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 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 3 35 0 0 6.4e-05 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698454 17698454 + Missense_Mutation SNP C C T TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr2:17698454C>T ENST00000399080.2 - 1 1252 c.1229G>A c.(1228-1230)tGt>tAt p.C410Y NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 410 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TATAATCCAACAATTTCCTCT 0.313000 13 47 0 0 0.00136819 0 0 FAT3 120114 broad.mit.edu 37 11 92258019 92258019 + Missense_Mutation SNP A A G TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr11:92258019A>G ENST00000298047.6 + 2 3529 c.3512A>G c.(3511-3513)cAg>cGg p.Q1171R FAT3_ENST00000409404.2_Missense_Mutation_p.Q1171R|FAT3_ENST00000541502.1_Missense_Mutation_p.Q1171R|FAT3_ENST00000525166.1_Missense_Mutation_p.Q1021R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1171 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCAGATCCAGGCTGAAGAT 0.403000 TCGA Ovarian(4;0.039) 3 43 0 0 6.4e-05 0 0 CYP11A1 1583 broad.mit.edu 37 15 74630341 74630341 + Missense_Mutation SNP G G A TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr15:74630341G>A ENST00000358632.4 - 9 1759 c.1064C>T c.(1063-1065)cCc>cTc p.P355L CYP11A1_ENST00000268053.6_Missense_Mutation_p.P513L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.P355L NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 513 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTGGTTAAAGGGCCAGAAGGT 0.552000 16 40 0 0 0.000566183 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 5 18 0 0 0.000157383 0 0 ZNF280B 140883 broad.mit.edu 37 22 22842418 22842418 + Missense_Mutation SNP A A G TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr22:22842418A>G ENST00000360412.2 - 4 2081 c.1306T>C c.(1306-1308)Ttt>Ctt p.F436L ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTGAGACAAAAGGGACAAAGC 0.428000 3 114 0 0 6.4e-05 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 20 0 0 6.4e-05 0 0 SHFM1 7979 broad.mit.edu 37 7 96324177 96324177 + Missense_Mutation SNP C C G TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr7:96324177C>G ENST00000248566.2 - 2 230 c.103G>C c.(103-105)Gat>Cat p.D35H SHFM1_ENST00000444799.1_Missense_Mutation_p.D35H|SHFM1_ENST00000413065.1_Missense_Mutation_p.D35H|SHFM1_ENST00000417009.1_Missense_Mutation_p.D35H NM_006304.1 NP_006295.1 P60896 DSS1_HUMAN split hand/foot malformation (ectrodactyly) type 1 35 Asp/Glu-rich (highly acidic). proteolysis proteasome complex peptidase activity|protein binding breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) ACATGTGCATCTTCATCTTCA 0.343000 Homologous recombination 3 72 0 0 0.000602214 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 35 0 0 0.000602214 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92821645 92821645 + Missense_Mutation SNP C C A TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr7:92821645C>A ENST00000394468.2 - 9 1384 c.1307G>T c.(1306-1308)tGt>tTt p.C436F HEPACAM2_ENST00000453812.2_Missense_Mutation_p.C459F|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V416L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.C424F NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 436 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CCCCGATACACAATCAGAGGC 0.398000 22 73 1.36565e-18 1.08068e-16 0.00278032 1 0 AQP2 359 broad.mit.edu 37 12 50344816 50344816 + Missense_Mutation SNP A A C rs104894331 TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr12:50344816A>C ENST00000199280.3 + 1 288 c.203A>C c.(202-204)aAc>aCc p.N68T NM_000486.5 NP_000477.1 P41181 AQP2_HUMAN aquaporin 2 (collecting duct) 68 N -> S (in ANDI). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity p.N68T(2) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 GCCCACATCAACCCTGCCGTG 0.662000 5 27 0 0 0.00185496 0 0 TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 7 402 --- --- --- --- DPY19L2P1 0 broad.mit.edu 37 7 35145789 35145793 + RNA DEL CTAAA CTAAA - rs76141590 TCGA-DJ-A2PX-01A-11D-A18F-08 TCGA-DJ-A2PX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee64b7c9-39cc-43df-a923-b6d53a164bc0 a3aa542a-2487-41cb-84ce-7bfe128b9948 g.chr7:35145789_35145793delCTAAA ENST00000436258.1 - 0 1553_1557 GTGACTATCTCTAAACTACTTAGGA 0.190 2 4 --- --- --- ---