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 HTR3A 3359 broad.mit.edu 37 11 113860392 113860392 + Silent SNP G G T TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr11:113860392G>T ENST00000504030.2 + 9 1789 c.1344G>T c.(1342-1344)gtG>gtT p.V448V HTR3A_ENST00000355556.2_Silent_p.V486V|HTR3A_ENST00000535865.1_Silent_p.V192V|HTR3A_ENST00000299961.5_Silent_p.V433V|HTR3A_ENST00000375498.2_Silent_p.V454V|HTR3A_ENST00000506841.2_Silent_p.V480V P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 448 HA-stretch. digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TGGGCTCCGTGCTGGACAAGC 0.592000 56 120 9.53978e-28 1.25523e-27 0.870114 1 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 4 3 0 0 0.248553 0 0 CRELD1 78987 broad.mit.edu 37 3 9984805 9984805 + Missense_Mutation SNP C C A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr3:9984805C>A ENST00000383811.3 + 8 1461 c.862C>A c.(862-864)Cgc>Agc p.R288S CRELD1_ENST00000397170.3_Missense_Mutation_p.R288S|CRELD1_ENST00000452070.1_Missense_Mutation_p.R288S|CRELD1_ENST00000326434.5_Missense_Mutation_p.R288S|CRELD1_ENST00000489674.1_3'UTR NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 288 cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 AGGGCCAGGTCGCTGTAAGAA 0.617000 4 155 0.217242 0.246866 0.217242 1 0 NRG2 9542 broad.mit.edu 37 5 139260543 139260543 + Nonsense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr5:139260543G>A ENST00000541337.1 - 3 1118 c.889C>T c.(889-891)Cag>Tag p.Q297* NRG2_ENST00000545385.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000358522.3_Nonsense_Mutation_p.Q297*|NRG2_ENST00000361474.1_Nonsense_Mutation_p.Q297*|NRG2_ENST00000340391.3_Nonsense_Mutation_p.Q94*|NRG2_ENST00000289422.7_Nonsense_Mutation_p.Q297*|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289409.4_Nonsense_Mutation_p.Q297*|NRG2_ENST00000394770.1_Nonsense_Mutation_p.Q297* NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 327 Ig-like C2-type. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTTGAACTGTAGTCGTGAG 0.612000 5 104 0 0 0.278610 0 0 ZNF578 147660 broad.mit.edu 37 19 53014565 53014565 + Missense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr19:53014565G>A ENST00000421239.2 + 6 1175 c.931G>A c.(931-933)Ggt>Agt p.G311S CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTCACACTGGTGAGAAACC 0.418000 4 141 0 0 0.217242 0 0 POTEF 728378 broad.mit.edu 37 2 130877782 130877782 + Missense_Mutation SNP A A G TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr2:130877782A>G ENST00000357462.5 - 1 400 c.307T>C c.(307-309)Tgc>Cgc p.C103R POTEF_ENST00000361163.4_Missense_Mutation_p.C103R|POTEF_ENST00000409914.2_Missense_Mutation_p.C103R|POTEF_ENST00000360967.5_Missense_Mutation_p.C103R A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 103 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AAGCAGTGGCAGCACCACTTG 0.617000 5 323 0 0 0.184627 0 0 LEFTY1 10637 broad.mit.edu 37 1 226075322 226075322 + Nonsense_Mutation SNP C C A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr1:226075322C>A ENST00000272134.5 - 3 593 c.514G>T c.(514-516)Gag>Tag p.E172* RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R280L NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 172 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CAGCCGCTCTCGTGGACGGAC 0.711000 3 63 0.115264 0.137219 0.115264 1 0 MSH2 4436 broad.mit.edu 37 2 47656952 47656952 + Missense_Mutation SNP G G T TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr2:47656952G>T ENST00000406134.1 + 7 1210 c.1148G>T c.(1147-1149)cGa>cTa p.R383L MSH2_ENST00000233146.2_Missense_Mutation_p.R383L|MSH2_ENST00000543555.1_Missense_Mutation_p.R317L P43246 MSH2_HUMAN mutS homolog 2 383 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTACTTCGTCGATTCCCAGAT 0.343000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 37 74 9.58827e-17 1.19853e-16 0.870114 1 0 PPP4C 5531 broad.mit.edu 37 16 30095000 30095000 + Missense_Mutation SNP T T C TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr16:30095000T>C ENST00000279387.7 + 7 670 c.502T>C c.(502-504)Tcc>Ccc p.S168P PPP4C_ENST00000561610.1_Missense_Mutation_p.S168P NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 168 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 CGGGGGCCTCTCCCCCTCCAT 0.622000 3 135 0 0 0.184627 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26124113 26124113 + Missense_Mutation SNP G G C TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr6:26124113G>C ENST00000314332.5 - 1 25 c.20C>G c.(19-21)tCt>tGt p.S7C HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S7C P62807 H2B1C_HUMAN histone cluster 1, H2bc 7 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 GGCGGGAGCAGACTTGGCTGG 0.507000 54 77 0 0 0.870114 0 0 ELFN2 114794 broad.mit.edu 37 22 37771091 37771091 + Missense_Mutation SNP G G T TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr22:37771091G>T ENST00000402918.1 - 3 1269 c.484C>A c.(484-486)Cgc>Agc p.R162S RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.R162S NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 162 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGGCTGAGGCGGTTGGAGGAC 0.637000 65 105 3.83446e-41 5.32563e-41 0.870114 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656897 40656897 + Missense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr2:40656897G>A ENST00000406785.1 - 2 713 c.524C>T c.(523-525)gCt>gTt p.A175V SLC8A1_ENST00000542024.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A175V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A175V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A175V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A175V|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A175V P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 175 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ATTGAATGCAGCACTTCCCAC 0.463000 3 77 0 0 0.184627 0 0 ACBD5 91452 broad.mit.edu 37 10 27529319 27529319 + Missense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr10:27529319G>A ENST00000396271.3 - 2 236 c.110C>T c.(109-111)gCg>gTg p.A37V ACBD5_ENST00000375888.1_Missense_Mutation_p.A35V|ACBD5_ENST00000375905.4_Missense_Mutation_p.A2V|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000476758.1_5'UTR NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 35 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 TCTCGTGTCCGCCATCTCCAG 0.612000 4 120 0 0 0.248553 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 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 37 70 0 0 0.834066 0 0 ESX1 80712 broad.mit.edu 37 X 103495055 103495055 + Missense_Mutation SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chrX:103495055G>A ENST00000372588.4 - 4 1158 c.1075C>T c.(1075-1077)Ccc>Tcc p.P359S NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 359 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GGCGGCCCGGGTGGCAGAGGC 0.756000 5 9 0 0 0.217242 0 0 PODXL 5420 broad.mit.edu 37 7 131195717 131195717 + Silent SNP G G A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr7:131195717G>A ENST00000541194.1 - 2 839 c.582C>T c.(580-582)ccC>ccT p.P194P PODXL_ENST00000322985.9_Silent_p.P192P|PODXL_ENST00000537928.1_Silent_p.P192P|PODXL_ENST00000378555.3_Silent_p.P192P NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 192 Thr-rich. S -> L (in dbSNP:rs12670788). cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) GCGTCGAAGTGGGTTGTCGGG 0.542000 37 77 0 0 0.827153 0 0 RP11-431K24.1 0 broad.mit.edu 37 1 8126738 8126740 + RNA DEL CTC CTC - TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr1:8126738_8126740delCTC ENST00000445300.1 + 0 815 cctcccttttctcctcctcctcc 0.552 2 4 --- --- --- --- RP3-368B9.2 0 broad.mit.edu 37 4 3634997 3634998 + RNA INS - - CCCTC rs112046897 TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr4:3634997_3634998insCCCTC ENST00000505702.1 + 0 218 TCCTCCCTGGtccctcccctcc 0.604 5 9 --- --- --- --- RP11-756H20.1 0 broad.mit.edu 37 5 124935566 124935567 + RNA INS - - A TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr5:124935566_124935567insA ENST00000564199.1 + 0 324 ggcagaggcagaaaaaaaaatt 0.431 2 4 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755179 45755180 + RNA DEL CA CA - TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr15:45755179_45755180delCA ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA ccaccaccaccacaccaccacc 0.604 2 4 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 7 438 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 7 7 --- --- --- --- MGC20647 0 broad.mit.edu 37 22 30642419 30642421 + In_Frame_Del DEL GAG GAG - TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chr22:30642419_30642421delGAG ENST00000593843.1 + 2 235_237 c.235_237delGAG c.(235-237)del p.E83del LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron gggggaagaagaggaggaggagg 0.690 3 6 --- --- --- --- RP6-1O2.1 0 broad.mit.edu 37 X 10327528 10327529 + RNA DEL GT GT - rs3049021 TCGA-EL-A3GZ-01A-11D-A20C-08 TCGA-EL-A3GZ-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ceeb3f-4e5c-455e-96bb-e0e4e7ad5c38 d3d86da9-9e54-4eb7-b1f3-93180c9af636 g.chrX:10327528_10327529delGT ENST00000454113.1 + 0 553 CTAGCCCAGCgtgtgtgtgtgt 0.406 2 4 --- --- --- ---