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 HSD17B12 51144 broad.mit.edu 37 11 43876382 43876382 + Silent SNP C C A TCGA-CH-5743-01A-21D-1576-08 TCGA-CH-5743-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx fac8ffea-e7f8-41d3-889f-dd24cf5dcd64 d6bb9600-d340-45e4-aac0-08db7c5ea4e8 g.chr11:43876382C>A ENST00000278353.4 + 10 921 c.802C>A c.(802-804)Cga>Aga p.R268R RP11-613D13.5_ENST00000530450.1_RNA NM_016142.2 NP_057226.1 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 268 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity endometrium(2)|large_intestine(4)|lung(4) 10 CCTGCAATCCCGAACCAATGG 0.438000 3 111 0.115264 0.139963 0.115264 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059182 79059182 + Missense_Mutation SNP T T C rs143974743 TCGA-CH-5743-01A-21D-1576-08 TCGA-CH-5743-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx fac8ffea-e7f8-41d3-889f-dd24cf5dcd64 d6bb9600-d340-45e4-aac0-08db7c5ea4e8 g.chr15:79059182T>C ENST00000388820.4 - 19 3281 c.3071A>G c.(3070-3072)cAc>cGc p.H1024R ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1024 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.H1024R(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GGCCAGGTGGTGCGGGATGAA 0.682000 3 32 0 0 0.115264 0 0 FPGT-TNNI3K 0 broad.mit.edu 37 1 74808773 74808773 + Missense_Mutation SNP G G A TCGA-CH-5743-01A-21D-1576-08 TCGA-CH-5743-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx fac8ffea-e7f8-41d3-889f-dd24cf5dcd64 d6bb9600-d340-45e4-aac0-08db7c5ea4e8 g.chr1:74808773G>A ENST00000370895.1 + 11 1180 c.1145G>A c.(1144-1146)gGc>gAc p.G382D TNNI3K_ENST00000326637.3_Missense_Mutation_p.G281D|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.G382D|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.G382D|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G382D Q59H18 TNI3K_HUMAN 281 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding p.G281D(1) TGCTACAATGGCAAATTTGAA 0.348000 4 94 0 0 0.150653 0 0 FANCM 57697 broad.mit.edu 37 14 45605353 45605353 + Missense_Mutation SNP C C A TCGA-CH-5743-01A-21D-1576-08 TCGA-CH-5743-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx fac8ffea-e7f8-41d3-889f-dd24cf5dcd64 d6bb9600-d340-45e4-aac0-08db7c5ea4e8 g.chr14:45605353C>A ENST00000267430.5 + 1 204 c.119C>A c.(118-120)gCg>gAg p.A40E FANCM_ENST00000542564.2_Missense_Mutation_p.A40E|FANCM_ENST00000556036.1_Missense_Mutation_p.A40E NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 40 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding p.A40E(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AGCTCCAAGGCGCCTTTGCCA 0.607000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 83 0.150653 0.170741 0.150653 1 0 CTD-2503O16.4 0 broad.mit.edu 37 5 74285946 74285946 + RNA DEL T T - rs138935859 TCGA-CH-5743-01A-21D-1576-08 TCGA-CH-5743-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx fac8ffea-e7f8-41d3-889f-dd24cf5dcd64 d6bb9600-d340-45e4-aac0-08db7c5ea4e8 g.chr5:74285946delT ENST00000505200.1 - 0 212 aattgctttcttttttttttt 0.383 4 4 --- --- --- --- GOLGA2B 0 broad.mit.edu 37 12 100562920 100562921 + RNA INS - - T rs58822438 TCGA-CH-5743-01A-21D-1576-08 TCGA-CH-5743-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx fac8ffea-e7f8-41d3-889f-dd24cf5dcd64 d6bb9600-d340-45e4-aac0-08db7c5ea4e8 g.chr12:100562920_100562921insT ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GGTCTCATTTGTTTTttttttt 0.406 3 4 --- --- --- ---