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 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 15 42 0 0 5.01169e-05 0 0 CLDN7 1366 broad.mit.edu 37 17 7163815 7163815 + Missense_Mutation SNP A A C TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr17:7163815A>C ENST00000360325.7 - 4 948 c.514T>G c.(514-516)Tct>Gct p.S172A CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_Silent_p.G143G NM_001307.5 NP_001298.3 O95471 CLD7_HUMAN claudin 7 172 calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity p.S172A(1) kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 ACTAGGGCAGACCCTGCCCAG 0.572000 4 4 0 0 8.12818e-05 0 0 DSTYK 25778 broad.mit.edu 37 1 205128809 205128809 + Splice_Site SNP T T G TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr1:205128809T>G ENST00000367162.3 - 9 2136 c.e9-2 DSTYK_ENST00000367161.3_Splice_Site|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 GGCAGAGACCTGGAGGGAAGG 0.498000 8 22 0 0 3.86212e-05 0 0 TRPV5 56302 broad.mit.edu 37 7 142606711 142606711 + Missense_Mutation SNP G G A TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr7:142606711G>A ENST00000265310.1 - 14 2188 c.1840C>T c.(1840-1842)Cct>Tct p.P614S NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 614 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCGGAGCGAGGCCACAGGCAG 0.592000 10 30 0 0 0.00010058 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439634 51439634 + Missense_Mutation SNP G G A TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr1:51439634G>A ENST00000262662.1 + 4 2233 c.199G>A c.(199-201)Gac>Aac p.D67N CDKN2C_ENST00000396148.1_Missense_Mutation_p.D67N|CDKN2C_ENST00000371761.3_Missense_Mutation_p.D67N P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 67 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) CGATTTGAAAGACCGAACTGG 0.448000 D """glioma, MM""" 30 50 0 0 0.000227799 0 0 LARS 51520 broad.mit.edu 37 5 145524092 145524092 + Missense_Mutation SNP T T C TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr5:145524092T>C ENST00000394434.2 - 17 1764 c.1598A>G c.(1597-1599)gAt>gGt p.D533G LARS_ENST00000510191.1_Missense_Mutation_p.D479G|LARS_ENST00000545646.1_Missense_Mutation_p.D487G|LARS_ENST00000274562.9_Missense_Mutation_p.D506G NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 533 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TTCTCCATAATCCAAGTACCT 0.388000 30 56 0 0 0.000227799 0 0 CD163L1 283316 broad.mit.edu 37 12 7520684 7520684 + Splice_Site SNP T T A TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr12:7520684T>A ENST00000313599.3 - 17 4239 c.4183_splice c.e17+1 p.R1394_splice CD163L1_ENST00000396630.1_Splice_Site_p.R1394_splice|CD163L1_ENST00000416109.2_Splice_Site_p.R1404_splice Q9NR16 C163B_HUMAN CD163 molecule-like 1 1394 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GGCTCTCACCTCTGAGGGGCA 0.463000 17 45 0 0 0.000175454 0 0 PLXNB2 23654 broad.mit.edu 37 22 50727260 50727260 + Missense_Mutation SNP G G C TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr22:50727260G>C ENST00000449103.1 - 5 1432 c.1292C>G c.(1291-1293)tCt>tGt p.S431C PLXNB2_ENST00000359337.4_Missense_Mutation_p.S431C O15031 PLXB2_HUMAN plexin B2 431 Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CACAAGGATAGAGTCGTACTC 0.612000 4 7 0 0 3.59834e-05 0 0 FAF2 23197 broad.mit.edu 37 5 175921248 175921248 + Frame_Shift_Del DEL C C - TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr5:175921248delC ENST00000261942.6 + 7 686 c.633delC c.(631-633)tgfs p.C211fs NM_014613.2 NP_055428.1 Q96CS3 FAF2_HUMAN Fas associated factor family member 2 211 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 TCTGGGCATGCTCTACAAACA 0.413 30 72 --- --- --- --- DUOX2 50506 broad.mit.edu 37 15 45399037 45399037 + Frame_Shift_Del DEL A A - TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr15:45399037delA ENST00000389039.6 - 15 2209 c.1824delT c.(1822-1824)ctfs p.L608fs DUOX2_ENST00000603300.1_Frame_Shift_Del_p.L608fs Q9NRD8 DUOX2_HUMAN dual oxidase 2 608 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CACCTAAGGGAAGGCAGCAGA 0.582 2 4 --- --- --- --- RP1-85F18.5 0 broad.mit.edu 37 22 41586193 41586194 + RNA DEL AA AA - rs150908685 TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chr22:41586193_41586194delAA ENST00000420537.1 - 0 223 CTTCAAAGGCaaaaaaaaaaaa 0.411 2 4 --- --- --- --- PHKA2 5256 broad.mit.edu 37 X 18926165 18926172 + Frame_Shift_Del DEL GCTGGGAC GCTGGGAC - rs138395800 byFrequency TCGA-DJ-A2QB-01A-11D-A19J-08 TCGA-DJ-A2QB-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1584fb00-5b1c-4b75-89d8-e9504b8bc989 5e27ef92-19e3-430a-991b-53b55c88baaf g.chrX:18926165_18926172delGCTGGGAC ENST00000379942.4 - 22 3028_3035 c.2363_2370delGTCCCAGC c.(2362-2370)gfs p.GPS788fs NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 788 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TTGTGTCCCAGCTGGGACCCCTGCCAAG 0.524 27 142 --- --- --- ---