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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut EML3 256364 broad.mit.edu 37 11 62373575 62373575 + Missense_Mutation SNP A A C TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr11:62373575A>C uc001ntu.1 - 13 1924 c.1616T>G c.(1615-1617)GTA>GGA p.V539G EML3_uc001ntr.1_Missense_Mutation_p.V511G|EML3_uc001nts.1_Missense_Mutation_p.V511G|EML3_uc001ntt.1_Missense_Mutation_p.V423G|EML3_uc010rly.1_Missense_Mutation_p.V539G|EML3_uc009yny.1_Missense_Mutation_p.V322G NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 539 WD 5. cytoplasm|microtubule protein binding ovary(1) 1 CCCCCACTGTACCAGCCGGCG 0.647 NA 12 70 0 0 0 0 NEDD1 121441 broad.mit.edu 37 12 97331069 97331069 + Missense_Mutation SNP G G A TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr12:97331069G>A uc001teu.3 + 9 1354 c.1015G>A c.(1015-1017)GGA>AGA p.G339R NEDD1_uc001tev.3_Missense_Mutation_p.G339R|NEDD1_uc010svc.1_Missense_Mutation_p.G250R|NEDD1_uc001tew.2_Missense_Mutation_p.G346R|NEDD1_uc001tex.2_Missense_Mutation_p.G250R NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 339 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 TCAGAATTCCGGAATTGTCAG 0.428 NA 4 64 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18846419 18846419 + Missense_Mutation SNP T T G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr16:18846419T>G uc002dfm.2 - 49 8488 c.8125A>C c.(8125-8127)ACC>CCC p.T2709P SMG1_uc010bwb.2_Missense_Mutation_p.T2569P|SMG1_uc010bwa.2_Missense_Mutation_p.T1440P NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2709 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 CGCTGCAGGGTCATTTCAGTG 0.443 NA 4 121 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr18:14513764C>T uc010dln.2 - 10 1884 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 477 skin(3) 3 AAGTTGTTTCCGGGTATCATT 0.358 NA 3 30 0 0 0 0 OR7G2 390882 broad.mit.edu 37 19 9213904 9213904 + Missense_Mutation SNP G G T TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr19:9213904G>T uc010xkk.1 - 1 79 c.79C>A c.(79-81)CAA>AAA p.Q27K NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATAGCTGTTTGGTTTCTCGCT 0.358 NA 3 59 6.4e-05 6.98e-05 1 0 TRPM4 54795 broad.mit.edu 37 19 49705272 49705272 + Missense_Mutation SNP A A C TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr19:49705272A>C uc002pmw.2 + 20 3077 c.3005A>C c.(3004-3006)CAC>CCC p.H1002P TRPM4_uc010emu.2_Missense_Mutation_p.H857P|TRPM4_uc010yak.1_Missense_Mutation_p.H466P|TRPM4_uc002pmx.2_Missense_Mutation_p.H828P|TRPM4_uc010emv.2_Missense_Mutation_p.H887P|TRPM4_uc010yal.1_Missense_Mutation_p.H648P|TRPM4_uc002pmy.2_Missense_Mutation_p.H344P NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 1002 Extracellular (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TTCTGGGCACACCCTCCTGGG 0.627 NA 7 86 0 0 0 0 NCKAP1 10787 broad.mit.edu 37 2 183888621 183888621 + Silent SNP T T C TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr2:183888621T>C uc002upc.2 - 2 534 c.132A>G c.(130-132)AAA>AAG p.K44K NCKAP1_uc002upb.2_Silent_p.K50K NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 44 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GATAGGATGGTTTTGCCTTGG 0.353 NA 5 109 0 0 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647850 121647850 + Missense_Mutation SNP C C G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr3:121647850C>G uc003eep.2 + 16 1516 c.1363C>G c.(1363-1365)CTG>GTG p.L455V SLC15A2_uc011bjn.1_Missense_Mutation_p.L424V NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 455 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CTATTCCAAACTGCACCTGAA 0.403 NA 4 106 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169122871 169122871 + Missense_Mutation SNP G G A TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr5:169122871G>A uc003maf.2 + 10 988 c.908G>A c.(907-909)GGC>GAC p.G303D DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 303 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCCGGGTCGGCAAGATGGAT 0.463 NA 4 59 0 0 0 0 OR12D2 26529 broad.mit.edu 37 6 29365004 29365004 + Silent SNP C C G TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr6:29365004C>G uc003nmf.3 + 1 589 c.528C>G c.(526-528)CTC>CTG p.L176L NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATCATTTTCTCTGTGATATTA 0.483 NA 5 114 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579441 7579453 + Frame_Shift_Del DEL CGGTGTAGGAGCT CGGTGTAGGAGCT - TCGA-CN-6017-01A-11D-1683-08 TCGA-CN-6017-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7cd89cbe-6bd9-41a2-a042-345fa0a09866 df3b1467-ca2e-4e97-992d-6ab6a4aea441 g.chr17:7579441_7579453delCGGTGTAGGAGCT uc002gim.2 - 4 428_440 c.234_246delAGCTCCTACACCG c.(232-246)GCAGCTCCTACACCGfs p.A78fs TP53_uc002gig.1_Frame_Shift_Del_p.A78fs|TP53_uc002gih.2_Frame_Shift_Del_p.A78fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.A78fs|TP53_uc010cni.1_Frame_Shift_Del_p.A78fs|TP53_uc002gij.2_Frame_Shift_Del_p.A78fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.A39fs|TP53_uc010cnk.1_Frame_Shift_Del_p.A93fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 78_82 Interaction with WWOX.|Interaction with HRMT1L2. P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> S (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.P82L(5)|p.A76_S90del15(3)|p.G59fs*23(3)|p.T81I(2)|p.A78V(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.P80L(1)|p.A79V(1)|p.A79_A88del10(1)|p.P82fs*43(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.P82fs*67(1)|p.P80fs*41(1)|p.P82P(1)|p.P80fs*43(1)|p.A83fs*91(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) CAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAG 0.61 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) 7 98 --- --- --- --- NA NA NA NA