435130|88435130	0.975000|0.975000	0.34042|0.34042	0.235000|0.235000	0.24058|0.24058	0.119000|0.119000	0.20118|0.20118	1.765000|1.765000	0.38481|0.38481	2.319000|2.319000	0.78375|0.78375	0.555000|0.555000	0.69702|0.69702	TTG|GTG		0.289	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	Missense_Mutation	3	26	1	0	0.004672	1	0.00531382	3	26				
EPB41L2	2037	broad.mit.edu	37	6	131206291	131206291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:131206291C>T	ENST00000337057.3	-	12	1959	c.1778G>A	c.(1777-1779)aGg>aAg	p.R593K	EPB41L2_ENST00000525193.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000530757.1_5'Flank|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R593K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R593K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	593	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CACTTCCCTCCTGCCGTCCCC	0.468											OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1777-1779)aGg>aAg		erythrocyte membrane protein band 4.1-like 2							163.0	156.0	159.0					6																	131206291		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131206291C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1778G>A	6.37:g.131206291C>T	ENSP00000338481:p.Arg593Lys		OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1586	EPB41L2_ENST00000525271.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R593K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R593K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R593K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R593K	p.R593K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	12	1959	-	Breast(56;0.0639)		593			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1778G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908536	0.33721	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;T;D;D;T;D;D;D	0.82711	-1.64;-1.61;-1.64;-1.54;-1.03;-1.54;-1.61;-1.03;-1.58;-1.61;-1.61	5.29	4.41	0.53225	.	1.434620	0.03511	N	0.219641	T	0.73590	0.3606	M	0.65498	2.005	0.34637	D	0.720273	B;B;B;B;P	0.35456	0.043;0.089;0.043;0.009;0.502	B;B;B;B;B	0.38296	0.025;0.098;0.027;0.006;0.27	T	0.58601	-0.7608	10	0.09338	T	0.73	.	13.9906	0.64364	0.0:0.7122:0.2878:0.0	.	593;593;593;593;593	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	K	593	ENSP00000434308:R593K;ENSP00000434576:R593K;ENSP00000402041:R593K;ENSP00000338481:R593K;ENSP00000376222:R593K;ENSP00000357110:R593K;ENSP00000436348:R593K;ENSP00000432803:R593K;ENSP00000431988:R593K;ENSP00000431647:R593K;ENSP00000436641:R593K	ENSP00000338481:R593K	R	-	2	0	EPB41L2	131247984	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.974000	0.29436	1.340000	0.45581	0.655000	0.94253	AGG		0.468	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			8	55	0	0	0	1	0	8	55				
TTN	7273	broad.mit.edu	37	2	179476362	179476362	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:179476362C>A	ENST00000591111.1	-	219	45895	c.45671G>T	c.(45670-45672)gGg>gTg	p.G15224V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7925V|TTN_ENST00000589042.1_Missense_Mutation_p.G16865V|TTN_ENST00000460472.2_Missense_Mutation_p.G7800V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14297V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7992V			Q8WZ42	TITIN_HUMAN	titin	15224	Fibronectin type-III 11. {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)			GTGTTTTCTCCCAGCATCAGT	0.433																																						ENST00000589042.1																			0				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						c.(50593-50595)gGg>gTg		titin							98.0	93.0	95.0					2																	179476362		1902	4128	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476362C>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.45671G>T	2.37:g.179476362C>A	ENSP00000465570:p.Gly15224Val					TTN_ENST00000591111.1_Missense_Mutation_p.G15224V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7800V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7992V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14297V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7925V|TTN-AS1_ENST00000589234.1_RNA	p.G16865V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	50818	-			15224			Fibronectin type-III 22.		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.50594G>T		.	.	.	.	.	.	.	.	.	.	C	12.27	1.887926	0.33348	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65249	0.2673	L	0.42581	1.335	0.58432	D	0.999998	D;D;D;D	0.54772	0.968;0.968;0.968;0.968	P;P;P;P	0.52031	0.688;0.688;0.688;0.688	T	0.65479	-0.6158	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	7800;7925;7992;15224	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	14297;7800;7992;7925;7800	ENSP00000343764:G14297V;ENSP00000434586:G7800V;ENSP00000340554:G7992V;ENSP00000352154:G7925V	ENSP00000340554:G7992V	G	-	2	0	TTN	179184607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.862000	0.69560	2.941000	0.99782	0.655000	0.94253	GGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	71	1	0	1.58986e-06	1	2.32287e-06	11	71				
PLXNA1	5361	broad.mit.edu	37	3	126751349	126751349	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:126751349G>T	ENST00000393409.2	+	29	5351	c.5351G>T	c.(5350-5352)tGc>tTc	p.C1784F	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.C1761F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1784					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATGGACTCCTGCTCCACCTCT	0.557																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5281-5283)tGc>tTc		plexin A1							131.0	117.0	121.0					3																	126751349		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751349G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5351G>T	3.37:g.126751349G>T	ENSP00000377061:p.Cys1784Phe					PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000393409.2_Missense_Mutation_p.C1784F	p.C1761F			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	29	5351	+			1784						Missense_Mutation	SNP	ENST00000393409.2	37	c.5282G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225799	0.79576	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	4.01	4.01	0.46588	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49542	-0.8929	10	0.87932	D	0	.	16.675	0.85276	0.0:0.0:1.0:0.0	.	398;1784	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	F	1784;1761	ENSP00000377061:C1784F;ENSP00000251772:C1761F	ENSP00000251772:C1761F	C	+	2	0	PLXNA1	128234039	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.508000	0.98000	2.216000	0.71823	0.467000	0.42956	TGC		0.557	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		9	53	1	0	0.000274275	1	0.00034016	9	53				
HEPHL1	341208	broad.mit.edu	37	11	93837916	93837916	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:93837916G>A	ENST00000315765.9	+	16	2913	c.2905G>A	c.(2905-2907)Gcc>Acc	p.A969T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	969	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGAATGCATGGTATATCCAA	0.398																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.e16+1		hephaestin-like 1							111.0	108.0	109.0					11																	93837916		1852	4099	5951	SO:0001630	splice_region_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93837916G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2905+1G>A	11.37:g.93837916G>A							p.A969_splice	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			16	2913	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	969			Plastocyanin-like 6.		Q3C1W7	Splice_Site	SNP	ENST00000315765.9	37	c.2905_splice	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361806	0.82353	.	.	ENSG00000181333	ENST00000315765	D	0.98732	-5.1	5.66	5.66	0.87406	Cupredoxin (2);	0.291997	0.37715	N	0.001976	D	0.98639	0.9544	L	0.56199	1.76	0.47659	D	0.999485	D	0.76494	0.999	D	0.75484	0.986	D	0.98333	1.0534	10	0.11182	T	0.66	-18.8016	19.7324	0.96188	0.0:0.0:1.0:0.0	.	969	Q6MZM0	HPHL1_HUMAN	T	969	ENSP00000313699:A969T	ENSP00000313699:A969T	A	+	1	0	HEPHL1	93477564	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	6.163000	0.71880	2.663000	0.90544	0.655000	0.94253	GCC		0.398	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	Missense_Mutation	6	81	0	0	0	1	0	6	81				
XIRP2	129446	broad.mit.edu	37	2	168102625	168102625	+	Missense_Mutation	SNP	G	G	A	rs374546171		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:168102625G>A	ENST00000409195.1	+	9	4812	c.4723G>A	c.(4723-4725)Gat>Aat	p.D1575N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1353N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1575N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1400					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAGCTGATGAAATAGG	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4723-4725)Gat>Aat		xin actin-binding repeat containing 2							45.0	43.0	43.0					2																	168102625		1823	4089	5912	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102625G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4723G>A	2.37:g.168102625G>A	ENSP00000386840:p.Asp1575Asn					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1353N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1575N	p.D1575N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4812	+			1400					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4723G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	9.664	1.144791	0.21288	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02525	4.27;4.27;4.26	5.56	1.95	0.26073	.	0.210057	0.47455	N	0.000232	T	0.02380	0.0073	N	0.26130	0.795	0.46458	D	0.999051	B;B;B	0.27997	0.012;0.021;0.197	B;B;B	0.25759	0.004;0.009;0.063	T	0.56595	-0.7953	10	0.22109	T	0.4	-7.4929	11.7184	0.51668	0.2396:0.0:0.7604:0.0	.	1400;1400;1353	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1575;1575;1353	ENSP00000386840:D1575N;ENSP00000295237:D1575N;ENSP00000387255:D1353N	ENSP00000295237:D1575N	D	+	1	0	XIRP2	167810871	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.691000	0.47010	0.584000	0.29591	0.563000	0.77884	GAT		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	46	0	0	0	1	0	10	46				
NEUROD6	63974	broad.mit.edu	37	7	31378147	31378147	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr7:31378147T>A	ENST00000297142.3	-	2	1058	c.736A>T	c.(736-738)Agt>Tgt	p.S246C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	246					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GGGGAAGTACTTTCATAGAAG	0.468																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(736-738)Agt>Tgt		neuronal differentiation 6							78.0	74.0	75.0					7																	31378147		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378147T>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.736A>T	7.37:g.31378147T>A	ENSP00000297142:p.Ser246Cys						p.S246C	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1058	-			246					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.736A>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.248576	0.59103	.	.	ENSG00000164600	ENST00000297142	T	0.65549	-0.16	5.32	5.32	0.75619	Neurogenic differentiation factor, domain of unknown function (1);	0.039770	0.85682	D	0.000000	T	0.77274	0.4106	M	0.77313	2.365	0.58432	D	0.999999	D	0.69078	0.997	P	0.61477	0.889	T	0.80926	-0.1164	10	0.72032	D	0.01	-13.9294	15.2875	0.73838	0.0:0.0:0.0:1.0	.	246	Q96NK8	NDF6_HUMAN	C	246	ENSP00000297142:S246C	ENSP00000297142:S246C	S	-	1	0	NEUROD6	31344672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.008000	0.58898	0.528000	0.53228	AGT		0.468	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		5	53	0	0	0	1	0	5	53				
DCC	1630	broad.mit.edu	37	18	50918126	50918126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr18:50918126G>T	ENST00000442544.2	+	17	3173	c.2557G>T	c.(2557-2559)Gtg>Ttg	p.V853L	DCC_ENST00000581580.1_Missense_Mutation_p.V488L|DCC_ENST00000412726.1_Missense_Mutation_p.V681L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	853	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTACAGGCTGTGGCTCTTAC	0.542																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2557-2559)Gtg>Ttg		deleted in colorectal carcinoma							148.0	135.0	140.0					18																	50918126		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50918126G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2557G>T	18.37:g.50918126G>T	ENSP00000389140:p.Val853Leu					DCC_ENST00000412726.1_Missense_Mutation_p.V681L|DCC_ENST00000581580.1_Missense_Mutation_p.V488L	p.V853L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	17	3173	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	853			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2557G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169914	0.38315	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.56776	0.44;0.44	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.40595	0.1123	N	0.11313	0.125	0.39394	D	0.966463	B;B;B	0.18013	0.0;0.0;0.025	B;B;B	0.31869	0.012;0.012;0.137	T	0.31081	-0.9956	10	0.32370	T	0.25	.	17.8905	0.88870	0.0:0.0:1.0:0.0	.	681;681;853	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	853;681	ENSP00000389140:V853L;ENSP00000397322:V681L	ENSP00000397322:V681L	V	+	1	0	DCC	49172124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.640000	0.61368	2.506000	0.84524	0.557000	0.71058	GTG		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		9	84	1	0	3.09899e-07	1	4.6688e-07	9	84				
APOB	338	broad.mit.edu	37	2	21234969	21234969	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:21234969A>T	ENST00000233242.1	-	26	4898	c.4771T>A	c.(4771-4773)Ttc>Atc	p.F1591I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1591					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTAGAGAAGGTCATATCC	0.413																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4771-4773)Ttc>Atc		apolipoprotein B	Atorvastatin(DB01076)						102.0	90.0	94.0					2																	21234969		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234969A>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4771T>A	2.37:g.21234969A>T	ENSP00000233242:p.Phe1591Ile						p.F1591I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	4898	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1591					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4771T>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418818	0.42918	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00686	5.85	5.98	2.31	0.28768	.	0.403745	0.24156	N	0.041037	T	0.00845	0.0028	L	0.50333	1.59	0.80722	D	1	B	0.26318	0.146	B	0.21360	0.034	T	0.62562	-0.6828	10	0.38643	T	0.18	.	5.099	0.14749	0.5868:0.1446:0.2686:0.0	.	1591	P04114	APOB_HUMAN	I	1591	ENSP00000233242:F1591I	ENSP00000233242:F1591I	F	-	1	0	APOB	21088474	0.502000	0.26107	1.000000	0.80357	0.615000	0.37417	0.521000	0.22893	0.487000	0.27698	-0.263000	0.10527	TTC		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	49	0	0	0	1	0	7	49				
ABI2	10152	broad.mit.edu	37	2	204259499	204259499	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr2:204259499C>T	ENST00000422511.2	+	6	686	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	ABI2_ENST00000295851.5_Missense_Mutation_p.R219C|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261016.6_Missense_Mutation_p.R168C|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.R213C|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.R213C			Q9NYB9	ABI2_HUMAN	abl-interactor 2	219	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGCCCAACCCGTAATATGGC	0.493																																						ENST00000295851.4																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(655-657)Cgt>Tgt		abl-interactor 2							163.0	148.0	153.0					2																	204259499		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204259499C>T	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.655C>T	2.37:g.204259499C>T	ENSP00000396249:p.Arg219Cys					ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Missense_Mutation_p.R213C|ABI2_ENST00000422511.2_Missense_Mutation_p.R219C|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261017.5_Missense_Mutation_p.R213C|ABI2_ENST00000261016.6_Missense_Mutation_p.R168C|ABI2_ENST00000430418.1_Intron	p.R219C			Q9NYB9	ABI2_HUMAN			6	951	+			219			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.655C>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.712247	0.89112	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	P;D;D;P;D;D	0.97110	0.725;0.999;0.992;0.878;0.988;1.0	D	0.96508	0.9376	10	0.87932	D	0	-12.5379	20.2626	0.98452	0.0:1.0:0.0:0.0	.	54;157;213;168;219;213	B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;ABI2_HUMAN;.	C	219;213;213;168;219;219	ENSP00000295851:R219C;ENSP00000261017:R213C;ENSP00000391433:R213C;ENSP00000261016:R168C;ENSP00000414703:R219C;ENSP00000396249:R219C	ENSP00000261016:R168C	R	+	1	0	ABI2	203967744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.907000	0.69908	2.802000	0.96397	0.650000	0.86243	CGT		0.493	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		14	78	0	0	0	1	0	14	78				
UNC13C	440279	broad.mit.edu	37	15	54307054	54307054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr15:54307054G>T	ENST00000260323.11	+	1	1954	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E652*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E652*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	652					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTTACATGAGGATCTTTC	0.418																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1954-1956)Gag>Tag		unc-13 homolog C (C. elegans)							127.0	125.0	126.0					15																	54307054		2009	4174	6183	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307054G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1954G>T	15.37:g.54307054G>T	ENSP00000260323:p.Glu652*					UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E652*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E652*	p.E652*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1954	+			652					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.1954G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	40	8.098110	0.98654	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.4563	0.87608	0.0:0.0:1.0:0.0	.	.	.	.	X	652	.	ENSP00000260323:E652X	E	+	1	0	UNC13C	52094346	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.070000	0.93974	2.588000	0.87417	0.650000	0.86243	GAG		0.418	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	53	1	0	0.014758	1	0.0159185	5	53				
USP48	84196	broad.mit.edu	37	1	22047643	22047643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:22047643delC	ENST00000308271.9	-	14	2428	c.1780delG	c.(1780-1782)gtgfs	p.V594fs	USP48_ENST00000374732.3_Frame_Shift_Del_p.V132fs|USP48_ENST00000529637.1_Frame_Shift_Del_p.V593fs|USP48_ENST00000400301.1_Frame_Shift_Del_p.V594fs	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	594	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GACTTCCCCACCCAAAATCCA	0.453																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1780-1782)tgfs		ubiquitin specific peptidase 48							129.0	114.0	119.0					1																	22047643		2203	4300	6503	SO:0001589	frameshift_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22047643delC	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1780delG	1.37:g.22047643delC	ENSP00000309262:p.Val594fs					USP48_ENST00000529637.1_Frame_Shift_Del_p.V593fs|USP48_ENST00000374732.3_Frame_Shift_Del_p.V132fs|USP48_ENST00000400301.1_Frame_Shift_Del_p.V594fs	p.V594fs	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	14	2428	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	594			DUSP 2.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	ENST00000308271.9	37	c.1780delG	CCDS30623.1																																																																																				0.453	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		7	78						7	78	---	---	---	---
ZNF593	51042	broad.mit.edu	37	1	26497002	26497003	+	Intron	INS	-	-	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr1:26497002_26497003insG	ENST00000374266.5	+	2	376				RP11-96L14.7_ENST00000444682.1_RNA|ZNF593_ENST00000270812.5_Frame_Shift_Ins_p.G99fs|RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000448923.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA	NM_015871.4	NP_056955.2	O00488	ZN593_HUMAN	zinc finger protein 593						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GATTGATGGATGGGTGCTCAGC	0.52																																						ENST00000270812.5																			0				large_intestine(4)|prostate(1)	5						c.(292-297)gaggtgfs		zinc finger protein 593																																				SO:0001627	intron_variant	51042				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding	g.chr1:26497002_26497003insG	D45213	CCDS275.2	1p35.3	2012-10-05			ENSG00000142684	ENSG00000142684			30943	protein-coding gene	gene with protein product						9115366	Standard	NM_015871		Approved	ZT86	uc001bll.4	O00488	OTTHUMG00000007538	ENST00000374266.5:c.263+31->G	1.37:g.26497005_26497005dupG						RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000448923.1_RNA|ZNF593_ENST00000374266.5_Intron|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000433939.1_RNA	p.V99fs			O00488	ZN593_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	2	336_337	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	0					B2R4S0|Q5T2H7	Frame_Shift_Ins	INS	ENST00000374266.5	37	c.294_295insG	CCDS275.2																																																																																				0.520	ZNF593-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019842.2	NM_015871		15	83						15	83	---	---	---	---
CCDC50	152137	broad.mit.edu	37	3	191075800	191075800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr3:191075800delG	ENST00000392455.3	+	3	724	c.126delG	c.(124-126)ttgfs	p.L42fs	CCDC50_ENST00000392456.3_Frame_Shift_Del_p.L42fs	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	42						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCATCATTTGGCATCGAACG	0.443																																						ENST00000392455.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(124-126)ttfs		coiled-coil domain containing 50							190.0	175.0	180.0					3																	191075800		2203	4300	6503	SO:0001589	frameshift_variant	152137					cytoplasm	protein binding	g.chr3:191075800delG	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.126delG	3.37:g.191075800delG	ENSP00000376249:p.Leu42fs					CCDC50_ENST00000392456.3_Frame_Shift_Del_p.L42fs	p.L42fs	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	3	724	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		42					Q86VH7	Frame_Shift_Del	DEL	ENST00000392455.3	37	c.126delG	CCDS33913.1																																																																																				0.443	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		28	99						28	99	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94377085	94377086	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr4:94377085_94377086insA	ENST00000282020.4	+	11	2076_2077	c.1818_1819insA	c.(1819-1821)aacfs	p.N607fs	GRID2_ENST00000510992.1_Frame_Shift_Ins_p.N512fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	607					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)		CTACTCTCTACAACTCCATGTG	0.406																																						ENST00000282020.4																			0				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						c.(1816-1821)taactcfs		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	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.chr4:94377085_94377086insA	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.1820dupA	4.37:g.94377087_94377087dupA	ENSP00000282020:p.Asn607fs					GRID2_ENST00000510992.1_Frame_Shift_Ins_p.L512fs	p.L607fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	2076_2077	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	607					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Frame_Shift_Ins	INS	ENST00000282020.4	37	c.1818_1819insA	CCDS3637.1																																																																																				0.406	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			9	70						9	70	---	---	---	---
BTN3A2	11118	broad.mit.edu	37	6	26373200	26373200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:26373200delC	ENST00000356386.2	+	6	979	c.791delC	c.(790-792)gccfs	p.A264fs	BTN3A2_ENST00000508906.2_Frame_Shift_Del_p.A222fs|BTN3A2_ENST00000396934.3_Frame_Shift_Del_p.A241fs|BTN3A2_ENST00000527422.1_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000396948.1_Frame_Shift_Del_p.A264fs	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	264					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTGCTTCTCGCCGGAGCCAGT	0.542																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(790-792)gcfs		butyrophilin, subfamily 3, member A2							79.0	80.0	80.0					6																	26373200		2203	4300	6503	SO:0001589	frameshift_variant	11118					integral to membrane		g.chr6:26373200delC	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.791delC	6.37:g.26373200delC	ENSP00000348751:p.Ala264fs					BTN3A2_ENST00000377708.2_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000527422.1_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000396934.3_Frame_Shift_Del_p.A241fs|BTN3A2_ENST00000396948.1_Frame_Shift_Del_p.A264fs|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000508906.2_Frame_Shift_Del_p.A222fs	p.A264fs	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN			6	979	+			264					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Frame_Shift_Del	DEL	ENST00000356386.2	37	c.791delC	CCDS4605.1																																																																																				0.542	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			7	46						7	46	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46657289	46657290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr6:46657289_46657290insC	ENST00000316081.6	+	1	1424_1425	c.1424_1425insC	c.(1423-1428)ctcccafs	p.LP475fs	RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.LP475fs|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	475					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAGATTTCACTCCCAGCCTTAA	0.45																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1423-1425)cccfs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657289_46657290insC	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1427dupC	6.37:g.46657292_46657292dupC	ENSP00000346065:p.Leu475fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.P475fs	p.P475fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1678_1679	+			475					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.1424_1425insC	CCDS34470.1																																																																																				0.450	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		13	62						13	62	---	---	---	---
NR6A1	2649	broad.mit.edu	37	9	127316734	127316734	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:127316734delC	ENST00000487099.2	-	3	415	c.258delG	c.(256-258)cggfs	p.R86fs	NR6A1_ENST00000373584.3_Frame_Shift_Del_p.R82fs|NR6A1_ENST00000416460.2_Frame_Shift_Del_p.R82fs|NR6A1_ENST00000344523.4_Frame_Shift_Del_p.R86fs	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	86					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TGCAAATGCTCCGCTTGAAAA	0.522																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(256-258)cgfs		nuclear receptor subfamily 6, group A, member 1							144.0	126.0	132.0					9																	127316734		2203	4300	6503	SO:0001589	frameshift_variant	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127316734delC	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.258delG	9.37:g.127316734delC	ENSP00000420267:p.Arg86fs					NR6A1_ENST00000373584.3_Frame_Shift_Del_p.R82fs|NR6A1_ENST00000344523.4_Frame_Shift_Del_p.R86fs|NR6A1_ENST00000416460.2_Frame_Shift_Del_p.R82fs	p.R86fs	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			3	415	-			86					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Frame_Shift_Del	DEL	ENST00000487099.2	37	c.258delG	CCDS35137.1																																																																																				0.522	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			28	43						28	43	---	---	---	---
ZBTB43	23099	broad.mit.edu	37	9	129595836	129595838	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr9:129595836_129595838delAAT	ENST00000373464.4	+	3	1312_1314	c.1048_1050delAAT	c.(1048-1050)aatdel	p.N350del	ZBTB43_ENST00000373457.1_In_Frame_Del_p.N350del|ZBTB43_ENST00000449886.1_In_Frame_Del_p.N350del	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	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)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TTACAGTGAGAATATTGAAATGG	0.463																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1048-1050)del		zinc finger and BTB domain containing 43																																				SO:0001651	inframe_deletion	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595836_129595838delAAT	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1048_1050delAAT	9.37:g.129595836_129595838delAAT	ENSP00000362563:p.Asn350del					ZBTB43_ENST00000373457.1_In_Frame_Del_p.N350del|ZBTB43_ENST00000449886.1_In_Frame_Del_p.N350del	p.N350del	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1312_1314	+			350					Q5JU96	In_Frame_Del	DEL	ENST00000373464.4	37	c.1048_1050delAAT	CCDS6867.1																																																																																				0.463	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		11	57						11	57	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		3	6						3	6	---	---	---	---
MRGPRX2	117194	broad.mit.edu	37	11	19077145	19077146	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:19077145_19077146insT	ENST00000329773.2	-	2	891_892	c.804_805insA	c.(802-807)tcatctfs	p.S269fs		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	269					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGTTAAGAGATGACAGGACAA	0.485																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(802-807)tcctctfs		MAS-related GPR, member X2																																				SO:0001589	frameshift_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077145_19077146insT		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.805dupA	11.37:g.19077146_19077146dupT	ENSP00000333800:p.Ser269fs						p.S269fs	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	891_892	-			269					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Frame_Shift_Ins	INS	ENST00000329773.2	37	c.804_805insA	CCDS7847.1																																																																																				0.485	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		10	50						10	50	---	---	---	---
GDPD5	81544	broad.mit.edu	37	11	75146607	75146607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:75146607delC	ENST00000336898.3	-	17	2600	c.1763delG	c.(1762-1764)ggcfs	p.G588fs	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Frame_Shift_Del_p.G469fs|GDPD5_ENST00000533805.1_Frame_Shift_Del_p.G343fs|GDPD5_ENST00000526177.1_Frame_Shift_Del_p.G450fs|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.G469fs|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.G588fs	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	588					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCCTCGGGGGCCCACAGGGGT	0.582																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(1348-1350)gcfs		glycerophosphodiester phosphodiesterase domain containing 5							59.0	57.0	58.0					11																	75146607		2200	4293	6493	SO:0001589	frameshift_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75146607delC	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1763delG	11.37:g.75146607delC	ENSP00000337972:p.Gly588fs					GDPD5_ENST00000533784.1_Frame_Shift_Del_p.G469fs|GDPD5_ENST00000533805.1_Frame_Shift_Del_p.G343fs|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.G469fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.G588fs|GDPD5_ENST00000336898.3_Frame_Shift_Del_p.G588fs	p.G450fs			Q8WTR4	GDPD5_HUMAN			13	3227	-			588			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Frame_Shift_Del	DEL	ENST00000336898.3	37	c.1349delG	CCDS8238.1																																																																																				0.582	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		10	39						10	39	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124908933	124908933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr11:124908933delC	ENST00000344762.5	+	15	2961	c.2702delC	c.(2701-2703)gccfs	p.A901fs	CCDC15_ENST00000529051.1_Frame_Shift_Del_p.A912fs|CCDC15_ENST00000530061.1_3'UTR	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	901						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GATACCTGTGCCAACAACTGT	0.388																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2734-2736)gcfs		coiled-coil domain containing 15							135.0	129.0	131.0					11																	124908933		1840	4092	5932	SO:0001589	frameshift_variant	80071					centrosome		g.chr11:124908933delC	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2702delC	11.37:g.124908933delC	ENSP00000341684:p.Ala901fs					CCDC15_ENST00000344762.5_Frame_Shift_Del_p.A901fs|CCDC15_ENST00000530061.1_3'UTR	p.A912fs			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	15	2994	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	901					Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	37	c.2735delC	CCDS44756.1																																																																																				0.388	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		12	66						12	66	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105410568	105410569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr14:105410568_105410569delCT	ENST00000333244.5	-	7	11338_11339	c.11219_11220delAG	c.(11218-11220)cagfs	p.Q3740fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3740						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGATGTCCACCTGGGGGCCCTT	0.634																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11218-11220)cfs		AHNAK nucleoprotein 2																																				SO:0001589	frameshift_variant	113146					nucleus		g.chr14:105410568_105410569delCT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11219_11220delAG	14.37:g.105410568_105410569delCT	ENSP00000353114:p.Gln3740fs					AHNAK2_ENST00000557457.1_Intron	p.Q3740fs	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11338_11339	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3740					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	c.11219_11220delAG	CCDS45177.1																																																																																				0.634	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		25	158						25	158	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30510662	30510662	+	Frame_Shift_Del	DEL	G	G	-	rs200068830		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr16:30510662delG	ENST00000356798.6	+	17	2177	c.1997delG	c.(1996-1998)cgcfs	p.R666fs	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000433423.2_Frame_Shift_Del_p.R62fs|ITGAL_ENST00000358164.5_Frame_Shift_Del_p.R583fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	666					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGCCCAGGCCGCCTGGTTGCC	0.592																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1996-1998)ccfs		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						97.0	96.0	97.0					16																	30510662		2197	4300	6497	SO:0001589	frameshift_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30510662delG		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1997delG	16.37:g.30510662delG	ENSP00000349252:p.Arg666fs					RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Frame_Shift_Del_p.R583fs|ITGAL_ENST00000433423.2_Frame_Shift_Del_p.R62fs	p.R666fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			17	2177	+			666					O43746|Q45H73|Q96HB1|Q9UBC8	Frame_Shift_Del	DEL	ENST00000356798.6	37	c.1997delG	CCDS32433.1																																																																																				0.592	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			9	84						9	84	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42328879	42328879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:42328879delC	ENST00000262418.6	-	18	2544	c.2389delG	c.(2389-2391)gtcfs	p.V797fs	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	797	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCGACGTGACCCCCATGTAG	0.592																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(2389-2391)tcfs		solute carrier family 4 (anion exchanger), member 1							118.0	106.0	110.0					17																	42328879		2203	4300	6503	SO:0001589	frameshift_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42328879delC		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2389delG	17.37:g.42328879delC	ENSP00000262418:p.Val797fs						p.V797fs	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	18	2544	-		Breast(137;0.014)|Prostate(33;0.0181)	797			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Frame_Shift_Del	DEL	ENST00000262418.6	37	c.2389delG	CCDS11481.1																																																																																				0.592	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		12	40						12	40	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80789123	80789124	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr17:80789123_80789124insG	ENST00000269394.3	-	2	2040_2041	c.1207_1208insC	c.(1207-1209)cgcfs	p.R403fs	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Frame_Shift_Ins_p.R4fs	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	403					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTCCCTGCGCGGGGGCTCATT	0.609																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1207-1209)cgcfs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80789123_80789124insG	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1208dupC	17.37:g.80789128_80789128dupG	ENSP00000269394:p.Arg403fs					ZNF750_ENST00000572562.1_Frame_Shift_Ins_p.R4fs|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	p.R403fs	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	2040_2041	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	403					Q9H899	Frame_Shift_Ins	INS	ENST00000269394.3	37	c.1207_1208insC	CCDS11819.1																																																																																				0.609	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		8	98						8	98	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087443	9087443	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr19:9087443delC	ENST00000397910.4	-	1	4575	c.4372delG	c.(4372-4374)gcafs	p.A1458fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1458	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						AGCCATGTTGCCATGGGGAGA	0.488																																						ENST00000397910.4																			0				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						c.(4372-4374)cafs		mucin 16, cell surface associated							111.0	109.0	110.0					19																	9087443		1961	4148	6109	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087443delC	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.4372delG	19.37:g.9087443delC	ENSP00000381008:p.Ala1458fs						p.A1458fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4575	-			1458			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.4372delG	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	85						21	85	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36634635	36634635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr20:36634635delC	ENST00000373448.2	-	4	2705	c.2467delG	c.(2467-2469)gcafs	p.A823fs	TTI1_ENST00000373447.3_Frame_Shift_Del_p.A823fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.A823fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	823					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTCCATCTGCCACATCCTTC	0.388																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2467-2469)cafs		TELO2 interacting protein 1							260.0	242.0	248.0					20																	36634635		2203	4300	6503	SO:0001589	frameshift_variant	9675						binding	g.chr20:36634635delC	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2467delG	20.37:g.36634635delC	ENSP00000362547:p.Ala823fs					TTI1_ENST00000373447.3_Frame_Shift_Del_p.A823fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.A823fs	p.A823fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			4	2705	-			823					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	ENST00000373448.2	37	c.2467delG	CCDS13300.1																																																																																				0.388	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		12	118						12	118	---	---	---	---
TBX1	6899	broad.mit.edu	37	22	19754184	19754184	+	Intron	DEL	G	G	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chr22:19754184delG	ENST00000329705.7	+	8	1138				TBX1_ENST00000332710.4_Frame_Shift_Del_p.G428fs|TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCACTATCTCGGGGCCAAGAG	0.736																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1282-1284)ggfs		T-box 1							5.0	7.0	7.0					22																	19754184		1801	3600	5401	SO:0001627	intron_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19754184delG	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.1009+659G>-	22.37:g.19754184delG						TBX1_ENST00000359500.3_Intron|TBX1_ENST00000329705.7_Intron	p.G428fs	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			9	1411	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	56					C6G493|C6G494|O43436|Q96RJ2	Frame_Shift_Del	DEL	ENST00000329705.7	37	c.1282delG	CCDS13766.1																																																																																				0.736	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		2	4						2	4	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	6069127	6069127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:6069127delC	ENST00000381095.3	-	2	1008	c.381delG	c.(379-381)tggfs	p.W127fs	NLGN4X_ENST00000381092.1_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000538097.1_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000275857.6_Frame_Shift_Del_p.W127fs	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	127					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGGTAAACCAGATGGGCA	0.483																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(379-381)tgfs		neuroligin 4, X-linked							153.0	129.0	137.0					X																	6069127		2203	4300	6503	SO:0001589	frameshift_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069127delC	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.381delG	X.37:g.6069127delC	ENSP00000370485:p.Trp127fs					NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000275857.6_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000381093.2_Frame_Shift_Del_p.W127fs|NLGN4X_ENST00000538097.1_Frame_Shift_Del_p.W127fs	p.W127fs	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			2	1008	-			127					Q6UX10|Q9ULG0	Frame_Shift_Del	DEL	ENST00000381095.3	37	c.381delG	CCDS14126.1																																																																																				0.483	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		12	50						12	50	---	---	---	---
VCX2	51480	broad.mit.edu	37	X	8138182	8138182	+	Frame_Shift_Del	DEL	A	A	-	rs41305169		TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:8138182delA	ENST00000317103.4	-	3	617	c.311delT	c.(310-312)ctgfs	p.L104fs		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	104	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		L -> P (in dbSNP:rs41305169). {ECO:0000269|PubMed:10607842, ECO:0000269|PubMed:10903929, ECO:0000269|PubMed:15489334}.							endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CTCCTGACTCAGGGGGTCGTG	0.667																																						ENST00000317103.4																			0				endometrium(1)	1						c.(310-312)cgfs		variable charge, X-linked 2							27.0	34.0	32.0					X																	8138182		2157	4235	6392	SO:0001589	frameshift_variant	51480							g.chrX:8138182delA	AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.311delT	X.37:g.8138182delA	ENSP00000321309:p.Leu104fs						p.L104fs	NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN			3	617	-		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	104		L -> P (in dbSNP:rs41305169).	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		A3KPB6|Q4V9T2|Q9P0H5	Frame_Shift_Del	DEL	ENST00000317103.4	37	c.311delT	CCDS35200.1																																																																																				0.667	VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378		2	4						2	4	---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105905477	105905477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45Z-01A-21D-A25D-08	TCGA-CV-A45Z-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	102a8c01-f470-4ce0-9a52-31b8f0bf8632	ee14da16-7b76-4fc7-8fbb-45ea8fad1eb5	g.chrX:105905477delA	ENST00000372548.4	+	12	2320	c.2211delA	c.(2209-2211)ccafs	p.P737fs	CXorf57_ENST00000372544.2_Frame_Shift_Del_p.P640fs|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	737							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						GAAGGCCCCCAAAACTTGATG	0.368																																						ENST00000372548.4																			0				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						c.(2209-2211)ccfs		chromosome X open reading frame 57							71.0	69.0	70.0					X																	105905477		2203	4300	6503	SO:0001589	frameshift_variant	55086							g.chrX:105905477delA	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.2211delA	X.37:g.105905477delA	ENSP00000361628:p.Pro737fs					CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Frame_Shift_Del_p.P640fs	p.P737fs	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			12	2320	+			737					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Frame_Shift_Del	DEL	ENST00000372548.4	37	c.2211delA	CCDS14519.1																																																																																				0.368	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		10	28						10	28	---	---	---	---
