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 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 uc002rcl.1 - 0 1253 c.1229G>A c.(1228-1230)tGt>tAt p.C410Y RAD51AP2_uc010exn.1_Missense_Mutation_p.C401Y NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA. 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 1 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 uc002zwc.1 - 3 2082 c.1306T>C c.(1306-1308)Ttt>Ctt p.F436L abParts_uc021wml.1_Splice_Site|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.F436L NM_080764 NP_542942 Q86YH2 Z280B_HUMAN Homo sapiens zinc finger protein 280B (ZNF280B), mRNA. 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 1 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 uc011khy.2 - 9 1399 c.1376G>T c.(1375-1377)tGt>tTt p.C459F HEPACAM2_uc003uml.3_Missense_Mutation_p.C424F|HEPACAM2_uc010lff.3_Missense_Mutation_p.V416L|HEPACAM2_uc003umm.3_Missense_Mutation_p.C436F NM_198151 NP_937794 A8MVW5 HECA2_HUMAN Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA. 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 0 0 1 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 uc001pdj.4 + 1 3529 c.3512A>G c.(3511-3513)cAg>cGg p.Q1171R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 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 1 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 uc002axt.2 - 8 1693 c.1538C>T c.(1537-1539)cCc>cTc p.P513L CYP11A1_uc002axs.2_Missense_Mutation_p.P355L|CYP11A1_uc010bjm.1_Missense_Mutation_p.P355L|CYP11A1_uc010bjn.1_Non-coding_Transcript NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 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 1 0 0