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 PRPF18 8559 broad.mit.edu 37 10 13642288 13642288 + Silent SNP T T C TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr10:13642288T>C ENST00000378572.3 + 3 349 c.189T>C c.(187-189)aaT>aaC p.N63N NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 63 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 CTTCATCGAATCCAGTGTTAG 0.338000 4 51 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651459 1651459 + Missense_Mutation SNP G G T TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr11:1651459G>T ENST00000399676.2 + 1 427 c.389G>T c.(388-390)gGc>gTc p.G130V NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 130 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGGGCTGTGGCTCCTGTGGG 0.692000 4 40 0.000274275 0.000286742 1 1 0 C17orf62 79415 broad.mit.edu 37 17 80401693 80401693 + Missense_Mutation SNP C C T rs145920831 by1000genomes TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr17:80401693C>T ENST00000583617.1 - 7 504 c.449G>A c.(448-450)cGt>cAt p.R150H C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000336995.7_Silent_p.P102P|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000306645.5_3'UTR Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 0 integral to membrane protein binding p.P140P(1) breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GAATGTGCCACGGGTCCTGTG 0.682000 6 96 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52529474 52529474 + Silent SNP C C T TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr3:52529474C>T ENST00000321725.6 + 1 121 c.45C>T c.(43-45)ttC>ttT p.F15F NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 15 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCCTGGCCTTCTGCCTGGCAG 0.692000 3 24 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 33 0.00909568 0.00909568 1 1 0 KIF1B 23095 broad.mit.edu 37 1 10380118 10380118 + Silent SNP G G A TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr1:10380118G>A ENST00000377086.1 + 23 2335 c.2133G>A c.(2131-2133)ttG>ttA p.L711L KIF1B_ENST00000263934.6_Silent_p.L665L|KIF1B_ENST00000377081.1_Silent_p.L711L O60333 KIF1B_HUMAN kinesin family member 1B 711 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGAGTAAATTGCAGGCCTTGC 0.443000 8 21 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43917695 43917695 + Missense_Mutation SNP C C T TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr7:43917695C>T ENST00000336086.6 - 4 3474 c.1238G>A c.(1237-1239)cGc>cAc p.R413H URGCP_ENST00000223341.7_Missense_Mutation_p.R413H|URGCP_ENST00000402306.3_Missense_Mutation_p.R447H|URGCP_ENST00000453200.1_Missense_Mutation_p.R456H|URGCP_ENST00000447717.3_Missense_Mutation_p.R413H|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.R413H|RP5-1165K10.1_ENST00000603700.1_Intron Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 456 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCCCAGTTTGCGGGCTGCGTG 0.582000 4 172 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 1003772 1003772 + Missense_Mutation SNP T T A TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr11:1003772T>A ENST00000448903.2 + 16 2315 c.2174T>A c.(2173-2175)aTt>aAt p.I725N AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.I726N NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 725 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGCTTCAAATTGGACTTAAG 0.343000 3 20 0 0 1 0 0 MYBPH 4608 broad.mit.edu 37 1 203140290 203140290 + Missense_Mutation SNP C C T TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr1:203140290C>T ENST00000255416.4 - 6 889 c.832G>A c.(832-834)Gtc>Atc p.V278I NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 278 Fibronectin type-III 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CAGCCCCAGACGTCCAGGAGC 0.612000 4 75 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682486 126682486 + Silent SNP T T C rs76949963 by1000genomes TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr10:126682486T>C ENST00000309035.6 - 6 2599 c.2469A>G c.(2467-2469)caA>caG p.Q823Q CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 283 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTGAGGGCTTGTGCTAAGG 0.617000 5 194 0 0 1 0 0 CCBL1 883 broad.mit.edu 37 9 131599993 131599993 + Missense_Mutation SNP G G C TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr9:131599993G>C ENST00000436267.2 - 8 969 c.820C>G c.(820-822)Ctc>Gtc p.L274V CCBL1_ENST00000320665.6_Missense_Mutation_p.L130V|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.L180V Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 180 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) GGGGTGTTGAGGACCAGGGCT 0.607000 4 68 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38949966 38949966 + Missense_Mutation SNP C C T TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr19:38949966C>T ENST00000355481.4 + 19 2479 c.2348C>T c.(2347-2349)tCg>tTg p.S783L RYR1_ENST00000359596.3_Missense_Mutation_p.S783L|RYR1_ENST00000360985.3_Missense_Mutation_p.S783L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 783 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTCAGCTTCTCGGCTGGTGTC 0.607000 3 33 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 38 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 34 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47103828 47103828 + Nonsense_Mutation SNP G G A TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr3:47103828G>A ENST00000409792.3 - 14 6160 c.6118C>T c.(6118-6120)Cga>Tga p.R2040* SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2040 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCCCTTCCTCGTTCAGTTGCT 0.388000 """N, F, S, Mis""" clear cell renal carcinoma 10 215 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr10:126682516G>A ENST00000309035.6 - 6 2569 c.2439C>T c.(2437-2439)ggC>ggT p.G813G CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 273 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCACCAGGCCGCCACGGGCTG 0.582000 5 167 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 48 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181414 128181414 + Missense_Mutation SNP C C A TCGA-H9-A6BX-01A-31D-A30X-08 TCGA-H9-A6BX-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30eed465-db39-4e44-8663-e25e7d2dfe01 59d383d8-c1ee-4cf7-b802-0a75b257e576 g.chr3:128181414C>A ENST00000469083.1 - 2 3232 c.675G>T c.(673-675)caG>caT p.Q225H DNAJB8_ENST00000319153.3_Missense_Mutation_p.Q225H Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 225 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TCCATTTGAGCTGCTCCTTGC 0.632000 6 141 8.12818e-05 8.9023e-05 1 1 0