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 CYP26B1 56603 broad.mit.edu 37 2 72362467 72362467 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:72362467C>A ENST00000001146.2 - 3 714 c.511G>T c.(511-513)Gcc>Tcc p.A171S CYP26B1_ENST00000412253.1_5'UTR|CYP26B1_ENST00000546307.1_Missense_Mutation_p.A96S NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 171 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 CTGCTCCAGGCGCGCAGTGTG 0.617000 5 103 0.014758 0.0158932 1 1 0 CPSF2 53981 broad.mit.edu 37 14 92627534 92627534 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr14:92627534C>G ENST00000298875.4 + 15 2485 c.2200C>G c.(2200-2202)Caa>Gaa p.Q734E NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 734 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) GGAGGGGATTCAAGCTGAATT 0.428000 4 68 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89656982 89656982 + Missense_Mutation SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:89656982G>C ENST00000355754.6 - 6 975 c.878C>G c.(877-879)aCc>aGc p.T293S NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 293 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) CAGGGTCTTGGTCTTTGCATG 0.413000 4 52 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43818105 43818105 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr9:43818105G>A ENST00000377564.3 + 7 1385 c.992G>A c.(991-993)gGg>gAg p.G331E CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.G331E NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 331 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCTTTCATGGGTGTTTAGAA 0.388000 3 32 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170277 36170277 + Missense_Mutation SNP C C T rs140883913 byFrequency TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr9:36170277C>T ENST00000335119.2 + 1 889 c.778C>T c.(778-780)Cgc>Tgc p.R260C NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 260 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CCTGATGGACCGCAAGCAGGA 0.587000 9 45 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52673893 52673893 + Nonsense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr13:52673893G>A ENST00000355568.4 - 12 1151 c.1012C>T c.(1012-1014)Cag>Tag p.Q338* NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 338 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTGGCCTTCTGGGCTCCAGCT 0.408000 13 32 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589746 140589746 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr5:140589746G>A ENST00000239450.2 + 1 1456 c.1267G>A c.(1267-1269)Gtc>Atc p.V423I PCDHB12_ENST00000541609.1_Missense_Mutation_p.V86I NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 423 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACCATCACCGTCACCGACTT 0.517000 6 103 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66453366 66453366 + Missense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr11:66453366G>T ENST00000533211.1 - 38 7480 c.7149C>A c.(7147-7149)ttC>ttA p.F2383L SPTBN2_ENST00000529997.1_3'UTR|SPTBN2_ENST00000309996.2_Missense_Mutation_p.F2383L O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2383 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TAAAGAAGCTGAAGCGTTTTT 0.612000 7 84 1.06961e-07 1.30214e-07 1 1 0 ZNF250 58500 broad.mit.edu 37 8 146108179 146108179 + Missense_Mutation SNP G G A rs143336224 TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr8:146108179G>A ENST00000292579.7 - 6 520 c.404C>T c.(403-405)cCg>cTg p.P135L ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.P130L NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TAATGGCTTCGGACTCAAGTC 0.383000 7 94 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134645358 134645358 + Silent SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr7:134645358G>A ENST00000361388.2 + 13 2053 c.1587G>A c.(1585-1587)aaG>aaA p.K529K CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361675.2_Silent_p.K758K|CALD1_ENST00000424922.1_Silent_p.K497K|CALD1_ENST00000361901.2_Silent_p.K503K|CALD1_ENST00000543443.1_Silent_p.K508K|CALD1_ENST00000417172.1_Silent_p.K503K|CALD1_ENST00000393118.2_Silent_p.K523K|CALD1_ENST00000495522.1_Silent_p.K522K|CALD1_ENST00000422748.1_Silent_p.K528K NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 758 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 ATGGAAACAAGTCACCTGCTC 0.438000 5 19 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr17:7578271T>A ENST00000420246.2 - 6 710 c.578A>T c.(577-579)cAt>cTt p.H193L TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 37 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2463960 2463960 + Nonsense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr20:2463960G>T ENST00000278772.4 - 6 2134 c.1647C>A c.(1645-1647)taC>taA p.Y549* RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 CACTGCACACGTAAGGCTTCT 0.502000 6 55 2.0095e-06 2.3943e-06 1 1 0 PIKFYVE 200576 broad.mit.edu 37 2 209138435 209138435 + Silent SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:209138435C>T ENST00000264380.4 + 3 458 c.300C>T c.(298-300)ctC>ctT p.L100L PIKFYVE_ENST00000392202.3_Silent_p.L100L|PIKFYVE_ENST00000407449.1_Silent_p.L100L|PIKFYVE_ENST00000308862.6_Silent_p.L100L NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 100 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ATGAGGAACTCCAGCGGCGCT 0.443000 5 60 0 0 1 0 0 MYC 4609 broad.mit.edu 37 8 128750809 128750809 + Missense_Mutation SNP A A G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr8:128750809A>G ENST00000377970.2 + 2 856 c.346A>G c.(346-348)Atg>Gtg p.M116V MYC_ENST00000259523.6_Missense_Mutation_p.M101V|MYC_ENST00000524013.1_Missense_Mutation_p.M115V NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 101 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) CCAGCTGGAGATGGTGACCGA 0.602000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 32 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579486 11579486 + Missense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:11579486G>T ENST00000294484.6 + 8 2102 c.1964G>T c.(1963-1965)gGa>gTa p.G655V PTCHD2_ENST00000389575.3_Missense_Mutation_p.G655V NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 655 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GAGCAGGTTGGAGGCAGCCCT 0.637000 10 162 3.86212e-05 4.36927e-05 1 1 0 AGMAT 79814 broad.mit.edu 37 1 15905400 15905400 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:15905400C>T ENST00000375826.3 - 4 816 c.674G>A c.(673-675)cGg>cAg p.R225Q DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 225 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) GGAAGAGCCCCGGATGCCAAT 0.602000 4 30 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95718600 95718600 + RNA SNP T T C rs11815169 by1000genomes TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr10:95718600T>C ENST00000480546.1 - 0 2697 NR_002319.2 TCCTTCTTGCTGTCCTTGGTG 0.547000 3 35 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342649 65342649 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr3:65342649C>T ENST00000402939.2 - 23 3792 c.3793G>A c.(3793-3795)Gat>Aat p.D1265N MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1294 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCTTTCGGATCCCTTGCGTGT 0.592000 8 117 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113848603 113848603 + Missense_Mutation SNP A A T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr11:113848603A>T ENST00000504030.2 + 2 623 c.178A>T c.(178-180)Acc>Tcc p.T60S HTR3A_ENST00000506841.2_Missense_Mutation_p.T60S|HTR3A_ENST00000299961.5_Missense_Mutation_p.T45S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Missense_Mutation_p.T66S|HTR3A_ENST00000355556.2_Missense_Mutation_p.T66S P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 60 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GAAGCCAACCACCGTATCCAT 0.592000 5 72 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283199 152283199 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:152283199C>T ENST00000368799.1 - 3 4198 c.4163G>A c.(4162-4164)cGa>cAa p.R1388Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1388 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGGACCCTCGGTGTCCACT 0.562000 Ichthyosis 16 480 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92627506 92627506 + Silent SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr14:92627506C>T ENST00000298875.4 + 15 2457 c.2172C>T c.(2170-2172)ttC>ttT p.F724F NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 724 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TGTCAGACTTCAAGCAAGTTC 0.413000 4 61 0 0 1 0 0 IFNA10 3446 broad.mit.edu 37 9 21206819 21206819 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr9:21206819G>A ENST00000357374.2 - 1 323 c.278C>T c.(277-279)aCa>aTa p.T93I NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 93 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TGAGTCCTCTGTGCTGAAGAG 0.493000 14 69 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88478006 88478006 + Missense_Mutation SNP A A G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr14:88478006A>G ENST00000267549.3 + 2 1373 c.815A>G c.(814-816)tAt>tGt p.Y272C RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 272 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TACACAATGTATAGAATCACG 0.373000 4 31 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33684076 33684076 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr13:33684076G>A ENST00000336934.5 - 12 3097 c.2981C>T c.(2980-2982)aCa>aTa p.T994I STARD13_ENST00000255486.4_Missense_Mutation_p.T986I|STARD13_ENST00000399365.3_Missense_Mutation_p.T876I NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 994 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GTAGATCTCTGTTTGCCTGTC 0.537000 OREG0022359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 68 0 0 1 0 0 SEMA6B 10501 broad.mit.edu 37 19 4554407 4554407 + Missense_Mutation SNP A A C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr19:4554407A>C ENST00000586582.1 - 9 1074 c.764T>G c.(763-765)cTg>cGg p.L255R SEMA6B_ENST00000301293.3_Missense_Mutation_p.L255R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.L255R NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 255 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CACCTTCTCCAGGTAGTTAAA 0.567000 4 21 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958498 143958498 + Missense_Mutation SNP T T G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr8:143958498T>G ENST00000292427.4 - 3 568 c.536A>C c.(535-537)aAc>aCc p.N179T CYP11B1_ENST00000377675.3_Missense_Mutation_p.N250T|CYP11B1_ENST00000517471.1_Missense_Mutation_p.N179T NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 179 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CCCCCGGGCGTTCTGCAGCAC 0.622000 Familial Hyperaldosteronism type I 3 28 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38855744 38855744 + Missense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr19:38855744G>T ENST00000409235.3 + 22 2715 c.2600G>T c.(2599-2601)gGg>gTg p.G867V CATSPERG_ENST00000410018.1_Missense_Mutation_p.G827V|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 867 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ACACACCTGGGGCCCCATATG 0.597000 7 59 0.000157383 0.000176269 1 1 0 TRIM58 25893 broad.mit.edu 37 1 248039760 248039760 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:248039760C>T ENST00000366481.3 + 6 1478 c.1430C>T c.(1429-1431)cCt>cTt p.P477L OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 477 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CATTTAGATCCTGCTTCTGAT 0.448000 4 48 0 0 1 0 0 POFUT1 23509 broad.mit.edu 37 20 30804817 30804817 + Silent SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr20:30804817G>A ENST00000375730.3 + 5 598 c.549G>A c.(547-549)gaG>gaA p.E183E POFUT1_ENST00000375749.3_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000539210.1_Intron NM_172236.1 NP_758436.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 0 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity p.E183E(1) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTAGGCGTGAGAATCACTCCT 0.458000 3 38 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234345041 234345041 + Missense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:234345041G>T ENST00000264057.2 + 7 785 c.773G>T c.(772-774)aGt>aTt p.S258I DGKD_ENST00000409813.3_Missense_Mutation_p.S214I NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 258 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) ACCTGTGGCAGTGTGCTGCGC 0.637000 4 69 0.150653 0.153393 1 1 0 CDC5L 988 broad.mit.edu 37 6 44371653 44371653 + Missense_Mutation SNP T T G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr6:44371653T>G ENST00000371477.3 + 6 946 c.647T>G c.(646-648)tTt>tGt p.F216C NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 216 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAAATCCCATTTGAAAAAAAG 0.403000 6 37 0 0 1 0 0 EDARADD 128178 broad.mit.edu 37 1 236645797 236645797 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:236645797G>A ENST00000359362.5 + 6 680 c.466G>A c.(466-468)Gag>Aag p.E156K EDARADD_ENST00000334232.4_Missense_Mutation_p.E166K NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 166 Death. cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CCCCACCTTGGAGTTCTTGCT 0.572000 8 87 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080810 126080810 + Silent SNP C C T rs146693390 TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr6:126080810C>T ENST00000368364.3 + 5 1073 c.876C>T c.(874-876)aaC>aaT p.N292N HEY2_ENST00000368365.1_Silent_p.N246N NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 292 Ala-rich. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) TTCCCCCAAACGCAGCAGCAG 0.647000 15 257 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14063097 14063097 + RNA SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr11:14063097G>A ENST00000310358.7 + 0 913 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CTCAGTTTATGAGCAATTGCC 0.478000 5 120 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100933521 100933521 + Missense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:100933521G>T ENST00000336454.3 + 10 1203 c.848G>T c.(847-849)gGa>gTa p.G283V CDC14A_ENST00000544534.1_Missense_Mutation_p.G283V|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000361544.6_Missense_Mutation_p.G283V|CDC14A_ENST00000370124.3_Missense_Mutation_p.G283V|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.G225V NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 283 B. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) GCTGGTCTTGGAAGAACAGGG 0.383000 4 61 0.150653 0.153393 1 1 0 FLG 2312 broad.mit.edu 37 1 152282974 152282974 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:152282974C>G ENST00000368799.1 - 3 4423 c.4388G>C c.(4387-4389)gGa>gCa p.G1463A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1463 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGTCTTCCTCCAGTGCTGGG 0.572000 Ichthyosis 11 323 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34185257 34185257 + Nonsense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr17:34185257C>A ENST00000311880.2 - 11 1247 c.1099G>T c.(1099-1101)Gag>Tag p.E367* C17orf66_ENST00000592980.1_Nonsense_Mutation_p.E327* NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 367 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GTGAGTTCCTCTAGCCCCTGT 0.537000 10 145 3.86212e-05 4.36927e-05 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151860499 151860499 + Missense_Mutation SNP T T C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr7:151860499T>C ENST00000355193.2 - 43 10381 c.10163A>G c.(10162-10164)aAc>aGc p.N3388S KMT2C_ENST00000262189.6_Missense_Mutation_p.N3388S lysine (K)-specific methyltransferase 2C AAAGGGATTGTTGTCATCAAA 0.453000 8 114 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175664886 175664886 + Silent SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:175664886C>A ENST00000409900.3 - 13 1651 c.1338G>T c.(1336-1338)ctG>ctT p.L446L CHN1_ENST00000409597.1_Silent_p.L262L|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Silent_p.L321L|CHN1_ENST00000409156.3_Silent_p.L420L NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 446 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GCTCCACCACCAGTCTCTGAT 0.373000 T TAF15 extraskeletal myxoid chondrosarcoma 5 30 1.23904e-05 1.43064e-05 1 1 0 P4HTM 54681 broad.mit.edu 37 3 49038897 49038897 + Missense_Mutation SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr3:49038897G>C ENST00000343546.4 + 3 831 c.463G>C c.(463-465)Gag>Cag p.E155Q P4HTM_ENST00000383729.4_Missense_Mutation_p.E155Q|P4HTM_ENST00000468374.1_3'UTR NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 155 endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) GACTGATGAAGAGTGTCGGCT 0.567000 5 37 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596970 142596970 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chrX:142596970C>G ENST00000370503.2 - 2 183 c.100G>C c.(100-102)Gtc>Ctc p.V34L GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 34 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) GGGGCTAAGACTCTGTTTGGT 0.383000 7 39 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101763579 101763579 + Splice_Site SNP T T C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr13:101763579T>C ENST00000251127.6 - 19 2274 c.e19-2 NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTGCAAGCTCTAGGAAAAAAA 0.458000 7 60 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228104 39228104 + Silent SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr3:39228104G>T ENST00000340369.3 - 2 3061 c.2833C>A c.(2833-2835)Cgg>Agg p.R945R XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R945R NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 945 actin binding p.R945W(1) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGCTCCCACCGCAGACTGTGC 0.642000 7 61 0.0293803 0.0310434 1 1 0 NAT10 55226 broad.mit.edu 37 11 34156118 34156118 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr11:34156118C>A ENST00000257829.3 + 18 2102 c.1896C>A c.(1894-1896)caC>caA p.H632Q NAT10_ENST00000531159.2_Missense_Mutation_p.H560Q|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 632 N-acetyltransferase. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TTGCTGTTCACCCAGATTATC 0.527000 7 69 0.00198382 0.00219988 1 1 0 COL9A2 1298 broad.mit.edu 37 1 40773385 40773385 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:40773385G>A ENST00000372748.3 - 18 1040 c.944C>T c.(943-945)cCt>cTt p.P315L NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 315 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CTTCATGCCAGGCGTGCCTGG 0.612000 5 25 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65156439 65156439 + Silent SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr17:65156439G>C ENST00000358691.5 - 17 2281 c.2115C>G c.(2113-2115)ctC>ctG p.L705L HELZ_ENST00000580168.1_Silent_p.L706L NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CCTTTATGTAGAGATCAGCAG 0.343000 5 25 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49062390 49062390 + Missense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr3:49062390G>T ENST00000326739.4 - 11 1273 c.1234C>A c.(1234-1236)Cgc>Agc p.R412S NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 412 IMP binding (By similarity). GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCCATACCGCGATATTTCTTT 0.542000 5 56 0.014758 0.0158932 1 1 0 HOXA3 3200 broad.mit.edu 37 7 27147855 27147855 + Silent SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr7:27147855C>A ENST00000396352.4 - 3 1210 c.1011G>T c.(1009-1011)ggG>ggT p.G337G HOXA3_ENST00000317201.2_Silent_p.G337G|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 337 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CGGGGGTGCCCCCTGCGCCCG 0.726000 7 20 5.18039e-06 6.10741e-06 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25468218 25468218 + RNA SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr15:25468218G>C ENST00000453082.2 + 0 766 NR_003343.1 GGTGAGACTTGAGGAAGACTT 0.617000 3 23 0 0 1 0 0 TRIM21 6737 broad.mit.edu 37 11 4409627 4409627 + Missense_Mutation SNP T T A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr11:4409627T>A ENST00000254436.7 - 4 750 c.638A>T c.(637-639)gAg>gTg p.E213V TRIM21_ENST00000543625.1_Missense_Mutation_p.E213V NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 213 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GGCCTCTTTCTCCCCCAGGAT 0.562000 14 130 0 0 1 0 0 PNPLA4 8228 broad.mit.edu 37 X 7870101 7870101 + Nonsense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chrX:7870101G>A ENST00000381042.4 - 6 729 c.559C>T c.(559-561)Cga>Tga p.R187* PNPLA4_ENST00000537427.1_Nonsense_Mutation_p.R100*|PNPLA4_ENST00000444736.1_Nonsense_Mutation_p.R187* NM_004650.2 NP_004641.1 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 187 R -> Q (in dbSNP:rs2231793). lipid catabolic process triglyceride lipase activity kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) ATGTCCAGTCGTCCACTGAAG 0.512000 8 76 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12326017 12326017 + Missense_Mutation SNP A A C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr18:12326017A>C ENST00000317702.5 + 4 1463 c.1229A>C c.(1228-1230)gAg>gCg p.E410A TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 410 '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) GAGTTCACCGAGGCGGAGAGC 0.572000 7 164 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57935351 57935351 + Missense_Mutation SNP T T A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chrX:57935351T>A ENST00000358697.4 - 1 1716 c.1504A>T c.(1504-1506)Att>Ttt p.I502F NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 502 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 AGGTGGGTAATGCTGTGGCCT 0.547000 5 63 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35985841 35985841 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chrX:35985841G>A ENST00000297866.5 + 10 1772 c.1706G>A c.(1705-1707)cGc>cAc p.R569H NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 569 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GCCATGACACGCACTCACAAT 0.453000 4 50 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30297202 30297202 + Silent SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr6:30297202G>A ENST00000376659.5 + 3 706 c.108G>A c.(106-108)ctG>ctA p.L36L TRIM39_ENST00000396551.3_Silent_p.L36L|TRIM39_ENST00000396548.1_Silent_p.L36L|TRIM39_ENST00000396547.1_Silent_p.L36L|TRIM39_ENST00000376656.4_Silent_p.L36L|TRIM39_ENST00000540416.1_Silent_p.L36L NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 TGGAGTATCTGAAGGAACCTG 0.557000 9 143 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105886139 105886139 + Missense_Mutation SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:105886139G>C ENST00000393359.2 - 11 2422 c.1996C>G c.(1996-1998)Ccc>Gcc p.P666A TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P666A Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 666 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTCTCCATGGGCAGGCCAGCT 0.647000 4 24 0 0 1 0 0 VSIG8 391123 broad.mit.edu 37 1 159828685 159828685 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:159828685G>A ENST00000368100.1 - 2 202 c.67C>T c.(67-69)Cgg>Tgg p.R23W RP11-190A12.7_ENST00000544342.1_Missense_Mutation_p.A30V NM_001013661.1 NP_001013683.1 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 23 Ig-like V-type 1. integral to membrane central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(112;0.0597) CCGTTGATCCGCACAGCAGAC 0.587000 3 34 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29041259 29041259 + Nonsense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr18:29041259G>T ENST00000257189.4 + 8 966 c.883G>T c.(883-885)Gaa>Taa p.E295* NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 295 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGATTTGGATGAAGAGTACAC 0.338000 9 21 7.48243e-07 9.0111e-07 1 1 0 ZNF250 58500 broad.mit.edu 37 8 146108192 146108192 + Missense_Mutation SNP T T C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr8:146108192T>C ENST00000292579.7 - 6 507 c.391A>G c.(391-393)Aca>Gca p.T131A ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.T126A NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) CTCAAGTCTGTATTTTGACTC 0.383000 6 84 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587708 43587708 + RNA SNP A A G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr17:43587708A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAACCACCATCTCCAAATC 0.348000 4 21 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147744204 147744204 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chrX:147744204C>T ENST00000370460.2 + 3 1435 c.956C>T c.(955-957)tCa>tTa p.S319L AFF2_ENST00000342251.3_Missense_Mutation_p.S315L|AFF2_ENST00000370457.5_Missense_Mutation_p.S315L|AFF2_ENST00000370458.1_Missense_Mutation_p.S315L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 319 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GGGAATCTGTCATTTGGAACA 0.443000 5 62 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155264485 155264485 + Silent SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:155264485G>A ENST00000392414.3 - 6 773 c.660C>T c.(658-660)ggC>ggT p.G220G PKLR_ENST00000342741.4_Silent_p.G251G NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 251 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.G251G(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCAAGTTCACGCCCTTCCGGC 0.672000 6 37 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320607 79320607 + Missense_Mutation SNP T T C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr9:79320607T>C ENST00000428286.1 - 8 6706 c.5506A>G c.(5506-5508)Ata>Gta p.I1836V PRUNE2_ENST00000376718.3_Missense_Mutation_p.I2195V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2195 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCACCGTTTATTTCAGAAGGT 0.458000 10 70 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023035 18023035 + Silent SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr17:18023035C>T ENST00000205890.5 + 2 1259 c.921C>T c.(919-921)taC>taT p.Y307Y NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 307 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTACGGCTACGGCTACGACG 0.617000 18 107 0 0 1 0 0 CCDC24 149473 broad.mit.edu 37 1 44461719 44461719 + Nonsense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:44461719C>T ENST00000372318.3 + 9 982 c.811C>T c.(811-813)Cga>Tga p.R271* SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron NM_152499.1 NP_689712.1 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 271 endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GCCCTACCTTCGACCTCGAGG 0.677000 8 68 0 0 1 0 0 EIF4A2 1974 broad.mit.edu 37 3 186506920 186506920 + Silent SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr3:186506920C>T ENST00000323963.5 + 11 1150 c.1086C>T c.(1084-1086)ggC>ggT p.G362G EIF4A2_ENST00000356531.5_Silent_p.G267G|EIF4A2_ENST00000440191.2_Silent_p.G363G Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 362 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) ACAGAATTGGCAGAGGGGGTC 0.398000 T BCL6 NHL 10 73 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328152 88328152 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr13:88328152C>A ENST00000325089.6 + 2 728 c.509C>A c.(508-510)cCc>cAc p.P170H SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 170 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCATTGAACCCAATGCTTTT 0.423000 5 39 1.23904e-05 1.43064e-05 1 1 0 OR2A12 346525 broad.mit.edu 37 7 143792587 143792587 + Missense_Mutation SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr7:143792587G>C ENST00000408949.2 + 1 447 c.387G>C c.(385-387)ttG>ttC p.L129F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GTCACCCCTTGCAATACACCC 0.428000 18 74 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346527 29346527 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr15:29346527C>A ENST00000558402.1 + 5 1039 c.440C>A c.(439-441)cCg>cAg p.P147Q APBA2_ENST00000561069.1_Missense_Mutation_p.P147Q|APBA2_ENST00000411764.1_Missense_Mutation_p.P147Q|APBA2_ENST00000558330.1_Missense_Mutation_p.P147Q|APBA2_ENST00000558259.1_Missense_Mutation_p.P147Q Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 147 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TCGGCGGGCCCGCACCCCCAC 0.667000 4 68 0.217242 0.219199 1 1 0 LCOR 84458 broad.mit.edu 37 10 98708926 98708926 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr10:98708926C>G ENST00000540664.1 + 6 655 c.112C>G c.(112-114)Cca>Gca p.P38A LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371097.4_Missense_Mutation_p.P38A|LCOR_ENST00000356016.3_Missense_Mutation_p.P38A|LCOR_ENST00000371103.3_Missense_Mutation_p.P38A NM_001170765.1|NM_001170766.1 NP_001164236.1|NP_001164237.1 ligand dependent nuclear receptor corepressor endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) GAAAGCATCTCCAGTCACCAC 0.498000 6 96 0 0 1 0 0 MC2R 4158 broad.mit.edu 37 18 13884723 13884723 + Silent SNP G G T rs141349908 byFrequency TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr18:13884723G>T ENST00000327606.3 - 2 975 c.795C>A c.(793-795)atC>atA p.I265I NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 265 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) CATTGCACATGATCAACATGC 0.517000 5 52 0.014758 0.0158932 1 1 0 ANGEL2 90806 broad.mit.edu 37 1 213178425 213178425 + Missense_Mutation SNP T T A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:213178425T>A ENST00000366962.3 - 5 1238 c.1084A>T c.(1084-1086)Agt>Tgt p.S362C ANGEL2_ENST00000540642.1_Missense_Mutation_p.S236C|ANGEL2_ENST00000544555.1_Missense_Mutation_p.S193C|ANGEL2_ENST00000360506.2_Missense_Mutation_p.S193C|ANGEL2_ENST00000535388.1_Missense_Mutation_p.S193C NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 362 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) TTTATGAAACTATATAGTGGA 0.413000 6 47 0 0 1 0 0 MRAS 22808 broad.mit.edu 37 3 138121022 138121022 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr3:138121022C>T ENST00000289104.4 + 6 1185 c.538C>T c.(538-540)Ccg>Tcg p.P180S MRAS_ENST00000474559.1_Missense_Mutation_p.P180S|MRAS_ENST00000464896.1_Missense_Mutation_p.P104S|MRAS_ENST00000423968.2_Missense_Mutation_p.P180S NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 180 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 GCAACAGATTCCGGAAAAAAG 0.507000 6 48 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48050414 48050414 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:48050414C>G ENST00000403359.3 - 12 1556 c.1484G>C c.(1483-1485)tGt>tCt p.C495S FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.C411S|FBXO11_ENST00000316377.4_Missense_Mutation_p.C411S NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 495 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTGAATTTCACATCGAACCAC 0.373000 """Mis, F, D""" DLBCL 3 26 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734961 12734961 + Missense_Mutation SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chrX:12734961G>C ENST00000380682.1 + 15 2889 c.2383G>C c.(2383-2385)Gag>Cag p.E795Q NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 795 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGATGACAATGAGGATGACTT 0.562000 11 184 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688518 109688518 + Missense_Mutation SNP A A T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr9:109688518A>T ENST00000277225.5 + 3 2614 c.2325A>T c.(2323-2325)agA>agT p.R775S ZNF462_ENST00000457913.1_Missense_Mutation_p.R775S Q96JM2 ZN462_HUMAN zinc finger protein 462 775 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCAACTTCAGAAACATCACCC 0.463000 5 52 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16504268 16504268 + Nonstop_Mutation SNP A A C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr4:16504268A>C ENST00000304523.5 - 8 1443 c.1120T>G c.(1120-1122)Taa>Gaa p.*374E RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Nonstop_Mutation_p.*372E|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 0 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 CGATCATCTTATTGGGAAGCC 0.488000 16 183 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38176670 38176670 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chrX:38176670C>G ENST00000378505.2 - 6 694 c.518G>C c.(517-519)gGt>gCt p.G173A RPGR_ENST00000309513.3_Missense_Mutation_p.G173A|RPGR_ENST00000342811.3_Missense_Mutation_p.G173A|RPGR_ENST00000339363.3_Missense_Mutation_p.G173A|RPGR_ENST00000318842.7_Missense_Mutation_p.G173A|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.G173A NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 173 G -> R (in RP3 and RPDSI). intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 ATTTTTTAAACCAATTTGCCC 0.398000 3 24 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71939464 71939464 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr11:71939464C>G ENST00000298229.2 + 3 523 c.319C>G c.(319-321)Cag>Gag p.Q107E INPPL1_ENST00000541756.1_5'UTR|INPPL1_ENST00000538751.1_5'UTR NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 107 SH2. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CCAGCCCAACCAGGGCCTTGT 0.662000 6 102 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116412045 116412045 + Splice_Site SNP T T G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr7:116412045T>G ENST00000397752.3 + 14 3228 c.e14+2 MET_ENST00000318493.6_Splice_Site NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.?(3)|p.982_1028del47(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTCCAGAAGGTATATTTCAGT 0.343000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 7 19 0 0 1 0 0 CXCL9 4283 broad.mit.edu 37 4 76924829 76924829 + Silent SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr4:76924829C>T ENST00000264888.5 - 4 338 c.300G>A c.(298-300)aaG>aaA p.K100K RP11-630D6.5_ENST00000501239.2_RNA NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 100 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity p.K100N(1) large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTTCCCATTCTTTTGCTTTT 0.353000 3 36 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189943259 189943259 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:189943259C>A ENST00000374866.3 - 16 1316 c.1042G>T c.(1042-1044)Ggg>Tgg p.G348W NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 348 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCTGTGGCCCAAGTCTCCCT 0.413000 10 111 9.70103e-10 1.19397e-09 1 1 0 KCTD1 284252 broad.mit.edu 37 18 24035843 24035843 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr18:24035843C>G ENST00000417602.1 - 5 2461 c.2462G>C c.(2461-2463)aGa>aCa p.R821T KCTD1_ENST00000579973.1_Missense_Mutation_p.R213T|KCTD1_ENST00000408011.3_Missense_Mutation_p.R213T|KCTD1_ENST00000580059.1_Missense_Mutation_p.R213T|KCTD1_ENST00000317932.7_Missense_Mutation_p.R213T NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 213 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) TTCAAATCCTCTTTGCTGCAA 0.552000 4 70 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155147917 155147917 + Missense_Mutation SNP A A T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:155147917A>T ENST00000392451.2 + 2 202 c.119A>T c.(118-120)tAc>tTc p.Y40F TRIM46_ENST00000368385.4_Missense_Mutation_p.Y40F|TRIM46_ENST00000368383.3_Missense_Mutation_p.Y40F|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Missense_Mutation_p.Y47F|TRIM46_ENST00000368382.1_Missense_Mutation_p.Y17F|TRIM46_ENST00000334634.4_Missense_Mutation_p.Y40F|TRIM46_ENST00000468878.1_3'UTR Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 40 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CAAGAGATGTACAAGCAGCCA 0.597000 11 124 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 69 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3349433 3349433 + Silent SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr16:3349433G>A ENST00000396862.1 - 2 3010 c.1182C>T c.(1180-1182)acC>acT p.T394T TIGD7_ENST00000268674.2_Silent_p.T394T NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 394 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 CATTTGCTATGGTTATTTGTT 0.303000 8 80 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923323 24923323 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr15:24923323C>A ENST00000329468.2 + 1 2783 c.2309C>A c.(2308-2310)cCt>cAt p.P770H NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGAGCCACCCCTCAACCCAAA 0.567000 7 199 0.27861 0.27861 1 1 0 CNN2 1265 broad.mit.edu 37 19 1037755 1037755 + Silent SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr19:1037755C>T ENST00000263097.4 + 7 1149 c.786C>T c.(784-786)ttC>ttT p.F262F CNN2_ENST00000348419.3_Silent_p.F223F|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Silent_p.F283F|CNN2_ENST00000565096.2_Silent_p.F251F NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 262 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGGTCTTCGGCCTGGGCC 0.647000 16 203 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685396 100685396 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr7:100685396C>A ENST00000306151.4 + 3 10763 c.10699C>A c.(10699-10701)Cgt>Agt p.R3567S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3567 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCACTATGCGTATGTCTAC 0.473000 31 179 1.30897e-18 1.62894e-18 1 1 0 PLEKHH2 130271 broad.mit.edu 37 2 43968145 43968145 + Missense_Mutation SNP C C A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:43968145C>A ENST00000282406.4 + 21 3294 c.3184C>A c.(3184-3186)Ctc>Atc p.L1062I NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1062 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTCCTGTGGCTCCTCAGGCT 0.522000 7 84 0.0293803 0.0310434 1 1 0 ABCC3 8714 broad.mit.edu 37 17 48742525 48742525 + Silent SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr17:48742525C>T ENST00000285238.8 + 11 1430 c.1350C>T c.(1348-1350)ccC>ccT p.P450P ABCC3_ENST00000427699.1_Silent_p.P450P NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 450 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) ACCTAGGTCCCTCTGTCCTGG 0.542000 9 62 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10450905 10450905 + Missense_Mutation SNP G G A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr17:10450905G>A ENST00000245503.5 - 4 619 c.235C>T c.(235-237)Ccc>Tcc p.P79S MYH2_ENST00000397183.2_Missense_Mutation_p.P79S|MYH2_ENST00000532183.1_Missense_Mutation_p.P79S|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 79 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GGGTTCATGGGGAAGACCTGA 0.418000 14 125 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82533609 82533609 + Splice_Site SNP A A T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr15:82533609A>T ENST00000268206.7 - 5 547 c.e5+1 EFTUD1_ENST00000359445.3_Splice_Site NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 ACAATCCATTACCTGTGGACA 0.438000 3 37 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120088 103120088 + Missense_Mutation SNP T T C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:103120088T>C ENST00000295269.4 + 3 1359 c.902T>C c.(901-903)aTt>aCt p.I301T NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 301 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ATCTCTGCAATTGAGCCACTC 0.448000 7 46 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756147 248756147 + Missense_Mutation SNP T T C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:248756147T>C ENST00000330500.2 - 1 953 c.923A>G c.(922-924)cAg>cGg p.Q308R NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGAGGTTTCTGCACGCTCAG 0.388000 3 37 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155653 12155653 + Missense_Mutation SNP C C G TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr19:12155653C>G ENST00000602107.1 - 5 703 c.704G>C c.(703-705)aGa>aCa p.R235T CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R188T C9JN71 ZN878_HUMAN zinc finger protein 878 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TCTTTCATGTCTACGAACAGA 0.403000 6 124 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437928 179437928 + Missense_Mutation SNP T T C rs56201325 by1000genomes TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr2:179437928T>C ENST00000589042.1 - 326 73155 c.72931A>G c.(72931-72933)Acc>Gcc p.T24311A TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22670A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15246A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15371A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15438A|TTN_ENST00000342992.6_Missense_Mutation_p.T21743A|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22670 Fibronectin type-III 76. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATGGACTGGTAGGACTTGGT 0.423000 5 51 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475245 140475245 + Missense_Mutation SNP C C T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr5:140475245C>T ENST00000194155.4 + 1 1019 c.871C>T c.(871-873)Cgc>Tgc p.R291C NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 291 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAAGACATTCGCAAAACGTT 0.428000 9 55 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117387317 117387317 + Missense_Mutation SNP G G T TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr11:117387317G>T ENST00000321322.6 - 8 1829 c.1828C>A c.(1828-1830)Cgc>Agc p.R610S DSCAML1_ENST00000527706.1_Missense_Mutation_p.R340S NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 550 Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ACCACCTGGCGGTGGTTGTCT 0.587000 3 20 0.115264 0.119533 1 1 0 NOTCH2 4853 broad.mit.edu 37 1 120458413 120458413 + Missense_Mutation SNP G G C TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr1:120458413G>C ENST00000256646.2 - 34 7151 c.6932C>G c.(6931-6933)cCt>cGt p.P2311R NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2311 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTGCCTTTAGGGATGAGCTG 0.622000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 5 101 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377709 77377709 + Frame_Shift_Del DEL G G - TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr9:77377709delG ENST00000451710.3 - 26 4115 c.3878delC c.(3877-3879)cafs p.P1293fs TRPM6_ENST00000449912.2_Frame_Shift_Del_p.P1288fs|TRPM6_ENST00000376864.4_Frame_Shift_Del_p.P1293fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.P1288fs|TRPM6_ENST00000360774.1_Frame_Shift_Del_p.P1293fs Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1293 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTGCACTCTTGGGGGATGCCG 0.478 12 133 --- --- --- --- TYSND1 219743 broad.mit.edu 37 10 71905929 71905931 + In_Frame_Del DEL CAG CAG - TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr10:71905929_71905931delCAG ENST00000287078.6 - 1 411_413 c.412_414delCTG c.(412-414)del p.L138del TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 138 proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CCGGGCAGCTCAGCAGCAGCAGC 0.739 3 4 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546141 3546141 + RNA DEL A A - rs74546027 TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr16:3546141delA ENST00000574423.2 + 0 111 actccgtctcaaaaaaaaaaa 0.557 3 6 --- --- --- --- PDYN 5173 broad.mit.edu 37 20 1961527 1961528 + Frame_Shift_Ins INS - - A TCGA-44-A47G-01A-21D-A24D-08 TCGA-44-A47G-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26332eb0-30bc-4ad1-b614-99940fa392fc 8ab5382a-817e-4d2a-a139-3a9f65b795fd g.chr20:1961527_1961528insA ENST00000217305.2 - 4 431_432 c.206_207insT c.(205-207)tacfs p.Y69fs RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Frame_Shift_Ins_p.Y69fs|PDYN_ENST00000539905.1_Frame_Shift_Ins_p.Y69fs NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 69 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGAGGGGGTGAAAAAAGACAG 0.564 10 55 --- --- --- ---