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 ATP2C2 9914 broad.mit.edu 37 16 84456271 84456271 + Missense_Mutation SNP G G A TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr16:84456271G>A uc010chj.3 + 8 900 c.811G>A c.(811-813)Gga>Aga p.G271R ATP2C2_uc002fhx.3_Missense_Mutation_p.G271R|ATP2C2_uc002fhy.3_Missense_Mutation_p.G288R|ATP2C2_uc002fhz.3_Missense_Mutation_p.G120R NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 271 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CTCTCAGTTCGGAGAAGTGTT 0.502000 31 259 0 0 1 0 0 EIF2S2 8894 broad.mit.edu 37 20 32677564 32677564 + Missense_Mutation SNP C C G TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr20:32677564C>G uc002xaf.3 - 8 1143 c.974G>C c.(973-975)cGa>cCa p.R325P NM_003908 NP_003899 P20042 IF2B_HUMAN Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA. 325 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 GAGCTGTGCTCGCTTGCCCGT 0.473000 25 42 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44104811 44104811 + Missense_Mutation SNP C C A TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr2:44104811C>A uc002rtq.3 + 11 1958 c.1868C>A c.(1867-1869)gCg>gAg p.A623E ABCG8_uc010yoa.2_Missense_Mutation_p.A622E NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 623 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTCACCATCGCGGTCTCAGGA 0.498000 OREG0014582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 71 0 0 1 0 0 PRDX5 25824 broad.mit.edu 37 11 64085693 64085693 + Silent SNP A A C TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr11:64085693A>C uc001nzu.3 + 0 134 c.6A>C c.(4-6)ggA>ggC p.G2G TRMT112_uc001nzt.3_5'Flank|PRDX5_uc001nzv.3_Silent_p.G2G|PRDX5_uc001nzw.3_Silent_p.G2G NM_012094 NP_036226 P30044 PRDX5_HUMAN Homo sapiens peroxiredoxin 5 (PRDX5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 2 cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1)|kidney(1)|lung(1)|skin(1) 4 Auranofin(DB00995) CGGGTATGGGACTAGCTGGCG 0.697000 11 20 0 0 1 0 0 PANX2 56666 broad.mit.edu 37 22 50615510 50615510 + Silent SNP C C T TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr22:50615510C>T uc003bjn.4 + 1 369 c.369C>T c.(367-369)ttC>ttT p.F123F PANX2_uc003bjp.4_5'UTR|PANX2_uc003bjo.4_Silent_p.F123F NM_052839 NP_443071 Q96RD6 PANX2_HUMAN Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA. 123 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) AGCACAAGTTCCTGCCCTACG 0.697000 8 14 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870661 51870661 + Missense_Mutation SNP G G A rs141167641 by1000genomes TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr20:51870661G>A uc002xwo.3 + 1 1551 c.664G>A c.(664-666)Gcg>Acg p.A222T TSHZ2_uc021wex.1_Missense_Mutation_p.A219T NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 222 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A222T(2)|p.A222V(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACAGTGCAGCGCGGCCTATGA 0.562000 10 29 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288474 74288474 + Silent SNP C C T TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr17:74288474C>T uc002jrd.1 - 3 2016 c.1836G>A c.(1834-1836)caG>caA p.Q612Q QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN Homo sapiens glutamine rich 2 (QRICH2), mRNA. 612 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCAAACCATGCTGATCCACTC 0.537000 3 57 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555009 178555009 + Silent SNP G G A TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr5:178555009G>A uc003mjw.3 - 16 2670 c.2568C>T c.(2566-2568)taC>taT p.Y856Y NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 856 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Y856Y(2) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGGCCCACTCGTAGACCACAG 0.582000 60 63 0 0 1 0 0 RRP8 23378 broad.mit.edu 37 11 6622217 6622217 + Missense_Mutation SNP G G A TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr11:6622217G>A uc001med.3 - 3 1134 c.986C>T c.(985-987)cCt>cTt p.P329L ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA. 329 P -> S (in dbSNP:rs17834692). chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 GCAATGCACAGGGTTCCGGAT 0.547000 7 75 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62995030 62995030 + Missense_Mutation SNP G G C TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr15:62995030G>C uc002alb.4 + 15 1971 c.1971G>C c.(1969-1971)caG>caC p.Q657H NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 657 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TTCTGAGACAGATTGGAGAGA 0.468000 29 31 0 0 1 0 0 C16orf48 84080 broad.mit.edu 37 16 67697198 67697198 + Missense_Mutation SNP C C T rs138813287 byFrequency TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr16:67697198C>T uc002etw.1 - 6 1190 c.907G>A c.(907-909)Gta>Ata p.V303I ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.V185I NM_032140 NP_115516 Q9H0I2 CP048_HUMAN Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA. 303 microtubule cytoskeleton protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 10 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCAGCAGTACCAGCTCACGC 0.652000 28 92 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9388617 9388617 + Silent SNP A A G TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr20:9388617A>G uc021wam.1 + 17 1680 c.1665A>G c.(1663-1665)gtA>gtG p.V555V PLCB4_uc010gbw.1_Silent_p.V555V|PLCB4_uc010gbx.3_Silent_p.V567V|PLCB4_uc021wal.1_Silent_p.V555V|PLCB4_uc002wnh.3_Silent_p.V402V NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 555 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATAAATATGTAGGTGCTACCA 0.428000 3 141 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1206720 1206720 + Missense_Mutation SNP G G A TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr4:1206720G>A uc003gcw.3 - 7 1285 c.1120C>T c.(1120-1122)Ctc>Ttc p.L374F AX747592_uc003gcs.1_Intron|CTBP1_uc003gcu.1_Missense_Mutation_p.L363F|CTBP1_uc003gcv.1_Missense_Mutation_p.L374F NM_001328 NP_001319 Q13363 CTBP1_HUMAN Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA. 374 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GCCCCATTGAGCTCAGGGTGC 0.662000 3 63 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178269183 178269183 + Silent SNP G G A TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr1:178269183G>A uc001glq.3 + 2 1151 c.387G>A c.(385-387)ctG>ctA p.L129L RASAL2_uc009wxb.2_Silent_p.L129L NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 0 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GGCGATGCCTGAGGAGAACTG 0.473000 OREG0014010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 84 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37838730 37838730 + Silent SNP G G A TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr14:37838730G>A uc001wud.3 + 11 1479 c.837G>A c.(835-837)cgG>cgA p.R279R MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.4_Silent_p.R248R|MIPOL1_uc010ams.3_Silent_p.R279R|MIPOL1_uc001wuc.3_Silent_p.R279R|MIPOL1_uc001wue.3_Silent_p.R248R|MIPOL1_uc010amt.3_Silent_p.R98R NM_001195297 NP_001182226 Q8TD10 MIPO1_HUMAN Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA. 279 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) AGTGCAAACGGTTAGAGCAGG 0.393000 3 42 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 27 35 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72946042 72946042 + Missense_Mutation SNP A A G TCGA-FE-A231-01A-11D-A14W-08 TCGA-FE-A231-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx be4d3229-23af-4a01-a8b3-264c22703ea4 f97453ea-688f-4bb3-959d-cc42cf32e2b7 g.chr8:72946042A>G uc003xza.3 - 22 2880 c.2705T>C c.(2704-2706)tTg>tCg p.L902S LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA. 902 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TATAGAAAGCAATGGAGAGCT 0.393000 14 26 0 0 1 0 0