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 COL11A1 1301 broad.mit.edu 37 1 103461591 103461591 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:103461591G>A ENST00000358392.2 - 27 2602 c.2285C>T c.(2284-2286)cCt>cTt p.P762L COL11A1_ENST00000370096.3_Missense_Mutation_p.P750L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P634L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P711L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 750 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGTGGACCAGGGGGACCCTG 0.358000 23 87 0 0 0.667858 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375146 8375146 + Missense_Mutation SNP G G C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr12:8375146G>C ENST00000538603.1 - 7 1225 c.667C>G c.(667-669)Ctc>Gtc p.L223V FAM90A1_ENST00000307435.6_Missense_Mutation_p.L223V NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 223 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) ACCACGAGGAGAGGCTCGGGG 0.647000 33 57 0 0 0.804634 0 0 LTBP1 4052 broad.mit.edu 37 2 33623487 33623487 + Missense_Mutation SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:33623487T>C ENST00000404816.2 + 34 5394 c.5041T>C c.(5041-5043)Tgc>Cgc p.C1681R LTBP1_ENST00000354476.3_Missense_Mutation_p.C1682R|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1356R|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1302R|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1313R|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1300R|LTBP1_ENST00000407925.1_Missense_Mutation_p.C1355R|LTBP1_ENST00000272273.5_Missense_Mutation_p.C579R Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1681 EGF-like 18; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GAATGCCAAGTGCATTAACAC 0.438000 40 50 0 0 0.847076 0 0 FAM104B 90736 broad.mit.edu 37 X 55172659 55172659 + Missense_Mutation SNP A A G rs5018687 by1000genomes TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chrX:55172659A>G ENST00000425133.2 - 3 247 c.209T>C c.(208-210)aTt>aCt p.I70T FAM104B_ENST00000358460.4_Missense_Mutation_p.I69T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 69 p.I70T(2) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 TTCAGTAACAATCTGGTTTAA 0.458000 3 81 0 0 0.217242 0 0 DPY19L4 286148 broad.mit.edu 37 8 95802031 95802031 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr8:95802031G>A ENST00000414645.2 + 19 2164 c.2065G>A c.(2065-2067)Gag>Aag p.E689K NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 689 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ATTTTGTCATGAGGTCAAAAT 0.303000 98 188 0 0 0.870114 0 0 BOC 91653 broad.mit.edu 37 3 112993314 112993314 + Missense_Mutation SNP A A G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:112993314A>G ENST00000495514.1 + 9 2031 c.1327A>G c.(1327-1329)Agg>Ggg p.R443G BOC_ENST00000355385.3_Missense_Mutation_p.R443G|BOC_ENST00000273395.4_Missense_Mutation_p.R443G Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 443 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GCAGATGCTGAGGGGGCAACC 0.652000 36 36 0 0 0.804634 0 0 CDAN1 146059 broad.mit.edu 37 15 43023151 43023151 + Missense_Mutation SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr15:43023151T>C ENST00000356231.3 - 13 2002 c.1979A>G c.(1978-1980)cAg>cGg p.Q660R NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 660 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) AATGGAGTCCTGAAGCTCACC 0.607000 4 132 0 0 0.150653 0 0 POLR2L 5441 broad.mit.edu 37 11 840466 840466 + Missense_Mutation SNP G G T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr11:840466G>T ENST00000322028.4 - 2 146 c.110C>A c.(109-111)gCc>gAc p.A37D NM_021128.4 NP_066951.1 P62875 RPAB5_HUMAN polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa 37 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding lung(1) 1 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGGCCCAGGGCATCCAGCGC 0.622000 41 75 7.53189e-24 8.60788e-24 0.834066 1 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr17:7578550G>T ENST00000420246.2 - 5 512 c.380C>A c.(379-381)tCc>tAc p.S127Y TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000269305.4_Missense_Mutation_p.S127Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 127 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGGGCAGGGGAGTACTGTAG 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 29 1.01871e-10 1.10504e-10 0.575678 1 0 AFF4 27125 broad.mit.edu 37 5 132269985 132269985 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr5:132269985G>A ENST00000265343.5 - 3 1151 c.772C>T c.(772-774)Cgg>Tgg p.R258W AFF4_ENST00000378595.3_Missense_Mutation_p.R258W|AFF4_ENST00000491831.1_5'UTR NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 258 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity p.R258W(1) SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCATGGGCCGCACATAGGCA 0.517000 4 95 0 0 0.150653 0 0 NKTR 4820 broad.mit.edu 37 3 42676726 42676726 + Missense_Mutation SNP C C G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:42676726C>G ENST00000232978.8 + 12 1219 c.1031C>G c.(1030-1032)cCt>cGt p.P344R RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 344 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TATCACACACCTCCAAGATCA 0.398000 31 9 0 0 0.760397 0 0 AJUBA 84962 broad.mit.edu 37 14 23445688 23445688 + Missense_Mutation SNP A A T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr14:23445688A>T ENST00000262713.2 - 4 1591 c.1216T>A c.(1216-1218)Tgt>Agt p.C406S AJUBA_ENST00000397388.3_5'UTR|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.C406S NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 406 LIM zinc-binding 2. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding AAGTGACCACAGACACAGCAT 0.453000 114 61 0 0 0.870114 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 3 24 0 0 0.150653 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T T G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr20:62120282T>G ENST00000217182.3 - 7 1418 c.1253A>C c.(1252-1254)tAc>tCc p.Y418S EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity p.Y418S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667000 10 31 0 0 0.608945 0 0 NT5E 4907 broad.mit.edu 37 6 86197162 86197162 + Silent SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr6:86197162C>T ENST00000257770.3 + 5 1108 c.1059C>T c.(1057-1059)tgC>tgT p.C353C NT5E_ENST00000369651.3_Silent_p.C353C NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 353 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CTCAATCATGCCGCTTTAGAG 0.413000 5 185 0 0 0.248553 0 0 CDK11A 728642 broad.mit.edu 37 1 1650803 1650803 + Missense_Mutation SNP C C G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:1650803C>G ENST00000356200.3 - 3 451 c.217G>C c.(217-219)Gaa>Caa p.E73Q CDK11A_ENST00000378633.1_Missense_Mutation_p.E107Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.E107Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.E73Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.E107Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.E107Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.E107Q cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 CTACATTTTTCTTTTCTCTTT 0.388000 38 128 0 0 0.870114 0 0 PLK4 10733 broad.mit.edu 37 4 128812740 128812740 + Missense_Mutation SNP A A G rs11552117 TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr4:128812740A>G ENST00000270861.5 + 9 2216 c.1942A>G c.(1942-1944)Att>Gtt p.I648V PLK4_ENST00000513090.1_Missense_Mutation_p.I616V|PLK4_ENST00000514379.1_Missense_Mutation_p.I607V|PLK4_ENST00000515069.1_Missense_Mutation_p.I570V|PLK4_ENST00000507249.1_Missense_Mutation_p.I587V NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 648 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GCAGATCACTATTTATTATCC 0.338000 53 97 0 0 0.870114 0 0 SP8 221833 broad.mit.edu 37 7 20825289 20825289 + Silent SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr7:20825289G>A ENST00000361443.4 - 3 330 c.93C>T c.(91-93)caC>caT p.H31H SP8_ENST00000418710.2_Silent_p.H49H NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 31 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GTTTCCAGGGGTGGAAGCCTT 0.617000 21 42 0 0 0.608945 0 0 AMER1 139285 broad.mit.edu 37 X 63412939 63412939 + Silent SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chrX:63412939T>C ENST00000330258.3 - 2 500 c.228A>G c.(226-228)ggA>ggG p.G76G AMER1_ENST00000403336.1_Silent_p.G76G|AMER1_ENST00000374869.3_Silent_p.G76G NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTTTGCTCCGTCCCCCTCCAA 0.537000 3 74 0 0 0.184627 0 0 ISL2 64843 broad.mit.edu 37 15 76633517 76633517 + Missense_Mutation SNP C C G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr15:76633517C>G ENST00000290759.4 + 5 998 c.838C>G c.(838-840)Ccc>Gcc p.P280A RP11-685G9.2_ENST00000559539.1_RNA NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 280 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 GGCGGGCAGTCCCATCCGCCA 0.657000 15 29 0 0 0.520397 0 0 KIF2C 11004 broad.mit.edu 37 1 45206652 45206652 + Silent SNP A A C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:45206652A>C ENST00000372224.4 + 2 251 c.138A>C c.(136-138)gcA>gcC p.A46A KIF2C_ENST00000372218.4_Silent_p.A46A|KIF2C_ENST00000493027.1_3'UTR NM_006845.3 NP_006836.2 Q99661 KIF2C_HUMAN kinesin family member 2C 46 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) TGGAATGGGCAGAAGGAGGTG 0.413000 11 11 0 0 0.457914 0 0 ABCB4 5244 broad.mit.edu 37 7 87051469 87051469 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr7:87051469C>T ENST00000265723.4 - 18 2395 c.2284G>A c.(2284-2286)Gga>Aga p.G762R ABCB4_ENST00000358400.3_Missense_Mutation_p.G762R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G762R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G762R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G762R NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 762 ABC transmembrane type-1 2. G -> E (in ICP). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GAAATAATTCCCAGAAATAAG 0.318000 3 15 0 0 0.115264 0 0 SACS 26278 broad.mit.edu 37 13 23906082 23906082 + Missense_Mutation SNP A A C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr13:23906082A>C ENST00000382298.3 - 10 12521 c.11933T>G c.(11932-11934)cTt>cGt p.L3978R SACS_ENST00000402364.1_Missense_Mutation_p.L3228R|SACS_ENST00000382292.3_Missense_Mutation_p.L3978R NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3978 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTGTTCTTCAAGTATACTGCT 0.398000 23 79 0 0 0.654019 0 0 ROR2 4920 broad.mit.edu 37 9 94519560 94519560 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:94519560G>A ENST00000375708.3 - 3 655 c.457C>T c.(457-459)Cgg>Tgg p.R153W ROR2_ENST00000375715.1_Missense_Mutation_p.R13W|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 153 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCACCCAGCCGCACAAACAGG 0.537000 4 123 0 0 0.150653 0 0 RYR1 6261 broad.mit.edu 37 19 38991629 38991629 + Splice_Site SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr19:38991629C>T ENST00000355481.4 + 47 7744 c.7614_splice c.e47+1 p.T2538_splice RYR1_ENST00000360985.3_Splice_Site_p.T2538_splice|RYR1_ENST00000359596.3_Splice_Site_p.T2538_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2538 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCGCTGGACACGGTGAGCAAC 0.612000 8 14 0 0 0.361761 0 0 PREX1 57580 broad.mit.edu 37 20 47244457 47244457 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr20:47244457C>T ENST00000371941.3 - 38 4833 c.4811G>A c.(4810-4812)cGg>cAg p.R1604Q PREX1_ENST00000396220.1_3'UTR NM_020820.3 NP_065871.2 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1604 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCCGTGGCTCCGTGCCAAGAT 0.692000 11 30 0 0 0.411799 0 0 CUBN 8029 broad.mit.edu 37 10 16942822 16942822 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr10:16942822G>A ENST00000377833.4 - 53 8277 c.8212C>T c.(8212-8214)Ccc>Tcc p.P2738S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2738 CUB 20. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTGTATGGGGTTCAATATCA 0.433000 3 29 0 0 0.115264 0 0 NKTR 4820 broad.mit.edu 37 3 42680280 42680280 + Missense_Mutation SNP G G T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:42680280G>T ENST00000232978.8 + 13 3272 c.3084G>T c.(3082-3084)gaG>gaT p.E1028D RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1028 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGGAGGAGGAGGAGATTGATG 0.358000 48 22 2.74695e-27 3.19645e-27 0.870114 1 0 IGKV1D-12 28903 broad.mit.edu 37 2 90199155 90199155 + RNA SNP G G T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:90199155G>T ENST00000390276.2 + 0 497 TGAAGATTTTGCAACTTACTA 0.517000 83 32 2.73867e-56 3.30707e-56 0.870114 1 0 MSRB1 51734 broad.mit.edu 37 16 1991308 1991308 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr16:1991308C>T ENST00000361871.3 - 2 323 c.154G>A c.(154-156)Gcc>Acc p.A52T MSRB1_ENST00000399753.2_Missense_Mutation_p.A52T|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000564908.1_Missense_Mutation_p.A52T NM_016332.2 NP_057416.1 Q9NZV6 MSRB1_HUMAN methionine sulfoxide reductase B1 52 protein repair cytoplasm|nucleus peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding L-Methionine(DB00134) ACGCTGTCGGCGTGAATGGTC 0.622000 7 50 0 0 0.248553 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 53 0 0 0.184627 0 0 CYLD 1540 broad.mit.edu 37 16 50816274 50816274 + Missense_Mutation SNP A A T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr16:50816274A>T ENST00000540145.1 + 11 2138 c.1723A>T c.(1723-1725)Act>Tct p.T575S CYLD_ENST00000398568.2_Missense_Mutation_p.T572S|CYLD_ENST00000568704.2_Missense_Mutation_p.T390S|CYLD_ENST00000566206.1_Missense_Mutation_p.T572S|CYLD_ENST00000311559.9_Missense_Mutation_p.T575S|CYLD_ENST00000564326.1_Missense_Mutation_p.T572S|CYLD_ENST00000569418.1_Missense_Mutation_p.T572S|CYLD_ENST00000427738.3_Missense_Mutation_p.T575S Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 575 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AGAAGAAAATACTCCACCAAA 0.303000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 12 21 0 0 0.387290 0 0 SUSD1 64420 broad.mit.edu 37 9 114886703 114886703 + Silent SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:114886703G>A ENST00000374270.3 - 6 892 c.720C>T c.(718-720)ggC>ggT p.G240G SUSD1_ENST00000374263.3_Silent_p.G240G|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Silent_p.G240G NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 240 Sushi 2. integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CTGGAGGGTTGCCACAGTTGA 0.483000 76 39 0 0 0.870114 0 0 ZNF282 8427 broad.mit.edu 37 7 148909533 148909533 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr7:148909533G>A ENST00000262085.3 + 6 1141 c.1036G>A c.(1036-1038)Gac>Aac p.D346N ZNF282_ENST00000479907.1_Missense_Mutation_p.D346N NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 346 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) GGATTTGGCAGACAGAGATAT 0.453000 3 31 0 0 0.115264 0 0 OR1N1 138883 broad.mit.edu 37 9 125288894 125288894 + Nonsense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:125288894G>A ENST00000304880.2 - 1 678 c.679C>T c.(679-681)Cga>Tga p.R227* NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 227 R -> Q (in dbSNP:rs58226717). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R227*(1) breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 CCACGGGTTCGGACCCTCAGG 0.542000 44 31 0 0 0.853193 0 0 CYP27C1 339761 broad.mit.edu 37 2 127958736 127958736 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:127958736C>T ENST00000335247.7 - 3 480 c.350G>A c.(349-351)cGg>cAg p.R117Q CYP27C1_ENST00000409327.1_Missense_Mutation_p.R117Q NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 117 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) GCAGAATTCCCGCCAGGGCTT 0.522000 64 118 0 0 0.870114 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559714 140559714 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr5:140559714C>T ENST00000239444.2 + 1 2344 c.2099C>T c.(2098-2100)tCg>tTg p.S700L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 700 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGTGTCTTCGCTCTTCCTC 0.672000 134 38 0 0 0.870114 0 0 SECISBP2 79048 broad.mit.edu 37 9 91972404 91972404 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:91972404G>A ENST00000375807.3 + 15 2263 c.2192G>A c.(2191-2193)cGc>cAc p.R731H SECISBP2_ENST00000534113.2_Missense_Mutation_p.R663H|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R658H NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 731 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 GCTCTCAACCGCAAAGCTCTG 0.507000 6 205 0 0 0.217242 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866589 106866589 + RNA SNP C C A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr14:106866589C>A ENST00000390618.2 - 0 242 CCTGGCGGATCCAGCTCATCT 0.582000 39 346 5.88917e-42 6.97976e-42 0.870114 1 0 CPS1 1373 broad.mit.edu 37 2 211441130 211441130 + Silent SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:211441130T>C ENST00000233072.5 + 3 493 c.297T>C c.(295-297)ccT>ccC p.P99P CPS1_ENST00000430249.2_Silent_p.P105P NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 99 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGGCCAACCCTATTATTGGGA 0.428000 3 117 0 0 0.115264 0 0 ACOT1 641371 broad.mit.edu 37 14 74004392 74004392 + Silent SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr14:74004392C>T ENST00000311148.4 + 1 575 c.267C>T c.(265-267)ccC>ccT p.P89P HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) CCGAGAAACCCTTGGTGCGGC 0.736000 4 16 0 0 0.150653 0 0 PMVK 10654 broad.mit.edu 37 1 154897618 154897618 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:154897618C>T ENST00000368467.3 - 5 871 c.566G>A c.(565-567)cGc>cAc p.R189H NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 189 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAGTCTGGAGCGGATAAATTC 0.572000 68 116 0 0 0.870114 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273678 139273678 + Silent SNP C C A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr9:139273678C>A ENST00000298532.2 - 21 2969 c.2601G>T c.(2599-2601)gcG>gcT p.A867A NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 867 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CCCGGCTGGACGCCAGTCTTC 0.642000 6 30 8.12818e-05 8.52793e-05 0.248553 1 0 PTPRC 5788 broad.mit.edu 37 1 198711143 198711143 + Missense_Mutation SNP T T C TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:198711143T>C ENST00000367376.2 + 24 2714 c.2543T>C c.(2542-2544)gTg>gCg p.V848A PTPRC_ENST00000442510.2_Missense_Mutation_p.V850A|PTPRC_ENST00000352140.3_Missense_Mutation_p.V800A|PTPRC_ENST00000348564.6_Missense_Mutation_p.V689A|PTPRC_ENST00000594404.1_Missense_Mutation_p.V687A NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 848 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GGTCCCATTGTGGTGCACTGC 0.473000 5 22 0 0 0.217242 0 0 ARMC6 93436 broad.mit.edu 37 19 19162842 19162842 + Missense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr19:19162842C>T ENST00000535612.1 + 5 1123 c.691C>T c.(691-693)Cat>Tat p.H231Y ARMC6_ENST00000392336.3_Missense_Mutation_p.H231Y|ARMC6_ENST00000392335.2_Missense_Mutation_p.H206Y|ARMC6_ENST00000269932.6_Missense_Mutation_p.H206Y|ARMC6_ENST00000546344.1_Missense_Mutation_p.H138Y NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 231 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) TGCCATCACCCATCATGGCCA 0.592000 7 44 0 0 0.278610 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57988994 57988994 + Nonsense_Mutation SNP C C T TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr12:57988994C>T ENST00000354947.5 + 3 374 c.358C>T c.(358-360)Caa>Taa p.Q120* PIP4K2C_ENST00000550465.1_Nonsense_Mutation_p.Q102*|PIP4K2C_ENST00000422156.3_Nonsense_Mutation_p.Q120*|PIP4K2C_ENST00000540759.2_Nonsense_Mutation_p.Q120* Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 120 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) CATTGATGACCAAGATTACTT 0.463000 131 146 0 0 0.870114 0 0 CACNA1E 777 broad.mit.edu 37 1 181767512 181767512 + Missense_Mutation SNP G G A TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr1:181767512G>A ENST00000526775.1 + 46 6463 c.6298G>A c.(6298-6300)Gtc>Atc p.V2100I CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V2162I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2162 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCTCCCACCCGTCCCGCCAAA 0.627000 43 94 0 0 0.864702 0 0 SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 7 117 --- --- --- --- DNAJB11 51726 broad.mit.edu 37 3 186295532 186295534 + In_Frame_Del DEL TAT TAT - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr3:186295532_186295534delTAT ENST00000439351.1 + 5 1328_1330 c.399_401delTAT c.(397-402)gat>ga p.DI133del DNAJB11_ENST00000265028.3_In_Frame_Del_p.DI133del Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 133 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) GAGGAAGTGATATTATTGTAGAT 0.369 20 64 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 9 193 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102745470 102745473 + RNA DEL CAAA CAAA - rs28360358 TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr11:102745470_102745473delCAAA ENST00000532855.1 - 0 199 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TACGTAAaagcaaacaaacaaaca 0.324 12 2 --- --- --- --- RLTPR 146206 broad.mit.edu 37 16 67680147 67680148 + In_Frame_Ins INS - - CCTGGA TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr16:67680147_67680148insCCTGGA ENST00000334583.6 + 5 636_637 c.308_309insCCTGGA c.(307-309)gct>gCCTGGAct p.103_104insWT RLTPR_ENST00000545661.1_In_Frame_Ins_p.103_104insWT NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 103 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGTGTGGCCGCCCTGGAACAGC 0.639 15 61 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577594 7577595 + Frame_Shift_Del DEL AC AC - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr17:7577594_7577595delAC ENST00000420246.2 - 7 818_819 c.686_687delGT c.(685-687)tfs p.C229fs TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 229 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229*(3)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.T230fs*9(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGATGGTGGTACAGTCAGAGCC 0.530 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 71 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-CR-6493-01A-11D-1870-08 TCGA-CR-6493-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx f061abfa-4554-4328-9e8f-b84dd2aa4b45 b8689030-bf4c-4d70-a563-b974838c6bd1 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 10 341 --- --- --- ---