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 GREB1 9687 broad.mit.edu 37 2 11750979 11750979 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr2:11750979C>T ENST00000381486.2 + 18 3132 c.2832C>T c.(2830-2832)tgC>tgT p.C944C GREB1_ENST00000234142.5_Silent_p.C944C NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 944 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AGTGCCCCTGCGGCCACGGGC 0.687000 3 55 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 6 58 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74592173 74592173 + Silent SNP C C A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr18:74592173C>A ENST00000253159.8 + 8 1281 c.1083C>A c.(1081-1083)ctC>ctA p.L361L ZNF236_ENST00000320610.9_Silent_p.L363L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 361 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCCAGCAGCTCCTGGAGCTCT 0.627000 8 26 0.00307968 0.00326633 1 1 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 63 0 0 1 0 0 MDM4 4194 broad.mit.edu 37 1 204513776 204513776 + Missense_Mutation SNP A A C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:204513776A>C ENST00000367182.3 + 9 948 c.786A>C c.(784-786)caA>caC p.Q262H MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 262 Asp/Glu-rich (acidic).|Region II. apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ATACTGAACAAACAAGTGAAG 0.363000 A """GBM, bladder, retinoblastoma""" 15 31 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932046 83932046 + Missense_Mutation SNP C C G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr15:83932046C>G ENST00000345382.2 - 4 2042 c.1957G>C c.(1957-1959)Ggc>Cgc p.G653R RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G646R NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 653 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TGTTCATGGCCACCATCCTCG 0.557000 17 54 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25627721 25627721 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr22:25627721C>T ENST00000398215.2 + 6 771 c.600C>T c.(598-600)gcC>gcT p.A200A NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 200 C-terminal arm. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 AACGTGGTGCCTTCCACCCCT 0.622000 17 50 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56552353 56552353 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr19:56552353G>A ENST00000390649.3 + 11 2852 c.2852G>A c.(2851-2853)cGg>cAg p.R951Q NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 951 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTCAGCAACCGGAGCTTGACA 0.567000 3 113 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158063224 158063224 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:158063224C>T ENST00000368172.1 + 8 1021 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C KIRREL_ENST00000359209.6_Missense_Mutation_p.R523C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539C|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359C Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 523 Ig-like C2-type 4. integral to membrane p.R359S(1)|p.R539S(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) CCTCTACCGGCGCCGCAAAGG 0.602000 20 51 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23444927 23444927 + Missense_Mutation SNP A A G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr16:23444927A>G ENST00000307149.5 - 6 934 c.749T>C c.(748-750)cTt>cCt p.L250P NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 250 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GAGTCCGGTAAGCTGCCGGTC 0.507000 9 43 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611561 17611561 + Nonsense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr8:17611561G>A ENST00000381869.3 - 2 2229 c.1756C>T c.(1756-1758)Cag>Tag p.Q586* MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586* NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 586 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TGCACAGCCTGGCTAGTAATG 0.398000 8 118 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G T rs28931588 TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:41266097G>T ENST00000349496.5 + 3 374 c.94G>T c.(94-96)Gac>Tac p.D32Y CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 32 D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma). 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.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(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.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(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.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.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(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) GTCTTACCTGGACTCTGGAAT 0.478000 D32N(KE39_STOMACH) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 28 0.184627 0.187303 1 1 0 ANAPC2 29882 broad.mit.edu 37 9 140070252 140070252 + Missense_Mutation SNP A A G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:140070252A>G ENST00000323927.2 - 11 1932 c.1928T>C c.(1927-1929)cTg>cCg p.L643P ANAPC2_ENST00000487917.1_5'UTR NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 643 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) CATGGTCACCAGGCCCAGGGT 0.662000 2 11 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88702336 88702336 + Silent SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr10:88702336G>A ENST00000372027.4 - 6 2278 c.2205C>T c.(2203-2205)aaC>aaT p.N735N NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 735 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 CGAAGAGTGCGTTGTGGAGGC 0.657000 3 33 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442613 138442613 + Missense_Mutation SNP T T A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr4:138442613T>A ENST00000344876.4 - 4 3364 c.2978A>T c.(2977-2979)gAt>gTt p.D993V PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 993 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGTGTCCTCATCGTTTGGGGA 0.512000 17 48 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116361630 116361630 + Missense_Mutation SNP C C T rs145417841 byFrequency TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr10:116361630C>T ENST00000369252.4 - 2 456 c.155G>A c.(154-156)cGg>cAg p.R52Q ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R52Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R112Q NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 112 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GGTCTGGACCCGAAGCACTTC 0.547000 6 86 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12325161 12325161 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr18:12325161G>A ENST00000317702.5 + 4 607 c.373G>A c.(373-375)Gag>Aag p.E125K TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 125 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) GAAGGAGTGCGAGCACTGCGA 0.672000 24 71 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 4 0.004672 0.00480941 1 1 0 DCHS1 8642 broad.mit.edu 37 11 6650985 6650985 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr11:6650985C>T ENST00000299441.3 - 11 5364 c.4953G>A c.(4951-4953)caG>caA p.Q1651Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1651 Cadherin 16. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTACTCCTGCTGCTGGAAAG 0.657000 18 20 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851965 160851965 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:160851965C>T ENST00000326245.3 - 4 302 c.187G>A c.(187-189)Ggt>Agt p.G63S NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 63 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TAGATAACACCATTCTCAGTG 0.557000 17 40 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46684800 46684800 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr6:46684800G>A ENST00000274793.7 - 3 339 c.143C>T c.(142-144)gCt>gTt p.A48V PLA2G7_ENST00000538237.1_Missense_Mutation_p.A3V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A48V|PLA2G7_ENST00000541026.1_Intron NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 48 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) AAAGCTTGCAGCAGCCATCAG 0.368000 3 92 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 3 33 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22012551 22012551 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr12:22012551G>A ENST00000261200.4 - 20 2473 c.2474C>T c.(2473-2475)gCg>gTg p.A825V ABCC9_ENST00000261201.4_Missense_Mutation_p.A825V|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 825 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGATACAGCGCTCGTGCCAC 0.403000 3 80 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144930736 144930736 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:144930736C>T ENST00000529945.1 - 1 1412 c.973G>A c.(973-975)Ggc>Agc p.G325S PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGCTAGGGCCAGGCTTGGCT 0.498000 T PDGFRB MPD 7 103 0 0 1 0 0 ACTR3 10096 broad.mit.edu 37 2 114714958 114714958 + Missense_Mutation SNP C C G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr2:114714958C>G ENST00000263238.2 + 12 1503 c.1183C>G c.(1183-1185)Cac>Gac p.H395D ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 395 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 CCAAGTATGCCACACCAAAAA 0.338000 6 47 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122447397 122447397 + Missense_Mutation SNP T T G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:122447397T>G ENST00000474629.2 + 17 5625 c.5359T>G c.(5359-5361)Tat>Gat p.Y1787D NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1787 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TGTGGCATTTTATGACTACCA 0.363000 28 77 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135517391 135517391 + Splice_Site SNP C C A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:135517391C>A ENST00000372159.3 - 14 1906 c.1755_splice c.e14+1 p.T585_splice DDX31_ENST00000438527.3_Splice_Site_p.T456_splice|DDX31_ENST00000372153.1_Splice_Site_p.T585_splice|DDX31_ENST00000310532.2_Splice_Site_p.T585_splice NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 585 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GGATACGTACCGTGCAAAGAA 0.438000 6 26 3.59834e-05 3.93568e-05 1 1 0 ERCC3 2071 broad.mit.edu 37 2 128050246 128050246 + Silent SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr2:128050246G>A ENST00000493187.2 - 3 682 c.219C>T c.(217-219)acC>acT p.T73T ERCC3_ENST00000285398.2_Silent_p.T137T P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 137 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TGAGGTACTCGGTGATGTCAC 0.517000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 42 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3342257 3342257 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:3342257G>A ENST00000378398.3 + 14 3134 c.3052G>A c.(3052-3054)Ggg>Agg p.G1018R PRDM16_ENST00000378391.2_Missense_Mutation_p.G1018R|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1018R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G1019R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G1018R|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 1018 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCGCTGCTTCGGGCAGCAGAC 0.642000 T EVI1 """MDS, AML""" 15 65 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194169231 194169231 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:194169231G>A ENST00000439040.1 - 12 1896 c.1105C>T c.(1105-1107)Cgt>Tgt p.R369C ATP13A3_ENST00000256031.4_Missense_Mutation_p.R369C Q9H7F0 AT133_HUMAN ATPase type 13A3 369 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GTGTAGAAACGAGTCTGAATA 0.348000 12 86 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48628922 48628922 + Silent SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:48628922G>A ENST00000328333.8 - 12 1718 c.1611C>T c.(1609-1611)taC>taT p.Y537Y COL7A1_ENST00000454817.1_Silent_p.Y537Y NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 537 Fibronectin type-III 4.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAATGATGCGGTACTGGGTGG 0.652000 3 94 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7160686 7160686 + Silent SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr2:7160686G>A ENST00000320892.6 + 6 826 c.384G>A c.(382-384)caG>caA p.Q128Q RNF144A_ENST00000467276.1_3'UTR NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 128 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TGGGGCTGCAGACCCCCCAGC 0.627000 14 70 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 31 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162579 90162579 + RNA SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr16:90162579C>T ENST00000567960.1 + 0 1315 TUBB8P7_ENST00000564451.1_RNA AGGAGTATGCCGAGGAGGAGG 0.512000 3 122 0 0 1 0 0 PHF23 79142 broad.mit.edu 37 17 7140001 7140001 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr17:7140001G>A ENST00000320316.3 - 4 471 c.245C>T c.(244-246)tCa>tTa p.S82L PHF23_ENST00000571362.1_Intron|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 82 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 TCGAAGATCTGAGGGGGCCGA 0.572000 24 98 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 3 69 0 0 1 0 0 MFAP5 8076 broad.mit.edu 37 12 8800751 8800751 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr12:8800751C>T ENST00000359478.2 - 10 645 c.458G>A c.(457-459)cGc>cAc p.R153H MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 153 microfibril extracellular matrix structural constituent p.R153H(1) breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) GTAATTGGAGCGACGGAGTCT 0.463000 7 22 0 0 1 0 0 ZNF782 158431 broad.mit.edu 37 9 99581089 99581089 + Nonsense_Mutation SNP T T A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:99581089T>A ENST00000481138.1 - 6 1877 c.1216A>T c.(1216-1218)Aag>Tag p.K406* ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274* NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) AGGCGTGACTTCTCACTGAAG 0.443000 4 81 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134709032 134709032 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chrX:134709032G>A ENST00000370752.4 + 13 1988 c.1654G>A c.(1654-1656)Gca>Aca p.A552T DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 552 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TGTTCCAGTTGCACAAATGGG 0.413000 3 58 0 0 1 0 0 STXBP1 6812 broad.mit.edu 37 9 130438178 130438178 + Silent SNP T T C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:130438178T>C ENST00000373302.3 + 14 1345 c.1206T>C c.(1204-1206)taT>taC p.Y402Y STXBP1_ENST00000373299.1_Silent_p.Y402Y|STXBP1_ENST00000481942.1_3'UTR NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 402 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 TCAGCACTTATGACAAAATCC 0.512000 3 28 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 4 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr17:39274424G>C ENST00000391413.2 - 1 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672000 5 77 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107390917 107390917 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr6:107390917G>A ENST00000429433.2 - 5 2127 c.1478C>T c.(1477-1479)cCc>cTc p.P493L BEND3_ENST00000369042.1_Missense_Mutation_p.P493L NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 493 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 ATCACGCGGGGGGTCGCCTTC 0.682000 12 18 0 0 1 0 0 KCTD14 65987 broad.mit.edu 37 11 77734212 77734212 + Silent SNP C C A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr11:77734212C>A ENST00000353172.5 - 1 128 c.84G>T c.(82-84)cgG>cgT p.R28R RP11-7I15.4_ENST00000526730.1_RNA|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 28 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) TTACCGTTGGCCGCCTGGGCC 0.692000 5 54 1.6384e-10 1.84981e-10 1 1 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr4:190878646G>T ENST00000226798.4 + 6 748 c.526G>T c.(526-528)Gaa>Taa p.E176* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 176 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.E176*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAGAAGAAGAAATGATCAA 0.373000 3 38 4.096e-09 4.55111e-09 1 1 0 ANKH 56172 broad.mit.edu 37 5 14711384 14711384 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr5:14711384C>T ENST00000284268.6 - 12 1731 c.1401G>A c.(1399-1401)ggG>ggA p.G467G ANKH_ENST00000535119.1_Silent_p.G269G NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 467 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CAGAGTCTTCCCCCTCCGTGG 0.542000 44 133 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 3 35 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10709155 10709155 + Missense_Mutation SNP T T G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:10709155T>G ENST00000377022.3 - 15 3447 c.3130A>C c.(3130-3132)Acc>Ccc p.T1044P CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1044 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCGTCCAAGGTGCTGAAGAGC 0.622000 4 29 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15721039 15721039 + Missense_Mutation SNP T T G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:15721039T>G ENST00000399451.2 - 22 2698 c.2331A>C c.(2329-2331)gaA>gaC p.E777D ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 777 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 AAACTTCCTGTTCTAAAAGCA 0.368000 2 13 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3979978 3979978 + Nonsense_Mutation SNP C C A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr17:3979978C>A ENST00000381638.2 - 21 3311 c.3187G>T c.(3187-3189)Gaa>Taa p.E1063* ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1063 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TTCAGGAGTTCTGTGAGGACG 0.532000 9 16 0.000274275 0.000295373 1 1 0 OR5M8 219484 broad.mit.edu 37 11 56258763 56258763 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr11:56258763C>T ENST00000327216.2 - 1 108 c.84G>A c.(82-84)acG>acA p.T28T NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CCAGAAACAGCGTGAAGAGGA 0.507000 36 91 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3443797 3443797 + Silent SNP C C G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr4:3443797C>G ENST00000382774.3 + 1 184 c.69C>G c.(67-69)ctC>ctG p.L23L HGFAC_ENST00000511533.1_Silent_p.L23L NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 23 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCCTCCTCCTCCTGCTGCTGC 0.716000 2 12 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51489667 51489667 + Missense_Mutation SNP A A C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr14:51489667A>C ENST00000298355.3 - 3 2048 c.927T>G c.(925-927)agT>agG p.S309R TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 309 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CAAACTCCACACTGTTCTCCT 0.552000 11 42 0 0 1 0 0 TMIE 259236 broad.mit.edu 37 3 46747349 46747349 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr3:46747349C>T ENST00000326431.3 + 2 318 c.163C>T c.(163-165)Cgc>Tgc p.R55C NM_147196.2 NP_671729.2 Q8NEW7 TMIE_HUMAN transmembrane inner ear 55 integral to membrane endometrium(1)|lung(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CTGGGACATGCGCCTGTGGCA 0.607000 OREG0015540 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 91 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117071687 117071687 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr9:117071687C>T ENST00000356083.3 + 60 5756 c.5365C>T c.(5365-5367)Cgg>Tgg p.R1789W NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1789 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CGTACGCTTCCGGGCCTGGAA 0.607000 19 83 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579685 82579685 + Missense_Mutation SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr7:82579685C>T ENST00000423517.2 - 6 10556 c.10219G>A c.(10219-10221)Gaa>Aaa p.E3407K PCLO_ENST00000437081.1_Missense_Mutation_p.E127K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3407K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3338 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTTGTTTTTCCTCTTTCACA 0.418000 9 47 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869832 151869832 + Silent SNP C C T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chrX:151869832C>T ENST00000329342.5 + 3 747 c.522C>T c.(520-522)caC>caT p.H174H NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 174 MAGE. protein binding p.H174H(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCATCGGCCACGTGTACATCT 0.532000 3 60 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390650 158390650 + Missense_Mutation SNP G G A TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:158390650G>A ENST00000314902.2 - 1 6 c.7C>T c.(7-9)Cgg>Tgg p.R3W NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TCATTGACCCGCTCCATGGAG 0.478000 3 34 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215963438 215963438 + Missense_Mutation SNP A A T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr1:215963438A>T ENST00000366943.2 - 51 10531 c.10145T>A c.(10144-10146)gTt>gAt p.V3382D USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3382 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCAGAGCAAACATATTTCAA 0.378000 HNSCC(13;0.011) 13 47 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21464873 21464874 + Frame_Shift_Ins INS - - T TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr14:21464873_21464874insT ENST00000382985.4 + 13 1291_1292 c.1268_1269insT c.(1267-1269)tggfs p.W423fs METTL17_ENST00000556670.2_Intron|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000339374.6_Intron Q9H7H0 MET17_HUMAN methyltransferase like 17 0 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 CACGGCAGGTATGGGGGGTGTG 0.589 9 147 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 3 5 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 4 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15311619 15311621 + In_Frame_Del DEL AGC AGC - TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx e584de7a-84e8-4844-baec-3e5c0e6fbb9d 557d13df-5e0a-415f-847d-60d0b16f88c0 g.chr19:15311619_15311621delAGC ENST00000263388.2 - 1 171_173 c.96_98delGCT c.(94-99)cta>ct p.LL32del NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 32 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGCCCCGCTAGCAGCAGCAGCA 0.808 2 4 --- --- --- ---