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 KDR 3791 broad.mit.edu 37 4 55946325 55946325 + Missense_Mutation SNP A A G TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr4:55946325A>G uc003has.3 - 29 4156 c.3854T>C c.(3853-3855)aTg>aCg p.M1285T KDR_uc003hat.1_Missense_Mutation_p.M1285T NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1285 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCTGGGCACCATTCCACTGCA 0.507000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 8 37 0 0 1 0 0 POFUT2 23275 broad.mit.edu 37 21 46689817 46689817 + Missense_Mutation SNP G G A TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr21:46689817G>A uc002zhc.3 - 6 974 c.949C>T c.(949-951)Cgc>Tgc p.R317C POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Missense_Mutation_p.R317C NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA. 317 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) ATGAGGCTGCGGATCTTCCTC 0.542000 9 55 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927697 55927697 + Missense_Mutation SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr11:55927697C>T uc010rja.2 - 0 97 c.97G>A c.(97-99)Gtc>Atc p.V33I NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AGGTAGATGACGAGGAAGACT 0.433000 19 72 0 0 1 0 0 TMSB15A 11013 broad.mit.edu 37 X 101770045 101770045 + Missense_Mutation SNP G G A TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chrX:101770045G>A uc004eje.3 - 1 170 c.47C>T c.(46-48)tCa>tTa p.S16L NM_021992 NP_919305 P0CG34 TB15A_HUMAN Homo sapiens thymosin beta 15a (TMSB15A), mRNA. 16 actin cytoskeleton organization|sequestering of actin monomers cytoplasm|cytoskeleton actin binding large_intestine(1)|lung(1) 2 CTTCAGTTTTGACCTGTCAAA 0.368000 9 79 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141329142 141329142 + Silent SNP T T C TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr5:141329142T>C uc003llx.3 - 2 4196 c.2985A>G c.(2983-2985)gcA>gcG p.A995A NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN Homo sapiens protocadherin 12 (PCDH12), mRNA. 995 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCTGGGATTGCACTCCTGC 0.493000 16 77 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12183431 12183431 + Silent SNP G G A TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr3:12183431G>A uc003bwm.3 + 5 614 c.450G>A c.(448-450)gtG>gtA p.V150V SYN2_uc003bwl.1_Silent_p.V150V NM_133625 NP_598328 Q86VA8 Q86VA8_HUMAN Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA. 154 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TCAACCTGGTGGCCCATGCAG 0.478000 7 38 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1280291 1280291 + Silent SNP C C T rs148582238 TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr5:1280291C>T uc003jcb.1 - 3 1990 c.1932G>A c.(1930-1932)acG>acA p.T644T TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.T644T|TERT_uc003jca.1_Silent_p.T644T|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.T96T NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 644 Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCTGCGGAACGTTCTGGCTC 0.552000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 6 99 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116045953 116045953 + Missense_Mutation SNP G G C rs147199528 TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr10:116045953G>C uc001lbl.1 + 10 1574 c.1253G>C c.(1252-1254)gGc>gCc p.G418A VWA2_uc001lbk.1_Missense_Mutation_p.G418A|VWA2_uc009xyf.1_Missense_Mutation_p.G114A NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 418 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) TTCCGTGGTGGCCCCACCCTG 0.672000 14 49 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61761114 61761114 + Missense_Mutation SNP G G T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr16:61761114G>T uc002eog.2 - 8 2375 c.1420C>A c.(1420-1422)Cac>Aac p.H474N CDH8_uc002eoh.3_Missense_Mutation_p.H243N NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 474 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATCTGACTGTGGTTCCCTATG 0.398000 14 117 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33777500 33777500 + Silent SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr11:33777500C>T uc001muz.3 - 4 523 c.495G>A c.(493-495)ctG>ctA p.L165L FBXO3_uc010rej.2_5'Flank|FBXO3_uc001muy.3_Silent_p.L52L|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Silent_p.L165L|FBXO3_uc001mvb.1_Silent_p.L160L|FBXO3_uc010rek.1_Intron NM_012175 NP_036307 Q9UK99 FBX3_HUMAN Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA. 165 proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) AGTGATTAGACAGTGCCATGC 0.428000 3 24 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71909724 71909724 + Missense_Mutation SNP C C T TCGA-DE-A4M8-01A-21D-A257-08 TCGA-DE-A4M8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21090199-d43b-4ef6-a376-cb3ca837a2e1 f49ebc02-7d89-4558-809e-5ae294a0559b g.chr2:71909724C>T uc010fen.3 + 54 6379 c.6238C>T c.(6238-6240)Cgg>Tgg p.R2080W DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 2041 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CATCCTGTGGCGGCGTTTCCG 0.582000 12 68 0 0 1 0 0