#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
IGF1R	3480	broad.mit.edu	37	15	99486194	99486194	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr15:99486194G>A	ENST00000268035.6	+	19	4111	c.3500G>A	c.(3499-3501)cGg>cAg	p.R1167Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.R1166Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GACTATTACCGGAAAGGAGGG	0.537																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3499-3501)cGg>cAg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						127.0	120.0	122.0					15																	99486194		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99486194G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3500G>A	15.37:g.99486194G>A	ENSP00000268035:p.Arg1167Gln					IGF1R_ENST00000558762.1_Missense_Mutation_p.R1166Q	p.R1167Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		19	4111	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1167			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3500G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	37	6.043351	0.97231	.	.	ENSG00000140443	ENST00000268035	D	0.82711	-1.64	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000077	D	0.88566	0.6471	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.89221	0.3571	10	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	1166;1167	C9J5X1;P08069	.;IGF1R_HUMAN	Q	1167	ENSP00000268035:R1167Q	ENSP00000268035:R1167Q	R	+	2	0	IGF1R	97303717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.835000	0.99442	2.646000	0.89796	0.655000	0.94253	CGG		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		4	71	0	0	0	1	0	4	71				
AKR7A3	22977	broad.mit.edu	37	1	19615030	19615030	+	Silent	SNP	A	A	C	rs199899317	byFrequency	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:19615030A>C	ENST00000361640.4	-	1	714	c.174T>G	c.(172-174)ctT>ctG	p.L58L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	58					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCCGCCAAGGATGGTCT	0.697																																						ENST00000361640.4																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(172-174)ctT>ctG		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							24.0	26.0	25.0					1																	19615030		2202	4298	6500	SO:0001819	synonymous_variant	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19615030A>C	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.174T>G	1.37:g.19615030A>C							p.L58L	NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	714	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	58					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	c.174T>G	CCDS193.1																																																																																				0.697	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		3	17	0	0	0	1	0	3	17				
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	lincRNA	SNP	C	C	T	rs6583275	byFrequency	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886									long intergenic non-protein coding RNA 969																		CTTTGAGGTGCACTGGAGGAA	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		35599	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			440993							g.chr3:195410689C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410689C>T														0	1886	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	14	0	0	0	1	0	3	14				
SPON1	10418	broad.mit.edu	37	11	14284282	14284282	+	RNA	SNP	G	G	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:14284282G>T	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							CTCACCGAGTGGTCCCAGTGG	0.517																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							67.0	68.0	68.0					11																	14284282		2064	4199	6263			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284282G>T																													11.37:g.14284282G>T										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2556	+									RNA	SNP	ENST00000534587.1	37			.	.	.	.	.	.	.	.	.	.	G	15.94	2.979953	0.53827	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	.	.	.	0.80722	D	1.000000	D	0.89917	1.0	D	0.87578	0.998	T	0.83158	-0.0100	7	0.59425	D	0.04	.	17.8376	0.88704	0.0:0.0:1.0:0.0	.	674	Q9HCB6	SPON1_HUMAN	L	673	.	ENSP00000309297:W673L	W	+	2	0	SPON1	14240858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.815000	0.96918	0.561000	0.74099	TGG		0.517	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			5	16	1	0	0.0293803	1	0.0293803	5	16				
SPON1	10418	broad.mit.edu	37	11	14284285	14284285	+	RNA	SNP	C	C	G			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:14284285C>G	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							ACCGAGTGGTCCCAGTGGTCG	0.517																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							68.0	69.0	69.0					11																	14284285		2062	4201	6263			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284285C>G																													11.37:g.14284285C>G										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2559	+									RNA	SNP	ENST00000534587.1	37			.	.	.	.	.	.	.	.	.	.	C	15.86	2.957338	0.53400	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.93	5.93	0.95920	.	0.102137	0.64402	D	0.000002	T	0.79197	0.4405	.	.	.	0.48975	D	0.999735	D	0.76494	0.999	D	0.65323	0.934	T	0.80379	-0.1407	7	0.66056	D	0.02	.	17.8376	0.88704	0.0:1.0:0.0:0.0	.	675	Q9HCB6	SPON1_HUMAN	C	674	.	ENSP00000309297:S674C	S	+	2	0	SPON1	14240861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.775000	0.68915	2.815000	0.96918	0.561000	0.74099	TCC		0.517	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			5	15	0	0	0	1	0	5	15				
FRG1B	284802	broad.mit.edu	37	20	29633906	29633906	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr20:29633906A>T	ENST00000278882.3	+	9	925	c.545A>T	c.(544-546)aAt>aTt	p.N182I	FRG1B_ENST00000358464.4_Missense_Mutation_p.N182I			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	182										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAGAACCAAATTGAAAGCCG	0.264																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(544-546)aAt>aTt																																						SO:0001583	missense	284802							g.chr20:29633906A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.545A>T	20.37:g.29633906A>T	ENSP00000278882:p.Asn182Ile					FRG1B_ENST00000358464.4_Missense_Mutation_p.N182I	p.N182I							9	925	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.545A>T		.	.	.	.	.	.	.	.	.	.	a	12.41	1.928993	0.34002	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21527	N	0.99965	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	.	.	.	.	I	182	.	ENSP00000278882:N182I	N	+	2	0	FRG1B	28247567	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.816000	0.38992	0.995000	0.38917	0.411000	0.27672	AAT		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	58	0	0	0	1	0	3	58				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			440993							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	15	0	0	0	1	0	3	15				
STK40	83931	broad.mit.edu	37	1	36823840	36823840	+	Splice_Site	SNP	C	C	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:36823840C>T	ENST00000373129.3	-	5	748	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK40_ENST00000359297.2_Splice_Site_p.Q114Q|STK40_ENST00000373132.3_Splice_Site_p.Q114Q|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Splice_Site_p.Q119Q	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GGCCGCTCACCTGGAAGAGGC	0.647																																						ENST00000359297.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.e3+1		serine/threonine kinase 40							61.0	53.0	56.0					1																	36823840		2203	4300	6503	SO:0001630	splice_region_variant	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36823840C>T	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.342+1G>A	1.37:g.36823840C>T						STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Splice_Site_p.Q119_splice|STK40_ENST00000373132.3_Splice_Site_p.Q114_splice|STK40_ENST00000373129.3_Splice_Site_p.Q114_splice	p.Q114_splice			Q8N2I9	STK40_HUMAN			3	349	-		Myeloproliferative disorder(586;0.0393)	114			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Splice_Site	SNP	ENST00000373129.3	37	c.342_splice	CCDS407.1																																																																																				0.647	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017	Silent	6	20	0	0	0	1	0	6	20				
CAGE1	285782	broad.mit.edu	37	6	7373788	7373788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr6:7373788C>A	ENST00000512086.1	-	5	1466	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	CAGE1_ENST00000502583.1_Nonsense_Mutation_p.E422*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E286*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	422										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATGTACCTTTCCTGTAAACAC	0.343																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1264-1266)Gaa>Taa		cancer antigen 1							107.0	94.0	98.0					6																	7373788		1859	4098	5957	SO:0001587	stop_gained	285782							g.chr6:7373788C>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1264G>T	6.37:g.7373788C>A	ENSP00000427583:p.Glu422*					CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.E422*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E286*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E422*	p.E422*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1828	-	Ovarian(93;0.0418)		422					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Nonsense_Mutation	SNP	ENST00000512086.1	37	c.1264G>T		.	.	.	.	.	.	.	.	.	.	C	19.40	3.820381	0.71028	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	.	.	.	5.66	3.9	0.45041	.	0.087960	0.49305	D	0.000144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.3938	8.558	0.33494	0.0:0.8257:0.0:0.1743	.	.	.	.	X	422;422;422;286;422;422;422;434	.	ENSP00000296742:E286X	E	-	1	0	CAGE1	7318787	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	1.984000	0.40658	0.764000	0.33197	-0.229000	0.12294	GAA		0.343	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		6	37	1	0	1.6384e-10	1	1.87246e-10	6	37				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	29	0	0	0	1	0	3	29				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	142	0	0	0	1	0	4	142				
TAF9	6880	broad.mit.edu	37	5	68661172	68661172	+	Silent	SNP	A	A	C			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr5:68661172A>C	ENST00000328663.4	-	3	859	c.393T>G	c.(391-393)tcT>tcG	p.S131S	TAF9_ENST00000217893.5_Silent_p.S131S|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Silent_p.S131S|TAF9_ENST00000380818.3_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	131					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TTTTCTGTAAAGATTTCAGCC	0.443																																						ENST00000328663.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(391-393)tcT>tcG		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							154.0	157.0	156.0					5																	68661172		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68661172A>C	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.393T>G	5.37:g.68661172A>C						TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Silent_p.S131S|TAF9_ENST00000506736.1_Silent_p.S131S	p.S131S	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	859	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	0					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.393T>G	CCDS4002.1																																																																																				0.443	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		9	165	0	0	0	1	0	9	165				
ZNF287	57336	broad.mit.edu	37	17	16456249	16456249	+	Missense_Mutation	SNP	T	T	C			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr17:16456249T>C	ENST00000395824.1	-	6	1824	c.1207A>G	c.(1207-1209)Aaa>Gaa	p.K403E	ZNF287_ENST00000395825.3_Missense_Mutation_p.K403E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	396					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTAAACTCTTTCCCACATTCT	0.428																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1207-1209)Aaa>Gaa		zinc finger protein 287							191.0	174.0	180.0					17																	16456249		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456249T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1207A>G	17.37:g.16456249T>C	ENSP00000379168:p.Lys403Glu					ZNF287_ENST00000395825.3_Missense_Mutation_p.K403E	p.K403E			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1824	-			396					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1207A>G	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385490	0.42308	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.27104	1.69;1.69	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000020	T	0.46580	0.1400	M	0.73430	2.235	0.41404	D	0.987697	D	0.62365	0.991	P	0.59221	0.854	T	0.50725	-0.8794	10	0.87932	D	0	.	13.5753	0.61870	0.0:0.0:0.0:1.0	.	396	Q9HBT7	ZN287_HUMAN	E	403	ENSP00000379169:K403E;ENSP00000379168:K403E	ENSP00000379168:K403E	K	-	1	0	ZNF287	16396974	1.000000	0.71417	0.995000	0.50966	0.603000	0.37013	4.002000	0.57053	2.371000	0.80710	0.533000	0.62120	AAA		0.428	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			14	90	0	0	0	1	0	14	90				
FADD	8772	broad.mit.edu	37	11	70052302	70052302	+	Missense_Mutation	SNP	G	G	C			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:70052302G>C	ENST00000301838.4	+	2	647	c.350G>C	c.(349-351)cGt>cCt	p.R117P	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	117	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGCTGGCTCGTCAGCTCAAA	0.498																																						ENST00000301838.4																			0				endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9						c.(349-351)cGt>cCt		Fas (TNFRSF6)-associated via death domain							83.0	68.0	73.0					11																	70052302		2200	4294	6494	SO:0001583	missense	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70052302G>C	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.350G>C	11.37:g.70052302G>C	ENSP00000301838:p.Arg117Pro						p.R117P	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		2	647	+	Esophageal squamous(2;1.19e-45)		117			Death.		Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	c.350G>C	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914301	0.72983	.	.	ENSG00000168040	ENST00000301838	D	0.88354	-2.37	4.85	4.85	0.62838	Death (3);DEATH-like (3);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.89715	3.055	0.49213	D	0.999764	D	0.89917	1.0	D	0.91635	0.999	D	0.96443	0.9328	10	0.87932	D	0	-13.2903	16.7106	0.85384	0.0:0.0:1.0:0.0	.	117	Q13158	FADD_HUMAN	P	117	ENSP00000301838:R117P	ENSP00000301838:R117P	R	+	2	0	FADD	69729950	0.996000	0.38824	0.047000	0.18901	0.807000	0.45602	6.090000	0.71397	2.219000	0.72066	0.561000	0.74099	CGT		0.498	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		5	11	0	0	0	1	0	5	11				
AKR7A3	22977	broad.mit.edu	37	1	19615023	19615023	+	Silent	SNP	G	G	A	rs115242113	byFrequency	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:19615023G>A	ENST00000361640.4	-	1	721	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	61					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)	p.L61L(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGCCCCAGGCCGCCAAGG	0.692																																						ENST00000361640.4																			1	Substitution - coding silent(1)	p.L61L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(181-183)Ctg>Ttg		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							23.0	25.0	25.0					1																	19615023		2202	4298	6500	SO:0001819	synonymous_variant	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19615023G>A	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.181C>T	1.37:g.19615023G>A							p.L61L	NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	721	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	61					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	c.181C>T	CCDS193.1																																																																																				0.692	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		4	15	0	0	0	1	0	4	15				
OR8A1	390275	broad.mit.edu	37	11	124440082	124440082	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:124440082C>T	ENST00000284287.3	+	1	190	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	40					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAGAGCAGACCTCCAGCTCCC	0.527																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(118-120)Ctc>Ttc		olfactory receptor, family 8, subfamily A, member 1							100.0	93.0	96.0					11																	124440082		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440082C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.118C>T	11.37:g.124440082C>T	ENSP00000284287:p.Leu40Phe						p.L40F	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	190	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	40					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.118C>T	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	9.712	1.157231	0.21454	.	.	ENSG00000196119	ENST00000284287	T	0.05382	3.45	5.08	2.23	0.28157	.	0.191207	0.25310	N	0.031598	T	0.09598	0.0236	M	0.79343	2.45	0.33286	D	0.562854	B	0.17268	0.021	B	0.23852	0.049	T	0.02581	-1.1138	10	0.56958	D	0.05	.	6.3012	0.21113	0.0:0.5939:0.172:0.2342	.	40	Q8NGG7	OR8A1_HUMAN	F	40	ENSP00000284287:L40F	ENSP00000284287:L40F	L	+	1	0	OR8A1	123945292	0.000000	0.05858	0.932000	0.37286	0.530000	0.34684	-1.101000	0.03336	0.326000	0.23384	0.585000	0.79938	CTC		0.527	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		23	13	0	0	0	1	0	23	13				
FAM107A	11170	broad.mit.edu	37	3	58552410	58552410	+	Missense_Mutation	SNP	G	G	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr3:58552410G>A	ENST00000394481.1	-	5	898	c.340C>T	c.(340-342)Cca>Tca	p.P114S	FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000360997.2_Missense_Mutation_p.P114S|FAM107A_ENST00000474531.1_Missense_Mutation_p.P145S|FAM107A_ENST00000447756.2_Missense_Mutation_p.P142S	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	114					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCCTTCTCTGGTGGTTTTTCC	0.537																																						ENST00000394481.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(340-342)Cca>Tca		family with sequence similarity 107, member A							74.0	75.0	75.0					3																	58552410		2203	4300	6503	SO:0001583	missense	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58552410G>A	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.340C>T	3.37:g.58552410G>A	ENSP00000377991:p.Pro114Ser					FAM107A_ENST00000474531.1_Missense_Mutation_p.P145S|FAM107A_ENST00000447756.2_Missense_Mutation_p.P142S|FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000360997.2_Missense_Mutation_p.P114S	p.P114S	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	5	898	-			114					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	c.340C>T	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098614	0.20552	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000474531;ENST00000447756	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.06	4.13	0.48395	.	0.571544	0.19151	N	0.121451	T	0.34978	0.0916	L	0.44542	1.39	0.38369	D	0.94483	P;B;B	0.35033	0.481;0.245;0.126	B;B;B	0.36244	0.22;0.138;0.096	T	0.15752	-1.0426	10	0.11182	T	0.66	-26.1997	15.1263	0.72486	0.0:0.0:0.8586:0.1414	.	142;145;114	B7ZAY5;B3KNQ4;O95990	.;.;F107A_HUMAN	S	114;114;145;142	ENSP00000354270:P114S;ENSP00000377991:P114S;ENSP00000419124:P145S;ENSP00000400858:P142S	ENSP00000354270:P114S	P	-	1	0	FAM107A	58527450	0.968000	0.33430	0.684000	0.30055	0.359000	0.29487	1.836000	0.39191	2.520000	0.84964	0.563000	0.77884	CCA		0.537	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		13	43	0	0	0	1	0	13	43				
ATAD3B	83858	broad.mit.edu	37	1	1421933	1421933	+	Missense_Mutation	SNP	C	C	A			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:1421933C>A	ENST00000308647.7	+	11	1215	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	367						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAAACTCGCCCTGCACTCAGG	0.617																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1099-1101)Ctg>Atg		ATPase family, AAA domain containing 3B							58.0	53.0	55.0					1																	1421933		2191	4293	6484	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421933C>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1099C>A	1.37:g.1421933C>A	ENSP00000311766:p.Leu367Met						p.L367M	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	11	1215	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	367					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1099C>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	1.451	-0.565141	0.03939	.	.	ENSG00000160072	ENST00000360489;ENST00000378737;ENST00000308647	D	0.92858	-3.12	2.07	0.929	0.19449	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.252027	0.39020	N	0.001488	T	0.80864	0.4705	N	0.16656	0.425	0.80722	D	1	B;B	0.21821	0.05;0.061	B;B	0.19666	0.022;0.026	T	0.71971	-0.4431	10	0.39692	T	0.17	.	3.9497	0.09363	0.3823:0.3792:0.2385:0.0	.	321;367	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	M	262;184;367	ENSP00000311766:L367M	ENSP00000311766:L367M	L	+	1	2	ATAD3B	1411796	0.797000	0.28877	0.685000	0.30070	0.017000	0.09413	1.238000	0.32707	1.139000	0.42245	0.205000	0.17691	CTG		0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		6	36	1	0	6.40141e-05	1	6.67973e-05	6	36				
ARHGEF15	22899	broad.mit.edu	37	17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(385-387)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 15							68.0	70.0	69.0					17																	8215743		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215743C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.386C>T	17.37:g.8215743C>T	ENSP00000355026:p.Thr129Met					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	496	+			129			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.386C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	0.624	-0.819827	0.02776	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.71817	-0.6;-0.6	4.87	2.89	0.33648	.	2.365140	0.01590	N	0.021519	T	0.58018	0.2093	N	0.19112	0.55	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.41787	-0.9489	10	0.28530	T	0.3	0.2461	7.6286	0.28226	0.0:0.8068:0.0:0.1932	.	129;129	D3DTR7;O94989	.;ARHGF_HUMAN	M	129	ENSP00000355026:T129M;ENSP00000412505:T129M	ENSP00000355026:T129M	T	+	2	0	ARHGEF15	8156468	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.784000	0.26816	0.672000	0.31204	-0.263000	0.10527	ACG		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	61	0	0	0	1	0	10	61				
FAM131C	348487	broad.mit.edu	37	1	16385168	16385169	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:16385168_16385169insG	ENST00000375662.4	-	7	789_790	c.606_607insC	c.(604-609)ccctcafs	p.S203fs	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	203										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGTGAGGGGCCGCTGG	0.653																																						ENST00000375662.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(604-609)cccacafs		family with sequence similarity 131, member C																																				SO:0001589	frameshift_variant	348487							g.chr1:16385168_16385169insG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.607dupC	1.37:g.16385172_16385172dupG	ENSP00000364814:p.Ser203fs					FAM131C_ENST00000494078.1_5'UTR	p.T203fs	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	7	789_790	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	203					Q5T5Q5|Q8N3X3|Q8N9P9	Frame_Shift_Ins	INS	ENST00000375662.4	37	c.606_607insC	CCDS41270.1																																																																																				0.653	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		2	4						2	4	---	---	---	---
SULT1E1	6783	broad.mit.edu	37	4	70713495	70713496	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr4:70713495_70713496delCA	ENST00000226444.3	-	6	623_624	c.511_512delTG	c.(511-513)tggfs	p.W171fs		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	ATGTTTATACCAGGAACCATAA	0.366																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(511-513)gfs		sulfotransferase family 1E, estrogen-preferring, member 1																																				SO:0001589	frameshift_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70713495_70713496delCA	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.511_512delTG	4.37:g.70713495_70713496delCA	ENSP00000226444:p.Trp171fs						p.W171fs	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			6	623_624	-			171					Q8N6X5	Frame_Shift_Del	DEL	ENST00000226444.3	37	c.511_512delTG	CCDS3531.1																																																																																				0.366	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		8	111						8	111	---	---	---	---
JMJD8	339123	broad.mit.edu	37	16	733880	733880	+	Frame_Shift_Del	DEL	T	T	-	rs541598443		TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr16:733880delT	ENST00000293882.4	-	3	415	c.416delA	c.(415-417)cagfs	p.Q139fs	JMJD8_ENST00000454700.1_Frame_Shift_Del_p.Q109fs|JMJD8_ENST00000609261.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000562111.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000412368.2_Frame_Shift_Del_p.Q90fs|JMJD8_ENST00000562824.1_Frame_Shift_Del_p.Q39fs			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	139						extracellular vesicular exosome (GO:0070062)				breast(1)	1						CGTGAGTCCCTGCAGGATGAC	0.741																																						ENST00000293882.4																			0				breast(1)	1						c.(415-417)cgfs		jumonji domain containing 8							8.0	11.0	10.0					16																	733880		1944	4079	6023	SO:0001589	frameshift_variant	339123							g.chr16:733880delT		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.416delA	16.37:g.733880delT	ENSP00000293882:p.Gln139fs					JMJD8_ENST00000562824.1_Frame_Shift_Del_p.Q39fs|JMJD8_ENST00000562111.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000454700.1_Frame_Shift_Del_p.Q109fs|JMJD8_ENST00000412368.2_Frame_Shift_Del_p.Q90fs	p.Q139fs			Q96S16	JMJD8_HUMAN			3	415	-			139					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Frame_Shift_Del	DEL	ENST00000293882.4	37	c.416delA																																																																																					0.741	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		2	4						2	4	---	---	---	---
