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 PRSS45 377047 broad.mit.edu 37 3 46784402 46784402 + Splice_Site SNP C C T TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr3:46784402C>T ENST00000442359.2 - 3 453 c.e3+1 PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 CAGAAACTCACATAGCACAAG 0.582000 9 16 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136131300 136131300 + RNA SNP G G C TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr9:136131300G>C ENST00000453660.2 - 0 828 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) CTCTTGCACCGACCCCCCGAA 0.677000 3 18 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17029257 17029257 + RNA SNP T T C rs12125112 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr1:17029257T>C ENST00000492551.1 - 0 1108 NR_026567.1 CATGTAGATGTCAGCTGCCTG 0.657000 5 59 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8747678 8747678 + Silent SNP G G A TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr11:8747678G>A ENST00000534127.1 - 7 1804 c.1419C>T c.(1417-1419)aaC>aaT p.N473N ST5_ENST00000526757.1_Silent_p.N53N|ST5_ENST00000530438.1_Silent_p.N53N|ST5_ENST00000357665.1_Silent_p.N473N|ST5_ENST00000313726.6_Silent_p.N473N NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 473 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) ACTTGGGTTGGTTCTCAGTAC 0.478000 12 94 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78610535 78610535 + Missense_Mutation SNP T T G TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr5:78610535T>G ENST00000396137.4 + 9 2982 c.2520T>G c.(2518-2520)gaT>gaG p.D840E JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 840 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) TGGAGAAAGATCTGCCTAGAA 0.592000 4 40 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144823868 144823868 + Missense_Mutation SNP T T G TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr1:144823868T>G ENST00000440491.2 + 9 1135 c.1135T>G c.(1135-1137)Tat>Gat p.Y379D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y379D|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y64D NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GGACTCACTGTATAGATGTTA 0.478000 3 30 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 5 71 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr6:29977359G>A ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 5 32 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 27 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145150795 145150795 + Silent SNP G G A rs146030978 TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr8:145150795G>A ENST00000318911.4 + 2 262 c.189G>A c.(187-189)gcG>gcA p.A63A NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 63 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCTGTCAGCGCTGGGCATGC 0.662000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 63 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121544383 121544383 + Splice_Site SNP A A G TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr6:121544383A>G ENST00000275159.6 - 21 2479 c.2481_splice c.e21+1 p.I827_splice TBC1D32_ENST00000398212.2_Splice_Site_p.I827_splice|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 ATGACTTACAATAACACATGT 0.299000 23 32 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 5 32 0 0 1 0 0 TRBC2 0 broad.mit.edu 37 7 142499762 142499762 + RNA SNP A A G rs706 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr7:142499762A>G ENST00000466254.1 + 0 405 GTGCACAGGTACCTACATGCT 0.542000 5 117 0 0 1 0 0 USP32P2 0 broad.mit.edu 37 17 18416747 18416747 + RNA SNP G G T rs141915702 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr17:18416747G>T ENST00000425211.1 - 0 2522 GGCAGAGTCGGTGTCAATTTC 0.428000 4 45 0.00909568 0.00940932 1 1 0 CACNA1D 776 broad.mit.edu 37 3 53810919 53810919 + Missense_Mutation SNP T T A TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr3:53810919T>A ENST00000288139.3 + 38 4701 c.4583T>A c.(4582-4584)cTg>cAg p.L1528Q CACNA1D_ENST00000350061.5_Missense_Mutation_p.L1508Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L1493Q|CACNA1D_ENST00000540742.1_Missense_Mutation_p.L400Q NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1508 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTGGTCACTCTGCTTCGACGC 0.527000 7 45 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53321259 53321259 + Translation_Start_Site SNP G G A rs112424230 by1000genomes TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr19:53321259G>A ENST00000457749.2 - 0 72 ZNF28_ENST00000594602.1_De_novo_Start_OutOfFrame|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_De_novo_Start_InFrame NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TCTTCCTCACGTACCAAGATT 0.428000 4 70 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 3072 3072 + RNA SNP T T C TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chrM:3072T>C ENST00000387347.2 + 0 1402 NR_039705.1 CGTGATCTGAGTTCAGACCGG 0.468000 9 0 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564403 33564403 + Missense_Mutation SNP A A G TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr11:33564403A>G ENST00000321505.4 + 1 583 c.403A>G c.(403-405)Acc>Gcc p.T135A KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T135A|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T135A KIAA1549-like CATAGAAATGACCAGCAGAAA 0.522000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 44 0 0 1 0 0 UBE2U 148581 broad.mit.edu 37 1 64676469 64676469 + Missense_Mutation SNP C C A TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr1:64676469C>A ENST00000371077.4 + 4 710 c.286C>A c.(286-288)Cct>Act p.P96T UBE2U_ENST00000371076.3_Missense_Mutation_p.P96T Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 96 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 TTTGGACAACCCTGAGAAGTG 0.308000 3 41 0.115264 0.115264 1 1 0 ATRX 546 broad.mit.edu 37 X 76875995 76875995 + Missense_Mutation SNP C C A TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chrX:76875995C>A ENST00000373344.5 - 20 5354 c.5140G>T c.(5140-5142)Gat>Tat p.D1714Y ATRX_ENST00000395603.3_Missense_Mutation_p.D1676Y|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1714 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACAACAAAATCAGGGCCTACA 0.284000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 6 14 0.00116845 0.00129827 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 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 46 45 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 3 3 --- --- --- --- CWH43 80157 broad.mit.edu 37 4 49063893 49063893 + Frame_Shift_Del DEL A A - TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr4:49063893delA ENST00000226432.4 + 16 2269 c.2086delA c.(2086-2088)aafs p.K696fs CWH43_ENST00000513409.1_Frame_Shift_Del_p.K669fs NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 696 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GAATACTCCCAAATACTTTTT 0.254 11 16 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708658 180708658 + RNA DEL A A - TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr5:180708658delA ENST00000412295.2 + 0 238 GAGCGGTAGGAGgggggctgg 0.711 2 4 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494021 65494023 + In_Frame_Del DEL GCA GCA - rs62519837 TCGA-EL-A4K1-01A-11D-A257-08 TCGA-EL-A4K1-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad7e48d-ad2d-4b88-841b-8dcf2ac88399 5d6424d3-35dc-4aa9-9490-d60a5fb0ee44 g.chr8:65494021_65494023delGCA ENST00000321870.1 + 1 1208_1210 c.674_676delGCA c.(673-678)ggc>g p.GS225del RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 225 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1)|p.S226G(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 ggcagcggcggcagcagcagcag 0.709 2 4 --- --- --- ---