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 SEMA7A 8482 broad.mit.edu 37 15 74710610 74710610 + Splice_Site SNP C C A TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr15:74710610C>A ENST00000261918.4 - 3 919 c.372_splice c.e3+1 p.R124_splice SEMA7A_ENST00000542748.1_5'UTR|SEMA7A_ENST00000543145.2_Intron NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 124 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CCCACTCACCCGCTTATCCAG 0.582000 3 46 0.004672 0.004964 0.004672 1 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 31 0 0 0.014758 0 0 OR5M3 219482 broad.mit.edu 37 11 56237294 56237294 + Missense_Mutation SNP C C T rs144814707 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr11:56237294C>T ENST00000312240.2 - 1 720 c.680G>A c.(679-681)cGc>cAc p.R227H NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TTCTGCTGAGCGCATTCGCAG 0.418000 11 13 0 0 0.069234 0 0 TRRAP 8295 broad.mit.edu 37 7 98501102 98501102 + Missense_Mutation SNP T T C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr7:98501102T>C ENST00000359863.4 + 12 1207 c.998T>C c.(997-999)aTt>aCt p.I333T TRRAP_ENST00000355540.3_Missense_Mutation_p.I333T|TRRAP_ENST00000446306.3_Missense_Mutation_p.I333T NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 333 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GAGCTTCTGATTGCTGCCAAA 0.488000 3 111 0 0 0.009096 0 0 ANKRD27 84079 broad.mit.edu 37 19 33137489 33137489 + Silent SNP T T C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:33137489T>C ENST00000306065.4 - 4 404 c.246A>G c.(244-246)ttA>ttG p.L82L ANKRD27_ENST00000587352.1_Silent_p.L82L|ANKRD27_ENST00000586693.2_5'UTR NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 82 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) AACCAGCTCCTAATTTAATCC 0.473000 3 53 0 0 0.004672 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 25 0 0 0.009096 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877399 39877399 + Missense_Mutation SNP A A T TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr1:39877399A>T ENST00000530275.1 + 1 1249 c.1054A>T c.(1054-1056)Aat>Tat p.N352Y MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 352 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGAGCTACAGAATCAAATCTC 0.423000 23 69 0 0 0.062417 0 0 MBTPS1 8720 broad.mit.edu 37 16 84089661 84089661 + Missense_Mutation SNP G G T TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr16:84089661G>T ENST00000343411.3 - 22 3406 c.2911C>A c.(2911-2913)Caa>Aaa p.Q971K NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 971 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGCCTCACTTGAGGGCGATTC 0.493000 25 67 8.24728e-16 9.34692e-16 0.099896 1 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 6 87 0 0 0.021553 0 0 NLRP4 147945 broad.mit.edu 37 19 56369469 56369469 + Missense_Mutation SNP A A G TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:56369469A>G ENST00000301295.6 + 3 1132 c.710A>G c.(709-711)cAg>cGg p.Q237R NLRP4_ENST00000346986.5_Missense_Mutation_p.Q237R|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q162R NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 237 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAGAGCTGCAGGGCGGCTTG 0.542000 4 101 0 0 0.009096 0 0 RYR1 6261 broad.mit.edu 37 19 38934209 38934209 + Silent SNP C C T rs139629035 byFrequency TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:38934209C>T ENST00000355481.4 + 4 413 c.282C>T c.(280-282)ggC>ggT p.G94G RYR1_ENST00000360985.3_Silent_p.G94G|RYR1_ENST00000359596.3_Silent_p.G94G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 94 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATCCCAGGGCGGGGGACACA 0.632000 16 27 0 0 0.024245 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377662 49377662 + Missense_Mutation SNP A A G rs142855954 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:49377662A>G ENST00000200453.5 + 2 1441 c.1172A>G c.(1171-1173)tAt>tGt p.Y391C NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 391 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TCCTGGGTCTATCAGCCAGGA 0.527000 4 159 0 0 0.009096 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 26 0 0 0.009096 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134455701 134455701 + Missense_Mutation SNP T T C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr9:134455701T>C ENST00000372195.1 - 23 3326 c.3083A>G c.(3082-3084)aAg>aGg p.K1028R RAPGEF1_ENST00000372189.3_Missense_Mutation_p.K1011R|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K1029R Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 1011 Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CTGCCACCGCTTGGAGAAGTT 0.637000 7 25 0 0 0.038147 0 0 MUC21 394263 broad.mit.edu 37 6 30954379 30954379 + Missense_Mutation SNP A A T TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr6:30954379A>T ENST00000376296.3 + 2 668 c.427A>T c.(427-429)Acc>Tcc p.T143S MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 143 28 X 15 AA approximate tandem repeats.|Ser-rich. T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321). integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CTCCAGCACAACCTCCAGTGG 0.617000 11 251 0 0 0.080935 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 4 58 0 0 0.080935 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 25 0 0 0.004672 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d 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 13 14 0 0 0.020292 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 17 0 0 0.004672 0 0 DTNBP1 84062 broad.mit.edu 37 6 15615571 15615571 + Missense_Mutation SNP A A G rs149346386 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr6:15615571A>G ENST00000338950.5 - 6 520 c.415T>C c.(415-417)Tgt>Cgt p.C139R DTNBP1_ENST00000344537.5_Missense_Mutation_p.C139R|DTNBP1_ENST00000355917.3_Missense_Mutation_p.C139R NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 139 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) CACTGCCCACATAAGTCTTCC 0.383000 Hermansky-Pudlak syndrome 4 91 0 0 0.009096 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120437 38120437 + Missense_Mutation SNP G G C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr22:38120437G>C ENST00000406386.3 + 7 2129 c.1874G>C c.(1873-1875)aGa>aCa p.R625T RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 625 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GATAACCCCAGAACATCCTGT 0.592000 7 80 0 0 0.058154 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 78 0 0 0.009096 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 3 6 --- --- --- --- CTD-2184D3.5 0 broad.mit.edu 37 15 52388055 52388056 + RNA DEL AG AG - rs58524153 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr15:52388055_52388056delAG ENST00000558607.1 - 0 54 aacattaaacagagttaccatg 0.332 3 3 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 4 --- --- --- --- LILRB5 0 broad.mit.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G rs11375503 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:54754838_54754839insG ENST00000450632.1 - 13 1873_1874 c.1796_1797insC c.(1795-1797)cccfs p.P599fs LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 424 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) GTGGTGGGGGTGGGGAGGCCTG 0.604 7 33 --- --- --- ---