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 ATP8B2 57198 broad.mit.edu 37 1 154303605 154303605 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:154303605G>T ENST00000368489.3 + 5 385 c.385G>T c.(385-387)Gat>Tat p.D129Y ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 115 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCTGTTAAAGATGCCACTGA 0.488 21 40 --- --- --- --- XCL1 6375 broad.mit.edu 37 1 168549329 168549329 + Missense_Mutation SNP G G C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:168549329G>C ENST00000367818.3 + 2 255 c.90G>C c.(88-90)agG>agC p.R30S NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 30 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) CAGATAAGAGGACCTGTGTGA 0.458 19 71 --- --- --- --- LAMC2 3918 broad.mit.edu 37 1 183207488 183207488 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr1:183207488C>T ENST00000264144.4 + 19 2866 c.2801C>T c.(2800-2802)gCa>gTa p.A934V LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 934 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AAAAGCAGAGCACAAGAAGCA 0.418 37 109 --- --- --- --- APOB 338 broad.mit.edu 37 2 21252827 21252827 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr2:21252827C>T ENST00000233242.1 - 11 1540 c.1413G>A c.(1411-1413)atG>atA p.M471I APOB_ENST00000399256.4_Missense_Mutation_p.M471I NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 471 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAATCTGTTCCATCAGGTAAT 0.428 11 131 --- --- --- --- TBC1D5 9779 broad.mit.edu 37 3 17279892 17279892 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:17279892G>A ENST00000253692.7 - 17 3015 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 451 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 ATATTCAGGGGAGCACCTTTG 0.388 12 46 --- --- --- --- ALDH1L1 10840 broad.mit.edu 37 3 125824675 125824675 + Silent SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr3:125824675G>A ENST00000393434.2 - 22 2896 c.2547C>T c.(2545-2547)gtC>gtT p.V849V ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.V859V NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 849 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCTTGTCACTGACATACAGGG 0.552 5 177 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48352729 48352729 + Silent SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:48352729C>T ENST00000435803.1 + 25 9606 c.9582C>T c.(9580-9582)agC>agT p.S3194S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3194 transport integral to membrane ATP binding|ATPase activity p.S3139S(1)|p.S3194S(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCAGCCTCAGCGCCTTGCTTG 0.433 10 18 --- --- --- --- OR2F2 135948 broad.mit.edu 37 7 143632698 143632698 + Missense_Mutation SNP G G A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:143632698G>A ENST00000408955.2 + 1 440 c.373G>A c.(373-375)Gct>Act p.A125T NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CCGCCATGTGGCTGTGTCTGA 0.557 35 89 --- --- --- --- LRRC61 65999 broad.mit.edu 37 7 150034141 150034141 + Missense_Mutation SNP C C T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:150034141C>T ENST00000359623.4 + 3 779 c.191C>T c.(190-192)gCg>gTg p.A64V LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 64 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) TCAGGCAACGCGCTCACCCAC 0.652 4 114 --- --- --- --- ELAVL2 1993 broad.mit.edu 37 9 23731123 23731123 + Splice_Site SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr9:23731123C>G ENST00000397312.2 - 3 504 c.230G>C c.(229-231)gGg>gCg p.G77A ELAVL2_ENST00000223951.6_Splice_Site_p.G77A|ELAVL2_ENST00000380117.1_Splice_Site_p.G77A|ELAVL2_ENST00000544538.1_Splice_Site_p.G77A|ELAVL2_ENST00000380110.4_Splice_Site_p.G106A NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 77 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CAAGCTCTGCCCTAATGAAAA 0.393 17 28 --- --- --- --- C9orf172 389813 broad.mit.edu 37 9 139740894 139740894 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr9:139740894G>T ENST00000436881.1 + 1 2028 c.2028G>T c.(2026-2028)atG>atT p.M676I NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 676 endometrium(2)|large_intestine(1)|lung(6) 9 CCGAGACCATGTTCAACGCCT 0.692 3 48 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102248628 102248628 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr10:102248628G>T ENST00000370345.3 - 24 3372 c.3275C>A c.(3274-3276)tCt>tAt p.S1092Y NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1092 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GTCAGTTGCAGACAGGGAGCA 0.577 35 62 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70057560 70057560 + RNA SNP A A C TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr16:70057560A>C ENST00000531894.1 - 0 1005 NR_003610.1 CATAACCCAGAGCCAATGTTG 0.353 60 74 --- --- --- --- TMEM102 284114 broad.mit.edu 37 17 7340279 7340279 + Missense_Mutation SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr17:7340279G>T ENST00000323206.1 + 3 1254 c.981G>T c.(979-981)tgG>tgT p.W327C RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 327 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) TGGCGGGCTGGCCCGAGGGGG 0.726 3 18 --- --- --- --- COASY 80347 broad.mit.edu 37 17 40717505 40717505 + Silent SNP G G T TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr17:40717505G>T ENST00000393818.2 + 7 1860 c.1404G>T c.(1402-1404)gtG>gtT p.V468V COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000420359.1_Silent_p.V468V NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 468 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) GTGTGTGTGTGATTGATGCCG 0.612 17 49 --- --- --- --- MRPL54 116541 broad.mit.edu 37 19 3762707 3762707 + Silent SNP C C G TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:3762707C>G ENST00000330133.4 + 1 46 c.9C>G c.(7-9)acC>acG p.T3T NM_172251.2 NP_758455.1 Q6P161 RM54_HUMAN mitochondrial ribosomal protein L54 3 mitochondrion|ribosome breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) TCATGGCGACCAAACGCCTTT 0.632 37 105 --- --- --- --- WDR83 84292 broad.mit.edu 37 19 12780860 12780860 + Missense_Mutation SNP C C A TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr19:12780860C>A ENST00000418543.3 + 4 522 c.173C>A c.(172-174)aCg>aAg p.T58K WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 58 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 CTTCGGGGGACGCTGCTGCGG 0.677 3 75 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140453122 140453133 + In_Frame_Del DEL TCCATCGAGATT TCCATCGAGATT - rs121913365 TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr7:140453122_140453133delTCCATCGAGATT ENST00000288602.6 - 15 1862_1873 c.1802_1813delAATCTCGATGGA c.(1801-1815)aaatctcgatggagt>agt p.KSRW601del NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). 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.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(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) TGGGACCCACTCCATCGAGATTTCACTGTAGC 0.382 K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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 8 93 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-HC-7742-01A-11D-2114-08 TCGA-HC-7742-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b134ed52-c6fa-45eb-a4af-1d84cbf013d8 c8565d71-27c7-400a-bd9b-97fd79a7e8e7 g.chr17:7578222_7578223delTC ENST00000420246.2 - 6 758_759 c.626_627delGA c.(625-627)agafs p.R209fs TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 209 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAAAGTGTTTCTGTCATCCAA 0.535 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 40 42 --- --- --- ---