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 GPATCH8 23131 broad.mit.edu 37 17 42475015 42475015 + Missense_Mutation SNP G G C TCGA-EL-A3CZ-01A-11D-A19J-08 TCGA-EL-A3CZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c1a1a4-82e1-485a-afce-cafaed57945f 15fb2f33-0687-4679-b3b1-2244f979c0a7 g.chr17:42475015G>C uc002igw.2 - 7 4649 c.4430C>G c.(4429-4431)aCt>aGt p.T1477S GPATCH8_uc002igv.2_Missense_Mutation_p.T1399S|GPATCH8_uc010wiz.2_Missense_Mutation_p.T1399S NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 1477 Poly-Ala. intracellular nucleic acid binding|zinc ion binding p.A1474_A1478delAAATA(2) breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GTGAAGTGCAGTGGCAGCTGC 0.612000 9 20 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EL-A3CZ-01A-11D-A19J-08 TCGA-EL-A3CZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c1a1a4-82e1-485a-afce-cafaed57945f 15fb2f33-0687-4679-b3b1-2244f979c0a7 g.chr11:533874T>C uc001lpv.3 - 2 370 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 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). Ras protein signal transduction|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|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1) 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) 32 46 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231411916 231411916 + Missense_Mutation SNP C C T TCGA-EL-A3CZ-01A-11D-A19J-08 TCGA-EL-A3CZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c1a1a4-82e1-485a-afce-cafaed57945f 15fb2f33-0687-4679-b3b1-2244f979c0a7 g.chr1:231411916C>T uc001hup.4 + 14 2179 c.1973C>T c.(1972-1974)gCc>gTc p.A658V GNPAT_uc009xfp.3_Missense_Mutation_p.A597V NM_014236 NP_055051 O15228 GNPAT_HUMAN Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA. 658 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) AATGAACCTGCCACAACCAAA 0.274000 4 17 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79707237 79707237 + Missense_Mutation SNP G G A TCGA-EL-A3CZ-01A-11D-A19J-08 TCGA-EL-A3CZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c1a1a4-82e1-485a-afce-cafaed57945f 15fb2f33-0687-4679-b3b1-2244f979c0a7 g.chr6:79707237G>A uc003pir.3 - 18 2321 c.2095C>T c.(2095-2097)Cgg>Tgg p.R699W PHIP_uc011dyp.2_Missense_Mutation_p.R699W NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA. 699 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding p.V698E(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TGCATTTGCCGTACACCTTCA 0.468000 31 55 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103292735 103292735 + Silent SNP C C T TCGA-EL-A3CZ-01A-11D-A19J-08 TCGA-EL-A3CZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c1a1a4-82e1-485a-afce-cafaed57945f 15fb2f33-0687-4679-b3b1-2244f979c0a7 g.chr10:103292735C>T uc001kta.3 + 8 1118 c.1005C>T c.(1003-1005)tgC>tgT p.C335C BTRC_uc001ktb.3_Silent_p.C299C|BTRC_uc001ktc.3_Silent_p.C309C NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA. 335 Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction SCF ubiquitin ligase complex|cytosol|nucleus endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CATTGGAATGCAAGCGAATTC 0.438000 6 90 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204304820 204304821 + Frame_Shift_Ins INS - - T TCGA-EL-A3CZ-01A-11D-A19J-08 TCGA-EL-A3CZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c1a1a4-82e1-485a-afce-cafaed57945f 15fb2f33-0687-4679-b3b1-2244f979c0a7 g.chr2:204304820_204304821insT uc002vad.3 - 13 3317_3318 c.3092_3093insA c.(3091-3093)aatfs p.N1031fs NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA. 1031 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTCCAGAAAGATTGAGTTTTCC 0.545 39 66 --- --- --- ---