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 TBX20 57057 broad.mit.edu 37 7 35280519 35280519 + Missense_Mutation SNP G G A TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr7:35280519G>A uc011kas.2 - 4 1265 c.785C>T c.(784-786)aCg>aTg p.T262M NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA. 262 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AGTGACTGCCGTAAAAACTGT 0.403000 28 42 0 0 1 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100865924 100865924 + Missense_Mutation SNP G G A TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr7:100865924G>A uc003uye.3 + 1 554 c.62G>A c.(61-63)cGg>cAg p.R21Q ZNHIT1_uc003uyf.3_Non-coding_Transcript NM_006349 NP_006340 O43257 ZNHI1_HUMAN Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA. 21 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) GTGCTGGACCGGGCTGCCCGG 0.667000 3 97 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236957789 236957789 + Silent SNP C C A TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr2:236957789C>A uc002vvs.3 + 15 2576 c.1978C>A c.(1978-1980)Cga>Aga p.R660R AGAP1_uc002vvt.3_Silent_p.R607R NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 660 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCACCTTTCCCGAGTCCGATC 0.567000 3 116 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 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) 62 79 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499763 31499763 + Missense_Mutation SNP T T G TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr16:31499763T>G uc002ecf.4 + 8 1100 c.1081T>G c.(1081-1083)Tgc>Ggc p.C361G SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 361 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GGAGGTGGGCTGCTCCAACAT 0.711000 12 5 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77073871 77073871 + Missense_Mutation SNP G G A TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr17:77073871G>A uc002jwv.3 + 2 349 c.341G>A c.(340-342)cGc>cAc p.R114H ENGASE_uc002jwu.1_Missense_Mutation_p.R114H|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 114 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity p.R114L(2)|p.R114C(1) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CTGGCGTGTCGCCAGCCCCCT 0.582000 27 46 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196577366 196577366 + Missense_Mutation SNP T T C TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr1:196577366T>C uc001gtd.1 - 0 134 c.74A>G c.(73-75)cAa>cGa p.Q25R KCNT2_uc001gte.1_Missense_Mutation_p.Q25R|KCNT2_uc001gtf.1_Missense_Mutation_p.Q25R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.Q25R|KCNT2_uc009wyv.1_Missense_Mutation_p.Q25R NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 25 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTGCCATCCTTGGTCCCCTAG 0.512000 3 148 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36558892 36558892 + Nonsense_Mutation SNP G G T TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr19:36558892G>T uc002odd.2 + 6 953 c.862G>T c.(862-864)Gag>Tag p.E288* WDR62_uc002odc.2_Nonsense_Mutation_p.E288*|WDR62_uc002odb.2_Nonsense_Mutation_p.E288* NM_001083961 NP_001077430 O43379 WDR62_HUMAN Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA. 288 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAGGGTGCTGGAGAAGTGGAT 0.577000 7 39 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110830543 110830543 + Missense_Mutation SNP C C T TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr13:110830543C>T uc001vqw.4 - 31 2616 c.2494G>A c.(2494-2496)Gga>Aga p.G832R NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 832 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCAGGGAATCCGGGGAAACCC 0.517000 6 155 0 0 1 0 0 ANP32C 23520 broad.mit.edu 37 4 165118489 165118489 + Silent SNP G G A TCGA-DJ-A13M-01A-11D-A10S-08 TCGA-DJ-A13M-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f90e2ec-b98e-463d-bf42-c4ec3ad0dc12 f91253d1-45d5-43b4-8cc7-de0ffa145b46 g.chr4:165118489G>A uc011cjk.2 - 0 375 c.375C>T c.(373-375)aaC>aaT p.N125N MARCH1_uc003iqs.2_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA. 125 NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4) 35 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) CTCCGTAGTCGTTCAGGTTGG 0.458000 66 117 0 0 1 0 0