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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 8 178 0 0 0.000274275 0 0 HAUS7 55559 broad.mit.edu 37 X 152734614 152734614 + Missense_Mutation SNP T T C TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chrX:152734614T>C ENST00000370219.3 - 2 801 c.244A>G c.(244-246)Atg>Gtg p.M82V TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.M72V|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.M82V|HAUS7_ENST00000370211.4_Missense_Mutation_p.M72V NM_017518.6 NP_059988.3 Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 82 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 CGGGTACACATCCACTCTAGG 0.552000 41 77 0 0 0.000781405 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 8 175 0 0 0.000157383 0 0 ZNF777 27153 broad.mit.edu 37 7 149129472 149129472 + Missense_Mutation SNP C C G TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr7:149129472C>G ENST00000247930.4 - 6 2214 c.1891G>C c.(1891-1893)Ggt>Cgt p.G631R NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 631 Poly-Gly. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TTAGGGCCACCGCCGCCGCTA 0.667000 32 106 0 0 0.000491102 0 0 IRS1 3667 broad.mit.edu 37 2 227663266 227663266 + Silent SNP C C A TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr2:227663266C>A ENST00000305123.4 - 1 1209 c.189G>T c.(187-189)tcG>tcT p.S63S NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 63 Mediates interaction with PHIP (By similarity).|PH. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CAAGGGGGATCGAGCGTTTGG 0.637000 21 148 3.62473e-10 1.61136e-08 0.00188189 1 0 OC90 729330 broad.mit.edu 37 8 133053841 133053841 + Missense_Mutation SNP C C T TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr8:133053841C>T ENST00000262283.5 - 8 962 c.863G>A c.(862-864)cGa>cAa p.R288Q OC90_ENST00000254627.3_Missense_Mutation_p.R92Q|OC90_ENST00000603859.1_Missense_Mutation_p.R92Q|OC90_ENST00000443356.2_Missense_Mutation_p.R92Q Q02509 OC90_HUMAN otoconin 90 92 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TTCAAAGTCTCGGGGGCAGAG 0.527000 7 13 0 0 0.000157383 0 0 COL5A3 50509 broad.mit.edu 37 19 10116500 10116500 + Missense_Mutation SNP G G A TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr19:10116500G>A ENST00000264828.3 - 3 494 c.409C>T c.(409-411)Ccc>Tcc p.P137S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 137 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCTGCTGGGGGAGGGGGCGG 0.657000 7 9 0 0 8.12818e-05 0 0 AHDC1 27245 broad.mit.edu 37 1 27877329 27877331 + In_Frame_Del DEL GGT GGT - TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr1:27877329_27877331delGGT ENST00000374011.2 - 6 2264_2266 c.1296_1298delACC c.(1294-1299)ccg>cc p.PP436del AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_In_Frame_Del_p.PP436del NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 436 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TGGAGGAGGCGGTGGTGGTGGGG 0.714 2 4 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877716 52877717 + Frame_Shift_Ins INS - - T rs77187934 TCGA-ET-A39R-01A-11D-A19J-08 TCGA-ET-A39R-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc29bed0-8ced-477b-8b69-3db24426a0b9 ec696761-1a5e-4925-b59b-e3e9d42edc7d g.chr19:52877716_52877717insT ENST00000597976.1 + 3 324_325 c.304_305insT c.(304-306)tttfs p.F102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AGGCCCCATAAttttttttttt 0.475 3 6 --- --- --- ---