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 CEP128 145508 broad.mit.edu 37 14 81371163 81371163 + Missense_Mutation SNP C C A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr14:81371163C>A uc001xux.2 - 4 645 c.474G>T c.(472-474)atG>atT p.M158I CEP128_uc001xuz.2_Missense_Mutation_p.M158I|CEP128_uc001xva.1_Missense_Mutation_p.M158I|CEP128_uc001xuy.1_Missense_Mutation_p.M16I NM_152446 NP_689659 Q6ZU80 CE128_HUMAN Homo sapiens centrosomal protein 128kDa (CEP128), mRNA. 158 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GTACCTGAGTCATATCATCAG 0.378000 3 50 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1490315 1490315 + Missense_Mutation SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr19:1490315G>A uc002ltb.1 - 0 93 c.31C>T c.(31-33)Cgc>Tgc p.R11C PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.2_5'Flank|REEP6_uc002ltc.3_5'Flank NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA. 11 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGACCAGGCGCAGCCACAGC 0.751000 2 1 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19183842 19183842 + Missense_Mutation SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr22:19183842G>A uc021wle.1 - 25 4201 c.4126C>T c.(4126-4128)Ctc>Ttc p.L1376F CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.L1376F|CLTCL1_uc011agw.1_Missense_Mutation_p.L1355F|CLTCL1_uc011agt.2_Missense_Mutation_p.L167F|CLTCL1_uc011agu.2_Missense_Mutation_p.L167F|CLTCL1_uc010grm.1_Missense_Mutation_p.L136F|CLTCL1_uc002zpd.1_Missense_Mutation_p.L283F|CLTCL1_uc002zpe.2_3'UTR NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 1376 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ATCATGGTGAGCACAGCATTG 0.567000 T ? ALCL 3 46 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1843468 1843468 + Missense_Mutation SNP C C A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr4:1843468C>A uc003gdv.3 - 2 497 c.200G>T c.(199-201)gGc>gTc p.G67V LETM1_uc010icc.3_5'Flank|LETM1_uc011bvg.2_Missense_Mutation_p.G67V NM_012318 NP_036450 O95202 LETM1_HUMAN Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA. 67 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) GAGGTGATCGCCTCTGGAGGA 0.552000 7 26 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 39 71 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94641772 94641772 + Missense_Mutation SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr12:94641772G>A uc001tdc.3 + 12 2731 c.2482G>A c.(2482-2484)Gta>Ata p.V828I NM_005761 NP_005752 O60486 PLXC1_HUMAN Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA. 828 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GAAGCTGAGAGTACAAGACAC 0.507000 3 38 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44635831 44635831 + Missense_Mutation SNP A A G TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr19:44635831A>G uc002oyj.1 + 4 1307 c.1064A>G c.(1063-1065)tAt>tGt p.Y355C ZNF225_uc010ejf.1_Missense_Mutation_p.Y355C NM_013362 NP_037494 Q9UK10 ZN225_HUMAN Homo sapiens zinc finger protein 225 (ZNF225), mRNA. 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) CGCTTCATTTATAGGCAAGAT 0.423000 17 29 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160106465 160106465 + Missense_Mutation SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr1:160106465G>A uc001fvc.3 + 18 2801 c.2669G>A c.(2668-2670)cGg>cAg p.R890Q ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 890 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGGGATGACCGGACCATGAAT 0.552000 3 61 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113403801 113403801 + Missense_Mutation SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr12:113403801G>A uc001tug.3 + 11 2743 c.2656G>A c.(2656-2658)Gac>Aac p.D886N NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 886 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CCAGAGTGTGGACTTTGATGT 0.582000 15 18 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111398204 111398204 + Missense_Mutation SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr4:111398204G>A uc003iab.4 + 0 976 c.634G>A c.(634-636)Gga>Aga p.G212R NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 212 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CACGGAGAACGGACAAGTCAA 0.453000 7 32 0 0 1 0 0 RANBP10 57610 broad.mit.edu 37 16 67762359 67762359 + Missense_Mutation SNP T T A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr16:67762359T>A uc002eud.3 - 10 1524 c.1408A>T c.(1408-1410)Atg>Ttg p.M470L RANBP10_uc010ceo.3_Missense_Mutation_p.M241L|RANBP10_uc010vju.2_Missense_Mutation_p.M444L|RANBP10_uc010vjv.2_Missense_Mutation_p.M383L|RANBP10_uc010vjw.1_Missense_Mutation_p.M161L NM_020850 NP_065901 Q6VN20 RBP10_HUMAN Homo sapiens RAN binding protein 10 (RANBP10), mRNA. 470 endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CGTGTGGACATGCTTCCTAGC 0.582000 18 40 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163302758 163302758 + Nonsense_Mutation SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr2:163302758G>A uc002uch.2 - 6 1553 c.1324C>T c.(1324-1326)Cga>Tga p.R442* KCNH7_uc002uci.3_Nonsense_Mutation_p.R435* NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 442 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.R442*(2)|p.R442Q(1)|p.R442P(1)|p.R435*(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CCACATTCTCGTCTTTTCTGT 0.383000 15 16 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14267930 14267930 + Silent SNP G G A TCGA-FY-A3NP-01A-11D-A21A-08 TCGA-FY-A3NP-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d117c65a-9493-4628-9eb0-1450fed1fb4f 7e10e1f6-d078-4e0b-aa0a-4be138ac0a3a g.chr19:14267930G>A uc010xnn.2 - 15 3084 c.2788C>T c.(2788-2790)Ctg>Ttg p.L930L LPHN1_uc010xno.2_Silent_p.L925L|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 930 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAATAGTGCAGCAGGCCGGCG 0.642000 3 30 0 0 1 0 0