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 KDM2A 22992 broad.mit.edu 37 11 66983353 66983353 + Missense_Mutation SNP G G A TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr11:66983353G>A ENST00000529006.2 + 8 1066 c.620G>A c.(619-621)tGc>tAc p.C207Y KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.C207Y NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 207 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 GTTCGAGGCTGCTATACTGAC 0.448000 10 237 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158646045 158646045 + Missense_Mutation SNP G G A TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr1:158646045G>A ENST00000368148.3 - 8 1178 c.998C>T c.(997-999)tCc>tTc p.S333F SPTA1_ENST00000368147.3_Missense_Mutation_p.S333F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 333 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGAAGGATGGGAAAGTGTCAG 0.478000 108 161 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 9 0.004672 0.004672 1 1 0 MT-CO1 4512 broad.mit.edu 37 MT 6340 6340 + Missense_Mutation SNP C C T TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chrM:6340C>T ENST00000361624.2 + 1 437 c.437C>T c.(436-438)aCc>aTc p.146_146insI mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CGTAGACCTAACCATCTTCTC 0.498000 19 0 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 6 50 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5720735 5720735 + Silent SNP T T C TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr9:5720735T>C ENST00000414202.2 + 6 896 c.705T>C c.(703-705)agT>agC p.S235S KIAA1432_ENST00000449720.2_Silent_p.S156S|KIAA1432_ENST00000251879.6_Silent_p.S235S|KIAA1432_ENST00000418622.3_Silent_p.S156S|KIAA1432_ENST00000381532.2_Silent_p.S156S NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 235 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CAGTGTCAAGTAGATTTACTG 0.328000 73 98 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10714637 10714637 + Missense_Mutation SNP G G T TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr1:10714637G>T ENST00000377022.3 - 10 1994 c.1677C>A c.(1675-1677)aaC>aaA p.N559K CASZ1_ENST00000344008.5_Missense_Mutation_p.N559K NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TGTACACCTTGTTACAGCCCA 0.607000 12 190 0.00136819 0.00143335 1 1 0 IGF1R 3480 broad.mit.edu 37 15 99500579 99500579 + Missense_Mutation SNP G G A rs34102392 TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr15:99500579G>A ENST00000268035.6 + 21 4623 c.4012G>A c.(4012-4014)Gcc>Acc p.A1338T IGF1R_ENST00000558762.1_Missense_Mutation_p.A1337T|RP11-654A16.3_ENST00000559468.1_RNA NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1338 A -> T (in dbSNP:rs34102392). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGTCCTCCGCGCCAGCTTCGA 0.682000 4 69 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 36 51 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103495209 103495209 + Silent SNP C C T TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chrX:103495209C>T ENST00000372588.4 - 4 1004 c.921G>A c.(919-921)ccG>ccA p.P307P NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 307 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GCGCCATGGGCGGCCAGGGTG 0.781000 3 29 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11772507 11772507 + Missense_Mutation SNP C C A TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr17:11772507C>A ENST00000262442.3 + 51 10058 c.9990C>A c.(9988-9990)gaC>gaA p.D3330E DNAH9_ENST00000454412.2_Missense_Mutation_p.D3330E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3330 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAACAGCAGACAAACTCAAAT 0.493000 6 124 0.00116845 0.00128529 1 1 0 ATM 472 broad.mit.edu 37 11 108196147 108196147 + Missense_Mutation SNP C C T TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr11:108196147C>T ENST00000278616.4 + 46 7068 c.6683C>T c.(6682-6684)aCa>aTa p.T2228I C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.T2228I NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2228 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCTCTACGCACAGTCATTTTG 0.403000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 53 81 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132999878 132999878 + Missense_Mutation SNP T T C TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr8:132999878T>C ENST00000254624.5 + 18 2219 c.1994T>C c.(1993-1995)aTt>aCt p.I665T EFR3A_ENST00000334503.4_Missense_Mutation_p.I665T|EFR3A_ENST00000519656.1_Missense_Mutation_p.I629T NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 665 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ACCAACAAGATTGCAGAGTCG 0.368000 5 5 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 5 9 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 7 211 --- --- --- --- ADSSL1 122622 broad.mit.edu 37 14 105211154 105211154 + Frame_Shift_Del DEL C C - TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr14:105211154delC ENST00000332972.5 + 11 1367 c.1208delC c.(1207-1209)gcfs p.A403fs ADSSL1_ENST00000330877.2_Frame_Shift_Del_p.A360fs|ADSSL1_ENST00000554657.1_3'UTR NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 360 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CACAGGCTGGCCCTGACGAAG 0.532 27 46 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 4 9 --- --- --- --- ATF5 22809 broad.mit.edu 37 19 50435928 50435930 + In_Frame_Del DEL TGT TGT - TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr19:50435928_50435930delTGT ENST00000423777.2 + 3 805_807 c.428_430delTGT c.(427-432)ccc>c p.LS143del CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_In_Frame_Del_p.LS143del NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 143 Interaction with PTP4A1 (By similarity). regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TCCCTCCCCCTGTCCCTCCCCTC 0.650 2 4 --- --- --- --- CLIC6 54102 broad.mit.edu 37 21 36042463 36042492 + In_Frame_Del DEL GCGTAGAAGCGGGGGTCCCGGCGGGGGACA GCGTAGAAGCGGGGGTCCCGGCGGGGGACA - rs62213790 by1000genomes TCGA-J8-A3YE-01A-12D-A23M-08 TCGA-J8-A3YE-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx e53c7649-f665-435b-84b1-c5c7c7ebdabd e7ef3b65-2857-4fc3-8e8d-01329c7e7ee3 g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA ENST00000360731.3 + 1 776_805 c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA c.(775-807)ggc>g p.GVEAGVPAGDS259del CLIC6_ENST00000349499.2_In_Frame_Del_p.GVEAGVPAGDS259del Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 259 13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP]. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity p.S269G(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC 0.761 5 2 --- --- --- ---