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 KCNA4 3739 broad.mit.edu 37 11 30033580 30033580 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr11:30033580G>A uc001msk.3 - 1 1887 c.646C>T c.(646-648)Cgc>Tgc p.R216C KCNA4_uc021qfi.1_Missense_Mutation_p.R216C NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 216 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TACTCATTGCGCAAAGGGTCA 0.483000 4 101 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41530310 41530310 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr8:41530310G>A uc003xom.3 - 38 5063 c.4781C>T c.(4780-4782)gCg>gTg p.A1594V NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.A1553V|ANK1_uc003xoj.3_Missense_Mutation_p.A1553V|ANK1_uc003xok.3_Missense_Mutation_p.A1553V|ANK1_uc003xol.3_Intron NM_001142446 NP_001135918 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA. 1553 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCCGTGGCCGCCAAGGGGAT 0.622000 3 59 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 43 59 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11139095 11139095 + Missense_Mutation SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chrX:11139095G>A uc004cul.2 + 5 770 c.590G>A c.(589-591)cGa>cAa p.R197Q HCCS_uc004cuk.3_Missense_Mutation_p.R197Q|HCCS_uc004cuj.3_Missense_Mutation_p.R197Q NM_001171991 NP_005324 P53701 CCHL_HUMAN Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA. 197 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 CCAAGGGCACGAATTCGTTCC 0.453000 11 244 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79056079 79056079 + Missense_Mutation SNP G G T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr15:79056079G>T uc002bej.4 - 21 4913 c.4702C>A c.(4702-4704)Cac>Aac p.H1568N NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 1568 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GTGCAGGGGTGGGTGTTGCAG 0.711000 3 32 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41599590 41599590 + Missense_Mutation SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:41599590T>C uc002opt.3 + 5 896 c.887T>C c.(886-888)cTg>cCg p.L296P NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 296 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) ATGACCACCCTGAACCTCTTC 0.557000 3 118 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18029723 18029723 + Silent SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr17:18029723G>A uc021trm.1 + 3 4038 c.3819G>A c.(3817-3819)ccG>ccA p.P1273P MYO15A_uc021trl.1_Silent_p.P1273P NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 1273 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCTATGGGCCGGAGCAGGTGC 0.622000 3 88 0 0 1 0 0 LOH12CR1 118426 broad.mit.edu 37 12 12514275 12514275 + Missense_Mutation SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr12:12514275T>C uc001ral.2 + 1 560 c.194T>C c.(193-195)cTt>cCt p.L65P LOH12CR1_uc009zhu.2_Intron NM_058169 NP_477517 Q969J3 L12R1_HUMAN Homo sapiens loss of heterozygosity, 12, chromosomal region 1 (LOH12CR1), mRNA. 65 kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) TTCCAGCCCCTTTTGAAAGGT 0.468000 3 153 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150411907 150411907 + Missense_Mutation SNP C C T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr5:150411907C>T uc003lti.3 - 16 2058 c.1817G>A c.(1816-1818)cGa>cAa p.R606Q TNIP1_uc011dcn.2_Missense_Mutation_p.R124Q|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.R489Q|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Missense_Mutation_p.R542Q|TNIP1_uc010jhr.2_Missense_Mutation_p.R606Q|TNIP1_uc011dco.2_Missense_Mutation_p.E612K|TNIP1_uc003ltg.3_Missense_Mutation_p.R553Q|TNIP1_uc003ltk.3_Missense_Mutation_p.R606Q|TNIP1_uc003ltj.3_Missense_Mutation_p.R606Q|TNIP1_uc021ygb.1_Missense_Mutation_p.R606Q NM_006058 NP_006049 Q15025 TNIP1_HUMAN Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA. 606 Pro-rich. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding p.R606Q(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTTGGATTTCGAACCCCTCC 0.512000 3 58 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55525819 55525819 + Silent SNP G G A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:55525819G>A uc002qil.3 - 7 1522 c.1494C>T c.(1492-1494)tgC>tgT p.C498C GP6_uc002qik.3_3'UTR|GP6_uc010esq.3_3'UTR NM_001083899 NP_001077368 Q9HCN6 GPVI_HUMAN Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 1, mRNA. 0 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) TTGTTAGACCGCAGTGGGAGA 0.502000 4 147 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603736 140603736 + Missense_Mutation SNP C C A TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr5:140603736C>A uc003ljb.3 + 0 659 c.659C>A c.(658-660)cCg>cAg p.P220Q NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 220 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGATCCCCGCCCAAGTCT 0.478000 3 122 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58152518 58152518 + Missense_Mutation SNP T T C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:58152518T>C uc002qpr.2 + 5 1159 c.856T>C c.(856-858)Ttt>Ctt p.F286L ZNF211_uc010yhb.1_Missense_Mutation_p.F226L|ZNF211_uc002qpp.2_Missense_Mutation_p.F235L|ZNF211_uc002qpq.2_Missense_Mutation_p.F222L|ZNF211_uc002qpt.2_Missense_Mutation_p.F234L|ZNF211_uc010yhc.1_Missense_Mutation_p.F234L|ZNF211_uc010yhe.1_Missense_Mutation_p.F213L|ZNF211_uc010yhd.1_Missense_Mutation_p.F161L NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 222 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCGGTGGCCTTTTACAGTGG 0.468000 3 97 0 0 1 0 0 MATN3 4148 broad.mit.edu 37 2 20205863 20205863 + Silent SNP C C T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr2:20205863C>T uc002rdl.3 - 1 495 c.432G>A c.(430-432)caG>caA p.Q144Q MATN3_uc010exu.1_Silent_p.Q144Q NM_002381 NP_002372 O15232 MATN3_HUMAN Homo sapiens matrilin 3 (MATN3), mRNA. 144 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTCAGGGACTGCTTATCTG 0.567000 3 108 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr19:9090831A>G uc002mkp.3 - 0 1188 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 100 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57429071 57429071 + Missense_Mutation SNP G G C TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr20:57429071G>C uc002xzw.3 + 0 1036 c.751G>C c.(751-753)Ggc>Cgc p.G251R GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACAAGTCGACGGCAGCAGCCA 0.677000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 15 14 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132235871 132235871 + Silent SNP C C T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr2:132235871C>T uc002tsu.4 + 1 331 c.138C>T c.(136-138)gaC>gaT p.D46D NM_080386 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA. 46 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GTGGCGGGGACGACTCCTTCA 0.562000 48 63 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175325475 175325475 + Missense_Mutation SNP A A T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr1:175325475A>T uc001gkp.1 - 13 3179 c.3098T>A c.(3097-3099)aTc>aAc p.I1033N TNR_uc009wwu.1_Missense_Mutation_p.I1033N NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 1033 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GTTGGTGCTGATGGTGCCACT 0.498000 30 164 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85696234 85696235 + Frame_Shift_Ins INS - - T TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr4:85696234_85696235insT uc003hpd.3 - 27 4983_4984 c.4575_4576insA c.(4573-4578)gaactgfs p.E1525fs NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 1525 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCTGTGAGCAGTTCAATAAAGT 0.297 34 46 --- --- --- --- AX746903 0 broad.mit.edu 37 4 120549923 120549923 + Frame_Shift_Del DEL C C - TCGA-DJ-A3UR-01A-11D-A22D-08 TCGA-DJ-A3UR-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6241539c-6660-4bd4-a960-51fcfc3e9259 d924686d-bf80-4471-b658-c02bd6b4e7ba g.chr4:120549923delC uc003idj.1 + 0 979 c.99delC c.(97-99)ctcfs p.L33fs PDE5A_uc003idf.3_5'Flank|PDE5A_uc003idg.3_5'Flank|PDE5A_uc003idh.3_5'UTR Homo sapiens cDNA FLJ33983 fis, clone DFNES2004684. TCGAGACCCTCCCCCTTCGTC 0.711 OREG0016307 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- ---