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 TTN 7273 broad.mit.edu 37 2 179417788 179417788 + Nonsense_Mutation SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr2:179417788G>A ENST00000589042.1 - 335 90063 c.89839C>T c.(89839-89841)Cga>Tga p.R29947* TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20882*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R28306*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R21074*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R21007*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27379* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28306 Fibronectin type-III 118. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGTGCCTCGAGAAACATGT 0.423000 8 43 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40366226 40366226 + Missense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr19:40366226C>T ENST00000221347.6 - 30 14015 c.14008G>A c.(14008-14010)Gtg>Atg p.V4670M NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4670 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCGGAGATCACGCCGCAGGCG 0.726000 19 70 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76067993 76067993 + RNA SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr15:76067993G>A ENST00000395215.3 + 0 100 ACTCAACAGAGTAAATTGGCA 0.532000 6 33 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236626277 236626277 + Missense_Mutation SNP A A C TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr2:236626277A>C ENST00000409538.1 + 3 1590 c.1094A>C c.(1093-1095)gAg>gCg p.E365A AGAP1_ENST00000336665.5_Missense_Mutation_p.E100A|AGAP1_ENST00000304032.7_Missense_Mutation_p.E100A|AGAP1_ENST00000409457.1_Missense_Mutation_p.E100A Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 100 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GTCCAGGAGGAGTCTCCGGAA 0.448000 16 55 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578266 7578266 + Missense_Mutation SNP T T A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr17:7578266T>A ENST00000420246.2 - 6 715 c.583A>T c.(583-585)Atc>Ttc p.I195F TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 195 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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) TCCACTCGGATAAGATGCTGA 0.557000 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) 4 44 0 0 1 0 0 HIST1H4C 8364 broad.mit.edu 37 6 26104327 26104327 + Missense_Mutation SNP T T C TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr6:26104327T>C ENST00000377803.2 + 1 224 c.152T>C c.(151-153)aTc>aCc p.I51T NM_003542.3 NP_003533.1 P62805 H4_HUMAN histone cluster 1, H4c 51 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 TCCGGTCTTATCTATGAGGAG 0.542000 10 50 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402666 33402666 + Missense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr1:33402666C>T ENST00000373456.7 - 9 1939 c.1940G>A c.(1939-1941)tGc>tAc p.C647Y RNF19B_ENST00000235150.4_Missense_Mutation_p.C646Y|RNF19B_ENST00000356990.5_3'UTR NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 647 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCTGGCCAGGCAGTCTTTCTG 0.547000 58 81 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53348818 53348818 + Missense_Mutation SNP T T A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr16:53348818T>A ENST00000566029.1 + 36 7607 c.7398T>A c.(7396-7398)gaT>gaA p.D2466E CHD9_ENST00000447540.1_Missense_Mutation_p.D2467E|CHD9_ENST00000564845.1_Missense_Mutation_p.D2466E|CHD9_ENST00000398510.3_Missense_Mutation_p.D2482E Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2482 Binds A/T-rich DNA. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GAATTCCTGATACAGAAAGTC 0.398000 14 82 0 0 1 0 0 CHRM5 0 broad.mit.edu 37 15 34356257 34356257 + Missense_Mutation SNP A A G TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr15:34356257A>G ENST00000383263.5 + 3 2009 c.1339A>G c.(1339-1341)Att>Gtt p.I447V CHRM5_ENST00000557872.1_Missense_Mutation_p.I447V NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 447 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) ACTGAGTGCCATTCTCCTGGC 0.512000 35 64 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236626276 236626276 + Nonsense_Mutation SNP G G T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr2:236626276G>T ENST00000409538.1 + 3 1589 c.1093G>T c.(1093-1095)Gag>Tag p.E365* AGAP1_ENST00000336665.5_Nonsense_Mutation_p.E100*|AGAP1_ENST00000304032.7_Nonsense_Mutation_p.E100*|AGAP1_ENST00000409457.1_Nonsense_Mutation_p.E100* Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 100 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGTCCAGGAGGAGTCTCCGGA 0.448000 16 55 2.23348e-06 2.44029e-06 1 1 0 IGHD5-12 0 broad.mit.edu 37 14 106368513 106368513 + RNA SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr14:106368513G>A ENST00000390581.1 - 0 16 TGTGGTAATCGTAGCCACTAT 0.607000 20 27 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136131727 136131727 + RNA SNP T T C TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr9:136131727T>C ENST00000453660.2 - 0 401 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGGAACAGCTTCAGGAAAGCC 0.701000 33 41 0 0 1 0 0 LCE3C 353144 broad.mit.edu 37 1 152573380 152573380 + Missense_Mutation SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr1:152573380G>A ENST00000333881.3 + 1 243 c.173G>A c.(172-174)aGg>aAg p.R58K NM_178434.2 NP_848521.1 Q5T5A8 LCE3C_HUMAN late cornified envelope 3C 58 keratinization lung(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) AGCCACCACAGGCACTTCAGG 0.642000 73 9 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937364 82937364 + Missense_Mutation SNP T T A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr5:82937364T>A ENST00000274341.4 - 5 1866 c.1016A>T c.(1015-1017)gAt>gTt p.D339V NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 339 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ATGCTTTTTATCTGGGAAACC 0.517000 10 170 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15734031 15734031 + RNA SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr19:15734031G>A ENST00000441682.2 + 0 825 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TGTGGACGGCGCTTCCACAGG 0.562000 46 47 0 0 1 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377695 125377695 + Missense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr9:125377695C>T ENST00000297913.2 + 1 748 c.679C>T c.(679-681)Cgg>Tgg p.R227W RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 GGTGGTCCTCCGGATCCCCTC 0.537000 33 123 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40915064 40915064 + Missense_Mutation SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr15:40915064G>A ENST00000346991.5 + 11 3070 c.2680G>A c.(2680-2682)Gat>Aat p.D894N CASC5_ENST00000399668.2_Missense_Mutation_p.D868N|CASC5_ENST00000527044.1_3'UTR Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 894 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TTCAGAAGACGATAAGAATGA 0.333000 10 92 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 46 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377091 77377091 + Missense_Mutation SNP A A G TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr9:77377091A>G ENST00000451710.3 - 26 4733 c.4496T>C c.(4495-4497)cTa>cCa p.L1499P TRPM6_ENST00000449912.2_Missense_Mutation_p.L1494P|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1499P|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1494P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1499P Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1499 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTTATCAGATAGGGAGCTGTC 0.507000 17 118 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101200659 101200659 + Missense_Mutation SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr14:101200659G>A ENST00000341267.4 + 5 820 c.578G>A c.(577-579)cGc>cAc p.R193H DLK1_ENST00000331224.6_Missense_Mutation_p.R193H NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 193 EGF-like 5. multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) GGCGACTTCCGCTGCCGGTGC 0.662000 4 62 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150556078 150556078 + Missense_Mutation SNP A A G TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr7:150556078A>G ENST00000493429.1 + 5 2382 c.1798A>G c.(1798-1800)Atg>Gtg p.M600V AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.M600V|AOC1_ENST00000416793.2_Missense_Mutation_p.M600V|AOC1_ENST00000467291.1_Missense_Mutation_p.M600V amine oxidase, copper containing 1 GATCCACTCCATGGCCGACCA 0.647000 5 12 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 24 52 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39932880 39932880 + Silent SNP G G T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chrX:39932880G>T ENST00000342274.4 - 4 2081 c.1719C>A c.(1717-1719)gcC>gcA p.A573A BCOR_ENST00000378455.4_Silent_p.A573A|BCOR_ENST00000397354.3_Silent_p.A573A|BCOR_ENST00000378444.4_Silent_p.A573A NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 573 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGGCATTGGGGGCGGGTGATG 0.617000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 4 46 0.00024832 0.000261623 1 1 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 4 59 0 0 1 0 0 IFI35 3430 broad.mit.edu 37 17 41166236 41166236 + Missense_Mutation SNP G G A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr17:41166236G>A ENST00000415816.2 + 7 1004 c.781G>A c.(781-783)Ggg>Agg p.G261R IFI35_ENST00000438323.2_Missense_Mutation_p.G263R NM_005533.4 NP_005524.2 P80217 IN35_HUMAN interferon-induced protein 35 261 response to virus|type I interferon-mediated signaling pathway nucleus protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.157) GCCCACCCGCGGGGGCGGGGA 0.622000 39 31 0 0 1 0 0 STOML3 0 broad.mit.edu 37 13 39564828 39564828 + Nonsense_Mutation SNP G G A rs147878470 TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr13:39564828G>A ENST00000379631.4 - 1 375 c.31C>T c.(31-33)Caa>Taa p.Q11* STOML3_ENST00000423210.1_5'UTR NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 11 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TCTTTATCTTGCTTCTCAGGT 0.388000 17 80 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24566850 24566850 + Missense_Mutation SNP C C A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr6:24566850C>A ENST00000535378.1 - 15 2882 c.2240G>T c.(2239-2241)cGg>cTg p.R747L KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 756 PKD 5. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTGGCCATCCCGGATCCACAG 0.463000 39 58 2.19358e-23 2.44191e-23 1 1 0 EPHB6 0 broad.mit.edu 37 7 142568143 142568143 + Silent SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr7:142568143C>T ENST00000392957.2 + 18 3571 c.2784C>T c.(2782-2784)ggC>ggT p.G928G EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Silent_p.G651G|EPHB6_ENST00000442129.1_Silent_p.G928G NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 928 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TGCAGGCTGGCGGGGACCCAG 0.582000 27 106 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577081 7577081 + Missense_Mutation SNP T T C TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr17:7577081T>C ENST00000420246.2 - 8 989 c.857A>G c.(856-858)gAa>gGa p.E286G TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000269305.4_Missense_Mutation_p.E286G|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E286G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 286 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) GAGATTCTCTTCCTCTGTGCG 0.562000 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) 48 21 0 0 1 0 0 SPTBN1 0 broad.mit.edu 37 2 54853094 54853094 + Missense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr2:54853094C>T ENST00000333896.5 + 11 1713 c.1328C>T c.(1327-1329)gCa>gTa p.A443V SPTBN1_ENST00000356805.4_Missense_Mutation_p.A456V NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 456 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GACCTTCCTGCAGTTGAGGCC 0.522000 11 35 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1396282 1396282 + Missense_Mutation SNP C C A TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr1:1396282C>A ENST00000378785.2 + 10 1960 c.965C>A c.(964-966)gCc>gAc p.A322D NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 322 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTTAAGCCGGCCACAGAAGGA 0.627000 7 36 0.0293803 0.0293803 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27056286 27056286 + Nonsense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr1:27056286C>T ENST00000324856.7 + 2 1653 c.1282C>T c.(1282-1284)Cag>Tag p.Q428* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q428*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q45* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 428 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCAGACCCCGCAGCGGTACCC 0.607000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 11 81 0 0 1 0 0 GPRC5B 0 broad.mit.edu 37 16 19883181 19883181 + Silent SNP G G C TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr16:19883181G>C ENST00000300571.2 - 2 1178 c.987C>G c.(985-987)gcC>gcG p.A329A GPRC5B_ENST00000537135.1_Silent_p.A355A|GPRC5B_ENST00000535671.1_Silent_p.A329A|GPRC5B_ENST00000569847.1_Silent_p.A329A|GPRC5B_ENST00000569479.1_Silent_p.A329A NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 329 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCTCCATATAGGCCCGCGGCA 0.597000 9 83 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25425489 25425489 + RNA SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr15:25425489C>T ENST00000441592.2 + 0 477 GCATTGGGTCCGCTGGCCCCA 0.617000 22 30 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64603009 64603009 + Missense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr11:64603009C>T ENST00000342711.5 - 15 1842 c.1843G>A c.(1843-1845)Gcc>Acc p.A615T NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 615 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TCTCGCAGGGCGGCCACCTCC 0.692000 14 124 0 0 1 0 0 GPRC5B 0 broad.mit.edu 37 16 19883826 19883826 + Silent SNP G G T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr16:19883826G>T ENST00000300571.2 - 2 533 c.342C>A c.(340-342)atC>atA p.I114I GPRC5B_ENST00000537135.1_Silent_p.I140I|GPRC5B_ENST00000535671.1_Silent_p.I114I|GPRC5B_ENST00000569847.1_Silent_p.I114I|GPRC5B_ENST00000569479.1_Silent_p.I114I NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 114 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCTCCTGGATGATGAAGGCAA 0.612000 5 27 0.000602214 0.000623345 1 1 0 SNAPIN 23557 broad.mit.edu 37 1 153633756 153633756 + Silent SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr1:153633756C>T ENST00000368685.5 + 4 480 c.390C>T c.(388-390)ccC>ccT p.P130P SNAPIN_ENST00000478558.1_3'UTR NM_012437.5 NP_036569.1 O95295 SNAPN_HUMAN SNAP-associated protein 130 intracellular protein transport|synaptic vesicle exocytosis BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome SNARE binding lung(3) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GAATTTACCCCCCTGGCTCCC 0.507000 8 38 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 161918 161918 + Silent SNP A A G TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr5:161918A>G ENST00000283426.6 + 10 1490 c.1440A>G c.(1438-1440)ctA>ctG p.L480L NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 480 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGAAAGGACTACAGCTGGCGA 0.582000 11 41 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276467 152276468 + In_Frame_Ins INS - - GGA TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr1:152276467_152276468insGGA ENST00000368799.1 - 3 10929_10930 c.10894_10895insTCC c.(10894-10896)gtc>TCCgtc p.3631_3632insS FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3631 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGCTGACTGCTGGTGGTGG 0.554 Ichthyosis 7 911 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738862 65738863 + RNA DEL TG TG - TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr2:65738862_65738863delTG ENST00000377977.3 + 0 862 TTTTTTTTTTTGTCCAGGAGGC 0.302 2 4 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72662349 72662350 + RNA DEL AA AA - TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr7:72662349_72662350delAA ENST00000425256.1 - 0 1007 NR_002164.1 ctctgtctccaaaaaaaaaaaa 0.475 3 3 --- --- --- --- NCS1 23413 broad.mit.edu 37 9 132934945 132934945 + Translation_Start_Site DEL G G - TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr9:132934945delG ENST00000372398.3 + 0 89 NM_014286.3 NP_055101.2 P62166 NCS1_HUMAN neuronal calcium sensor 1 negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding large_intestine(1)|lung(4)|stomach(1) 6 cgccgAGGATGGGGAAATCCA 0.751 2 4 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115375030 115375035 + In_Frame_Del DEL AGCCGG AGCCGG - TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr11:115375030_115375035delAGCCGG ENST00000542447.2 - 1 206_211 c.78_83delCCGGCT c.(76-84)ctt>ct p.LRL26del CADM1_ENST00000452722.2_In_Frame_Del_p.LRL26del|CADM1_ENST00000536727.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000331581.6_In_Frame_Del_p.LRL26del|CADM1_ENST00000537058.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000537140.1_5'UTR NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 26 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CAACAGCAGAAGCCGGAGCCGGAGCC 0.694 4 6 --- --- --- --- FOXM1 2305 broad.mit.edu 37 12 2983282 2983283 + Frame_Shift_Del DEL GA GA - TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr12:2983282_2983283delGA ENST00000342628.2 - 2 475_476 c.362_363delTC c.(361-363)cfs p.L121fs FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000537018.1_5'UTR NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 121 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TTTGAGGCCGGAGTCCTGGAGG 0.540 27 120 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938601 76938605 + Frame_Shift_Del DEL AATTT AATTT - TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60b581b-2e7d-4c89-af6f-2de8cf79bcd7 cbdff4de-7729-4d99-b9be-f4807a99630f g.chrX:76938601_76938605delAATTT ENST00000373344.5 - 9 2357_2361 c.2143_2147delAAATT c.(2143-2148)gfs p.KL715fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KL677fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 715 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGATTTTGGCAATTTATTAGGCTTA 0.361 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 25 118 --- --- --- ---