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 MACF1 23499 broad.mit.edu 37 1 39798764 39798764 + Silent SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr1:39798764T>C ENST00000564288.1 + 37 7281 c.6504T>C c.(6502-6504)ttT>ttC p.F2168F MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F2173F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2173 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACACTTCCTTTACATGTCAGA 0.403 15 38 --- --- --- --- COBLL1 22837 broad.mit.edu 37 2 165551962 165551962 + Missense_Mutation SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr2:165551962G>A ENST00000375458.2 - 11 2161 c.1940C>T c.(1939-1941)tCa>tTa p.S647L COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S723L NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 723 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 AGAATCTTGTGAACTTAAGCA 0.368 31 81 --- --- --- --- CYP27A1 1593 broad.mit.edu 37 2 219677083 219677083 + Silent SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr2:219677083G>A ENST00000258415.4 + 3 1012 c.585G>A c.(583-585)gaG>gaA p.E195E NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 195 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) TGCGGGCAGAGAGTGCTTCGG 0.557 21 97 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C A rs121913416 TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:41266101C>A ENST00000349496.5 + 3 378 c.98C>A c.(97-99)tCt>tAt p.S33Y CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 33 Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TACCTGGACTCTGGAATCCAT 0.488 S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 9 39 --- --- --- --- TAGLN3 29114 broad.mit.edu 37 3 111719684 111719684 + Missense_Mutation SNP G G C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:111719684G>C ENST00000393917.2 + 3 798 c.246G>C c.(244-246)gaG>gaC p.E82D TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D|TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D NM_013259.2 NP_037391.2 Q9UI15 TAGL3_HUMAN transgelin 3 82 CH. central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 AGATCTCAGAGTCAAAGATGG 0.478 4 243 --- --- --- --- ZNF148 7707 broad.mit.edu 37 3 124997998 124997998 + Missense_Mutation SNP G G T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:124997998G>T ENST00000360647.4 - 6 1038 c.553C>A c.(553-555)Cac>Aac p.H185N ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 185 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CTCTGTAAGTGATAGTTCGTT 0.358 40 57 --- --- --- --- LONRF1 91694 broad.mit.edu 37 8 12586450 12586450 + Missense_Mutation SNP C C A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr8:12586450C>A ENST00000398246.3 - 10 2039 c.1970G>T c.(1969-1971)gGa>gTa p.G657V LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 657 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) AGTGCAATATCCATCTTTCAT 0.393 26 46 --- --- --- --- RMDN1 51115 broad.mit.edu 37 8 87487083 87487083 + Missense_Mutation SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr8:87487083T>C ENST00000406452.3 - 9 1019 c.860A>G c.(859-861)aAg>aGg p.K287R RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 TGGATAGTCCTTGGCTTTCAT 0.383 49 96 --- --- --- --- SORCS3 22986 broad.mit.edu 37 10 106802875 106802875 + Missense_Mutation SNP C C A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr10:106802875C>A ENST00000369701.3 + 5 1244 c.1017C>A c.(1015-1017)aaC>aaA p.N339K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 339 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCACACCCAACAGGTTTTATT 0.433 5 71 --- --- --- --- SORCS3 22986 broad.mit.edu 37 10 106802876 106802876 + Missense_Mutation SNP A A G TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr10:106802876A>G ENST00000369701.3 + 5 1245 c.1018A>G c.(1018-1020)Agg>Ggg p.R340G NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 340 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CACACCCAACAGGTTTTATTG 0.433 6 68 --- --- --- --- SORCS3 22986 broad.mit.edu 37 10 106802882 106802882 + Missense_Mutation SNP T T A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr10:106802882T>A ENST00000369701.3 + 5 1251 c.1024T>A c.(1024-1026)Tat>Aat p.Y342N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 342 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAACAGGTTTTATTGGTAAGC 0.438 7 69 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1023628 1023628 + Missense_Mutation SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr11:1023628G>A ENST00000421673.2 - 26 3457 c.3407C>T c.(3406-3408)aCg>aTg p.T1136M NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1136 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGCGTGTGCGTGTTGTAGAA 0.662 4 25 --- --- --- --- NPAT 4863 broad.mit.edu 37 11 108056136 108056136 + Missense_Mutation SNP A A G TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr11:108056136A>G ENST00000278612.8 - 9 917 c.812T>C c.(811-813)tTa>tCa p.L271S NPAT_ENST00000610253.1_5'UTR NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 271 Interaction with MIZF.|Mediates transcriptional activation. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTACCTAGTTAAAAATTTATT 0.264 6 16 --- --- --- --- TAS2R19 259294 broad.mit.edu 37 12 11175140 11175140 + Missense_Mutation SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr12:11175140T>C ENST00000390673.2 - 1 79 c.31A>G c.(31-33)Att>Gtt p.I11V PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 11 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 ACTACCAGAATTGATGAAATG 0.378 4 26 --- --- --- --- HNF1A 6927 broad.mit.edu 37 12 121416600 121416600 + Missense_Mutation SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr12:121416600C>T ENST00000257555.6 + 1 255 c.29C>T c.(28-30)aCg>aTg p.T10M HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M P20823 HNF1A_HUMAN HNF1 homeobox A 10 Dimerization. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.Q9fs*11(1)|p.Q7_L12del(1)|p.?(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGCTGCAGACGGAGCTCCTG 0.692 Hepatic Adenoma, Familial Clustering of 12 62 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132445686 132445686 + Silent SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr12:132445686C>T ENST00000333577.4 + 2 631 c.522C>T c.(520-522)agC>agT p.S174S EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S|EP400_ENST00000389562.2_Silent_p.S174S Q96L91 EP400_HUMAN E1A binding protein p400 174 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGGATGCCAGCGTGCTGGTGA 0.667 5 18 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72300187 72300187 + Missense_Mutation SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr15:72300187T>C ENST00000356056.5 - 8 1832 c.1360A>G c.(1360-1362)Att>Gtt p.I454V MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V|RP11-390D11.1_ENST00000568391.1_RNA NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 454 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCTGAGACAATAGGCAGAACT 0.323 18 35 --- --- --- --- SEZ6L2 26470 broad.mit.edu 37 16 29891286 29891286 + Missense_Mutation SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr16:29891286C>T ENST00000308713.5 - 9 1999 c.1472G>A c.(1471-1473)tGc>tAc p.C491Y SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 491 Sushi 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCTGGGAGGCACGAGAAGGT 0.617 15 93 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr17:47696426A>C ENST00000393331.3 - 7 867 c.397T>G c.(397-399)Ttc>Gtc p.F133V SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448 Prostate(2;0.17) 37 88 --- --- --- --- UBALD2 283991 broad.mit.edu 37 17 74266281 74266281 + Missense_Mutation SNP A A G TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr17:74266281A>G ENST00000327490.6 + 3 494 c.190A>G c.(190-192)Act>Gct p.T64A UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A NM_182565.3 NP_872371.1 UBA-like domain containing 2 GCAGATGTGCACTCCCAGCAA 0.677 4 19 --- --- --- --- SLC17A7 57030 broad.mit.edu 37 19 49935776 49935776 + Splice_Site SNP C C T rs35127332 TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr19:49935776C>T ENST00000221485.3 - 9 1321 c.1150G>A c.(1150-1152)Ggc>Agc p.G384S SLC17A7_ENST00000543531.1_Splice_Site_p.G372S|SLC17A7_ENST00000600601.1_Splice_Site_p.G317S NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 384 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CCCCACTCACCTCCGCAGTTC 0.642 3 8 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37605187 37605187 + Silent SNP G G C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr21:37605187G>C ENST00000399151.3 + 15 2521 c.2436G>C c.(2434-2436)gtG>gtC p.V812V NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 812 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCCAGAACGTGGCCATTTCCA 0.498 16 116 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187525553 187525554 + Frame_Shift_Del DEL TC TC - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr4:187525553_187525554delTC ENST00000441802.2 - 18 10734_10735 c.10525_10526delGA c.(10525-10527)gatfs p.D3509fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3509 Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TAAGTAATGATCTTTCTCCTTC 0.431 HNSCC(5;0.00058) 9 36 --- --- --- --- OR2V2 285659 broad.mit.edu 37 5 180582423 180582423 + Frame_Shift_Del DEL A A - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr5:180582423delA ENST00000328275.1 + 1 481 c.481delA c.(481-483)atgfs p.M161fs NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTGATCCAGATGGTGGTAGT 0.488 39 126 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34685513 34685514 + Frame_Shift_Ins INS - - T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr19:34685513_34685514insT ENST00000544216.3 + 2 329_330 c.252_253insT c.(253-255)tgtfs p.C85fs LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.C85fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.C85fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 85 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) CAAAACCACAGTGTTCTTTGCC 0.431 14 117 --- --- --- ---