#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TP73	7161	broad.mit.edu	37	1	3624240	3624240	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:3624240C>T	ENST00000378295.4	+	4	469	c.314C>T	c.(313-315)aCc>aTc	p.T105I	TP73_ENST00000354437.4_Missense_Mutation_p.T105I|TP73_ENST00000603362.1_Missense_Mutation_p.T105I|TP73_ENST00000378280.1_Missense_Mutation_p.T56I|TP73_ENST00000604074.1_Missense_Mutation_p.T105I|TP73_ENST00000604479.1_Missense_Mutation_p.T105I|TP73_ENST00000357733.3_Missense_Mutation_p.T105I|TP73_ENST00000378285.1_Missense_Mutation_p.T56I|TP73_ENST00000378290.4_Missense_Mutation_p.T34I|TP73_ENST00000378288.4_Missense_Mutation_p.T56I|TP73_ENST00000346387.4_Missense_Mutation_p.T105I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	105					activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCCAGCTCCACCTTCGACACC	0.672																																						uc001akp.3																			0		p.S104F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(313-315)aCc>aTc		Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.							72.0	70.0	71.0					1																	3624240		2203	4300	6503	SO:0001583	missense	7161				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624240C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.314C>T	1.37:g.3624240C>T	ENSP00000367545:p.Thr105Ile					TP73_uc021ofb.1_Missense_Mutation_p.T105I|TP73_uc021ofc.1_Missense_Mutation_p.T105I|TP73_uc021ofd.1_Missense_Mutation_p.T105I|TP73_uc021ofe.1_Missense_Mutation_p.T105I|TP73_uc021off.1_Missense_Mutation_p.T105I|TP73_uc010nzj.2_Missense_Mutation_p.T56I|TP73_uc021ofg.1_Missense_Mutation_p.T56I|TP73_uc021ofh.1_Missense_Mutation_p.T56I|TP73_uc021ofi.1_Missense_Mutation_p.T56I|TP73_uc001akr.3_Missense_Mutation_p.T56I|TP73_uc009vlk.2_Missense_Mutation_p.T56I|TP73_uc001aks.3_Missense_Mutation_p.T56I|TP73_uc009vll.3_Missense_Mutation_p.T34I|TP73_uc010nzk.2_Missense_Mutation_p.T34I	p.T105I	NM_005427	NP_001191121	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	3	424	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	105					B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.314C>T	CCDS49.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016434	0.75161	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99515	-5.9;-6.05;-5.75;-5.83;-5.89;-6.06;-6.04;-5.91	4.6	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	L	0.57536	1.79	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	0.996;0.997;0.999;1.0;0.998;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.995;0.996;0.999;0.999;0.998;1.0;0.997	D	0.98883	1.0770	10	0.45353	T	0.12	-39.0669	13.1061	0.59247	0.1614:0.8386:0.0:0.0	.	56;34;56;56;56;105;105	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	I	105;105;105;105;56;56;56;34	ENSP00000367545:T105I;ENSP00000346423:T105I;ENSP00000350366:T105I;ENSP00000340740:T105I;ENSP00000367537:T56I;ENSP00000367534:T56I;ENSP00000367529:T56I;ENSP00000367539:T34I	ENSP00000340740:T105I	T	+	2	0	TP73	3614100	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.671000	0.83941	0.906000	0.36621	0.491000	0.48974	ACC		0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		36	53	0	0	0	1	0	36	53				
RABGAP1	23637	broad.mit.edu	37	9	125863904	125863904	+	Silent	SNP	A	A	G			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:125863904A>G	ENST00000373647.4	+	25	3083	c.2949A>G	c.(2947-2949)aaA>aaG	p.K983K	RABGAP1_ENST00000373643.5_Silent_p.K322K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	983					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GGCGTGTAAAAGGCATAAGCT	0.448																																						uc011lzh.2																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2947-2949)aaA>aaG		Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.							92.0	84.0	87.0					9																	125863904		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125863904A>G	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2949A>G	9.37:g.125863904A>G						RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Silent_p.K322K	p.K983K	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			24	3083	+			983					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.2949A>G	CCDS6848.2																																																																																				0.448	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		3	68	0	0	0	1	0	3	68				
PNN	5411	broad.mit.edu	37	14	39650419	39650419	+	Silent	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr14:39650419T>C	ENST00000216832.4	+	9	1573	c.1506T>C	c.(1504-1506)ccT>ccC	p.P502P	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	502	Gln-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CCTCTCAGCCTGAGGATTTGT	0.517																																						uc001wuw.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1504-1506)ccT>ccC		Homo sapiens pinin, desmosome associated protein (PNN), mRNA.							91.0	93.0	93.0					14																	39650419		2203	4300	6503	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650419T>C	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1506T>C	14.37:g.39650419T>C							p.P502P	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	8	1603	+	Hepatocellular(127;0.213)		502			Gln-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1506T>C	CCDS9671.1																																																																																				0.517	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		3	131	0	0	0	1	0	3	131				
ZNF230	7773	broad.mit.edu	37	19	44515136	44515136	+	Silent	SNP	A	A	G			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:44515136A>G	ENST00000429154.2	+	5	1173	c.945A>G	c.(943-945)aaA>aaG	p.K315K		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGTGTGGAAAAGGCTTCACTG	0.423																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(943-945)aaA>aaG		Homo sapiens zinc finger protein 230 (ZNF230), mRNA.							143.0	137.0	139.0					19																	44515136		2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515136A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.945A>G	19.37:g.44515136A>G							p.K315K	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			4	1196	+		Prostate(69;0.0352)	315					O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.945A>G	CCDS33044.1																																																																																				0.423	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			3	206	0	0	0	1	0	3	206				
TRIM13	10206	broad.mit.edu	37	13	50586828	50586828	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:50586828A>G	ENST00000378182.3	+	2	1490	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.Q251R|TRIM13_ENST00000298772.5_Missense_Mutation_p.Q254R|TRIM13_ENST00000356017.4_Missense_Mutation_p.Q254R|TRIM13_ENST00000457662.2_Missense_Mutation_p.Q251R|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	251					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTCTGCAACAGATGCAGGAG	0.413																																						uc001vdp.1																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(760-762)cAg>cGg		Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.							81.0	81.0	81.0					13																	50586828		2203	4300	6503	SO:0001583	missense	10206				ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586828A>G	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.752A>G	13.37:g.50586828A>G	ENSP00000367424:p.Gln251Arg					DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.Q251R|TRIM13_uc001vdr.1_Missense_Mutation_p.Q251R|TRIM13_uc001vds.1_Missense_Mutation_p.Q251R|TRIM13_uc021rjq.1_Missense_Mutation_p.Q251R	p.Q254R	NM_001007278	NP_998755	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	3	1179	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	251					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.761A>G	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962658	0.34659	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.25749	2.31;1.78;1.78;2.32;1.78;2.32	5.61	5.61	0.85477	.	0.056002	0.64402	D	0.000001	T	0.20129	0.0484	N	0.20986	0.625	0.49130	D	0.999759	P;P	0.39759	0.56;0.687	B;B	0.39503	0.092;0.301	T	0.03651	-1.1016	9	.	.	.	-4.5557	15.7868	0.78310	1.0:0.0:0.0:0.0	.	251;254	O60858;O60858-3	TRI13_HUMAN;.	R	251;251;251;254;251;254	ENSP00000367425:Q251R;ENSP00000412943:Q251R;ENSP00000367424:Q251R;ENSP00000348299:Q254R;ENSP00000399206:Q251R;ENSP00000298772:Q254R	.	Q	+	2	0	TRIM13	49484829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.848000	0.69458	2.119000	0.64992	0.533000	0.62120	CAG		0.413	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		6	127	0	0	0	1	0	6	127				
NOX5	79400	broad.mit.edu	37	15	69349008	69349008	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr15:69349008G>T	ENST00000388866.3	+	16	2311	c.2270G>T	c.(2269-2271)gGc>gTc	p.G757V	NOX5_ENST00000448182.3_Missense_Mutation_p.G711V|NOX5_ENST00000260364.5_Missense_Mutation_p.G739V|NOX5_ENST00000530406.2_Missense_Mutation_p.G729V|NOX5_ENST00000455873.3_Missense_Mutation_p.G722V	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	757					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GAGAAGTTCGGCTTCAGATTT	0.517																																						uc002ars.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2269-2271)gGc>gTc		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							78.0	75.0	76.0					15																	69349008		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	g.chr15:69349008G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2270G>T	15.37:g.69349008G>T	ENSP00000373518:p.Gly757Val					MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.G711V|NOX5_uc002arp.2_Missense_Mutation_p.G739V|NOX5_uc010bid.2_Missense_Mutation_p.G722V|NOX5_uc010bie.2_Missense_Mutation_p.G557V|NOX5_uc002arr.2_Missense_Mutation_p.G729V|NOX5_uc010bif.2_Non-coding_Transcript	p.G757V	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			15	2311	+			757					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2270G>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	7.635	0.679673	0.14907	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	T;T;T	0.73575	-0.76;-0.76;-0.76	3.0	1.96	0.26148	.	1.263890	0.05562	U	0.569407	T	0.72078	0.3416	M	0.64170	1.965	0.41562	D	0.988638	P;P;P	0.43477	0.773;0.808;0.741	B;B;B	0.41988	0.3;0.206;0.372	T	0.64305	-0.6439	10	0.62326	D	0.03	.	5.1776	0.15143	0.4452:0.0:0.5548:0.0	.	722;757;729	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	V	722;739;757;729	ENSP00000416828:G722V;ENSP00000373518:G757V;ENSP00000432440:G729V	ENSP00000373518:G757V	G	+	2	0	NOX5	67136062	0.931000	0.31567	0.104000	0.21259	0.011000	0.07611	1.381000	0.34362	0.363000	0.24346	0.505000	0.49811	GGC		0.517	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		48	36	0	0	0	1	0	48	36				
PPP2R1B	5519	broad.mit.edu	37	11	111625705	111625705	+	Splice_Site	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr11:111625705T>C	ENST00000527614.1	-	7	1022	c.957A>G	c.(955-957)aaA>aaG	p.K319K	PPP2R1B_ENST00000341980.6_Splice_Site_p.K319K|PPP2R1B_ENST00000311129.5_Splice_Site_p.K319K|PPP2R1B_ENST00000393055.2_Splice_Site_p.K192K|PPP2R1B_ENST00000427203.2_Splice_Site_p.K158K|PPP2R1B_ENST00000426998.2_Splice_Site_p.K255K	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	319					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCCTTAACCTTTTACTTTGT	0.383																																						uc001plw.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.e7+1		Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.							76.0	78.0	78.0					11																	111625705		2201	4297	6498	SO:0001630	splice_region_variant	5519						protein binding	g.chr11:111625705T>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.958+1A>G	11.37:g.111625705T>C						PPP2R1B_uc010rwi.1_Splice_Site_p.E256_splice|PPP2R1B_uc001plx.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwk.1_Splice_Site_p.E320_splice|PPP2R1B_uc010rwl.1_Splice_Site_p.E193_splice|PPP2R1B_uc010rwj.1_Splice_Site_p.E159_splice	p.E320_splice	NM_181699	NP_859050	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	7	1042	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	320					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Splice_Site	SNP	ENST00000527614.1	37	c.958_splice	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	T	15.40	2.823141	0.50739	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	T	0.70465	0.3227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69647	-0.5089	4	.	.	.	-17.5699	14.0143	0.64515	0.0:0.0:0.0:1.0	.	.	.	.	G	20	.	.	R	-	1	2	PPP2R1B	111130915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.915000	0.69973	2.195000	0.70347	0.533000	0.62120	AGA		0.383	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	Silent	3	80	0	0	0	1	0	3	80				
GZMM	3004	broad.mit.edu	37	19	547312	547312	+	Missense_Mutation	SNP	C	C	T	rs373840917		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:547312C>T	ENST00000264553.3	+	2	126	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	30	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGGGGGCCGGGAGGTGAT	0.647																																						uc002low.1																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(88-90)Cgg>Tgg		Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.		C	TRP/ARG	0,4406		0,0,2203	53.0	56.0	55.0		88	1.4	0.0	19		55	1,8597	1.2+/-3.3	0,1,4298	no	missense	GZMM	NM_005317.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	30/258	547312	1,13003	2203	4299	6502	SO:0001583	missense	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:547312C>T		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"""lymphocyte met-ase 1"""	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.88C>T	19.37:g.547312C>T	ENSP00000264553:p.Arg30Trp						p.R30W	NM_005317	NP_005308	P51124	GRAM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	133	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	30			Peptidase S1.			Missense_Mutation	SNP	ENST00000264553.3	37	c.88C>T	CCDS12031.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889350	0.52014	0.0	1.16E-4	ENSG00000197540	ENST00000264553	D	0.89552	-2.53	3.64	1.39	0.22231	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.097850	0.03575	U	0.229299	D	0.91882	0.7430	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76157	-0.3062	10	0.59425	D	0.04	.	4.5409	0.12056	0.2367:0.6441:0.0:0.1192	.	30	P51124	GRAM_HUMAN	W	30	ENSP00000264553:R30W	ENSP00000264553:R30W	R	+	1	2	GZMM	498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.058000	0.14301	0.303000	0.22785	-0.410000	0.06199	CGG		0.647	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		78	84	0	0	0	1	0	78	84				
ZZZ3	26009	broad.mit.edu	37	1	78097775	78097775	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:78097775T>A	ENST00000370801.3	-	5	1740	c.1265A>T	c.(1264-1266)aAt>aTt	p.N422I	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	422					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTGACTTACATTATCACTAAC	0.343																																						uc001dhq.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(1264-1266)aAt>aTt		Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.							95.0	90.0	91.0					1																	78097775		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097775T>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1265A>T	1.37:g.78097775T>A	ENSP00000359837:p.Asn422Ile					ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.N422I|ZZZ3_uc001dhp.3_Missense_Mutation_p.N422I	p.N422I	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			4	1741	-			422					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1265A>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	5.168	0.216492	0.09810	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.64	3.15	0.36227	.	0.247523	0.39909	N	0.001235	T	0.16257	0.0391	N	0.22421	0.69	0.80722	D	1	P;B;B	0.45474	0.859;0.306;0.432	B;B;B	0.37304	0.246;0.08;0.165	T	0.02288	-1.1182	8	.	.	.	.	12.4923	0.55907	0.0:0.0:0.3976:0.6024	.	422;422;422	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	I	422	.	.	N	-	2	0	ZZZ3	77870363	0.997000	0.39634	0.991000	0.47740	0.329000	0.28539	1.036000	0.30228	1.066000	0.40716	0.533000	0.62120	AAT		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		4	86	0	0	0	1	0	4	86				
IRX6	79190	broad.mit.edu	37	16	55363139	55363139	+	Silent	SNP	C	C	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr16:55363139C>T	ENST00000290552.7	+	5	2581	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	417					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAAGTTTGCCCTGCAGGGACT	0.642																																						uc002ehy.3																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1249-1251)Ctg>Ttg		Homo sapiens iroquois homeobox 6 (IRX6), mRNA.							54.0	61.0	59.0					16																	55363139		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55363139C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1249C>T	16.37:g.55363139C>T						IRX6_uc002ehx.3_Silent_p.L417L	p.L417L	NM_024335	NP_077311	P78412	IRX6_HUMAN			4	1782	+			417					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.1249C>T	CCDS32449.1																																																																																				0.642	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		8	140	0	0	0	1	0	8	140				
ZNF341	84905	broad.mit.edu	37	20	32341114	32341114	+	Missense_Mutation	SNP	G	G	A	rs567905770		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr20:32341114G>A	ENST00000375200.1	+	5	991	c.626G>A	c.(625-627)cGt>cAt	p.R209H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R209H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCCCTGGGCGTCCCAACCCT	0.697																																						uc002wzy.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(625-627)cGt>cAt		Homo sapiens zinc finger protein 341 (ZNF341), mRNA.							43.0	36.0	38.0					20																	32341114		2201	4298	6499	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32341114G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.626G>A	20.37:g.32341114G>A	ENSP00000364346:p.Arg209His					ZNF341_uc002wzx.3_Missense_Mutation_p.R209H|ZNF341_uc010geq.3_Missense_Mutation_p.R119H|ZNF341_uc010ger.3_Non-coding_Transcript	p.R209H	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			4	646	+			209					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.626G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.128755	0.77549	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09630	3.18;2.96	5.05	4.04	0.47022	.	0.521385	0.20662	N	0.088003	T	0.08492	0.0211	L	0.40543	1.245	0.32145	N	0.585069	D;D;B	0.60160	0.987;0.987;0.025	P;P;B	0.48488	0.579;0.499;0.008	T	0.08351	-1.0726	10	0.02654	T	1	-18.5689	3.7277	0.08481	0.2092:0.2281:0.5627:0.0	.	150;209;209	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	H	209	ENSP00000344308:R209H;ENSP00000364346:R209H	ENSP00000344308:R209H	R	+	2	0	ZNF341	31804775	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	2.587000	0.46128	2.377000	0.81083	0.456000	0.33151	CGT		0.697	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				13	10	0	0	0	1	0	13	10				
GABRQ	55879	broad.mit.edu	37	X	151818902	151818902	+	Missense_Mutation	SNP	C	C	T	rs376267415		TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chrX:151818902C>T	ENST00000370306.2	+	7	780	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	254					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCTACATACGCCTGATACT	0.522																																						uc004ffp.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(760-762)Cgc>Tgc		Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.		C	CYS/ARG	1,3834		0,1,1631,571	303.0	264.0	277.0		760	5.2	0.9	X		277	0,6728		0,0,2428,1872	no	missense	GABRQ	NM_018558.2	180	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	254/633	151818902	1,10562	2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity	g.chrX:151818902C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.760C>T	X.37:g.151818902C>T	ENSP00000359329:p.Arg254Cys						p.R254C	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			6	780	+	Acute lymphoblastic leukemia(192;6.56e-05)		254					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.760C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506597	0.64410	2.61E-4	0.0	ENSG00000147402	ENST00000370306	T	0.79749	-1.3	6.08	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000078	T	0.81809	0.4901	N	0.21508	0.67	0.53688	D	0.999979	D	0.89917	1.0	D	0.81914	0.995	T	0.80091	-0.1527	10	0.30854	T	0.27	.	13.1189	0.59314	0.1609:0.8391:0.0:0.0	.	254	Q9UN88	GBRT_HUMAN	C	254	ENSP00000359329:R254C	ENSP00000359329:R254C	R	+	1	0	GABRQ	151569558	0.994000	0.37717	0.929000	0.37066	0.882000	0.50991	1.425000	0.34859	1.252000	0.44001	0.600000	0.82982	CGC		0.522	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		12	487	0	0	0	1	0	12	487				
CR2	1380	broad.mit.edu	37	1	207643143	207643143	+	Silent	SNP	G	G	A			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr1:207643143G>A	ENST00000367058.3	+	6	1110	c.921G>A	c.(919-921)ccG>ccA	p.P307P	CR2_ENST00000367059.3_Silent_p.P307P|CR2_ENST00000367057.3_Silent_p.P307P|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Silent_p.P307P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	307	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTTGTGACCCGGACCCAGAGG	0.488																																						uc001hfv.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(919-921)ccG>ccA		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 1, mRNA.							105.0	95.0	98.0					1																	207643143		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207643143G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.921G>A	1.37:g.207643143G>A						CR2_uc001hfw.3_Silent_p.P307P|CR2_uc009xch.3_Silent_p.P307P|CR2_uc009xci.1_5'Flank	p.P307P	NM_001006658	NP_001006659	P20023	CR2_HUMAN			5	1040	+			307			Sushi 5.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.921G>A	CCDS1478.1																																																																																				0.488	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		4	98	0	0	0	1	0	4	98				
LDB3	11155	broad.mit.edu	37	10	88441198	88441198	+	Silent	SNP	C	C	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88441198C>T	ENST00000361373.4	+	4	348	c.327C>T	c.(325-327)ccC>ccT	p.P109P	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Silent_p.P109P|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000372056.4_Silent_p.P109P|LDB3_ENST00000542786.1_Silent_p.P109P|LDB3_ENST00000429277.2_Silent_p.P109P|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCAGGACCCCGCTCTGGACA	0.677																																						uc010qmm.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(325-327)ccC>ccT		Homo sapiens LIM domain binding 3 (LDB3), transcript variant 5, mRNA.							51.0	59.0	56.0					10																	88441198		2202	4297	6499	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441198C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.327C>T	10.37:g.88441198C>T						LDB3_uc010qml.1_Silent_p.P109P|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Intron|LDB3_uc001kdv.3_Silent_p.P109P|LDB3_uc001kdr.3_Intron|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.P109P|LDB3_uc001kds.3_Silent_p.P109P	p.P109P	NM_001171610	NP_001165081	O75112	LDB3_HUMAN			4	472	+			109						Silent	SNP	ENST00000361373.4	37	c.327C>T	CCDS7377.1																																																																																				0.677	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			4	183	0	0	0	1	0	4	183				
ZNF462	58499	broad.mit.edu	37	9	109687520	109687520	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr9:109687520T>C	ENST00000277225.5	+	3	1616	c.1327T>C	c.(1327-1329)Ttt>Ctt	p.F443L	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.F443L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	443					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCAGTGCCCCTTTTGTCCTTT	0.463																																						uc004bcz.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1327-1329)Ttt>Ctt		Homo sapiens zinc finger protein 462 (ZNF462), mRNA.							147.0	142.0	144.0					9																	109687520		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687520T>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1327T>C	9.37:g.109687520T>C	ENSP00000277225:p.Phe443Leu					MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.F291L|ZNF462_uc004bda.3_Missense_Mutation_p.F291L	p.F443L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			2	1616	+			443					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1327T>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279775	0.59758	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05649	3.41;3.87	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.095596	0.85682	D	0.000000	T	0.06416	0.0165	N	0.19112	0.55	0.80722	D	1	P;P	0.40534	0.72;0.643	B;B	0.42188	0.261;0.379	T	0.53063	-0.8491	9	.	.	.	.	14.5926	0.68378	0.0:0.0:0.0:1.0	.	443;443	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	443	ENSP00000277225:F443L;ENSP00000414570:F443L	.	F	+	1	0	ZNF462	108727341	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.619000	0.83057	2.188000	0.69820	0.459000	0.35465	TTT		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		3	126	0	0	0	1	0	3	126				
FAM35A	54537	broad.mit.edu	37	10	88911225	88911225	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr10:88911225A>T	ENST00000298784.1	+	3	228	c.114A>T	c.(112-114)aaA>aaT	p.K38N	FAM35A_ENST00000298786.4_Missense_Mutation_p.K38N|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	38										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCTGGAAAAAAATTCAGCTTT	0.373																																					Ovarian(175;703 2004 25460 32514 43441)	uc001kei.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(112-114)aaA>aaT		Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.							22.0	24.0	24.0					10																	88911225		2187	4284	6471	SO:0001583	missense	54537							g.chr10:88911225A>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.114A>T	10.37:g.88911225A>T	ENSP00000298784:p.Lys38Asn						p.K38N	NM_019054	NP_061927	Q86V20	FA35A_HUMAN			2	228	+			38					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.114A>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	a	13.53	2.263666	0.39995	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.24723	1.84;1.85;1.85	4.07	-0.965	0.10323	.	0.497156	0.16521	N	0.210802	T	0.29976	0.0750	L	0.50333	1.59	0.09310	N	1	D	0.61697	0.99	P	0.54174	0.744	T	0.14727	-1.0462	10	0.51188	T	0.08	-5.8079	7.699	0.28611	0.6289:0.0:0.3711:0.0	.	38	Q86V20	FA35A_HUMAN	N	38	ENSP00000298786:K38N;ENSP00000298784:K38N;ENSP00000351064:K38N	ENSP00000298784:K38N	K	+	3	2	FAM35A	88901205	0.003000	0.15002	0.010000	0.14722	0.122000	0.20287	0.174000	0.16743	-0.378000	0.07918	-0.540000	0.04249	AAA		0.373	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		21	16	0	0	0	1	0	21	16				
MYCBP2	23077	broad.mit.edu	37	13	77740543	77740543	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr13:77740543A>T	ENST00000544440.2	-	41	6164	c.6147T>A	c.(6145-6147)caT>caA	p.H2049Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.H2049Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.H2087Q					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAGATTTTCATGAACAGATG	0.383																																						uc021rks.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(6259-6261)caT>caA		Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.							84.0	84.0	84.0					13																	77740543		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77740543A>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6147T>A	13.37:g.77740543A>T	ENSP00000444596:p.His2049Gln					MYCBP2_uc010aev.3_Missense_Mutation_p.H1453Q	p.H2087Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	40	6528	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2049						Missense_Mutation	SNP	ENST00000544440.2	37	c.6261T>A		.	.	.	.	.	.	.	.	.	.	A	14.76	2.630698	0.46944	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27104	1.69;1.69;1.69	5.79	2.0	0.26442	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	N	0.22421	0.69	0.48288	D	0.999622	P	0.50156	0.932	D	0.63703	0.917	T	0.01608	-1.1313	10	0.26408	T	0.33	.	9.8029	0.40775	0.8019:0.0:0.1981:0.0	.	2049	O75592	MYCB2_HUMAN	Q	2049;2087;2049	ENSP00000349892:H2049Q;ENSP00000384288:H2087Q;ENSP00000444596:H2049Q	ENSP00000349892:H2049Q	H	-	3	2	MYCBP2	76638544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.072000	0.30678	0.466000	0.27193	0.528000	0.53228	CAT		0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		5	72	0	0	0	1	0	5	72				
ZBTB32	27033	broad.mit.edu	37	19	36206734	36206734	+	Splice_Site	SNP	T	T	C			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:36206734T>C	ENST00000392197.2	+	4	1273		c.e4+2		KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_5'Flank|ZBTB32_ENST00000262630.3_Splice_Site			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32						DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGTAAGCCCCTCG	0.617																																						uc002oay.3																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.e3+2		Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.							69.0	66.0	67.0					19																	36206734		2203	4300	6503	SO:0001630	splice_region_variant	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36206734T>C	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.955+2T>C	19.37:g.36206734T>C						ZBTB32_uc002oaz.3_Intron|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	p.G319_splice	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	1165	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		319					Q8WVP2	Splice_Site	SNP	ENST00000392197.2	37	c.955_splice	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120667	0.56613	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	4.86	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6896	0.28561	0.1872:0.0:0.0:0.8128	.	.	.	.	.	-1	.	.	.	+	.	.	ZBTB32	40898574	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.583000	0.36579	0.858000	0.35431	0.533000	0.62120	.		0.617	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	Intron	3	84	0	0	0	1	0	3	84				
HIF3A	64344	broad.mit.edu	37	19	46815428	46815428	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr19:46815428G>T	ENST00000377670.4	+	7	812	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Missense_Mutation_p.V192L|HIF3A_ENST00000300862.3_Missense_Mutation_p.V259L|HIF3A_ENST00000244303.6_Missense_Mutation_p.V192L|HIF3A_ENST00000472815.1_Missense_Mutation_p.V192L|HIF3A_ENST00000339613.2_Missense_Mutation_p.V205L|HIF3A_ENST00000420102.2_Missense_Mutation_p.V210L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	261	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GATTGCAGAAGTGGCTGGCTA	0.592																																						uc002peh.3																			0		p.A260T(1)|p.G261D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(781-783)Gtg>Ttg		Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.							157.0	148.0	151.0					19																	46815428		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46815428G>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.781G>T	19.37:g.46815428G>T	ENSP00000366898:p.Val261Leu					HIF3A_uc002pef.2_Missense_Mutation_p.V261L|HIF3A_uc002peg.4_Missense_Mutation_p.V261L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.V205L|HIF3A_uc002pej.2_Missense_Mutation_p.V192L|HIF3A_uc010xxy.2_Missense_Mutation_p.V192L|HIF3A_uc002pel.3_Missense_Mutation_p.V259L|HIF3A_uc010xxz.2_Missense_Mutation_p.V210L	p.V261L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	6	812	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	261			PAS 2.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.781G>T	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.361|0.361	-0.939641|-0.939641	0.02322|0.02322	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000457771;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.15603	.|2.41;2.41;2.41;2.41;2.41	4.3|4.3	4.3|4.3	0.51218|0.51218	.|PAS fold-3 (1);PAS (3);	.|0.000000	.|0.36101	.|N	.|0.002785	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.00496|0.00496	-1.435|-1.435	0.36474|0.36474	D|D	0.86741|0.86741	.|B;D;B;P;B;B;B;B	.|0.58620	.|0.024;0.983;0.114;0.515;0.139;0.139;0.276;0.012	.|B;P;B;B;B;B;B;B	.|0.62740	.|0.032;0.906;0.038;0.212;0.065;0.065;0.145;0.02	T|T	0.37150|0.37150	-0.9718|-0.9718	5|10	.|0.02654	.|T	.|1	.|.	9.8229|9.8229	0.40894|0.40894	0.0:0.0:0.7951:0.2049|0.0:0.0:0.7951:0.2049	.|.	.|210;192;259;210;205;261;261;261	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.|.;.;.;.;.;HIF3A_HUMAN;.;.	I|L	233|261;261;261;169;261;192;205;192;205;259;210	.|ENSP00000366898:V261L;ENSP00000244303:V192L;ENSP00000341877:V205L;ENSP00000300862:V259L;ENSP00000407771:V210L	.|ENSP00000244302:V261L	S|V	+|+	2|1	0|0	HIF3A|HIF3A	51507268|51507268	1.000000|1.000000	0.71417|0.71417	0.785000|0.785000	0.31869|0.31869	0.390000|0.390000	0.30446|0.30446	1.094000|1.094000	0.30951|0.30951	2.390000|2.390000	0.81377|0.81377	0.591000|0.591000	0.81541|0.81541	AGT|GTG		0.592	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			9	241	0	0	0	1	0	9	241				
SLA	6503	broad.mit.edu	37	8	134072405	134072408	+	Start_Codon_Del	DEL	TTTC	TTTC	-			TCGA-ET-A3DV-01A-12D-A202-08	TCGA-ET-A3DV-11A-11D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5deeaa45-4c1b-4ab2-a487-93c548838f68	bba5ac91-59b6-4cae-9199-e31d43571f57	g.chr8:134072405_134072408delTTTC	ENST00000338087.5	-	0	817_820				SLA_ENST00000427060.2_Frame_Shift_Del_p.EM40fs|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Frame_Shift_Del_p.EM17fs|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Frame_Shift_Del_p.EM17fs|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor						positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CTGTTTCCCATTTCTTTCTTTTTC	0.578																																						uc011ljd.2																			0		p.P40H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(118-123)gaaatgfs		Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.																																				SO:0001582	initiator_codon_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134072405_134072408delTTTC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439		8.37:g.134072409_134072412delTTTC						TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Start_Codon_Del|SLA_uc011lje.2_Frame_Shift_Del_p.E17fs|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Frame_Shift_Del_p.E17fs|SLA_uc010mdy.1_Start_Codon_Del|SLA_uc010mdz.1_Start_Codon_Del|SLA_uc010mea.2_Non-coding_Transcript	p.E40fs	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		0	196_199	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	0			SH3.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Frame_Shift_Del	DEL	ENST00000338087.5	37	c.118_121delGAAA	CCDS6370.1																																																																																				0.578	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			55	83						55	83	---	---	---	---
