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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 54 0 0 0.115264 0 0 HEATR1 55127 broad.mit.edu 37 1 236734652 236734652 + Splice_Site SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr1:236734652G>A ENST00000366582.3 - 28 4061 c.3948_splice c.e28+1 p.P1316_splice HEATR1_ENST00000366581.2_Splice_Site_p.P1235_splice NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1316 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACGCTTACCGGAAATATTCC 0.403000 3 53 0 0 0.115264 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 3 77 0 0 0.009096 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 3 0 0 0.009096 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 38 0 0 0.021553 0 0 PCCA 5095 broad.mit.edu 37 13 100807310 100807310 + Silent SNP C C G TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr13:100807310C>G ENST00000376285.1 + 5 416 c.378C>G c.(376-378)gcC>gcG p.A126A PCCA_ENST00000376286.4_Silent_p.A100A|PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376279.3_Silent_p.A126A NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 126 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) ACATGGATGCCATCATGGAAG 0.458000 7 113 0 0 0.029380 0 0 SP4 6671 broad.mit.edu 37 7 21469100 21469100 + Missense_Mutation SNP C C T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr7:21469100C>T ENST00000222584.3 + 3 535 c.317C>T c.(316-318)gCc>gTc p.A106V NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 106 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding p.A106V(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 CAACTTGTTGCCTCCACTCCT 0.438000 20 32 0 0 0.076483 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 44 0 0 0.014758 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 80 0 0 0.021553 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864105 102864105 + Missense_Mutation SNP T T C TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chrX:102864105T>C ENST00000372628.1 + 3 471 c.113T>C c.(112-114)gTg>gCg p.V38A TCEAL3_ENST00000243286.3_Missense_Mutation_p.V38A|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.V38A Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 38 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 aagccagacgtggaggggaag 0.498000 3 43 0 0 0.115264 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097680 121097680 + Missense_Mutation SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr3:121097680G>A ENST00000273666.6 + 22 2637 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q STXBP5L_ENST00000472879.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R789Q NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 789 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CCACCATTTCGAAAGGCCCAG 0.398000 17 31 0 0 0.062417 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 4 89 0 0 0.021553 0 0 AC093838.4 0 broad.mit.edu 37 2 132258539 132258539 + RNA SNP C C T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr2:132258539C>T ENST00000438378.2 + 0 723 NR_026922.1 CTGCAGGGTCCTGTGAAGGCG 0.612000 7 6 0 0 0.047766 0 0 ANKAR 150709 broad.mit.edu 37 2 190595298 190595298 + Missense_Mutation SNP C C G TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr2:190595298C>G ENST00000520309.1 + 16 3359 c.3271C>G c.(3271-3273)Cta>Gta p.L1091V ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.L1020V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L1091V NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1091 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TATCCAACTACTAAGAAATCA 0.338000 14 27 0 0 0.038395 0 0 AC093642.5 0 broad.mit.edu 37 2 243061143 243061143 + RNA SNP A A G rs117509304 by1000genomes TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr2:243061143A>G ENST00000456398.1 + 0 491 CTTGGGAGAAACCTTTAATCG 0.358000 4 44 0 0 0.014758 0 0 C10orf53 282966 broad.mit.edu 37 10 50902594 50902594 + Silent SNP T T C TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr10:50902594T>C ENST00000374111.3 + 3 240 c.228T>C c.(226-228)ggT>ggC p.G76G C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000374113.3_3'UTR NM_001042427.1 NP_001035892.1 Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 76 endometrium(1)|lung(6) 7 all_neural(218;0.107) GAGGCGATGGTAAACTAGACC 0.458000 4 45 0 0 0.009096 0 0 IGF1R 3480 broad.mit.edu 37 15 99440012 99440012 + Missense_Mutation SNP C C A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr15:99440012C>A ENST00000268035.6 + 4 1591 c.980C>A c.(979-981)cCt>cAt p.P327H IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.P327H NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 327 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TGTGAAGGTCCTTGCCCGAAG 0.393000 3 40 0.115264 0.125743 0.115264 1 0 IFI44 10561 broad.mit.edu 37 1 79116042 79116042 + Silent SNP T T A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr1:79116042T>A ENST00000370747.4 + 2 247 c.162T>A c.(160-162)atT>atA p.I54I IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 54 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 TAACAGTGATTTATAGTGAAG 0.393000 4 153 0 0 0.014758 0 0 SPANXN1 494118 broad.mit.edu 37 X 144329165 144329165 + Missense_Mutation SNP A A G TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chrX:144329165A>G ENST00000370493.3 + 1 818 c.59A>G c.(58-60)aAc>aGc p.N20S NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 20 endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TGTGAATCCAACAATGAAAAT 0.448000 4 188 0 0 0.009096 0 0 OR2H2 7932 broad.mit.edu 37 6 29556434 29556434 + Missense_Mutation SNP C C T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr6:29556434C>T ENST00000383640.2 + 1 752 c.713C>T c.(712-714)aCc>aTc p.T238I GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 238 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 GCTTTTGGGACCTGCTCCTCC 0.532000 10 68 0 0 0.069234 0 0 FGF7 2252 broad.mit.edu 37 15 49776583 49776583 + Nonsense_Mutation SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr15:49776583G>A ENST00000267843.4 + 4 1078 c.467G>A c.(466-468)tGg>tAg p.W156* FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 156 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) TCAGCTAAATGGACACACAAC 0.348000 3 66 0 0 0.115264 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 33 51 0 0 0.059317 0 0 ANKRD20A11P 0 broad.mit.edu 37 21 15352030 15352030 + RNA SNP G G T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr21:15352030G>T ENST00000344693.5 - 0 728 NR_027270.1 TACCTGTGCTGCTTGTCCAGG 0.716000 4 12 2.56e-06 2.88e-06 0.009096 1 0 BTBD17 388419 broad.mit.edu 37 17 72352829 72352829 + Silent SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr17:72352829G>A ENST00000375366.3 - 3 1530 c.1404C>T c.(1402-1404)ccC>ccT p.P468P NM_001080466.1 NP_001073935.1 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 468 extracellular region endometrium(1)|kidney(1)|lung(4) 6 TGTGGTATACGGGCTTGACGA 0.652000 3 38 0 0 0.115264 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493711 65493711 + Frame_Shift_Del DEL G G - TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr8:65493711delG ENST00000321870.1 + 1 898 c.364delG c.(364-366)ggfs p.G122fs RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 122 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 CCTGCCGGCCGGGGCCGCCCT 0.751 2 4 --- --- --- --- CTD-2509G16.5 0 broad.mit.edu 37 14 65748001 65748002 + RNA INS - - TT rs1760975 TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr14:65748001_65748002insTT ENST00000553754.1 - 0 300 TTCTTTCtttcttttttttttt 0.485 4 3 --- --- --- --- GLG1 2734 broad.mit.edu 37 16 74640592 74640592 + Frame_Shift_Del DEL T T - TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr16:74640592delT ENST00000422840.2 - 1 400 c.401delA c.(400-402)acfs p.N134fs GLG1_ENST00000205061.5_Frame_Shift_Del_p.N134fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.N134fs NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 134 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CACCGCCAGGTTGTTGCTCCA 0.706 24 49 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 11 37 --- --- --- ---