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 LCE2B 26239 broad.mit.edu 37 1 152659492 152659492 + Missense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr1:152659492C>A ENST00000368780.3 + 2 227 c.173C>A c.(172-174)cCc>cAc p.P58H LCE2B_ENST00000417924.2_Missense_Mutation_p.P58H NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 58 Cys-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGTGGTCCCAGCTCTGGG 0.667000 9 199 1.08611e-07 1.25581e-07 1 1 0 EVPL 2125 broad.mit.edu 37 17 74005109 74005109 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:74005109C>T ENST00000301607.3 - 22 4430 c.4177G>A c.(4177-4179)Ggg>Agg p.G1393R EVPL_ENST00000586740.1_Missense_Mutation_p.G1415R NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1393 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCCAGGCTCCCGCTCAGCCGG 0.692000 4 73 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96702050 96702050 + Missense_Mutation SNP G G A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr10:96702050G>A ENST00000260682.6 + 3 445 c.433G>A c.(433-435)Gtt>Att p.V145I CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 145 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGAGGACCGTGTTCAAGAGGA 0.493000 5 162 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39578677 39578677 + Missense_Mutation SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:39578677T>C ENST00000225550.3 - 4 741 c.742A>G c.(742-744)Att>Gtt p.I248V AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 248 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CTCCTCAGAATCTTTACTTCC 0.557000 4 134 0 0 1 0 0 CRYGC 1420 broad.mit.edu 37 2 208993026 208993026 + Silent SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr2:208993026C>T ENST00000282141.3 - 3 463 c.426G>A c.(424-426)cgG>cgA p.R142R NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 142 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GCAGGTATTGCCGCCCCCGGT 0.622000 4 98 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14787073 14787073 + Missense_Mutation SNP G G T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr18:14787073G>T ENST00000358984.4 + 15 1888 c.1708G>T c.(1708-1710)Gat>Tat p.D570Y ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 570 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ACAAAAGGACGATGAAGAAAA 0.289000 4 97 0.150653 0.150653 1 1 0 NKTR 4820 broad.mit.edu 37 3 42687435 42687435 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:42687435C>T ENST00000232978.8 + 17 4545 c.4357C>T c.(4357-4359)Cgg>Tgg p.R1453W RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1453 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CTCTCATCACCGGAGCCCCAG 0.353000 3 22 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196341 102196341 + Nonsense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:102196341C>A ENST00000306176.1 + 11 1275 c.1175C>A c.(1174-1176)tCa>tAa p.S392* ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.S376*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.S376* NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 376 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GCACTGATATCAGGAATGGTC 0.473000 7 202 8.12818e-05 9.11342e-05 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505842 195505842 + Silent SNP T T G TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:195505842T>G ENST00000463781.3 - 2 13068 c.12609A>C c.(12607-12609)acA>acC p.T4203T MUC4_ENST00000475231.1_Silent_p.T4203T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 966 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGCGTGACCTGTGGATGCTG 0.597000 3 2 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692717 53692717 + Silent SNP C C T rs75427086 byFrequency TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr1:53692717C>T ENST00000371470.3 - 5 602 c.441G>A c.(439-441)taG>taA p.*147* MAGOH_ENST00000371466.4_Silent_p.*110* NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 0 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 AATATTCAGTCTAGATTGGTT 0.368000 3 59 0 0 1 0 0 LHX1 3975 broad.mit.edu 37 17 35298029 35298029 + Missense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:35298029C>A ENST00000254457.5 + 3 1931 c.520C>A c.(520-522)Cag>Aag p.Q174K RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 174 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) GAATGACGACCAGAACCTGGG 0.642000 13 30 1.37285e-15 1.63857e-15 1 1 0 LRP1 4035 broad.mit.edu 37 12 57554807 57554807 + Missense_Mutation SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr12:57554807T>C ENST00000243077.3 + 13 2577 c.2111T>C c.(2110-2112)cTa>cCa p.L704P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 704 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCAATGGGCTAAGCCTGGAC 0.617000 12 149 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105573335 105573335 + Missense_Mutation SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr6:105573335T>C ENST00000314641.5 - 4 686 c.470A>G c.(469-471)aAg>aGg p.K157R BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 157 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity p.K157R(1) NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AGTTTGGCCCTTTTTCAAGGT 0.438000 5 211 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182614548 182614548 + Missense_Mutation SNP G G A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:182614548G>A ENST00000323116.5 + 26 3303 c.3043G>A c.(3043-3045)Gta>Ata p.V1015I NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1015 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TACAGTCACAGTAAAGGTATG 0.333000 4 109 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 5 58 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280586 73280586 + Nonsense_Mutation SNP T T A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr4:73280586T>A ENST00000286657.4 - 4 643 c.607A>T c.(607-609)Aga>Tga p.R203* NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 203 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACAGCTGATCTCTTGTAGACA 0.363000 26 151 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569593 76569593 + Silent SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr16:76569593C>T ENST00000307431.8 + 19 3289 c.2904C>T c.(2902-2904)tgC>tgT p.C968C CNTNAP4_ENST00000478060.1_Silent_p.C896C|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.C972C|CNTNAP4_ENST00000377504.4_Silent_p.C920C NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 969 EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGAAGTTATGCCGCAATGGAG 0.498000 3 39 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704168 6704168 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:6704168C>T ENST00000338694.2 - 7 1076 c.947G>A c.(946-948)cGc>cAc p.R316H TEKT1_ENST00000535086.1_Missense_Mutation_p.R170H NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 316 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) GGTCTCCAAGCGCGTATGAGC 0.507000 OREG0024124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 161 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282306 152282306 + Missense_Mutation SNP G G T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr1:152282306G>T ENST00000368799.1 - 3 5091 c.5056C>A c.(5056-5058)Cag>Aag p.Q1686K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1686 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGACTGCTGGTGGCGGGAT 0.572000 Ichthyosis 7 475 0.00198382 0.00209718 1 1 0 GALNT13 114805 broad.mit.edu 37 2 155102328 155102328 + Silent SNP A A G TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr2:155102328A>G ENST00000392825.3 + 7 1257 c.690A>G c.(688-690)aaA>aaG p.K230K GALNT13_ENST00000409237.1_Silent_p.K230K NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 230 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TCTGCAGGAAAACGGTTGTCT 0.318000 4 99 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505851 195505851 + Silent SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:195505851T>C ENST00000463781.3 - 2 13059 c.12600A>G c.(12598-12600)tcA>tcG p.S4200S MUC4_ENST00000475231.1_Silent_p.S4200S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 963 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGTGGATGCTGAGGAAGTGT 0.592000 3 2 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635727 33635727 + Silent SNP G G A rs36012519 byFrequency TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr13:33635727G>A ENST00000380099.3 + 4 2519 c.2511G>A c.(2509-2511)acG>acA p.T837T KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 837 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCGACATCACGTGGCTCAACT 0.473000 22 70 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282307 152282307 + Missense_Mutation SNP G G T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr1:152282307G>T ENST00000368799.1 - 3 5090 c.5055C>A c.(5053-5055)caC>caA p.H1685Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1685 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGACTGCTGGTGGCGGGATC 0.567000 Ichthyosis 7 473 0.000157383 0.00017127 1 1 0 DCC 1630 broad.mit.edu 37 18 50734159 50734159 + Silent SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr18:50734159T>C ENST00000442544.2 + 11 2449 c.1833T>C c.(1831-1833)gaT>gaC p.D611D DCC_ENST00000581580.1_Silent_p.D266D|DCC_ENST00000412726.1_Silent_p.D459D NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 611 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCTCTACTGATGATATAACAG 0.348000 7 299 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148009411 148009411 + Silent SNP G G A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr1:148009411G>A ENST00000369219.1 - 16 1912 c.1896C>T c.(1894-1896)tgC>tgT p.C632C Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 632 NBPF 7. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TGTAGGGCTGGCATGAGTCAG 0.483000 6 836 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24087097 24087097 + Silent SNP T T C TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr22:24087097T>C ENST00000341976.3 - 2 691 c.231A>G c.(229-231)caA>caG p.Q77Q NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 77 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GGGGGATACTTTGATGCTGAA 0.493000 22 69 0 0 1 0 0 ANAPC11 51529 broad.mit.edu 37 17 79857351 79857351 + Missense_Mutation SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:79857351C>A ENST00000357385.3 + 3 479 c.343C>A c.(343-345)Ctt>Att p.L115I ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron NM_001002244.1 NP_001002244.1 Q9NYG5 APC11_HUMAN anaphase promoting complex subunit 11 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm zinc ion binding kidney(1)|lung(1) 2 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCCTTGGTGCCTTGACCATTC 0.542000 3 47 0.115264 0.118466 1 1 0 SLC9A3 6550 broad.mit.edu 37 5 482200 482200 + Missense_Mutation SNP C C T TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr5:482200C>T ENST00000264938.3 - 8 1438 c.1429G>A c.(1429-1431)Gag>Aag p.E477K SLC9A3_ENST00000514375.1_Missense_Mutation_p.E468K NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 477 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGCAGCTTCTCGTTGAGCCGA 0.682000 6 24 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10188230 10188231 + In_Frame_Ins INS - - ACG TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr3:10188230_10188231insACG ENST00000256474.2 + 2 1213_1214 c.373_374insACG c.(373-375)cga>ACGcga p.124_125insT VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 124 Involved in binding to CCT complex. anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.H125fs*6(1)|p.H125fs*34(1)|p.R120fs*34(1)|p.H125fs*27(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TGCAGGGACACACGATGGGCTT 0.500 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 40 101 --- --- --- --- GDPD5 81544 broad.mit.edu 37 11 75160628 75160628 + Frame_Shift_Del DEL C C - TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr11:75160628delC ENST00000526177.1 - 4 1966 c.88delG c.(88-90)ctfs p.A30fs GDPD5_ENST00000533784.1_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.A168fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Frame_Shift_Del_p.A168fs Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 168 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 GCTGCCACAGCCCCCACATGC 0.627 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 4 5 --- --- --- --- LOC100130950 100130950 broad.mit.edu 37 17 5096766 5096766 + RNA DEL A A - TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0eea2062-5429-4e22-bdc1-0633ba6d15d5 c4c63c30-268c-46a8-8091-d32d9372314d g.chr17:5096766delA ENST00000571689.1 + 0 60 RP11-333E1.1_ENST00000575601.1_RNA NR_034082.1 tcaaaaaaataaaaaaaaaaa 0.507 2 4 --- --- --- ---