#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
LYPD4	147719	broad.mit.edu	37	19	42342289	42342289	+	Silent	SNP	C	C	T	rs201791029		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr19:42342289C>T	ENST00000330743.3	-	4	1469	c.258G>A	c.(256-258)tcG>tcA	p.S86S	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.S51S|LYPD4_ENST00000601246.1_Silent_p.S51S	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	86	Poly-Ser.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAGGGTAAGACGAAGACGAGC	0.557													-|||	1	0.000199681	0.0	0.0014	5008	,	,		16789	0.0		0.0	False		,,,				2504	0.0					ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(256-258)tcG>tcA		LY6/PLAUR domain containing 4							98.0	89.0	92.0					19																	42342289		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342289C>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.258G>A	19.37:g.42342289C>T			Somatic				LYPD4_ENST00000343055.4_Silent_p.S51S|LYPD4_ENST00000601246.1_Silent_p.S51S	p.S86S	NM_173506.4	NP_775777.3	WXS	Illumina GAIIx	Phase_I	Q6UWN0	LYPD4_HUMAN			4	1469	-			86			Poly-Ser.		Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.258G>A	CCDS12587.1																																																																																				0.557	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		3	27	0	0	0	1	0	3	27				
STK4	6789	broad.mit.edu	37	20	43653753	43653753	+	Silent	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr20:43653753G>A	ENST00000372806.3	+	10	1382	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	STK4_ENST00000372801.1_Silent_p.Q429Q|STK4_ENST00000396731.4_Silent_p.Q429Q|STK4_ENST00000499879.2_Silent_p.Q374Q	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	429					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AAATACCACAGGATGGAGACT	0.363																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1285-1287)caG>caA		serine/threonine kinase 4							104.0	100.0	101.0					20																	43653753		2203	4300	6503	SO:0001819	synonymous_variant	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43653753G>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1287G>A	20.37:g.43653753G>A			Somatic				STK4_ENST00000396731.4_Silent_p.Q429Q|STK4_ENST00000372801.1_Silent_p.Q429Q|STK4_ENST00000499879.2_Silent_p.Q374Q	p.Q429Q	NM_006282.2	NP_006273.1	WXS	Illumina GAIIx	Phase_I	Q13043	STK4_HUMAN			10	1382	+		Myeloproliferative disorder(115;0.0122)	429					B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Silent	SNP	ENST00000372806.3	37	c.1287G>A	CCDS13341.1																																																																																				0.363	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		7	35	0	0	0	1	0	7	35				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A			Somatic				EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q	p.Q2779Q			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	23	0	0	0	1	0	5	23				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	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 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		7	24	0	0	0	1	0	7	24				
RNF167	26001	broad.mit.edu	37	17	4846548	4846548	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr17:4846548G>A	ENST00000262482.6	+	7	1201	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RNF167_ENST00000570492.1_Intron|RNF167_ENST00000575111.1_Missense_Mutation_p.G182E|RNF167_ENST00000576229.1_Missense_Mutation_p.G147E|RNF167_ENST00000571816.1_Missense_Mutation_p.G182E|RNF167_ENST00000572430.1_Missense_Mutation_p.G182E	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	182					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GGGATTGTGGGACTGCTGGTT	0.547																																						ENST00000262482.6																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(544-546)gGa>gAa		ring finger protein 167							83.0	72.0	76.0					17																	4846548		2203	4300	6503	SO:0001583	missense	26001				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4846548G>A	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.545G>A	17.37:g.4846548G>A	ENSP00000262482:p.Gly182Glu		Somatic				RNF167_ENST00000572430.1_Missense_Mutation_p.G182E|RNF167_ENST00000576229.1_Missense_Mutation_p.G147E|RNF167_ENST00000570492.1_Intron|RNF167_ENST00000571816.1_Missense_Mutation_p.G182E|RNF167_ENST00000575111.1_Missense_Mutation_p.G182E	p.G182E	NM_015528.1	NP_056343.1	WXS	Illumina GAIIx	Phase_I	Q9H6Y7	RN167_HUMAN			7	1201	+			182					D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	c.545G>A	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763871	0.69878	.	.	ENSG00000108523	ENST00000262482	T	0.04156	3.69	5.9	5.9	0.94986	.	0.168939	0.52532	D	0.000076	T	0.18467	0.0443	M	0.76170	2.325	0.44587	D	0.997552	D	0.58620	0.983	D	0.63703	0.917	T	0.00036	-1.2256	10	0.41790	T	0.15	-0.3361	13.364	0.60674	0.0:0.1579:0.8421:0.0	.	182	Q9H6Y7	RN167_HUMAN	E	182	ENSP00000262482:G182E	ENSP00000262482:G182E	G	+	2	0	RNF167	4787293	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.290000	0.59019	2.793000	0.96121	0.563000	0.77884	GGA		0.547	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		7	26	0	0	0	1	0	7	26				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A			Somatic				NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	31	0	0	0	1	0	3	31				
PPARD	5467	broad.mit.edu	37	6	35393805	35393805	+	Silent	SNP	C	C	G			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr6:35393805C>G	ENST00000311565.4	+	9	1624	c.1275C>G	c.(1273-1275)acC>acG	p.T425T	PPARD_ENST00000540939.1_Silent_p.T322T|PPARD_ENST00000360694.3_Silent_p.T425T|PPARD_ENST00000448077.2_Silent_p.T386T|PPARD_ENST00000418635.2_Silent_p.T327T	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	425	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGACCGAAACCGAGACCTCGC	0.607																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1273-1275)acC>acG		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						100.0	84.0	89.0					6																	35393805		2203	4300	6503	SO:0001819	synonymous_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35393805C>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1275C>G	6.37:g.35393805C>G			Somatic				PPARD_ENST00000540939.1_Silent_p.T322T|PPARD_ENST00000448077.2_Silent_p.T386T|PPARD_ENST00000360694.3_Silent_p.T425T|PPARD_ENST00000418635.2_Silent_p.T327T	p.T425T	NM_001171818.1	NP_001165289.1	WXS	Illumina GAIIx	Phase_I	Q03181	PPARD_HUMAN			9	1624	+			425			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	c.1275C>G	CCDS4803.1																																																																																				0.607	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		5	26	0	0	0	1	0	5	26				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A			Somatic						NR_026793.1		WXS	Illumina GAIIx	Phase_I					0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	13	0	0	0	1	0	3	13				
FSHR	2492	broad.mit.edu	37	2	49381416	49381416	+	Silent	SNP	A	A	G			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr2:49381416A>G	ENST00000406846.2	-	1	260	c.141T>C	c.(139-141)aaT>aaC	p.N47N	FSHR_ENST00000346173.3_Silent_p.N47N|FSHR_ENST00000304421.4_Silent_p.N47N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	47					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTCAATGGCATTCCTCGGGA	0.463									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(139-141)aaT>aaC		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						70.0	69.0	69.0					2																	49381416		2203	4300	6503	SO:0001819	synonymous_variant	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381416A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.141T>C	2.37:g.49381416A>G			Somatic				FSHR_ENST00000346173.3_Silent_p.N47N|FSHR_ENST00000304421.4_Silent_p.N47N	p.N47N	NM_000145.3	NP_000136.2	WXS	Illumina GAIIx	Phase_I	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	260	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	47					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.141T>C	CCDS1843.1																																																																																				0.463	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			10	30	0	0	0	1	0	10	30				
PSAP	5660	broad.mit.edu	37	10	73588803	73588803	+	Missense_Mutation	SNP	T	T	C	rs374177795		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr10:73588803T>C	ENST00000394936.3	-	5	554	c.407A>G	c.(406-408)aAc>aGc	p.N136S	PSAP_ENST00000394934.1_Missense_Mutation_p.N136S			P07602	SAP_HUMAN	prosaposin	136	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CTCGCAGAGGTTGAGAGCAGA	0.552																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(406-408)aAc>aGc		prosaposin		T	SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	73.0	72.0	73.0		407,407,407	-1.8	1.0	10		73	0,8600		0,0,4300	no	missense,missense,missense	PSAP	NM_001042465.1,NM_001042466.1,NM_002778.2	46,46,46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	136/528,136/527,136/525	73588803	1,13005	2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73588803T>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.407A>G	10.37:g.73588803T>C	ENSP00000378394:p.Asn136Ser		Somatic				PSAP_ENST00000394934.1_Missense_Mutation_p.N136S	p.N136S			WXS	Illumina GAIIx	Phase_I	P07602	SAP_HUMAN			5	554	-			136			Saposin B-type 1.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.407A>G	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	T	6.204	0.405741	0.11754	2.27E-4	0.0	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.74106	-0.81;-0.81	5.0	-1.83	0.07833	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.596935	0.18687	N	0.133984	T	0.44871	0.1314	N	0.03608	-0.345	0.23401	N	0.997756	B	0.09022	0.002	B	0.11329	0.006	T	0.34950	-0.9808	10	0.37606	T	0.19	-8.1092	7.1844	0.25791	0.0:0.4344:0.2114:0.3542	.	136	P07602	SAP_HUMAN	S	136;136;136;136;139;61	ENSP00000378394:N136S;ENSP00000378392:N136S	ENSP00000350063:N136S	N	-	2	0	PSAP	73258809	0.000000	0.05858	0.993000	0.49108	0.888000	0.51559	-0.356000	0.07661	0.018000	0.15052	-0.736000	0.03550	AAC		0.552	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		13	69	0	0	0	1	0	13	69				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G			Somatic				EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q	p.Q2778Q			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	24	0	0	0	1	0	5	24				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				2	0	0	0	0	1	0	2	0				
KCNH5	27133	broad.mit.edu	37	14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1678-1680)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 5							82.0	77.0	79.0					14																	63269191		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269191G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1678C>T	14.37:g.63269191G>A	ENSP00000321427:p.Arg560Cys		Somatic				KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	p.R560C	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1946	-			560					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1678C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948501	0.73787	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96940	-4.18;-4.18;-4.18	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.91038	3.17	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	0.99564	1.0969	10	0.87932	D	0	.	15.7242	0.77740	0.0:0.1373:0.8627:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	C	560;560;502	ENSP00000321427:R560C;ENSP00000395439:R560C;ENSP00000378419:R502C	ENSP00000321427:R560C	R	-	1	0	KCNH5	62338944	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	5.628000	0.67791	1.265000	0.44215	0.563000	0.77884	CGC		0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		6	38	0	0	0	1	0	6	38				
C10orf55	414236	broad.mit.edu	37	10	75673396	75673396	+	Intron	SNP	T	T	C			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr10:75673396T>C	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Missense_Mutation_p.I151T|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Missense_Mutation_p.I170T|PLAU_ENST00000372764.3_Missense_Mutation_p.I187T	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TTCACCACCATCGAGAACCAG	0.547																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(508-510)aTc>aCc		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						99.0	117.0	111.0					10																	75673396		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673396T>C		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-563A>G	10.37:g.75673396T>C			Somatic				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.I187T|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.I151T	p.I170T	NM_001145031.1	NP_001138503	WXS	Illumina GAIIx	Phase_I	P00749	UROK_HUMAN			6	991	+	Prostate(51;0.0112)		187			Connecting peptide.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.509T>C	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.248166	0.39697	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88509	-2.39;-2.39;-2.39	5.25	0.244	0.15507	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.454666	0.26255	N	0.025427	D	0.83737	0.5319	L	0.52206	1.635	0.09310	N	1	B;B;B;B	0.20368	0.021;0.044;0.034;0.001	B;B;B;B	0.27380	0.079;0.049;0.064;0.002	T	0.73228	-0.4049	10	0.49607	T	0.09	.	8.0973	0.30835	0.0:0.2628:0.0:0.7372	.	170;151;187;187	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	T	170;187;151;151	ENSP00000388474:I170T;ENSP00000361850:I187T;ENSP00000361848:I151T	ENSP00000361847:I151T	I	+	2	0	PLAU	75343402	0.071000	0.21146	0.000000	0.03702	0.969000	0.65631	1.239000	0.32719	-0.135000	0.11495	0.528000	0.53228	ATC		0.547	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		9	93	0	0	0	1	0	9	93				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				2	0	1	0	0.0016	1	0.00166667	2	0				
EIF2B5	8893	broad.mit.edu	37	3	183856019	183856019	+	Silent	SNP	C	C	T			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:183856019C>T	ENST00000273783.3	+	5	872	c.750C>T	c.(748-750)agC>agT	p.S250S	EIF2B5_ENST00000444495.1_Silent_p.S250S|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	250					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCATATCAGCATCTGTTCTC	0.468																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(748-750)agC>agT		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							161.0	147.0	152.0					3																	183856019		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183856019C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.750C>T	3.37:g.183856019C>T			Somatic				EIF2B5_ENST00000444495.1_Silent_p.S250S	p.S250S	NM_003907.2	NP_003898.2	WXS	Illumina GAIIx	Phase_I	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	872	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		250					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.750C>T	CCDS3252.1																																																																																				0.468	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			10	31	0	0	0	1	0	10	31				
TRIML1	339976	broad.mit.edu	37	4	189068325	189068325	+	Silent	SNP	G	G	A	rs376744139		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr4:189068325G>A	ENST00000332517.3	+	6	1346	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	402	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACGTCAGAGAGCCTGTGTGTA	0.493																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1204-1206)gaG>gaA		tripartite motif family-like 1		G		0,4406		0,0,2203	152.0	136.0	141.0		1206	-0.0	0.8	4		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIML1	NM_178556.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		402/469	189068325	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068325G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1206G>A	4.37:g.189068325G>A			Somatic				TRIML1_ENST00000507581.1_3'UTR	p.E402E	NM_178556.3	NP_848651.2	WXS	Illumina GAIIx	Phase_I	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1346	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	402			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1206G>A	CCDS3851.1																																																																																				0.493	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		24	69	0	0	0	1	0	24	69				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		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						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000333891.9																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	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.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	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.chr7:82784471A>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.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro		Somatic				PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	p.S496P	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			2	1823	-						10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	81	0	0	0	1	0	5	81				
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, 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)	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443																																						ENST00000303324.2																			1	Substitution - coding silent(1)	p.I216I(1)	prostate(1)	cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(646-648)atA>atC		olfactory receptor, family 2, subfamily B, member 2							124.0	111.0	115.0					6																	27879450		2203	4300	6503	SO:0001819	synonymous_variant	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879450T>G	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.648A>C	6.37:g.27879450T>G			Somatic					p.I216I	NM_033057.2	NP_149046.2	WXS	Illumina GAIIx	Phase_I	Q9GZK3	OR2B2_HUMAN			1	724	-			216					B2RNH2|Q9GZL2|Q9Y299	Silent	SNP	ENST00000303324.2	37	c.648A>C	CCDS4641.1																																																																																				0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			3	52	0	0	0	1	0	3	52				
DRG1	4733	broad.mit.edu	37	22	31816310	31816310	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr22:31816310A>G	ENST00000331457.4	+	5	642	c.481A>G	c.(481-483)Att>Gtt	p.I161V	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	161	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TAAGAAGATAATTGAAAATGA	0.428																																						ENST00000331457.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(481-483)Att>Gtt		developmentally regulated GTP binding protein 1							81.0	76.0	78.0					22																	31816310		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31816310A>G	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.481A>G	22.37:g.31816310A>G	ENSP00000329715:p.Ile161Val		Somatic				DRG1_ENST00000433341.1_3'UTR	p.I161V	NM_004147.3	NP_004138.1	WXS	Illumina GAIIx	Phase_I	Q9Y295	DRG1_HUMAN			5	642	+			161			G.		B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.481A>G	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709524	0.68730	.	.	ENSG00000185721	ENST00000331457	T	0.16897	2.31	5.2	5.2	0.72013	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.67397	2.05	0.80722	D	1	P	0.40681	0.727	P	0.50570	0.644	T	0.05699	-1.0869	10	0.87932	D	0	-27.6891	14.5399	0.67984	1.0:0.0:0.0:0.0	.	161	Q9Y295	DRG1_HUMAN	V	161	ENSP00000329715:I161V	ENSP00000329715:I161V	I	+	1	0	DRG1	30146310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.648000	0.91062	2.082000	0.62665	0.533000	0.62120	ATT		0.428	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		12	44	0	0	0	1	0	12	44				
OR1L1	26737	broad.mit.edu	37	9	125424359	125424359	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr9:125424359G>A	ENST00000373686.1	+	1	515	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCATTGACCGCTATGTGGCC	0.458																																						ENST00000373686.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(514-516)cGc>cAc		olfactory receptor, family 1, subfamily L, member 1							260.0	235.0	243.0					9																	125424359		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424359G>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.515G>A	9.37:g.125424359G>A	ENSP00000362790:p.Arg172His		Somatic				OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H	p.R172H			WXS	Illumina GAIIx	Phase_I	Q8NH94	OR1L1_HUMAN			1	515	+			172					Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.515G>A		.	.	.	.	.	.	.	.	.	.	G	13.83	2.353302	0.41700	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.77489	-1.1;-1.1	3.11	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73273	0.3566	M	0.61703	1.905	0.27518	N	0.951488	B	0.21520	0.057	B	0.20184	0.028	T	0.66968	-0.5789	9	0.72032	D	0.01	.	9.2331	0.37450	0.1151:0.0:0.8849:0.0	.	172	Q8NH94	OR1L1_HUMAN	H	172;122	ENSP00000362790:R172H;ENSP00000310773:R122H	ENSP00000310773:R122H	R	+	2	0	OR1L1	124464180	0.996000	0.38824	0.317000	0.25265	0.010000	0.07245	7.528000	0.81941	0.623000	0.30267	0.313000	0.20887	CGC		0.458	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				4	116	0	0	0	1	0	4	116				
EIF1B	10289	broad.mit.edu	37	3	40353009	40353010	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:40353009_40353010insT	ENST00000232905.3	+	3	502_503	c.244_245insT	c.(244-246)gttfs	p.V82fs	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	82					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATACGGAGAGGTTATTCAGCTT	0.361																																						ENST00000232905.3																			0				central_nervous_system(1)|lung(3)	4						c.(244-246)gttfs		eukaryotic translation initiation factor 1B																																				SO:0001589	frameshift_variant	10289				regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40353009_40353010insT	BC006996	CCDS2690.1	3p22.1	2006-02-03			ENSG00000114784	ENSG00000114784			30792	protein-coding gene	gene with protein product						7904817	Standard	NM_005875		Approved	GC20	uc003ckc.3	O60739	OTTHUMG00000131388	ENST00000232905.3:c.246dupT	3.37:g.40353011_40353011dupT	ENSP00000232905:p.Val82fs		Somatic					p.V82fs	NM_005875.2	NP_005866.1	WXS	Illumina GAIIx	Phase_I	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	502_503	+			82					Q9UQF8	Frame_Shift_Ins	INS	ENST00000232905.3	37	c.244_245insT	CCDS2690.1																																																																																				0.361	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1	NM_005875		10	44						10	44	---	---	---	---
BAP1	8314	broad.mit.edu	37	3	52439229	52439229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:52439229delG	ENST00000460680.1	-	11	1484	c.1013delC	c.(1012-1014)cctfs	p.P339fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCTGCCTGGAGGCTTCACCAC	0.587			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		1	Deletion - Frameshift(1)	p.V335fs*10(1)	skin(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1012-1014)cctfs		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							113.0	120.0	117.0					3																	52439229		2203	4300	6503	SO:0001589	frameshift_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439229delG	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1013delC	3.37:g.52439229delG	ENSP00000417132:p.Pro339fs		Somatic				BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs	p.P339fs	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1484	-			339					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1013delC	CCDS2853.1																																																																																				0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			25	63						25	63	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)agafs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs		Somatic				FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	p.R483fs	NM_030917.3	NP_112179.2	WXS	Illumina GAIIx	Phase_I	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		7	37						7	37	---	---	---	---
CCAR2	57805	broad.mit.edu	37	8	22475962	22475963	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr8:22475962_22475963insA	ENST00000308511.4	+	17	2423_2424	c.2174_2175insA	c.(2173-2178)ttagagfs	p.E726fs	CCAR2_ENST00000389279.3_Frame_Shift_Ins_p.E726fs|CCAR2_ENST00000520861.1_Frame_Shift_Ins_p.E401fs|RP11-582J16.5_ENST00000521025.1_RNA|BIN3_ENST00000519335.1_5'Flank			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	726	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CGGCGAGACTTAGAGAGGATCC	0.564																																						ENST00000308511.4																			0											c.(2173-2178)ttagagfs		cell cycle and apoptosis regulator 2																																				SO:0001589	frameshift_variant	57805							g.chr8:22475962_22475963insA	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2175dupA	8.37:g.22475963_22475963dupA	ENSP00000310670:p.Glu726fs		Somatic				CCAR2_ENST00000520861.1_Frame_Shift_Ins_p.E401fs|CCAR2_ENST00000389279.3_Frame_Shift_Ins_p.E726fs	p.E726fs			WXS	Illumina GAIIx	Phase_I					17	2423_2424	+			726					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Frame_Shift_Ins	INS	ENST00000308511.4	37	c.2174_2175insA	CCDS34863.1																																																																																				0.564	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		17	51						17	51	---	---	---	---
