#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SP100	6672	broad.mit.edu	37	2	231368925	231368925	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:231368925A>G	ENST00000264052.5	+	21	2145	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	SP100_ENST00000409112.1_Missense_Mutation_p.N597S|SP100_ENST00000340126.4_Missense_Mutation_p.N597S|RN7SL834P_ENST00000461450.2_RNA	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	597	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAAATATTAATTTT	0.408																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(1789-1791)aAt>aGt		SP100 nuclear antigen							111.0	119.0	117.0					2																	231368925		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231368925A>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1790A>G	2.37:g.231368925A>G	ENSP00000264052:p.Asn597Ser					SP100_ENST00000409112.1_Missense_Mutation_p.N597S|SP100_ENST00000340126.4_Missense_Mutation_p.N597S	p.N597S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	21	2145	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	597			SAND.		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.1790A>G	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335511	0.24253	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.71341	-0.56;-0.56;-0.56	4.54	0.62	0.17637	SAND domain-like (2);SAND domain (2);	1.185050	0.06571	N	0.748647	T	0.51500	0.1678	N	0.19112	0.55	0.09310	N	1	P;P;P	0.38551	0.551;0.636;0.606	B;B;B	0.40602	0.189;0.334;0.287	T	0.38972	-0.9636	10	0.18276	T	0.48	.	1.5401	0.02554	0.5509:0.18:0.0961:0.1731	.	597;597;597	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	S	597;597;597;80	ENSP00000264052:N597S;ENSP00000386427:N597S;ENSP00000343023:N597S	ENSP00000264052:N597S	N	+	2	0	SP100	231077169	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.310000	0.08135	0.103000	0.17682	-0.290000	0.09829	AAT		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		5	139	5	139	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52420237	52420237	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr3:52420237A>G	ENST00000420323.2	+	55	8948	c.8687A>G	c.(8686-8688)aAt>aGt	p.N2896S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2896	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAAGCCAATGAGAAGGCC	0.597																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8686-8688)aAt>aGt		dynein, axonemal, heavy chain 1							62.0	71.0	68.0					3																	52420237		2127	4239	6366	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52420237A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8687A>G	3.37:g.52420237A>G	ENSP00000401514:p.Asn2896Ser						p.N2896S	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	55	8948	+			2896			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8687A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575848	0.28092	.	.	ENSG00000114841	ENST00000420323	T	0.73789	-0.78	4.68	4.68	0.58851	.	0.179848	0.35615	N	0.003093	T	0.56499	0.1989	N	0.21142	0.635	0.30488	N	0.771636	B	0.06786	0.001	B	0.15052	0.012	T	0.49447	-0.8939	10	0.10111	T	0.7	.	10.4504	0.44518	0.8367:0.1633:0.0:0.0	.	2896	C9JXH6	.	S	2896	ENSP00000401514:N2896S	ENSP00000401514:N2896S	N	+	2	0	DNAH1	52395277	0.995000	0.38212	0.990000	0.47175	0.974000	0.67602	3.446000	0.52928	1.955000	0.56771	0.460000	0.39030	AAT		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		9	54	9	54	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3948417	3948417	+	RNA	SNP	C	C	G			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:3948417C>G	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		ACGCCGGCGCCCAGTTCTTTC	0.652																																						ENST00000313946.8																			0																																																			348926							g.chr4:3948417C>G			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948417C>G														0	1232	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.652	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			21	53	21	53	---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47427733	47427733	+	Missense_Mutation	SNP	C	C	T	rs369644137		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:47427733C>T	ENST00000295454.3	+	9	1415	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	375					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)	CCTGGAAATCCGGAATGAGAC	0.562																																						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.(1123-1125)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	TRP/ARG	0,4406		0,0,2203	74.0	74.0	74.0		1123	0.0	1.0	4		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRB1	NM_000812.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	375/475	47427733	1,13005	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.chr4:47427733C>T		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.1123C>T	4.37:g.47427733C>T	ENSP00000295454:p.Arg375Trp					GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	p.R375W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			9	1415	+			375					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.1123C>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423245	0.62733	0.0	1.16E-4	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.86030	-2.06;-2.06	5.48	0.0286	0.14159	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.971540	0.02549	N	0.095469	D	0.90882	0.7135	M	0.63843	1.955	0.38401	D	0.94566	P;D	0.76494	0.952;0.999	P;P	0.57846	0.764;0.828	T	0.81398	-0.0951	10	0.72032	D	0.01	-17.21	16.4545	0.84008	0.4141:0.5859:0.0:0.0	.	305;375	F5GXV5;P18505	.;GBRB1_HUMAN	W	375;305	ENSP00000295454:R375W;ENSP00000440330:R305W	ENSP00000295454:R375W	R	+	1	2	GABRB1	47122490	1.000000	0.71417	0.991000	0.47740	0.783000	0.44284	1.426000	0.34870	-0.099000	0.12263	-0.271000	0.10264	CGG		0.562	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			8	166	8	166	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140256667C>T	ENST00000398631.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1609-1611)gCg>gTg									75.0	83.0	81.0					5																	140256667		2203	4298	6501	SO:0001583	missense	56137							g.chr5:140256667C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1610C>T	5.37:g.140256667C>T	ENSP00000381628:p.Ala537Val					PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron	p.A537V	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1610	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1610C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980305	0.92982	.	.	ENSG00000251664	ENST00000398631	T	0.73363	-0.74	4.92	4.92	0.64577	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.85779	0.5776	M	0.78801	2.425	0.48395	D	0.999642	D;D	0.71674	0.986;0.998	D;P	0.65573	0.936;0.787	D	0.87917	0.2701	9	0.72032	D	0.01	.	17.695	0.88278	0.0:1.0:0.0:0.0	.	537;537	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	537	ENSP00000381628:A537V	ENSP00000381628:A537V	A	+	2	0	PCDHA12	140236851	0.906000	0.30813	1.000000	0.80357	0.859000	0.49053	1.874000	0.39568	2.271000	0.75665	0.561000	0.74099	GCG		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		7	336	7	336	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1444-1446)Gcc>Acc									104.0	113.0	110.0					5																	140531282		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531282G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1444G>A	5.37:g.140531282G>A	ENSP00000231136:p.Ala482Thr					PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	p.A482T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1444	+			482			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1444G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871566	0.91587	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.52295	0.67;0.67	4.27	4.27	0.50696	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73666	0.3616	M	0.90814	3.15	0.42575	D	0.993193	D	0.76494	0.999	D	0.68353	0.957	T	0.82086	-0.0631	9	0.87932	D	0	.	17.1391	0.86748	0.0:0.0:1.0:0.0	.	482	Q9Y5E3	PCDB6_HUMAN	T	346;482;267	ENSP00000438466:A346T;ENSP00000231136:A482T	ENSP00000231136:A482T	A	+	1	0	PCDHB6	140511466	0.979000	0.34478	1.000000	0.80357	0.944000	0.59088	5.595000	0.67563	2.095000	0.63458	0.556000	0.70494	GCC		0.642	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		14	529	14	529	---	---	---	---
PCDHB17	54661	broad.mit.edu	37	5	140537079	140537079	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140537079C>T	ENST00000539533.1	+	1	1503	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L						protocadherin beta 17 pseudogene																		ACCTGCCCCTCGCCTCCCTGG	0.652																																						ENST00000539533.1																			0											c.(1501-1503)ctC>ctT																																						SO:0001819	synonymous_variant	54661							g.chr5:140537079C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1503C>T	5.37:g.140537079C>T							p.L501L							1	1503	+									Silent	SNP	ENST00000539533.1	37	c.1503C>T																																																																																					0.652	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				96	266	96	266	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563584	140563584	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140563584G>A	ENST00000361016.2	+	1	2605	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	484	Cadherin 5. {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)	p.A484T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTCAC	0.652																																						ENST00000361016.2																			1	Substitution - Missense(1)	p.A484T(1)	endometrium(1)	breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1450-1452)Gcc>Acc									52.0	49.0	50.0					5																	140563584		2203	4277	6480	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563584G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1450G>A	5.37:g.140563584G>A	ENSP00000354293:p.Ala484Thr						p.A484T	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2605	+			484			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1450G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.456235	0.84317	.	.	ENSG00000196963	ENST00000361016	T	0.52295	0.67	4.26	3.37	0.38596	Cadherin (4);Cadherin-like (1);	0.245989	0.21125	N	0.079745	T	0.75110	0.3805	H	0.95004	3.61	0.30726	N	0.747701	D	0.89917	1.0	D	0.71656	0.974	T	0.79470	-0.1790	10	0.87932	D	0	.	13.2084	0.59811	0.0:0.0:0.8399:0.1601	.	484	Q9NRJ7	PCDBG_HUMAN	T	484	ENSP00000354293:A484T	ENSP00000354293:A484T	A	+	1	0	PCDHB16	140543768	0.996000	0.38824	0.995000	0.50966	0.702000	0.40608	3.759000	0.55227	0.760000	0.33108	0.580000	0.79431	GCC		0.652	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		82	349	82	349	---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28057219	28057219	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:28057219A>C	ENST00000377325.1	+	4	1985	c.1429A>C	c.(1429-1431)Att>Ctt	p.I477L	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	477					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(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACCAGAGAATTCACATGAG	0.333																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1429-1431)Att>Ctt		zinc finger protein 165							52.0	56.0	55.0					6																	28057219		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28057219A>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1429A>C	6.37:g.28057219A>C	ENSP00000366542:p.Ile477Leu						p.I477L	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1985	+			477						Missense_Mutation	SNP	ENST00000377325.1	37	c.1429A>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475881	0.44044	.	.	ENSG00000197279	ENST00000377325	T	0.04502	3.61	2.61	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	L	0.32530	0.975	0.26015	N	0.981931	P	0.51791	0.948	P	0.44623	0.455	T	0.47824	-0.9087	9	0.51188	T	0.08	.	9.8275	0.40921	1.0:0.0:0.0:0.0	.	477	P49910	ZN165_HUMAN	L	477	ENSP00000366542:I477L	ENSP00000366542:I477L	I	+	1	0	ZNF165	28165198	0.164000	0.22935	1.000000	0.80357	0.974000	0.67602	3.164000	0.50770	1.218000	0.43458	0.477000	0.44152	ATT		0.333	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		30	67	30	67	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114299484	114299484	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr7:114299484G>C	ENST00000393494.2	+	12	1821	c.1542G>C	c.(1540-1542)agG>agC	p.R514S	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.R539S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S			O15409	FOXP2_HUMAN	forkhead box P2	514					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCTCATAAGGCAGGTAAGTA	0.303																																						ENST00000408937.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1615-1617)agG>agC		forkhead box P2							66.0	71.0	70.0					7																	114299484		2202	4299	6501	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114299484G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1542G>C	7.37:g.114299484G>C	ENSP00000377132:p.Arg514Ser					FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393500.3_3'UTR	p.R539S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			13	1991	+			514					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1617G>C	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502492	0.64298	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.96	5.96	0.96718	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.59357	0.985;0.985;0.985;0.981	D;D;D;D	0.69824	0.966;0.966;0.966;0.962	D	0.96266	0.9195	10	0.87932	D	0	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	513;531;514;539	B7ZLK5;B4DLD9;O15409;O15409-4	.;.;FOXP2_HUMAN;.	S	514;539;531;514;491;422	ENSP00000377132:R514S;ENSP00000386200:R539S;ENSP00000385069:R531S;ENSP00000265436:R514S;ENSP00000377129:R422S	ENSP00000265436:R514S	R	+	3	2	FOXP2	114086720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.450000	0.73477	2.823000	0.97156	0.650000	0.86243	AGG		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		27	98	27	98	---	---	---	---
UTP23	84294	broad.mit.edu	37	8	117783946	117783946	+	Silent	SNP	T	T	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:117783946T>A	ENST00000309822.2	+	3	716	c.615T>A	c.(613-615)ctT>ctA	p.L205L	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	205					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCAATCCTCTTAGTTGTTTGA	0.358																																						ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(613-615)ctT>ctA		UTP23, small subunit (SSU) processome component, homolog (yeast)							47.0	49.0	48.0					8																	117783946		2203	4300	6503	SO:0001819	synonymous_variant	84294				rRNA processing	nucleolus		g.chr8:117783946T>A		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.615T>A	8.37:g.117783946T>A						UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron	p.L205L	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			3	716	+			205					B2RE25|Q96NJ8	Silent	SNP	ENST00000309822.2	37	c.615T>A	CCDS6320.1																																																																																				0.358	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		21	90	21	90	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115962194	115962194	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:115962194G>C	ENST00000238256.3	-	7	665	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	183					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAGGTCCTGGGAGAGCACTGC	0.488																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(547-549)tCc>tGc		FK506 binding protein 15, 133kDa							55.0	54.0	55.0					9																	115962194		2016	4189	6205	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115962194G>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.548C>G	9.37:g.115962194G>C	ENSP00000238256:p.Ser183Cys						p.S183C	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			7	665	-			183					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.548C>G	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581732	0.28180	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.42900	0.96;0.96;0.96	5.95	0.634	0.17718	.	.	.	.	.	T	0.25865	0.0630	L	0.31371	0.925	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.004;0.004;0.003	T	0.18650	-1.0330	9	0.36615	T	0.2	-1.1946	3.8371	0.08899	0.146:0.3626:0.3737:0.1177	.	183;183;183	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	C	208;183;208	ENSP00000416158:S208C;ENSP00000238256:S183C;ENSP00000415733:S208C	ENSP00000238256:S183C	S	-	2	0	FKBP15	115002015	0.003000	0.15002	0.111000	0.21465	0.995000	0.86356	0.528000	0.23002	0.392000	0.25172	0.655000	0.94253	TCC		0.488	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		12	34	12	34	---	---	---	---
SLC25A28	81894	broad.mit.edu	37	10	101373523	101373523	+	Silent	SNP	G	G	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:101373523G>A	ENST00000370495.4	-	2	478	c.450C>T	c.(448-450)gcC>gcT	p.A150A	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	150					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTTCGTAGCAGGCAAAATAAA	0.532																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(448-450)gcC>gcT		solute carrier family 25 (mitochondrial iron transporter), member 28							62.0	67.0	65.0					10																	101373523		1904	4113	6017	SO:0001819	synonymous_variant	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101373523G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.450C>T	10.37:g.101373523G>A						SLC25A28_ENST00000496035.1_5'UTR	p.A150A	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	2	478	-		Colorectal(252;0.234)	150					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.450C>T	CCDS41559.1																																																																																				0.532	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		16	68	16	68	---	---	---	---
BTBD10	84280	broad.mit.edu	37	11	13443342	13443342	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr11:13443342T>C	ENST00000278174.5	-	3	390	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V|BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	49						nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGTAGACTCATTTTGGTGTGG	0.408																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(145-147)Atg>Gtg		BTB (POZ) domain containing 10							101.0	88.0	92.0					11																	13443342		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13443342T>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.145A>G	11.37:g.13443342T>C	ENSP00000278174:p.Met49Val					BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V	p.M49V	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	3	390	-			49					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.145A>G	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451759	0.84209	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120;ENST00000529708;ENST00000526841	T;T;T	0.32753	1.44;1.45;1.52	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.48642	1.525	0.80722	D	1	P;B;B;B	0.41450	0.75;0.368;0.091;0.223	B;B;B;B	0.33960	0.173;0.113;0.046;0.078	T	0.04723	-1.0931	10	0.21540	T	0.41	-36.5988	14.7298	0.69372	0.0:0.0:0.0:1.0	.	18;57;49;49	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	V	49;57;1;49;49	ENSP00000278174:M49V;ENSP00000431186:M57V;ENSP00000435257:M1V	ENSP00000278174:M49V	M	-	1	0	BTBD10	13399918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.978000	0.76147	2.154000	0.67381	0.533000	0.62120	ATG		0.408	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		12	68	12	68	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41316217	41316217	+	Silent	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:41316217C>A	ENST00000551295.2	+	5	504	c.387C>A	c.(385-387)acC>acA	p.T129T	CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000547849.1_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	129	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGAAGCAACCCTGAGCTTTG	0.398																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(385-387)acC>acA		contactin 1							107.0	96.0	100.0					12																	41316217		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41316217C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.387C>A	12.37:g.41316217C>A						CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000547849.1_Silent_p.T129T	p.T129T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			5	504	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	129			Ig-like C2-type 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.387C>A	CCDS8737.1																																																																																				0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		4	87	4	87	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47472525	47472525	+	5'Flank	SNP	C	C	T	rs147425809		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:47472525C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										ATACTGGAATCCACTCAGAAT	0.438																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(259-261)tgG>tgA		adhesion molecule with Ig-like domain 2							103.0	102.0	103.0					12																	47472525		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472525C>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472525C>T	Exception_encountered					AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*	p.W87*	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	727	-	Renal(347;0.138)|Lung SC(27;0.192)		87					Q96B20	Nonsense_Mutation	SNP	ENST00000546455.1	37	c.261G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	40	8.053436	0.98629	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.7626	17.3036	0.87189	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000266581:W87X	W	-	3	0	AMIGO2	45758792	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.713000	0.84693	2.499000	0.84300	0.655000	0.94253	TGG		0.438	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		33	137	33	137	---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4780010	4780010	+	Silent	SNP	C	C	T	rs148767427		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:4780010C>T	ENST00000304283.4	-	3	435	c.141G>A	c.(139-141)caG>caA	p.Q47Q	ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000450067.2_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Silent_p.Q47Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	47										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCACTTCATACTGGCCAATGG	0.577																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(139-141)caG>caA		ankyrin repeat and sterile alpha motif domain containing 3		C	,	1,4393	2.1+/-5.4	0,1,2196	177.0	159.0	165.0		141,141	3.8	1.0	16	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANKS3	NM_001242929.1,NM_133450.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	47/550,47/657	4780010	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	124401							g.chr16:4780010C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.141G>A	16.37:g.4780010C>T						ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_5'UTR	p.Q47Q	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			3	435	-			47					B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	c.141G>A	CCDS10520.1																																																																																				0.577	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		40	361	40	361	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20952769	20952769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:20952769C>A	ENST00000261383.3	-	59	11607	c.11608G>T	c.(11608-11610)Gaa>Taa	p.E3870*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3870					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)		TTCATGGATTCTTCATAGACC	0.488																																						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.(11608-11610)Gaa>Taa		dynein, axonemal, heavy chain 3							276.0	261.0	266.0					16																	20952769		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952769C>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.11608G>T	16.37:g.20952769C>A	ENSP00000261383:p.Glu3870*					DNAH3_ENST00000415178.1_3'UTR	p.E3870*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11607	-			3870					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.11608G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	53	20.687883	0.99933	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.67	5.67	0.87782	.	0.065669	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	.	.	.	X	3870	.	ENSP00000261383:E3870X	E	-	1	0	DNAH3	20860270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.687000	0.91594	0.655000	0.94253	GAA		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		144	473	144	473	---	---	---	---
ACLY	47	broad.mit.edu	37	17	40025296	40025296	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:40025296C>A	ENST00000352035.2	-	27	3264	c.3134G>T	c.(3133-3135)cGg>cTg	p.R1045L	ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000590151.1_Splice_Site_p.R1045L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1045					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.R1045L(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CAATGCTCACCGAGTAAAGGA	0.358																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	1	Substitution - Missense(1)	p.R1045L(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(3133-3135)cGg>cTg		ATP citrate lyase							175.0	174.0	174.0					17																	40025296		2203	4300	6503	SO:0001630	splice_region_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40025296C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3134+1G>T	17.37:g.40025296C>A						ACLY_ENST00000590151.1_Splice_Site_p.R1045L|ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L	p.R1045L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			27	3264	-		Breast(137;0.000143)	1045					B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37	c.3134G>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.957118	0.73902	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.88664	-1.42;-1.42;-2.41;-1.42	5.9	5.9	0.94986	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	L	0.58969	1.84	0.80722	D	1	D;P;D;P;D	0.76494	0.999;0.954;0.978;0.757;0.999	D;P;P;P;D	0.85130	0.997;0.733;0.793;0.525;0.997	D	0.92077	0.5669	9	.	.	.	.	17.216	0.86944	0.0:0.8745:0.1255:0.0	.	774;1089;1099;1035;1045	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	1045;1099;1035;774;1035	ENSP00000253792:R1045L;ENSP00000345398:R1035L;ENSP00000445349:R774L;ENSP00000377474:R1035L	.	R	-	2	0	ACLY	37278822	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.768000	0.85345	2.802000	0.96397	0.651000	0.88453	CGG		0.358	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Missense_Mutation	5	485	5	485	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46136011	46136011	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:46136011G>C	ENST00000362042.3	+	6	1943	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	443					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTCTGTTAGATGAAGCTAT	0.547																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1327-1329)Gat>Cat		nuclear factor, erythroid 2-like 1							81.0	82.0	82.0					17																	46136011		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136011G>C	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1327G>C	17.37:g.46136011G>C	ENSP00000354855:p.Asp443His					NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	p.D443H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	1943	+			443					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.1327G>C	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342337	0.41498	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;D;D	0.95447	-3.62;-3.71;-3.71	5.34	3.33	0.38152	.	0.046883	0.85682	D	0.000000	D	0.96904	0.8989	M	0.78049	2.395	0.50632	D	0.999881	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.71656	0.974;0.921;0.948;0.945	D	0.96133	0.9094	10	0.87932	D	0	-17.3304	9.5329	0.39205	0.0759:0.0:0.7819:0.1422	.	287;255;413;443	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	H	462;443;413;287	ENSP00000355190:D443H;ENSP00000350072:D413H;ENSP00000445811:D287H	ENSP00000350072:D413H	D	+	1	0	NFE2L1	43491010	1.000000	0.71417	0.390000	0.26220	0.942000	0.58702	7.553000	0.82203	0.628000	0.30357	0.455000	0.32223	GAT		0.547	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		37	118	37	118	---	---	---	---
GNA13	10672	broad.mit.edu	37	17	63049844	63049844	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:63049844T>C	ENST00000439174.2	-	2	531	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	96					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGCACCCTCATACCTTTGTTT	0.363																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(286-288)Atg>Gtg		guanine nucleotide binding protein (G protein), alpha 13							104.0	105.0	104.0					17																	63049844		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63049844T>C	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.286A>G	17.37:g.63049844T>C	ENSP00000400717:p.Met96Val					GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V	p.M96V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			2	531	-			96					B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.286A>G	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958969	0.34565	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88201	-2.35;-2.35	5.28	4.17	0.49024	G protein alpha subunit, helical insertion (2);	0.228496	0.46442	D	0.000290	T	0.80160	0.4572	L	0.35593	1.075	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74569	-0.3622	10	0.41790	T	0.15	.	4.8813	0.13681	0.0:0.2202:0.0:0.7798	.	96	Q14344	GNA13_HUMAN	V	96;1;71	ENSP00000400717:M96V;ENSP00000439647:M1V	ENSP00000239138:M71V	M	-	1	0	GNA13	60480306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.478000	0.45189	1.988000	0.58038	0.533000	0.62120	ATG		0.363	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		26	104	26	104	---	---	---	---
PDCD5	9141	broad.mit.edu	37	19	33077770	33077770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:33077770G>C	ENST00000590247.2	+	5	459	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	89					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CTAGGTATCAGAACAAGGTTT	0.343																																						ENST00000590247.2																			0				breast(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(265-267)Gaa>Caa		programmed cell death 5							73.0	78.0	76.0					19																	33077770		2203	4300	6503	SO:0001583	missense	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33077770G>C	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.265G>C	19.37:g.33077770G>C	ENSP00000466214:p.Glu89Gln					PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000419343.3_3'UTR	p.E89Q	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN			5	459	+	Esophageal squamous(110;0.137)							B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	c.265G>C	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391296	0.83011	.	.	ENSG00000105185	ENST00000221784	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	H	0.96365	3.81	0.80722	D	1	D	0.60575	0.988	P	0.61533	0.89	D	0.90871	0.4746	9	0.87932	D	0	.	19.3088	0.94175	0.0:0.0:1.0:0.0	.	89	O14737	PDCD5_HUMAN	Q	89	.	ENSP00000221784:E89Q	E	+	1	0	PDCD5	37769610	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.522000	0.81844	2.655000	0.90218	0.462000	0.41574	GAA		0.343	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		23	94	23	94	---	---	---	---
EBF4	57593	broad.mit.edu	37	20	2688616	2688616	+	Silent	SNP	C	C	T			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr20:2688616C>T	ENST00000609451.1	+	5	510	c.438C>T	c.(436-438)gaC>gaT	p.D146D	EBF4_ENST00000380648.4_Silent_p.D142D			Q9BQW3	COE4_HUMAN	early B-cell factor 4	146					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)										AGGGGCAGGACAAGAACCCCG	0.607																																						ENST00000380648.4																			0											c.(424-426)gaC>gaT		early B-cell factor 4							126.0	115.0	118.0					20																	2688616		692	1591	2283	SO:0001819	synonymous_variant	57593				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr20:2688616C>T	BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.438C>T	20.37:g.2688616C>T						EBF4_ENST00000609451.1_Silent_p.D146D	p.D142D	NM_001110514.1	NP_001103984.1	Q9BQW3	COE4_HUMAN			6	694	+			146					Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Silent	SNP	ENST00000609451.1	37	c.426C>T																																																																																					0.607	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471930.1	XM_938882		7	17	7	17	---	---	---	---
NCR2	9436	broad.mit.edu	37	6	41304075	41304075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:41304075delG	ENST00000373089.5	+	2	391	c.303delG	c.(301-303)gagfs	p.E102fs	NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373083.4_Frame_Shift_Del_p.E102fs	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	102	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATCTGAGAGAGGAAGACTCAG	0.517																																						ENST00000373083.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(301-303)gagfs		natural cytotoxicity triggering receptor 2							95.0	88.0	90.0					6																	41304075		2203	4300	6503	SO:0001589	frameshift_variant	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41304075delG	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.303delG	6.37:g.41304075delG	ENSP00000362181:p.Glu102fs					NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs	p.E102fs	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			2	525	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		102			Ig-like.		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Frame_Shift_Del	DEL	ENST00000373089.5	37	c.303delG	CCDS4855.1																																																																																				0.517	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			7	189	7	189	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28919605	28919605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr13:28919605delG	ENST00000282397.4	-	16	2583	c.2332delC	c.(2332-2334)ctcfs	p.L778fs	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	778					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGATAAAGAGGGTTAATAGG	0.413																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2332-2334)ctcfs		fms-related tyrosine kinase 1	Sunitinib(DB01268)						57.0	55.0	55.0					13																	28919605		2203	4300	6503	SO:0001589	frameshift_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919605delG	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2332delC	13.37:g.28919605delG	ENSP00000282397:p.Leu778fs					FLT1_ENST00000540678.1_5'UTR	p.L778fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2583	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	778					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Frame_Shift_Del	DEL	ENST00000282397.4	37	c.2332delC	CCDS9330.1																																																																																				0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			12	29	12	29	---	---	---	---
