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 FCGRT 2217 broad.mit.edu 37 19 50017183 50017183 + Missense_Mutation SNP C C G TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr19:50017183C>G ENST00000221466.5 + 3 604 c.118C>G c.(118-120)Cct>Gct p.P40A FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Missense_Mutation_p.P40A|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.P40A NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 40 Alpha-1. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) GGTGTCCTCGCCTGCCCCGGG 0.657000 60 175 0 0 0.048971 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 45 0 0 0.014758 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43483162 43483162 + Splice_Site SNP A A G TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr15:43483162A>G ENST00000300213.4 + 7 744 c.e7-1 EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Splice_Site NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 cell cycle cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13 all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.42e-07) TTTCACTCATAGATAACAAAG 0.413000 3 63 0 0 0.004672 0 0 ZSCAN32 54925 broad.mit.edu 37 16 3434723 3434723 + Missense_Mutation SNP G G C TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr16:3434723G>C ENST00000396852.4 - 6 1277 c.970C>G c.(970-972)Cgt>Ggt p.R324G LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R324G|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R35G|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R324G|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R35G|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R112G|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R112G zinc finger and SCAN domain containing 32 TCAGGCACACGGCCTCTCCTC 0.542000 10 262 0 0 0.080935 0 0 XRN1 54464 broad.mit.edu 37 3 142037638 142037638 + Silent SNP T T C TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr3:142037638T>C ENST00000264951.4 - 38 4626 c.4509A>G c.(4507-4509)caA>caG p.Q1503Q XRN1_ENST00000392981.2_Silent_p.Q1504Q NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1503 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TTACCAACTGTTGTAAAGCAA 0.363000 16 53 0 0 0.038395 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 6 89 0 0 0.029380 0 0 TMCO2 127391 broad.mit.edu 37 1 40713721 40713721 + Missense_Mutation SNP G G C TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr1:40713721G>C ENST00000372766.3 + 1 149 c.56G>C c.(55-57)aGc>aCc p.S19T TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 19 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CTCTCTCTCAGCACAGTATGG 0.428000 8 283 0 0 0.047766 0 0 DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T T G TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr1:182812436T>G ENST00000367549.3 + 3 229 c.119T>G c.(118-120)gTg>gGg p.V40G NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.V40G(8) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAGGTTCAGGTGGAAGGTTAT 0.333000 5 26 0 0 0.047766 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 59 0 0 0.009096 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059056 47059056 + Silent SNP C C T rs145387351 TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr22:47059056C>T ENST00000406902.1 + 6 799 c.586C>T c.(586-588)Ctg>Ttg p.L196L GRAMD4_ENST00000361034.3_Silent_p.L196L Q6IC98 GRAM4_HUMAN GRAM domain containing 4 196 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AGAGGAACCCCTGAGCGCCCG 0.657000 25 95 0 0 0.099896 0 0 MAP2 4133 broad.mit.edu 37 2 210560830 210560830 + Silent SNP A A G TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr2:210560830A>G ENST00000360351.4 + 7 4442 c.3936A>G c.(3934-3936)gcA>gcG p.A1312A MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.A1308A|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1312 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGCGTTTTGCAGCCCTAGAGC 0.507000 3 130 0 0 0.009096 0 0 GALR3 8484 broad.mit.edu 37 22 38219393 38219393 + Translation_Start_Site SNP A A T TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr22:38219393A>T ENST00000249041.2 + 0 5 NM_003614.1 NP_003605.1 O60755 GALR3_HUMAN galanin receptor 3 feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity endometrium(1)|liver(2)|lung(1) 4 Melanoma(58;0.045) TTCTCTTCCCAGGTGCCCGTC 0.612000 4 96 0 0 0.009096 0 0 OTX1 5013 broad.mit.edu 37 2 63283329 63283329 + Missense_Mutation SNP G G A TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr2:63283329G>A ENST00000366671.3 + 5 1219 c.943G>A c.(943-945)Gac>Aac p.D315N OTX1_ENST00000282549.2_Missense_Mutation_p.D315N NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 315 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CAACTCTGCCGACTGCTTGGA 0.607000 12 60 0 0 0.093190 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 6 68 0 0 0.021553 0 0 AARS2 57505 broad.mit.edu 37 6 44279890 44279890 + Silent SNP C C A TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr6:44279890C>A ENST00000244571.4 - 2 356 c.354G>T c.(352-354)ctG>ctT p.L118L NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 118 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCACATCTTCCAGGTCGTTAT 0.522000 5 151 0.00116845 0.00289774 0.021553 1 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 3 214 0 0 0.004672 0 0 COL1A2 1278 broad.mit.edu 37 7 94055354 94055354 + Missense_Mutation SNP A A T TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr7:94055354A>T ENST00000297268.6 + 45 3459 c.2988A>T c.(2986-2988)agA>agT p.R996S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 996 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTGGCCCAAGAGGTCCTAGTG 0.423000 HNSCC(75;0.22) 6 107 0 0 0.021553 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 63 0 0 0.028581 0 0 ZNF470 388566 broad.mit.edu 37 19 57081740 57081740 + Splice_Site SNP G G A TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr19:57081740G>A ENST00000330619.8 + 3 746 c.60_splice c.e3+1 p.L20_splice ZNF470_ENST00000391709.3_Splice_Site_p.L20_splice|ZNF470_ENST00000601902.1_Splice_Site_p.L20_splice NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CCATGTCCCTGGTGAGTTAGT 0.423000 3 57 0 0 0.004672 0 0 SOCS4 122809 broad.mit.edu 37 14 55510995 55510995 + Silent SNP T T C TCGA-EM-A2P1-06A-11D-A202-08 TCGA-EM-A2P1-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaabd638-cdec-42b7-91f1-fe021c960727 019e120c-aefd-4aa7-a80f-6aa6fea09969 g.chr14:55510995T>C ENST00000395472.2 + 2 1568 c.1236T>C c.(1234-1236)ccT>ccC p.P412P SOCS4_ENST00000555846.1_Silent_p.P412P|SOCS4_ENST00000339298.2_Silent_p.P412P NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 412 SOCS box. intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 TTCCAATTCCTTCTTCTATGA 0.378000 3 77 0 0 0.004672 0 0