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 SLC22A13 9390 broad.mit.edu 37 3 38307442 38307442 + Silent SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:38307442C>T ENST00000311856.4 + 1 140 c.91C>T c.(91-93)Ctg>Ttg p.L31L SLC22A13_ENST00000450935.2_5'UTR NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 31 integral to plasma membrane organic cation transmembrane transporter activity p.L31M(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TCTCAACTTCCTGTCTCCCTT 0.498000 7 34 0 0 0.001984 0 0 SLC22A1 6580 broad.mit.edu 37 6 160575836 160575836 + Silent SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr6:160575836C>T ENST00000366963.4 + 9 1539 c.1392C>T c.(1390-1392)ctC>ctT p.L464L SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Intron NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 464 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TCAGGAACCTCGGAGTGATGG 0.438000 6 21 0 0 0.001168 0 0 ACER2 340485 broad.mit.edu 37 9 19424785 19424785 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr9:19424785C>T ENST00000340967.2 + 3 337 c.311C>T c.(310-312)gCt>gTt p.A104V ACER2_ENST00000380376.1_Missense_Mutation_p.A55V NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 104 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 CTGATGTGTGCTTTGGCCATG 0.438000 9 52 0 0 0.004482 0 0 DPF2 5977 broad.mit.edu 37 11 65116348 65116348 + Missense_Mutation SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr11:65116348G>A ENST00000528416.1 + 10 1178 c.1045G>A c.(1045-1047)Gat>Aat p.D349N DPF2_ENST00000415073.2_Missense_Mutation_p.D165N|DPF2_ENST00000252268.4_Missense_Mutation_p.D363N NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 349 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 TGATGACTGCGATCGTGGCTA 0.488000 10 42 0 0 0.006214 0 0 SSTR2 6752 broad.mit.edu 37 17 71165803 71165803 + Silent SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr17:71165803C>T ENST00000357585.2 + 2 714 c.345C>T c.(343-345)tgC>tgT p.C115C SSTR2_ENST00000315332.2_Silent_p.C115C|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 115 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) AGGCCATTTGCCGGGTGGTCA 0.562000 9 39 0 0 0.004482 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74551056 74551056 + Silent SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr14:74551056G>A ENST00000553458.1 - 1 140 c.42C>T c.(40-42)atC>atT p.I14I ALDH6A1_ENST00000556852.1_5'UTR|ALDH6A1_ENST00000350259.4_Silent_p.I14I NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 14 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) TCGCCTGCAGGATCCGGGCTC 0.667000 4 36 0 0 0.009096 0 0 DNAH8 1769 broad.mit.edu 37 6 38998146 38998146 + Missense_Mutation SNP C C A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr6:38998146C>A ENST00000359357.3 + 91 13705 c.13451C>A c.(13450-13452)gCc>gAc p.A4484D DNAH8_ENST00000441566.1_Missense_Mutation_p.A4448D dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGAGGAGTGGCCCTTTTGTGT 0.478000 4 42 1.024e-07 2.76859e-07 0.014758 1 0 PRDM9 56979 broad.mit.edu 37 5 23527795 23527795 + Silent SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr5:23527795G>A ENST00000296682.3 + 11 2780 c.2598G>A c.(2596-2598)ggG>ggA p.G866G NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 866 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGGAGTGTGGGCGGGGCTTTA 0.562000 HNSCC(3;0.000094) 17 88 0 0 0.008871 0 0 TEKT3 64518 broad.mit.edu 37 17 15234676 15234676 + Missense_Mutation SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr17:15234676G>A ENST00000395930.1 - 3 413 c.227C>T c.(226-228)tCc>tTc p.S76F TEKT3_ENST00000338696.2_Missense_Mutation_p.S76F NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 76 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGTATTCTCGGACACCCTCTG 0.502000 5 72 0 0 0.014758 0 0 STX12 23673 broad.mit.edu 37 1 28148801 28148801 + Missense_Mutation SNP C C G TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr1:28148801C>G ENST00000373943.4 + 9 917 c.792C>G c.(790-792)atC>atG p.I264M NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 264 cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) TTATTCTAATCTTGGGACTTA 0.403000 13 45 0 0 0.013537 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 39 0 0 0.004672 0 0 EFEMP2 30008 broad.mit.edu 37 11 65636001 65636001 + Missense_Mutation SNP A A G TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr11:65636001A>G ENST00000307998.6 - 8 1057 c.827T>C c.(826-828)cTg>cCg p.L276P EFEMP2_ENST00000528176.1_Missense_Mutation_p.L276P NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 276 EGF-like 5; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) GCGTGTGGCCAGCAGCTGGTA 0.627000 5 33 0 0 0.004482 0 0 CYP3A4 1576 broad.mit.edu 37 7 99359829 99359829 + Missense_Mutation SNP G G A rs67784355 byFrequency TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr7:99359829G>A ENST00000354593.2 - 6 741 c.638C>T c.(637-639)aCg>aTg p.T213M CYP3A4_ENST00000336411.2_Missense_Mutation_p.T363M P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 363 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TAATCTGAGCGTTTCATTCAC 0.418000 6 37 0 0 0.001168 0 0 C15orf52 388115 broad.mit.edu 37 15 40628778 40628778 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr15:40628778C>T ENST00000397536.2 - 5 421 c.386G>A c.(385-387)cGa>cAa p.R129Q C15orf52_ENST00000559313.1_Missense_Mutation_p.R339Q Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 339 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) CTGTTACCTTCGGGCCCTGCC 0.652000 7 53 0 0 0.003080 0 0 PGM1 5236 broad.mit.edu 37 1 64097453 64097453 + Splice_Site SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr1:64097453G>A ENST00000371083.4 + 4 1104 c.736_splice c.e4+1 p.V246_splice PGM1_ENST00000540265.1_Splice_Site_p.V31_splice|PGM1_ENST00000371084.3_Splice_Site_p.V228_splice NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 228 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TATGCATGGAGGTATACAATC 0.408000 3 51 0 0 0.004672 0 0 PSG8 440533 broad.mit.edu 37 19 43268115 43268115 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr19:43268115C>T ENST00000404209.4 - 2 479 c.383G>A c.(382-384)gGt>gAt p.G128D PSG8_ENST00000401467.2_Missense_Mutation_p.G128D|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.G128D NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 128 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) ATTCTCATCACCTCCCATTAT 0.468000 22 224 0 0 0.014323 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360598 118360598 + Silent SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr10:118360598G>A ENST00000528052.1 + 10 1019 c.948G>A c.(946-948)ccG>ccA p.P316P PNLIPRP1_ENST00000534537.1_Silent_p.P316P|PNLIPRP1_ENST00000358834.4_Silent_p.P316P P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 316 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AGTGCTTCCCGTGTCCAGATC 0.448000 16 40 0 0 0.007413 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036109 9036109 + Missense_Mutation SNP G G A TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:9036109G>A ENST00000383836.3 - 19 2753 c.2326C>T c.(2326-2328)Cgc>Tgc p.R776C SRGAP3_ENST00000360413.3_Missense_Mutation_p.R752C NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 776 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TCCGAGGCGCGGTGGTACAGG 0.587000 T RAF1 pilocytic astrocytoma 10 55 0 0 0.006214 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937403 82937403 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr5:82937403C>T ENST00000274341.4 - 5 1827 c.977G>A c.(976-978)aGt>aAt p.S326N NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 326 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CTCAGTAGGACTGCAGCGCCT 0.537000 34 105 0 0 0.010818 0 0 KIF11 3832 broad.mit.edu 37 10 94368781 94368781 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr10:94368781C>T ENST00000260731.3 + 5 482 c.392C>T c.(391-393)cCc>cTc p.P131L NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 131 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTTCAGGATCCCTTGGCTGGT 0.328000 8 12 0 0 0.003080 0 0 PSG4 5672 broad.mit.edu 37 19 43699308 43699308 + Missense_Mutation SNP T T C TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr19:43699308T>C ENST00000405312.3 - 4 1064 c.827A>G c.(826-828)aAt>aGt p.N276S PSG4_ENST00000433626.2_Missense_Mutation_p.N183S|PSG4_ENST00000244295.9_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 276 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GCTCTGACCATTTAGCCACCA 0.433000 10 165 0 0 0.018920 0 0 DAW1 164781 broad.mit.edu 37 2 228762934 228762934 + Silent SNP T T C TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr2:228762934T>C ENST00000373666.2 + 6 1113 c.477T>C c.(475-477)tgT>tgC p.C159C DAW1_ENST00000545118.1_Silent_p.C144C|DAW1_ENST00000309931.2_Silent_p.C159C dynein assembly factor with WDR repeat domains 1 ATAAAACTTGTAAACTCTGGA 0.289000 5 25 0 0 0.001168 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74203721 74203721 + Missense_Mutation SNP C C T rs150626971 TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr14:74203721C>T ENST00000286523.5 - 3 2511 c.1729G>A c.(1729-1731)Ggg>Agg p.G577R ELMSAN1_ENST00000394071.2_Missense_Mutation_p.G577R NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GCATCTGTCCCGGGGATTCGG 0.607000 4 41 0 0 0.014758 0 0 FAM83C 128876 broad.mit.edu 37 20 33874757 33874757 + Missense_Mutation SNP G G T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr20:33874757G>T ENST00000374408.3 - 4 1921 c.1825C>A c.(1825-1827)Ccc>Acc p.P609T NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 609 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTTTCAAGGGGCACTCTGGAA 0.622000 15 32 9.16793e-09 2.57407e-08 0.004990 1 0 EMILIN2 84034 broad.mit.edu 37 18 2891825 2891825 + Missense_Mutation SNP C C T TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr18:2891825C>T ENST00000254528.3 + 4 1859 c.1700C>T c.(1699-1701)gCc>gTc p.A567V NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 567 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) ATGGAAGGTGCCTTGCCAAAC 0.493000 5 45 0 0 0.014758 0 0 SETD2 29072 broad.mit.edu 37 3 47125651 47125651 + Frame_Shift_Del DEL G G - TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:47125651delG ENST00000409792.3 - 12 5661 c.5619delC c.(5617-5619)ccfs p.P1873fs NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1873 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTAGTTTCTTGGGAGTGTCTG 0.453 """N, F, S, Mis""" clear cell renal carcinoma 12 73 --- --- --- --- SETD2 29072 broad.mit.edu 37 3 47155477 47155478 + Frame_Shift_Del DEL TT TT - TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr3:47155477_47155478delTT ENST00000409792.3 - 5 4645_4646 c.4603_4604delAA c.(4603-4605)tfs p.N1535fs NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1535 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATAATCCCCATTTGGACACCGA 0.376 """N, F, S, Mis""" clear cell renal carcinoma 11 68 --- --- --- --- MED23 9439 broad.mit.edu 37 6 131919786 131919787 + Frame_Shift_Ins INS - - G TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr6:131919786_131919787insG ENST00000403834.3 - 19 2526_2527 c.2353_2354insC c.(2353-2355)cttfs p.L785fs MED23_ENST00000354577.4_Frame_Shift_Ins_p.L785fs|MED23_ENST00000368060.3_Frame_Shift_Ins_p.L779fs|MED23_ENST00000540546.1_Frame_Shift_Ins_p.L785fs|MED23_ENST00000368058.1_Frame_Shift_Ins_p.L785fs|MED23_ENST00000545957.1_Frame_Shift_Ins_p.L420fs|MED23_ENST00000368053.4_Frame_Shift_Ins_p.L785fs|MED23_ENST00000368068.3_Frame_Shift_Ins_p.L779fs Q9ULK4 MED23_HUMAN mediator complex subunit 23 779 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CATAGAGAAGTGGGTAATAATG 0.396 7 26 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AAC rs112328257 by1000genomes TCGA-55-6986-01A-11D-1945-08 TCGA-55-6986-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a7f3c88-ef02-4e97-8009-5622245b6a09 2d60408f-5a74-4cd1-a27e-168d1d3379e6 g.chr12:13174141_13174142insAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 3 5 --- --- --- ---