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-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f 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) 32 108 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378013 55378013 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr19:55378013G>A uc002qhl.4 + 8 1258 c.1195G>A c.(1195-1197)Gca>Aca p.A399T KIR3DL2_uc002qho.4_Missense_Mutation_p.A399T|KIR3DL2_uc010esh.3_Missense_Mutation_p.A382T P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 399 cellular defense response|regulation of immune response integral to plasma membrane receptor activity p.Y398N(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGTGACGTACGCACAGTTGGA 0.502000 12 246 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74039961 74039961 + Silent SNP T T C TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr17:74039961T>C uc002jqk.1 - 12 1508 c.1473A>G c.(1471-1473)aaA>aaG p.K491K SRP68_uc010wsu.1_Silent_p.K390K|SRP68_uc002jql.1_Silent_p.K453K|SRP68_uc002jqj.1_Silent_p.K152K NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN Homo sapiens signal recognition particle 68kDa (SRP68), mRNA. 491 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CATTTGCATATTTCAGGACTC 0.488000 12 28 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62730072 62730072 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr20:62730072G>A uc002yic.3 + 4 1452 c.1033G>A c.(1033-1035)Gtg>Atg p.V345M OPRL1_uc002yid.3_Missense_Mutation_p.V345M|OPRL1_uc021wgs.1_Missense_Mutation_p.V345M|OPRL1_uc002yif.4_Missense_Mutation_p.V340M NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 345 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane X-opioid receptor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GGACGTGCAGGTGTCTGACCG 0.637000 23 55 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 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) 32 108 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378013 55378013 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr19:55378013G>A uc002qhl.4 + 8 1258 c.1195G>A c.(1195-1197)Gca>Aca p.A399T KIR3DL2_uc002qho.4_Missense_Mutation_p.A399T|KIR3DL2_uc010esh.3_Missense_Mutation_p.A382T P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 399 cellular defense response|regulation of immune response integral to plasma membrane receptor activity p.Y398N(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGTGACGTACGCACAGTTGGA 0.502000 12 246 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74039961 74039961 + Silent SNP T T C TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr17:74039961T>C uc002jqk.1 - 12 1508 c.1473A>G c.(1471-1473)aaA>aaG p.K491K SRP68_uc010wsu.1_Silent_p.K390K|SRP68_uc002jql.1_Silent_p.K453K|SRP68_uc002jqj.1_Silent_p.K152K NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN Homo sapiens signal recognition particle 68kDa (SRP68), mRNA. 491 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CATTTGCATATTTCAGGACTC 0.488000 12 28 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62730072 62730072 + Missense_Mutation SNP G G A TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr20:62730072G>A uc002yic.3 + 4 1452 c.1033G>A c.(1033-1035)Gtg>Atg p.V345M OPRL1_uc002yid.3_Missense_Mutation_p.V345M|OPRL1_uc021wgs.1_Missense_Mutation_p.V345M|OPRL1_uc002yif.4_Missense_Mutation_p.V340M NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 345 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane X-opioid receptor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GGACGTGCAGGTGTCTGACCG 0.637000 23 55 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50876653 50876655 + In_Frame_Del DEL TGA TGA - TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce 0fb3fafc-65a4-4492-90eb-5f3c0238b58f g.chr22:50876653_50876655delTGA uc003blb.2 + 18 2312_2314 c.1890_1892delTGA c.(1888-1893)tttgat>ttt p.D633del PPP6R2_uc003blc.3_In_Frame_Del_p.D633del|PPP6R2_uc003bky.2_In_Frame_Del_p.D606del|PPP6R2_uc003bla.2_In_Frame_Del_p.D607del|PPP6R2_uc003bkz.2_In_Frame_Del_p.D606del|PPP6R2_uc003bld.2_In_Frame_Del_p.D165del NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 633 D -> E (in dbSNP:rs11555194). cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TCCAGCCCTTTGATGATGATGAG 0.616 55 93 --- --- --- --- PPP6R2 9701 broad.mit.edu 37 22 50876653 50876655 + In_Frame_Del DEL TGA TGA - TCGA-BJ-A45D-01A-11D-A23U-08 TCGA-BJ-A45D-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8e8f132-db25-43c9-a475-df9fdae46dce e9c01424-61d6-4688-a647-3d289bfb6a72 g.chr22:50876653_50876655delTGA uc003blb.2 + 18 2312_2314 c.1890_1892delTGA c.(1888-1893)tttgat>ttt p.D633del PPP6R2_uc003blc.3_In_Frame_Del_p.D633del|PPP6R2_uc003bky.2_In_Frame_Del_p.D606del|PPP6R2_uc003bla.2_In_Frame_Del_p.D607del|PPP6R2_uc003bkz.2_In_Frame_Del_p.D606del|PPP6R2_uc003bld.2_In_Frame_Del_p.D165del NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 633 D -> E (in dbSNP:rs11555194). cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TCCAGCCCTTTGATGATGATGAG 0.616 55 93 --- --- --- ---