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 TG 7038 broad.mit.edu 37 8 133906022 133906022 + Missense_Mutation SNP G G A TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr8:133906022G>A uc003ytw.3 + 10 2890 c.2849G>A c.(2848-2850)cGg>cAg p.R950Q NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 950 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACAGTTCTCGGTTCCCTCTG 0.572000 4 111 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2983216 2983216 + Silent SNP T T G TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr12:2983216T>G uc001qle.3 - 1 712 c.429A>C c.(427-429)ccA>ccC p.P143P FOXM1_uc001qlf.3_Silent_p.P143P|FOXM1_uc009zea.3_Silent_p.P143P|FOXM1_uc009zeb.3_Silent_p.P143P|FOXM1_uc001qlg.3_Silent_p.P143P NM_202002 NP_973731 Q08050 FOXM1_HUMAN Homo sapiens forkhead box M1 (FOXM1), transcript variant 1, mRNA. 143 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 Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|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) CTGCAGGTTTTGGTCCCAAGG 0.572000 3 134 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184090683 184090683 + Missense_Mutation SNP G G C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr3:184090683G>C uc003fol.1 - 5 895 c.680C>G c.(679-681)gCc>gGc p.A227G THPO_uc003fom.2_Missense_Mutation_p.A223G|THPO_uc021xii.1_Missense_Mutation_p.S221R|THPO_uc003fon.3_Missense_Mutation_p.S188R|THPO_uc011bro.2_Missense_Mutation_p.S184R|THPO_uc003fop.3_Missense_Mutation_p.S184R|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript NM_000460 NP_000451 P40225 TPO_HUMAN Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA. 227 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGAATCTTGGCTCTGAATCC 0.527000 4 50 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838718 43838718 + Splice_Site SNP G G T TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr21:43838718G>T uc002zbe.3 + 7 1130 c.1046_splice c.e7+1 p.R349_splice UBASH3A_uc002zbf.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpe.3_Splice_Site_p.R311_splice|UBASH3A_uc010gpc.3_Splice_Site|UBASH3A_uc010gpd.3_Splice_Site|U6_uc021wjq.1_5'Flank NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 349 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GTGAAGCACAGGTGAGTGCTG 0.582000 13 17 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13942398 13942398 + Splice_Site SNP A A G TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr1:13942398A>G uc001avd.3 + 6 760 c.711_splice c.e6-2 p.S237_splice PDPN_uc001avc.3_Splice_Site_p.R235_splice|PDPN_uc009vob.3_Splice_Site_p.S119_splice|PDPN_uc009voc.3_Splice_Site_p.S119_splice|PDPN_uc001ave.3_Splice_Site_p.R117_splice|PDPN_uc001avf.3_Splice_Site_p.S119_splice NM_006474 NP_001006625 Q86YL7 PDPN_HUMAN Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA. 161 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CTATTTTCACAGGCCCTAAAG 0.478000 3 83 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5468544 5468544 + Missense_Mutation SNP A A C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr4:5468544A>C uc003gih.1 + 9 1088 c.1024A>C c.(1024-1026)Aag>Cag p.K342Q STK32B_uc010ida.1_Missense_Mutation_p.K295Q NM_018401 NP_060871 Q9NY57 ST32B_HUMAN Homo sapiens serine/threonine kinase 32B (STK32B), mRNA. 342 K -> T (in dbSNP:rs55961955). ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 GGATGGCACAAAGGACAGCTG 0.502000 3 40 0 0 1 0 0 RGL2 5863 broad.mit.edu 37 6 33263171 33263171 + Missense_Mutation SNP G G A TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr6:33263171G>A uc003odv.3 - 7 1609 c.1049C>T c.(1048-1050)tCa>tTa p.S350L RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Missense_Mutation_p.S268L|RGL2_uc011drb.2_Missense_Mutation_p.S268L NM_004761 NP_001230667 O15211 RGL2_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA. 350 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GGCATAAACTGAAGAGAAGTT 0.602000 5 6 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29454710 29454710 + Missense_Mutation SNP T T C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr6:29454710T>C uc011dlq.2 - 0 970 c.970A>G c.(970-972)Agg>Ggg p.R324G NM_052967 NP_443199 P35410 MAS1L_HUMAN Homo sapiens MAS1 oncogene-like (MAS1L), mRNA. 324 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.R324G(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 TCCTTCAGCCTTTTCTTTCTG 0.463000 3 127 0 0 1 0 0 OTUB1 55611 broad.mit.edu 37 11 63764532 63764532 + Missense_Mutation SNP T T C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr11:63764532T>C uc001nyg.1 + 4 1246 c.563T>C c.(562-564)cTg>cCg p.L188P OTUB1_uc001nyf.1_Missense_Mutation_p.L145P|OTUB1_uc010rna.1_Missense_Mutation_p.L154P|OTUB1_uc009ypb.1_Missense_Mutation_p.L115P Q96FW1 OTUB1_HUMAN Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 2, non-coding RNA. 145 OTU. protein K48-linked deubiquitination cytoplasm NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 6 TTCATGGACCTGATTGAGCAG 0.617000 3 84 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3127744 3127744 + Missense_Mutation SNP A A T TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr12:3127744A>T uc010sej.2 + 6 809 c.517A>T c.(517-519)Acg>Tcg p.T173S TEAD4_uc010sek.2_Missense_Mutation_p.T130S|TEAD4_uc001qln.3_Missense_Mutation_p.T44S NM_201443 NP_958851 Q15561 TEAD4_HUMAN Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA. 173 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CCAAGCCGGAACGTCCCATGA 0.582000 18 45 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475419 120475419 + Missense_Mutation SNP T T C TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr9:120475419T>C uc004bjz.3 + 2 1304 c.1013T>C c.(1012-1014)gTt>gCt p.V338A TLR4_uc004bkb.3_Missense_Mutation_p.V138A|TLR4_uc004bka.3_Missense_Mutation_p.V298A NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 338 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTAGAATTAGTTAACTGTAAA 0.338000 14 60 0 0 1 0 0 TUBB4B 10383 broad.mit.edu 37 9 140137041 140137041 + Missense_Mutation SNP C C G TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr9:140137041C>G uc004cmh.1 + 3 473 c.371C>G c.(370-372)gCt>gGt p.A124G TUBB4B_uc004cmg.1_5'UTR NM_006088 NP_006079 P68371 TBB2C_HUMAN Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA. 124 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding AGAAAGGAGGCTGAGAGCTGT 0.617000 26 46 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67231729 67231729 + Frame_Shift_Del DEL A A - TCGA-DE-A2OL-01A-11D-A18F-08 TCGA-DE-A2OL-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc812906-d3b6-4210-a842-96f095280cbf 385b3242-e4b2-4574-9289-48b8826ae644 g.chr18:67231729delA uc002lkl.3 + 1 270 c.73delA c.(73-75)agafs p.R25fs NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN Homo sapiens docking protein 6 (DOK6), mRNA. 25 PH. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TCAGATTTTCAGACGATGCTG 0.328 18 23 --- --- --- ---