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 UBR4 23352 broad.mit.edu 37 1 19468015 19468015 + Missense_Mutation SNP C C G TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr1:19468015C>G ENST00000375267.2 - 57 8317 c.8314G>C c.(8314-8316)Gag>Cag p.E2772Q UBR4_ENST00000375254.3_Missense_Mutation_p.E2772Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2772 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACCATCGACTCAGACTGCAGA 0.552000 11 45 0 0 1 0 0 POC1B-GALNT4 0 broad.mit.edu 37 12 89916698 89916698 + Missense_Mutation SNP G G T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr12:89916698G>T ENST00000548729.1 - 3 1922 c.1620C>A c.(1618-1620)caC>caA p.H540Q POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.H543Q|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.H371Q|POC1B_ENST00000541909.1_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 ACAGTCCTGAGTGTGGGTGAA 0.398000 8 72 1.06961e-07 1.06961e-07 1 1 0 TTYH3 80727 broad.mit.edu 37 7 2689592 2689592 + Missense_Mutation SNP A A G TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr7:2689592A>G ENST00000258796.7 + 7 1046 c.841A>G c.(841-843)Atg>Gtg p.M281V TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 281 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CGTGACCAAAATGGTGGAGGA 0.622000 11 33 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45397878 45397878 + Missense_Mutation SNP C C T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr15:45397878C>T ENST00000389039.6 - 18 2682 c.2297G>A c.(2296-2298)cGc>cAc p.R766H DUOX2_ENST00000603300.1_Missense_Mutation_p.R766H Q9NRD8 DUOX2_HUMAN dual oxidase 2 766 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTCCAGGATGCGTTCCCGCTG 0.562000 26 46 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577532 7577532 + Missense_Mutation SNP G G C TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr17:7577532G>C ENST00000420246.2 - 7 881 c.749C>G c.(748-750)cCc>cGc p.P250R TP53_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000269305.4_Missense_Mutation_p.P250R|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000359597.4_Missense_Mutation_p.P250R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 250 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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) GGTGAGGATGGGCCTCCGGTT 0.577000 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) 3 32 0 0 1 0 0 IQGAP1 8826 broad.mit.edu 37 15 91016190 91016190 + Missense_Mutation SNP G G A TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr15:91016190G>A ENST00000268182.5 + 19 2421 c.2297G>A c.(2296-2298)cGa>cAa p.R766Q IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 766 IQ 1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CAGGAATTCCGATCCAGGATG 0.517000 36 73 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67023806 67023806 + Missense_Mutation SNP A A G TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr17:67023806A>G ENST00000340001.4 - 13 1977 c.1766T>C c.(1765-1767)aTt>aCt p.I589T ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 589 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ATGTGGCAAAATCCCTTTTAT 0.353000 3 62 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 3 57 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H 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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 14 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179438184 179438184 + Silent SNP C C T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr2:179438184C>T ENST00000589042.1 - 326 72899 c.72675G>A c.(72673-72675)ccG>ccA p.P24225P TTN_ENST00000359218.5_Silent_p.P15285P|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_ENST00000591111.1_Silent_p.P22584P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.P15160P|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22584 Ig-like 121. 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) GGTTTTTGGGCGGATCAGGGG 0.438000 37 65 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952048 178952048 + Missense_Mutation SNP G G A TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr3:178952048G>A ENST00000263967.3 + 21 3260 c.3103G>A c.(3103-3105)Gct>Act p.A1035T NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1035 PI3K/PI4K. A -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.A1035T(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAGCAAGAGGCTTTGGAGTA 0.388000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 3 56 0 0 1 0 0 CWC22 57703 broad.mit.edu 37 2 180835797 180835797 + Missense_Mutation SNP C C T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr2:180835797C>T ENST00000410053.3 - 9 1110 c.811G>A c.(811-813)Gaa>Aaa p.E271K CWC22_ENST00000295749.6_Missense_Mutation_p.E271K NM_020943.2 NP_065994.1 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog (S. cerevisiae) 271 MIF4G. catalytic step 2 spliceosome protein binding|RNA binding p.E271K(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1) 30 CATAATACTTCGTGTGCCTTA 0.299000 4 12 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35449165 35449165 + Missense_Mutation SNP G G A TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr19:35449165G>A ENST00000404801.1 - 4 1980 c.1594C>T c.(1594-1596)Cgg>Tgg p.R532W ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TCATAAGGCCGCTCGCCGGTG 0.517000 12 25 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63933734 63933734 + Missense_Mutation SNP G G C TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr15:63933734G>C ENST00000443617.2 - 60 11629 c.11542C>G c.(11542-11544)Ccc>Gcc p.P3848A NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3848 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTCATGCAGGGAGCCATGTTC 0.483000 10 17 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33586196 33586196 + Silent SNP G G A TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr20:33586196G>A ENST00000262873.7 + 31 4064 c.3972G>A c.(3970-3972)acG>acA p.T1324T NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1282 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) ACGCAAGCACGCAGCGTGGGC 0.647000 25 58 0 0 1 0 0 EREG 2069 broad.mit.edu 37 4 75248410 75248410 + Silent SNP C C T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr4:75248410C>T ENST00000244869.2 + 4 493 c.327C>T c.(325-327)acC>acT p.T109T EREG_ENST00000503689.1_3'UTR NM_001432.2 NP_001423.1 O14944 EREG_HUMAN epiregulin 109 angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 Lung(101;0.196) TCTTTTTAACCGTCCACCAAC 0.368000 4 70 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77638042 77638042 + Missense_Mutation SNP T T C TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr3:77638042T>C ENST00000461745.1 + 17 3541 c.2641T>C c.(2641-2643)Tat>Cat p.Y881H ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 881 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CATATGGTTGTATTGGCGAAG 0.408000 7 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595438 179595438 + Missense_Mutation SNP A A G TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr2:179595438A>G ENST00000589042.1 - 61 18046 c.17822T>C c.(17821-17823)aTa>aCa p.I5941T TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I5624T|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5624 Ig-like 40. 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) CCCAGCCACTATACATTCTAA 0.358000 4 78 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003665 74003665 + Missense_Mutation SNP C C T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr17:74003665C>T ENST00000301607.3 - 22 5874 c.5621G>A c.(5620-5622)cGt>cAt p.R1874H EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1874 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GTAGCGCTCACGGCTGAGCAG 0.627000 4 138 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577139 7577139 + Missense_Mutation SNP G G A rs55832599 TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr17:7577139G>A ENST00000420246.2 - 8 931 c.799C>T c.(799-801)Cgg>Tgg p.R267W TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 267 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). 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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) AAGCTGTTCCGTCCCAGTAGA 0.522000 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) 5 7 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62676147 62676147 + Silent SNP T T C TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr1:62676147T>C ENST00000498273.1 + 4 1996 c.1701T>C c.(1699-1701)gaT>gaC p.D567D NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 567 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 TGAGTCATGATGAGCATAAAA 0.423000 18 42 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215743 8215743 + Missense_Mutation SNP C C T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr17:8215743C>T ENST00000361926.3 + 2 496 c.386C>T c.(385-387)aCg>aTg p.T129M ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 129 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TCACCCTGCACGCCTCTGCTC 0.672000 53 31 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766136 88766136 + Frame_Shift_Del DEL A A - TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr4:88766136delA ENST00000497649.2 + 6 422 c.44delA c.(43-45)gafs p.E15fs MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000424957.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000540395.1_5'UTR Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 39 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TAGCAGGAAGAAAAAAACAAA 0.259 13 23 --- --- --- --- GSX1 219409 broad.mit.edu 37 13 28367943 28367944 + Frame_Shift_Ins INS - - T TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr13:28367943_28367944insT ENST00000302945.2 + 2 701_702 c.653_654insT c.(652-654)ggcfs p.G218fs NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 218 Poly-Gly. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) ggcggcgggggtgccggtggtg 0.629 14 26 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57524624 57524625 + Frame_Shift_Ins INS - - C TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr15:57524624_57524625insC ENST00000267811.5 + 10 1125_1126 c.821_822insC c.(820-822)cttfs p.L274fs TCF12_ENST00000343827.3_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.L270fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 274 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TCACATGACCGCTTGGTAGGCT 0.446 T TEC extraskeletal myxoid chondrosarcoma 34 48 --- --- --- --- MED1 5469 broad.mit.edu 37 17 37580057 37580059 + In_Frame_Del DEL GAG GAG - TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr17:37580057_37580059delGAG ENST00000300651.6 - 12 1090_1092 c.867_869delCTC c.(865-870)tca>tc p.SS289del MED1_ENST00000394287.3_In_Frame_Del_p.SS289del NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 289 Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ACTGGTGATTGAGGAGAAGGAAG 0.409 HNSCC(31;0.082) 9 44 --- --- --- --- MYT1 4661 broad.mit.edu 37 20 62854706 62854707 + Frame_Shift_Ins INS - - C TCGA-TM-A84F-01A-11D-A36O-08 TCGA-TM-A84F-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a349181-af96-4b55-a643-2e29432c06cc eb1db492-2bce-4a43-b8bd-3803b6552fd9 g.chr20:62854706_62854707insC ENST00000536311.1 + 16 2967_2968 c.2603_2604insC c.(2602-2604)gctfs p.A868fs MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Frame_Shift_Ins_p.A841fs Q01538 MYT1_HUMAN myelin transcription factor 1 841 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CACTCTGCTGACCTCAAGTATG 0.550 61 133 --- --- --- ---