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 OSMR 9180 broad.mit.edu 37 5 38925336 38925336 + Missense_Mutation SNP A A G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr5:38925336A>G uc003jln.2 + 14 2477 c.2075A>G c.(2074-2076)gAc>gGc p.D692G OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 692 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TACAAAATTGACAACCCGGAA 0.348000 3 82 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54603138 54603138 + Splice_Site SNP T T C TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr18:54603138T>C uc002lgk.1 + 23 4042 c.3831_splice c.e23+2 p.E1277_splice WDR7_uc002lgl.1_Splice_Site_p.E1244_splice NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 1277 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GCCAAAGAGGTGAGCGGAACT 0.517000 10 90 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233744290 233744290 + Missense_Mutation SNP A A G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr2:233744290A>G uc002vts.2 - 14 2290 c.2042T>C c.(2041-2043)cTc>cCc p.L681P NGEF_uc010zmm.1_Missense_Mutation_p.L404P|NGEF_uc010fyg.1_Missense_Mutation_p.L589P NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 681 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACATTCCTTGAGGTTCTGGGA 0.592000 4 113 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39279800 39279800 + Missense_Mutation SNP C C T TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr17:39279800C>T uc002hwa.3 - 0 620 c.575G>A c.(574-576)cGc>cAc p.R192H NM_031854 NP_114060 Q9BQ66 KR412_HUMAN Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA. 192 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACAAGGGGCGGGGGCAGGT 0.572000 6 17 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103141530 103141530 + Missense_Mutation SNP G G T TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr2:103141530G>T uc002tbz.4 + 9 2323 c.1866G>T c.(1864-1866)aaG>aaT p.K622N NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 622 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CAAGTGAGAAGCAGGCTAAAG 0.498000 8 209 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95556886 95556886 + Missense_Mutation SNP T T G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr14:95556886T>G uc001ydw.2 - 27 5930 c.5718A>C c.(5716-5718)agA>agC p.R1906S DICER1_uc010avh.1_Missense_Mutation_p.R804S|DICER1_uc021sbc.1_3'UTR|DICER1_uc001ydv.2_Missense_Mutation_p.R1896S|DICER1_uc001ydx.2_Missense_Mutation_p.R1906S NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 1906 DRBM. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGAGGGCTCTTCTTGCTGCTG 0.418000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 59 106 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd 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) 55 105 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158505093 158505094 + Missense_Mutation DNP CG CG AT TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr6:158505093_158505094CG>AT uc003qqx.2 + 21 3201_3202 c.3095_3096CG>AT c.(3094-3096)tcg>tAT p.S1032Y SYNJ2_uc003qqw.2_Missense_Mutation_p.S1032Y|SYNJ2_uc003qqy.2_Missense_Mutation_p.S795Y|SYNJ2_uc003qqz.2_Missense_Mutation_p.S649Y|SYNJ2_uc003qra.2_Missense_Mutation_p.S375Y NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 1032 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCTGGAGTCTCGGACAGTGAAC 0.515000 7 302 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227661463 227661463 + Missense_Mutation SNP C C A TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr2:227661463C>A uc002voh.4 - 0 2044 c.1992G>T c.(1990-1992)atG>atT p.M664I IRS1_uc021vxn.1_Missense_Mutation_p.M664I NM_005544 NP_005535 P35568 IRS1_HUMAN Homo sapiens insulin receptor substrate 1 (IRS1), mRNA. 664 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGGGGGACATCATCATGTAGC 0.597000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 97 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3599677 3599677 + Missense_Mutation SNP A A G TCGA-EM-A2CT-01A-11D-A17V-08 TCGA-EM-A2CT-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx c031db9d-3df4-4e30-bd5f-e85ab565782c 9af44b82-f5a6-400d-b9c6-4f00b6a24bdd g.chr1:3599677A>G uc001akp.3 + 2 229 c.119A>G c.(118-120)gAg>gGg p.E40G TP73_uc021ofb.1_Missense_Mutation_p.E40G|TP73_uc021ofc.1_Missense_Mutation_p.E40G|TP73_uc021ofd.1_Missense_Mutation_p.E40G|TP73_uc021ofe.1_Missense_Mutation_p.E40G|TP73_uc021off.1_Missense_Mutation_p.E40G NM_005427 NP_001191121 O15350 P73_HUMAN Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA. 40 Asp/Glu-rich (acidic).|Transactivation (By similarity). 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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GGGAATAATGAGGTGGTGGGC 0.587000 3 115 0 0 1 0 0