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 CEP164 22897 broad.mit.edu 37 11 117280555 117280555 + Missense_Mutation SNP T T G TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr11:117280555T>G ENST00000278935.3 + 30 4117 c.3970T>G c.(3970-3972)Tta>Gta p.L1324V CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1324 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GTTCTCAGCCTTATCATCTGC 0.657000 12 100 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079903 70079903 + Missense_Mutation SNP T T C rs147658117 TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr4:70079903T>C ENST00000446444.1 - 1 546 c.538A>G c.(538-540)Att>Gtt p.I180V RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 180 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TGCCTTTCAATTGTGTAGCCA 0.428000 4 90 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 42 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 4 179 0.184627 0.184627 1 1 0 GBP1 2633 broad.mit.edu 37 1 89528883 89528883 + Missense_Mutation SNP C C T TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr1:89528883C>T ENST00000370473.4 - 2 254 c.35G>A c.(34-36)tGc>tAc p.C12Y NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 12 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CTCAATGAGGCACATTGGGCC 0.483000 43 31 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 6 95 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28997654 28997654 + Missense_Mutation SNP T T C TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr8:28997654T>C ENST00000524189.1 - 21 2577 c.2539A>G c.(2539-2541)Agg>Ggg p.R847G CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 847 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CCTGCGATCCTCTCCCCAACA 0.542000 6 10 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 17 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 79 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131639196 131639196 + Silent SNP A A G TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr10:131639196A>G ENST00000368648.3 - 14 1518 c.1446T>C c.(1444-1446)aaT>aaC p.N482N EBF3_ENST00000355311.5_Silent_p.N491N NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 491 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TTCCATATCCATTCATGCTAG 0.562000 13 79 0 0 1 0 0 HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr7:27222461_27222462insT ENST00000006015.3 - 2 966_967 c.895_896insA c.(895-897)taafs p.*299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GTCTCTGTTAATTTTTTTTTCC 0.446 T NUP98 CML 7 117 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 5 --- --- --- --- IGLV3-9 28804 broad.mit.edu 37 22 23161844 23161845 + RNA DEL CC CC - rs72002333 TCGA-WB-A81F-01A-11D-A35I-08 TCGA-WB-A81F-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 357a904e-2c97-4b2d-a3d0-72c749f4d058 76d9f903-9628-44bf-ace7-218726e479e6 g.chr22:23161844_23161845delCC ENST00000390316.2 + 0 161 TGCTCATGGTCCCCTGAGGACA 0.554 2 4 --- --- --- ---