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 CHCHD6 84303 broad.mit.edu 37 3 126445989 126445989 + Silent SNP C C A TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd4e4ca0-0447-4148-8ee3-323010c60f2b 4c074125-47a4-4533-a8f6-a96d06f5e5b7 g.chr3:126445989C>A ENST00000508789.1 + 2 228 c.156C>A c.(154-156)acC>acA p.T52T CHCHD6_ENST00000290913.3_Silent_p.T52T Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 6 52 endometrium(2)|large_intestine(3)|lung(3) 8 CATCTTCTACCTTTGGCCTTC 0.512 4 129 --- --- --- --- HIST1H2AD 3013 broad.mit.edu 37 6 26199153 26199153 + Missense_Mutation SNP C C A TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd4e4ca0-0447-4148-8ee3-323010c60f2b 4c074125-47a4-4533-a8f6-a96d06f5e5b7 g.chr6:26199153C>A ENST00000341023.1 - 1 318 c.319G>T c.(319-321)Ggt>Tgt p.G107C HIST1H3D_ENST00000377831.5_5'UTR NM_021065.2 NP_066409.1 P20671 H2A1D_HUMAN histone cluster 1, H2ad 107 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 all_hematologic(11;0.196) GGCAGAACACCGCCCTGAGCA 0.522 4 137 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157502129 157502129 + Silent SNP G G A TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd4e4ca0-0447-4148-8ee3-323010c60f2b 4c074125-47a4-4533-a8f6-a96d06f5e5b7 g.chr6:157502129G>A ENST00000346085.5 + 12 3163 c.3162G>A c.(3160-3162)ggG>ggA p.G1054G ARID1B_ENST00000367148.1_Silent_p.G1094G|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000350026.5_Silent_p.G1041G NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1041 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCACTACTGGGGAGAAGATCA 0.552 3 46 --- --- --- --- MKRN1 23608 broad.mit.edu 37 7 140158931 140158931 + Missense_Mutation SNP T T C TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd4e4ca0-0447-4148-8ee3-323010c60f2b 4c074125-47a4-4533-a8f6-a96d06f5e5b7 g.chr7:140158931T>C ENST00000255977.2 - 4 871 c.647A>G c.(646-648)tAt>tGt p.Y216C MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C|MKRN1_ENST00000480552.1_Intron NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 216 ligase activity|nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) CACTGCAGCATAGGGGCACAG 0.562 4 146 --- --- --- --- CTSL 1514 broad.mit.edu 37 9 90343270 90343270 + Missense_Mutation SNP G G T TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd4e4ca0-0447-4148-8ee3-323010c60f2b 4c074125-47a4-4533-a8f6-a96d06f5e5b7 g.chr9:90343270G>T ENST00000343150.5 + 4 1245 c.355G>T c.(355-357)Gat>Tat p.D119Y CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y cathepsin L CAGATCTGTGGATTGGAGAGA 0.493 6 69 --- --- --- --- SYT10 341359 broad.mit.edu 37 12 33529773 33529773 + Missense_Mutation SNP T T A TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd4e4ca0-0447-4148-8ee3-323010c60f2b 4c074125-47a4-4533-a8f6-a96d06f5e5b7 g.chr12:33529773T>A ENST00000228567.3 - 7 1860 c.1564A>T c.(1564-1566)Aca>Tca p.T522S SYT10_ENST00000535526.1_Missense_Mutation_p.T341S NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 522 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CATTATGGTGTGGAAGGTGGT 0.408 3 40 --- --- --- ---