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 MARS2 92935 broad.mit.edu 37 2 198570720 198570720 + Silent SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:198570720C>G ENST00000282276.6 + 1 634 c.591C>G c.(589-591)ctC>ctG p.L197L AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 197 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity p.L197L(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CTGTATCTCTCGAGAGCGGGC 0.587000 57 119 0 0 0.139131 0 0 SARS 6301 broad.mit.edu 37 1 109778722 109778722 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:109778722G>T ENST00000369923.4 + 8 1104 c.1093G>T c.(1093-1095)Gtc>Ttc p.V365F SARS_ENST00000234677.2_Missense_Mutation_p.V365F P49591 SYSC_HUMAN seryl-tRNA synthetase 365 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) TGTGAATATTGTCTCAGGTAT 0.507000 63 84 1.42676e-28 1.67301e-28 0.139131 1 0 CLCA2 9635 broad.mit.edu 37 1 86919091 86919091 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:86919091G>A ENST00000370565.4 + 13 2357 c.2195G>A c.(2194-2196)aGa>aAa p.R732K CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 732 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TCAGTAGGCAGAAATGAGGAG 0.453000 4 108 0 0 0.021553 0 0 DNAJC2 27000 broad.mit.edu 37 7 102953456 102953456 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:102953456A>G ENST00000379263.3 - 16 1979 c.1729T>C c.(1729-1731)Tgg>Cgg p.W577R PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.W524R|PMPCB_ENST00000249269.4_3'UTR NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 577 SANT 2. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 ATTTTTTCCCATCTTTCAGGT 0.398000 177 838 0 0 0.139131 0 0 MYO18A 399687 broad.mit.edu 37 17 27493807 27493807 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:27493807G>A ENST00000527372.1 - 2 332 c.152C>T c.(151-153)tCc>tTc p.S51F MYO18A_ENST00000354329.4_Missense_Mutation_p.S51F|MYO18A_ENST00000533112.1_Missense_Mutation_p.S51F|MYO18A_ENST00000531253.1_Missense_Mutation_p.S51F NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 51 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACGCTTGGAGGAGCGGTTCAG 0.567000 11 16 0 0 0.080935 0 0 R3HDM2 22864 broad.mit.edu 37 12 57648863 57648863 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:57648863G>A ENST00000402412.1 - 24 3056 c.2666C>T c.(2665-2667)cCt>cTt p.P889L R3HDM2_ENST00000358907.2_Missense_Mutation_p.P875L|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P875L|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P909L|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P602L|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P570L|RP11-123K3.4_ENST00000548184.1_RNA Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 875 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GATGCCCTCAGGGAGATCTGT 0.602000 48 91 0 0 0.139131 0 0 MFHAS1 9258 broad.mit.edu 37 8 8748457 8748457 + Silent SNP G G A rs150651778 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:8748457G>A ENST00000276282.6 - 1 2698 c.2112C>T c.(2110-2112)ctC>ctT p.L704L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 704 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GCAGGTAGGAGAGGGCACTCT 0.627000 26 40 0 0 0.099896 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350562 134350562 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:134350562G>A ENST00000357304.4 + 15 3101 c.3046G>A c.(3046-3048)Gag>Aag p.E1016K PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1016 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TTTTGGCCGCGAGGCCACCAA 0.562000 20 10 0 0 0.204396 0 0 NBPF3 84224 broad.mit.edu 37 1 21808093 21808093 + Silent SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:21808093C>A ENST00000318220.6 + 16 2317 c.1269C>A c.(1267-1269)ctC>ctA p.L423L NBPF3_ENST00000342104.5_Silent_p.L467L|NBPF3_ENST00000454000.2_Silent_p.L409L|NBPF3_ENST00000318249.5_Silent_p.L479L Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 479 NBPF 3. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTTCCAGGCTCAGCAGAGAGC 0.458000 44 106 1.02591e-13 1.1339e-13 0.117977 1 0 PSMC2 5701 broad.mit.edu 37 7 102988178 102988178 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:102988178C>T ENST00000435765.1 + 2 431 c.20C>T c.(19-21)gCc>gTc p.A7V PSMC2_ENST00000292644.3_Missense_Mutation_p.A7V|PSMC2_ENST00000544811.1_5'UTR NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 7 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TACCTCGGTGCCGATCAGCGG 0.577000 35 268 0 0 0.086207 0 0 MAPK6 5597 broad.mit.edu 37 15 52339091 52339091 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:52339091C>G ENST00000261845.5 + 2 1241 c.434C>G c.(433-435)tCt>tGt p.S145C NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 145 Protein kinase. cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) TATATTCACTCTGCAAATGTA 0.468000 71 96 0 0 0.139131 0 0 ABCA3 21 broad.mit.edu 37 16 2376444 2376444 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:2376444C>T ENST00000301732.5 - 4 724 c.24G>A c.(22-24)gcG>gcA p.A8A ABCA3_ENST00000567910.1_Silent_p.A8A|ABCA3_ENST00000382381.3_Silent_p.A8A NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 8 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGAGGAGGAGCGCCAGCTGCC 0.602000 15 37 0 0 0.132662 0 0 IGLV1-36 28826 broad.mit.edu 37 22 22786533 22786533 + RNA SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:22786533C>T ENST00000390301.2 + 0 123 CAGCCACCCTCGGTGTCTGAA 0.542000 OREG0026362 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 96 0 0 0.139131 0 0 KLHL6 89857 broad.mit.edu 37 3 183225976 183225976 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:183225976G>A ENST00000341319.3 - 3 815 c.780C>T c.(778-780)aaC>aaT p.N260N NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 260 BACK. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GTAAGCGCACGTTCTCGAGGA 0.577000 89 217 0 0 0.139131 0 0 C20orf194 25943 broad.mit.edu 37 20 3297377 3297377 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:3297377G>A ENST00000252032.9 - 18 1599 c.1532C>T c.(1531-1533)tCc>tTc p.S511F C20orf194_ENST00000453730.2_Missense_Mutation_p.S249F NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 511 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 AACCAGCCAGGAGCAGAATCT 0.527000 21 42 0 0 0.083992 0 0 CCDC85A 114800 broad.mit.edu 37 2 56419779 56419779 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:56419779G>A ENST00000407595.2 + 2 946 c.444G>A c.(442-444)ctG>ctA p.L148L RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 148 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGCAGAAGCTGAAAGACCTGG 0.572000 39 56 0 0 0.104719 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021005 73021005 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:73021005G>A ENST00000263674.3 + 1 1672 c.1322G>A c.(1321-1323)gGc>gAc p.G441D NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 441 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GGACCTGGAGGCACCTCTAGG 0.607000 37 29 0 0 0.080422 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821254 5821254 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:5821254G>T ENST00000381095.3 - 5 2092 c.1465C>A c.(1465-1467)Cat>Aat p.H489N NLGN4X_ENST00000538097.1_Missense_Mutation_p.H489N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.H509N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.H489N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.H489N NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 489 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TCATCACCATGGGCCGAATCT 0.572000 51 16 2.14255e-21 2.45014e-21 0.139131 1 0 AANAT 15 broad.mit.edu 37 17 74465350 74465350 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:74465350G>A ENST00000250615.3 + 6 1401 c.394G>A c.(394-396)Gag>Aag p.E132K AANAT_ENST00000392492.3_Missense_Mutation_p.E87K NM_001166579.1 NP_001160051.1 Q16613 SNAT_HUMAN aralkylamine N-acetyltransferase 87 Acetyl-CoA binding (By similarity).|N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 CTGGTTCGAGGAGGGCTGCCT 0.627000 113 232 0 0 0.139131 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100262 121100262 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:121100262A>G ENST00000273666.6 + 23 2813 c.2542A>G c.(2542-2544)Acc>Gcc p.T848A STXBP5L_ENST00000471454.1_Missense_Mutation_p.T824A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T824A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T848A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T822A NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 848 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AAATGACTCTACCATCTCTCC 0.408000 108 263 0 0 0.139131 0 0 PCNT 5116 broad.mit.edu 37 21 47851584 47851584 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:47851584G>T ENST00000359568.5 + 38 8313 c.8206G>T c.(8206-8208)Gag>Tag p.E2736* PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2736 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCTGGCTCAGGAGCGGAGCCA 0.637000 18 53 1.56452e-12 1.69674e-12 0.189662 1 0 MAST1 22983 broad.mit.edu 37 19 12976159 12976159 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:12976159C>T ENST00000251472.4 + 15 1707 c.1668C>T c.(1666-1668)ccC>ccT p.P556P NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 556 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 ACATCGCGCCCGAGGTCATCC 0.657000 64 76 0 0 0.139131 0 0 CSMD3 114788 broad.mit.edu 37 8 113267588 113267588 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:113267588A>G ENST00000297405.5 - 62 10175 c.9931T>C c.(9931-9933)Tca>Cca p.S3311P CSMD3_ENST00000455883.2_Missense_Mutation_p.S3142P|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3271P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3241P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3311 Sushi 26. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAAACCTCTGACTGGTATATA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 88 0 0 0.139131 0 0 REST 5978 broad.mit.edu 37 4 57785989 57785989 + Nonsense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr4:57785989C>G ENST00000309042.7 + 3 1249 c.935C>G c.(934-936)tCa>tGa p.S312* REST_ENST00000514063.1_3'UTR NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 312 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) TGTCCTTACTCAAGTTCTCAG 0.328000 40 44 0 0 0.117977 0 0 DUSP21 63904 broad.mit.edu 37 X 44703874 44703874 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:44703874G>T ENST00000339042.4 + 1 626 c.496G>T c.(496-498)Gtg>Ttg p.V166L NM_022076.3 NP_071359.3 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 166 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 TAACAACACCGTGCGCATGAT 0.507000 37 19 7.53189e-24 8.69934e-24 0.098360 1 0 ECM1 1893 broad.mit.edu 37 1 150484939 150484939 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:150484939C>T ENST00000369047.4 + 8 1320 c.1195C>T c.(1195-1197)Cgg>Tgg p.R399W ECM1_ENST00000369049.4_Missense_Mutation_p.R426W|ECM1_ENST00000346569.6_Missense_Mutation_p.R274W|ECM1_ENST00000470432.1_3'UTR NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 399 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTTTGCCCGTCGGGCTCCTTA 0.567000 59 173 0 0 0.139131 0 0 TBX22 50945 broad.mit.edu 37 X 79281105 79281105 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:79281105C>T ENST00000442340.1 + 5 592 c.102C>T c.(100-102)taC>taT p.Y34Y TBX22_ENST00000373294.5_Silent_p.Y154Y|TBX22_ENST00000373296.3_Silent_p.Y154Y|TBX22_ENST00000373291.1_Silent_p.Y34Y NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 154 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Y154*(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTTTCAGGTACGTCTATCACA 0.502000 25 23 0 0 0.125774 0 0 CNGA2 1260 broad.mit.edu 37 X 150911736 150911736 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:150911736C>T ENST00000329903.4 + 6 794 c.761C>T c.(760-762)gCc>gTc p.A254V NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 254 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CTGCACTTTGCCCGCATGTTT 0.522000 4 126 0 0 0.150653 0 0 GADD45A 1647 broad.mit.edu 37 1 68153400 68153400 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:68153400C>T ENST00000370986.4 + 4 875 c.441C>T c.(439-441)tgC>tgT p.C147C GADD45A_ENST00000370985.3_Silent_p.C113C NM_001924.3 NP_001915.1 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 147 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding lung(2)|ovary(2) 4 TTTGTTTTTGCCGGGAAAGTC 0.358000 4 239 0 0 0.184627 0 0 ALG1L 200810 broad.mit.edu 37 3 125651539 125651539 + Silent SNP A A C rs147593769 by1000genomes TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:125651539A>C ENST00000340333.3 - 3 277 c.114T>G c.(112-114)ctT>ctG p.L38L NM_001015050.2|NM_001195223.1 NP_001015050.2|NP_001182152.1 Q6GMV1 ALG1L_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 38 transferase activity, transferring glycosyl groups large_intestine(2)|lung(2) 4 CATCAAGAGTAAGTTGTTCAA 0.423000 3 153 0 0 0.115264 0 0 CACNA1C 775 broad.mit.edu 37 12 2595407 2595407 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:2595407T>C ENST00000399655.1 + 6 1160 c.895T>C c.(895-897)Tac>Cac p.Y299H CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y299H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y299H NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 299 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAAGACCTGCTACAACCAGGA 0.602000 16 61 0 0 0.153744 0 0 GPR75 10936 broad.mit.edu 37 2 54080671 54080671 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:54080671C>T ENST00000394705.2 - 2 1493 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 408 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCCATGGCTCGAAGTCGAGT 0.448000 94 183 0 0 0.139131 0 0 CELA3B 23436 broad.mit.edu 37 1 22313044 22313044 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:22313044C>T ENST00000337107.6 + 7 682 c.663C>T c.(661-663)ctC>ctT p.L221L CELA3B_ENST00000473526.1_3'UTR NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 221 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 GAGGACCCCTCAACTGCCCCA 0.572000 7 96 0 0 0.047766 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630460 131630460 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:131630460C>G ENST00000200652.3 + 1 325 c.151C>G c.(151-153)Cga>Gga p.R51G P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 51 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GCACCGCTGTCGAGTGCCGGA 0.672000 24 47 0 0 0.099896 0 0 ZNF10 7556 broad.mit.edu 37 12 133732286 133732286 + Missense_Mutation SNP T T G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:133732286T>G ENST00000248211.6 + 5 676 c.454T>G c.(454-456)Ttc>Gtc p.F152V ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.F152V|CTD-2140B24.4_ENST00000540096.2_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 152 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GCAAGTGGCATTCACCCAAAA 0.413000 43 64 0 0 0.124865 0 0 RIPK3 11035 broad.mit.edu 37 14 24808260 24808260 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:24808260C>T ENST00000216274.5 - 3 650 c.432G>A c.(430-432)aaG>aaA p.K144K NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 144 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CGTTGGATGGCTTGAGGTCCC 0.627000 30 34 0 0 0.144211 0 0 SCN11A 11280 broad.mit.edu 37 3 38888755 38888755 + Silent SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:38888755C>A ENST00000302328.3 - 26 5004 c.4806G>T c.(4804-4806)gtG>gtT p.V1602V SCN11A_ENST00000456224.3_Silent_p.V1564V|SCN11A_ENST00000450244.1_Silent_p.V1602V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1602 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTCTAAAATCACAGCAATGT 0.413000 4 148 0.00024832 0.000263128 0.150653 1 0 ATRNL1 26033 broad.mit.edu 37 10 117704253 117704253 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:117704253G>T ENST00000355044.3 + 29 4229 c.4103G>T c.(4102-4104)cGa>cTa p.R1368L ATRNL1_ENST00000423111.2_Missense_Mutation_p.R419L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.R161L NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1368 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTCCGGAATCGAAAACACCTT 0.418000 69 142 1.77791e-30 2.0954e-30 0.139131 1 0 URB2 9816 broad.mit.edu 37 1 229773772 229773772 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:229773772G>T ENST00000258243.2 + 4 3548 c.3412G>T c.(3412-3414)Gac>Tac p.D1138Y NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1138 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TGGAGGGGCCGACATTTCCCA 0.632000 5 152 0.014758 0.0151515 0.184627 1 0 VEPH1 79674 broad.mit.edu 37 3 156979086 156979086 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:156979086C>A ENST00000362010.2 - 14 2646 c.2339G>T c.(2338-2340)aGg>aTg p.R780M VEPH1_ENST00000392833.2_Missense_Mutation_p.R735M|VEPH1_ENST00000543418.1_Missense_Mutation_p.R735M|VEPH1_ENST00000392832.2_Missense_Mutation_p.R780M|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 780 PH. plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGAGCGGTCCCTGCGTTTCTT 0.483000 4 226 0.000602214 0.000635212 0.184627 1 0 HDGFL1 154150 broad.mit.edu 37 6 22570125 22570125 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr6:22570125G>A ENST00000510882.2 + 1 331 c.321G>A c.(319-321)ccG>ccA p.P107P HDGFL1_ENST00000230012.3_Silent_p.P107P Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 107 kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) GGCCTTGGCCGGAGCCCGAGG 0.687000 2 3 0 0 0.115264 0 0 CBFA2T3 863 broad.mit.edu 37 16 88968004 88968004 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:88968004G>A ENST00000268679.4 - 2 608 c.212C>T c.(211-213)aCg>aTg p.T71M CBFA2T3_ENST00000436887.2_Missense_Mutation_p.T71M|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.T10M|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.T10M|CBFA2T3_ENST00000448839.1_Intron NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 71 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CCGGGGCTGCGTCTTCACCTC 0.667000 T RUNX1 AML 23 46 0 0 0.091800 0 0 CAPN10 11132 broad.mit.edu 37 2 241535795 241535795 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:241535795C>T ENST00000391984.2 + 8 1534 c.1338C>T c.(1336-1338)acC>acT p.T446T CAPN10_ENST00000404753.3_Silent_p.T446T|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 446 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TGGCTGGCACCGCGTGCCATG 0.667000 4 193 0 0 0.150653 0 0 FMN1 342184 broad.mit.edu 37 15 33359987 33359987 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:33359987G>A ENST00000334528.9 - 1 98 c.99C>T c.(97-99)ttC>ttT p.F33F FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.F33F|FMN1_ENST00000559047.1_Intron NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 0 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) ATTTCATAGAGAACTTACTCA 0.428000 42 68 0 0 0.098360 0 0 CDH10 1008 broad.mit.edu 37 5 24509693 24509693 + Missense_Mutation SNP G G C rs1395027 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:24509693G>C ENST00000264463.4 - 7 1745 c.1238C>G c.(1237-1239)tCt>tGt p.S413C NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 413 Cadherin 4. S -> F (in dbSNP:rs1395027). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S413Y(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCTGGAAATAGAATCTGGGTC 0.483000 HNSCC(23;0.051) 43 75 0 0 0.139131 0 0 P2RY1 5028 broad.mit.edu 37 3 152554482 152554482 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:152554482C>T ENST00000305097.3 + 1 1747 c.911C>T c.(910-912)gCc>gTc p.A304V NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 304 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AGGGTTTATGCCACGTATCAG 0.478000 5 264 0 0 0.021553 0 0 NUDT8 254552 broad.mit.edu 37 11 67395614 67395614 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:67395614G>T ENST00000376693.2 - 4 523 c.514C>A c.(514-516)Ctg>Atg p.L172M NUDT8_ENST00000301490.4_3'UTR NM_001243750.1 NP_001230679.1 Q8WV74 NUDT8_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 8 172 Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding endometrium(1)|lung(1)|prostate(1)|skin(1) 4 GGTCCATGCAGGAAGACGGGT 0.642000 28 132 1.36615e-20 1.55458e-20 0.173368 1 0 PCNT 5116 broad.mit.edu 37 21 47852115 47852115 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:47852115G>C ENST00000359568.5 + 38 8844 c.8737G>C c.(8737-8739)Gac>Cac p.D2913H PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2913 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTGGCAGAGAGACAAGGAGAA 0.607000 6 7 0 0 0.021553 0 0 EHMT1 79813 broad.mit.edu 37 9 140708936 140708936 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:140708936C>T ENST00000460843.1 + 22 3261 c.3234C>T c.(3232-3234)ctC>ctT p.L1078L NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1078 Pre-SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GCGGCCAGCTCAGCATGCGCT 0.642000 48 32 0 0 0.139131 0 0 FBLN5 10516 broad.mit.edu 37 14 92357640 92357640 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:92357640C>T ENST00000267620.10 - 7 836 c.667G>A c.(667-669)Gcg>Acg p.A223T FBLN5_ENST00000342058.4_Missense_Mutation_p.A182T|FBLN5_ENST00000556154.1_Missense_Mutation_p.A187T Q9UBX5 FBLN5_HUMAN fibulin 5 182 EGF-like 4; calcium-binding (Potential). cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) GGAACATTCGCACAGAGCTGC 0.473000 79 29 0 0 0.139131 0 0 SERPINI2 5276 broad.mit.edu 37 3 167167167 167167167 + Nonsense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:167167167G>A ENST00000476257.1 - 8 1286 c.988C>T c.(988-990)Caa>Taa p.Q330* SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.Q330*|SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.Q330*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.Q330* O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 330 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TGCGTCACTTGGGAAACATAC 0.338000 3 89 0 0 0.184627 0 0 ZNF253 56242 broad.mit.edu 37 19 20003119 20003119 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:20003119C>T ENST00000589717.1 + 4 1155 c.1063C>T c.(1063-1065)Ctt>Ttt p.L355F ZNF253_ENST00000355650.4_Missense_Mutation_p.L279F NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 355 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATCCTCACACCTTACTACACA 0.388000 41 45 0 0 0.098360 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752699 62752699 + RNA SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:62752699G>T ENST00000331425.6 - 0 736 NR_003952.1 TGTCTAGTAAGGTTTGCGGAC 0.423000 31 143 3.73148e-12 4.0279e-12 0.125774 1 0 NAPEPLD 222236 broad.mit.edu 37 7 102743965 102743965 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:102743965G>C ENST00000417955.1 - 5 1247 c.1093C>G c.(1093-1095)Cta>Gta p.L365V NAPEPLD_ENST00000465647.1_Missense_Mutation_p.L365V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.L365V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.L438V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.L365V Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 365 phospholipid catabolic process membrane metal ion binding endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TATCTCTCTAGAGCTTCATTC 0.333000 51 185 0 0 0.139131 0 0 HEPN1 641654 broad.mit.edu 37 11 124789685 124789685 + Missense_Mutation SNP T T A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:124789685T>A ENST00000408930.5 + 1 540 c.39T>A c.(37-39)gaT>gaA p.D13E HEPACAM_ENST00000298251.4_3'UTR NM_001037558.2 NP_001032647.2 Q6WQI6 HEPN1_HUMAN hepatocellular carcinoma, down-regulated 1 13 cytoplasm large_intestine(1)|lung(1)|stomach(1) 3 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) CATGGGTTGATGGCGAATCAG 0.517000 39 37 0 0 0.098360 0 0 DSTYK 25778 broad.mit.edu 37 1 205116742 205116742 + Silent SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:205116742G>T ENST00000367162.3 - 13 2764 c.2734C>A c.(2734-2736)Cgg>Agg p.R912R DSTYK_ENST00000367161.3_Silent_p.R867R|DSTYK_ENST00000367160.4_Silent_p.R571R NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 912 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TTGCAGAGCCGATTCATGATG 0.507000 5 402 0.014758 0.0151515 0.184627 1 0 ZNF436 80818 broad.mit.edu 37 1 23688795 23688795 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:23688795C>A ENST00000314011.4 - 4 1216 c.1080G>T c.(1078-1080)aaG>aaT p.K360N ZNF436_ENST00000374608.3_Missense_Mutation_p.K360N|ZNF436_ENST00000374609.1_Intron NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) ATTCATATGGCTTCTCTCCAG 0.483000 121 155 1.77382e-44 2.1453e-44 0.139131 1 0 OR10K1 391109 broad.mit.edu 37 1 158436255 158436255 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:158436255C>G ENST00000289451.2 + 1 984 c.904C>G c.(904-906)Cga>Gga p.R302G NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) ATCAGCCCTACGAAGAACAAT 0.373000 46 135 0 0 0.124865 0 0 TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:7577570C>T ENST00000420246.2 - 7 843 c.711G>A c.(709-711)atG>atA p.M237I TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 237 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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) AACTGTTACACATGTAGTTGT 0.567000 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) 18 21 0 0 0.204396 0 0 ACTR5 79913 broad.mit.edu 37 20 37400305 37400305 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:37400305A>T ENST00000243903.4 + 9 1707 c.1670A>T c.(1669-1671)tAt>tTt p.Y557F NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 557 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) AGGAAAGAGTATGAAGAAAAG 0.547000 59 84 0 0 0.139131 0 0 MYSM1 114803 broad.mit.edu 37 1 59147716 59147716 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:59147716C>T ENST00000472487.1 - 8 1039 c.1000G>A c.(1000-1002)Gat>Aat p.D334N MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 334 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) TGCCTGGCATCAACTATTATT 0.348000 79 174 0 0 0.139131 0 0 ZNF436 80818 broad.mit.edu 37 1 23688794 23688794 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:23688794G>A ENST00000314011.4 - 4 1217 c.1081C>T c.(1081-1083)Cca>Tca p.P361S ZNF436_ENST00000374608.3_Missense_Mutation_p.P361S|ZNF436_ENST00000374609.1_Intron NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CATTCATATGGCTTCTCTCCA 0.478000 121 154 0 0 0.139131 0 0 AGAP4 119016 broad.mit.edu 37 10 46322371 46322371 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:46322371G>A ENST00000448048.2 - 7 1109 c.984C>T c.(982-984)gcC>gcT p.A328A NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 328 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1)|lung(1)|ovary(1) 3 TGGGTGTGCAGGCCGATGTGG 0.488000 72 216 0 0 0.139131 0 0 HYDIN 54768 broad.mit.edu 37 16 70913521 70913521 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:70913521C>G ENST00000393567.2 - 61 10504 c.10354G>C c.(10354-10356)Gat>Cat p.D3452H NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3452 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGCAAGCCATCCAAGGTAGCC 0.577000 18 83 0 0 0.069288 0 0 ADCY2 108 broad.mit.edu 37 5 7802384 7802384 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:7802384G>A ENST00000338316.4 + 21 2771 c.2682G>A c.(2680-2682)ccG>ccA p.P894P ADCY2_ENST00000537121.1_Silent_p.P714P NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 894 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.P894P(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CCTCCATTCCGGATTTCAAAG 0.473000 32 53 0 0 0.163468 0 0 NUDT8 254552 broad.mit.edu 37 11 67395615 67395615 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:67395615G>A ENST00000376693.2 - 4 522 c.513C>T c.(511-513)ttC>ttT p.F171F NUDT8_ENST00000301490.4_3'UTR NM_001243750.1 NP_001230679.1 Q8WV74 NUDT8_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 8 171 Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding endometrium(1)|lung(1)|prostate(1)|skin(1) 4 GTCCATGCAGGAAGACGGGTA 0.642000 28 131 0 0 0.153744 0 0 SCD 6319 broad.mit.edu 37 10 102114253 102114253 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:102114253C>A ENST00000370355.2 + 4 892 c.511C>A c.(511-513)Cat>Aat p.H171N NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 171 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TGCTGATCCTCATAATTCCCG 0.502000 69 163 3.31162e-33 3.92299e-33 0.139131 1 0 RAB5A 5868 broad.mit.edu 37 3 20025262 20025262 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:20025262G>A ENST00000273047.4 + 6 1131 c.595G>A c.(595-597)Gta>Ata p.V199I RAB5A_ENST00000422242.1_Missense_Mutation_p.V185I NM_004162.4 NP_004153.2 P20339 RAB5A_HUMAN RAB5A, member RAS oncogene family 199 blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GDP binding|GTP binding|GTPase activity lung(1)|urinary_tract(1) 2 AGGAAGAGGAGTAGACCTTAC 0.368000 9 16 0 0 0.080935 0 0 PDE4D 5144 broad.mit.edu 37 5 59284492 59284492 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:59284492C>T ENST00000502484.2 - 3 318 c.95G>A c.(94-96)gGa>gAa p.G32E PDE4D_ENST00000546160.1_Missense_Mutation_p.G32E NM_001165899.1 NP_001159371.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GGGTTCCATTCCGCGGAAAGG 0.428000 56 126 0 0 0.139131 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602595 13602595 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr4:13602595C>G ENST00000040738.5 - 10 6064 c.5929G>C c.(5929-5931)Ggt>Cgt p.G1977R NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1977 DNA binding GTCATAGGACCCTCACAACCT 0.483000 44 51 0 0 0.139131 0 0 RELB 5971 broad.mit.edu 37 19 45528913 45528913 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:45528913C>T ENST00000221452.8 + 7 954 c.804C>T c.(802-804)atC>atT p.I268I RELB_ENST00000505236.1_Silent_p.I265I|RELB_ENST00000540120.1_Silent_p.I268I NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 268 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) TGGTGAGGATCTGCTTCCAGG 0.567000 93 141 0 0 0.139131 0 0 SYCP1 6847 broad.mit.edu 37 1 115489931 115489931 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:115489931G>A ENST00000369522.3 + 27 2552 c.2312G>A c.(2311-2313)aGa>aAa p.R771K SYCP1_ENST00000369518.1_Missense_Mutation_p.R771K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 771 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding p.R771I(1) RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAATAGAAAGAGAAGAGAAG 0.299000 43 116 0 0 0.139131 0 0 SCARA5 286133 broad.mit.edu 37 8 27737157 27737157 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:27737157C>T ENST00000354914.3 - 8 1765 c.1280G>A c.(1279-1281)gGa>gAa p.G427E SCARA5_ENST00000380385.2_Missense_Mutation_p.G202E NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 427 SRCR. cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CACCACGTCTCCGTCCTTCTT 0.637000 74 151 0 0 0.139131 0 0 CERKL 375298 broad.mit.edu 37 2 182468677 182468677 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:182468677A>T ENST00000410087.3 - 2 468 c.368T>A c.(367-369)tTc>tAc p.F123Y CERKL_ENST00000339098.5_Missense_Mutation_p.F123Y|CERKL_ENST00000374969.2_Missense_Mutation_p.F123Y|CERKL_ENST00000374970.2_Missense_Mutation_p.F123Y|CERKL_ENST00000409440.3_Missense_Mutation_p.F123Y|CERKL_ENST00000479558.1_5'UTR NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 123 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CAAGCAGATGAAGAGTGTGAT 0.333000 11 60 0 0 0.080935 0 0 DNMBP 23268 broad.mit.edu 37 10 101639776 101639776 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:101639776C>A ENST00000342239.3 - 16 4503 c.4412G>T c.(4411-4413)gGg>gTg p.G1471V DNMBP_ENST00000540316.1_Missense_Mutation_p.G383V|DNMBP_ENST00000543621.1_Missense_Mutation_p.G693V|DNMBP_ENST00000324109.4_Missense_Mutation_p.G1447V Q6XZF7 DNMBP_HUMAN dynamin binding protein 1447 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TGCAGAGTCCCCTGACCTTGG 0.532000 4 143 0.150653 0.153308 0.150653 1 0 SYNGR2 9144 broad.mit.edu 37 17 76167595 76167595 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:76167595C>T ENST00000589711.1 + 2 117 c.104C>T c.(103-105)tCt>tTt p.S35F SYNGR2_ENST00000590201.1_Silent_p.L58L|SYNGR2_ENST00000585591.1_Silent_p.L114L|SYNGR2_ENST00000588282.1_Silent_p.L114L|SYNGR2_ENST00000225777.3_Silent_p.L114L|SYNGR2_ENST00000592456.1_3'UTR O43760 SNG2_HUMAN synaptogyrin 2 0 MARVEL. integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) CCCCAGCTCTCTGGACCTTCC 0.637000 34 71 0 0 0.092188 0 0 SV2C 22987 broad.mit.edu 37 5 75621244 75621244 + Missense_Mutation SNP A A C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:75621244A>C ENST00000502798.2 + 13 2498 c.2056A>C c.(2056-2058)Aac>Cac p.N686H SV2C_ENST00000322285.7_Intron NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 686 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CGTCCTGGGAAACTTAATATT 0.522000 82 138 0 0 0.139131 0 0 TRIB3 57761 broad.mit.edu 37 20 377164 377164 + Silent SNP C C A rs139447354 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:377164C>A ENST00000217233.3 + 4 1460 c.907C>A c.(907-909)Cgg>Agg p.R303R TRIB3_ENST00000422053.2_Silent_p.R330R NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 303 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GCCAGCTGAACGGCTCACAGC 0.687000 69 120 5.26073e-25 6.10667e-25 0.139131 1 0 ACTR2 10097 broad.mit.edu 37 2 65473816 65473816 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:65473816A>T ENST00000260641.5 + 3 475 c.318A>T c.(316-318)aaA>aaT p.K106N ACTR2_ENST00000542850.1_Missense_Mutation_p.K51N|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Missense_Mutation_p.K111N NM_005722.3 NP_005713.1 P61160 ARP2_HUMAN ARP2 actin-related protein 2 homolog (yeast) 106 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 GAAATTGTAAAATCTTACTCA 0.368000 72 154 0 0 0.139131 0 0 CLEC4E 26253 broad.mit.edu 37 12 8689784 8689784 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:8689784G>A ENST00000299663.3 - 4 464 c.299C>T c.(298-300)tCc>tTc p.S100F CLEC4E_ENST00000545274.1_Intron|CLEC4E_ENST00000446457.2_Intron NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 100 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) TAACGCCCAGGAAATGGTGTC 0.463000 47 77 0 0 0.139131 0 0 EXOC6B 23233 broad.mit.edu 37 2 72945308 72945308 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:72945308G>A ENST00000272427.6 - 6 723 c.593C>T c.(592-594)tCt>tTt p.S198F EXOC6B_ENST00000410104.1_Missense_Mutation_p.S198F NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 198 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 ATCGGACATAGAAACATCTTT 0.438000 56 104 0 0 0.139131 0 0 BRSK1 84446 broad.mit.edu 37 19 55805389 55805389 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:55805389A>G ENST00000309383.1 + 5 740 c.463A>G c.(463-465)Aga>Gga p.R155G BRSK1_ENST00000590333.1_Missense_Mutation_p.R171G|BRSK1_ENST00000585418.1_Missense_Mutation_p.R155G NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 155 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCTCAGCCACAGAGACCTAAA 0.577000 110 229 0 0 0.139131 0 0 PPIE 10450 broad.mit.edu 37 1 40214724 40214724 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:40214724G>A ENST00000324379.5 + 8 677 c.658G>A c.(658-660)Gat>Aat p.D220N PPIE_ENST00000470213.1_Silent_p.S178S|PPIE_ENST00000372830.1_Missense_Mutation_p.D220N|PPIE_ENST00000356511.2_Missense_Mutation_p.D220N NM_006112.3 NP_006103.1 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E (cyclophilin E) 220 PPIase cyclophilin-type. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 9 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAAGAAGTTCGATGATGAAAA 0.552000 51 94 0 0 0.139131 0 0 TOX3 27324 broad.mit.edu 37 16 52497888 52497888 + Silent SNP G G A rs147213203 by1000genomes TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:52497888G>A ENST00000219746.9 - 3 650 c.366C>T c.(364-366)ctC>ctT p.L122L TOX3_ENST00000407228.3_Silent_p.L117L NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 122 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 CTTGTTCCACGAGATTTCTTG 0.433000 58 118 0 0 0.139131 0 0 ULK4 54986 broad.mit.edu 37 3 41877374 41877374 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:41877374G>C ENST00000301831.4 - 18 2208 c.1746C>G c.(1744-1746)atC>atG p.I582M NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 582 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTACAAGATAGATCAGCTCCC 0.393000 4 166 0 0 0.021553 0 0 FOLR1 2348 broad.mit.edu 37 11 71906662 71906662 + Nonsense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:71906662C>T ENST00000393679.1 + 4 800 c.364C>T c.(364-366)Cag>Tag p.Q122* RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.Q122*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.Q122*|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.Q122* P15328 FOLR1_HUMAN folate receptor 1 (adult) 122 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 CCAGGTGGATCAGAGCTGGCG 0.542000 28 199 0 0 0.125774 0 0 DNAJC27 51277 broad.mit.edu 37 2 25186283 25186283 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:25186283G>T ENST00000264711.2 - 3 420 c.231C>A c.(229-231)ttC>ttA p.F77L DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Missense_Mutation_p.F6L NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 77 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CCTCATAGAAGAAGGGATGTC 0.368000 22 50 1.55795e-14 1.73858e-14 0.062417 1 0 IRX4 50805 broad.mit.edu 37 5 1879734 1879734 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:1879734G>T ENST00000505790.1 - 5 1076 c.620C>A c.(619-621)aCg>aAg p.T207K IRX4_ENST00000513692.1_Missense_Mutation_p.T207K|IRX4_ENST00000231357.2_Missense_Mutation_p.T207K|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 207 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CGGCGGCCACGTCATCTTGTT 0.657000 35 73 1.06647e-15 1.1959e-15 0.193644 1 0 PTGER2 5732 broad.mit.edu 37 14 52781581 52781581 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:52781581G>A ENST00000245457.5 + 1 469 c.315G>A c.(313-315)gaG>gaA p.E105E PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 105 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TGGCGCCCGAGAGCCGCGCGT 0.647000 26 63 0 0 0.091800 0 0 SEC1P 653677 broad.mit.edu 37 19 49183499 49183499 + RNA SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:49183499C>T ENST00000430145.2 + 0 586 NR_004401.2 ACCAGATGGGCGAGTACGCCA 0.662000 3 23 0 0 0.115264 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630361 131630361 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:131630361C>G ENST00000200652.3 + 1 226 c.52C>G c.(52-54)Cag>Gag p.Q18E P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 18 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GGGGCCCTTCCAGCGCCTCAT 0.617000 26 58 0 0 0.099896 0 0 SV2A 9900 broad.mit.edu 37 1 149879361 149879361 + Silent SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:149879361T>C ENST00000369146.3 - 10 2059 c.1569A>G c.(1567-1569)tcA>tcG p.S523S SV2A_ENST00000369145.1_Silent_p.S523S NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 523 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CAAAGGACACTGACTTGAGCC 0.488000 29 113 0 0 0.108266 0 0 OR5M10 390167 broad.mit.edu 37 11 56344940 56344940 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:56344940G>A ENST00000526812.2 - 1 323 c.258C>T c.(256-258)ctC>ctT p.L86L NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TCTGTTCTGAGAGGAAATTGT 0.438000 44 86 0 0 0.124865 0 0 OR4C16 219428 broad.mit.edu 37 11 55340373 55340373 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:55340373C>A ENST00000314634.3 + 1 770 c.770C>A c.(769-771)aCa>aAa p.T257K NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTTATGTACACATGCCTTGCA 0.398000 53 109 3.76997e-23 4.33265e-23 0.139131 1 0 TICAM1 148022 broad.mit.edu 37 19 4817884 4817884 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:4817884G>T ENST00000248244.5 - 2 735 c.506C>A c.(505-507)tCg>tAg p.S169* NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 169 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGCAAAGCCGAGGATGGTGG 0.652000 7 176 0.00198382 0.00208301 0.029380 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19651350 19651350 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:19651350C>T ENST00000284885.3 - 23 2728 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 899 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TGATTTTCTTCCGGTAAACAA 0.323000 32 62 0 0 0.153744 0 0 KCNA4 3739 broad.mit.edu 37 11 30032952 30032952 + Missense_Mutation SNP T T A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:30032952T>A ENST00000328224.6 - 2 2507 c.1274A>T c.(1273-1275)cAg>cTg p.Q425L NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 425 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCCTGTTGCTGGGCCAGGTC 0.507000 57 44 0 0 0.139131 0 0 SLC26A10 65012 broad.mit.edu 37 12 58018675 58018675 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:58018675C>A ENST00000379218.2 + 11 1672 c.1361C>A c.(1360-1362)tCc>tAc p.S454Y SLC26A10_ENST00000320442.4_Silent_p.I418I|SLC26A10_ENST00000490243.1_3'UTR Q8NG04 S2610_HUMAN solute carrier family 26, member 10 0 STAS. integral to membrane antiporter activity p.S454C(1)|p.I418M(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) GGCTCTGCATCCTGAGCTATC 0.577000 78 165 7.68447e-34 9.15007e-34 0.139131 1 0 TNRC6B 23112 broad.mit.edu 37 22 40697290 40697290 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:40697290G>A ENST00000454349.2 + 15 4284 c.4073G>A c.(4072-4074)gGg>gAg p.G1358E TNRC6B_ENST00000402203.1_Missense_Mutation_p.G554E|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G1248E|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G554E NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1358 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 TTGAATGTGGGGCTCCCAGAC 0.512000 12 17 0 0 0.132662 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43592113 43592113 + RNA SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:43592113C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA CAATCTGTCTCTCACCTGTGG 0.463000 26 335 0 0 0.153744 0 0 SYT8 90019 broad.mit.edu 37 11 1858221 1858221 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:1858221G>A ENST00000341958.3 + 7 1127 c.825G>A c.(823-825)caG>caA p.Q275Q SYT8_ENST00000381968.3_Silent_p.Q289Q|SYT8_ENST00000535046.1_3'UTR Q8NBV8 SYT8_HUMAN synaptotagmin VIII 289 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGCTGAACCAGAGGAAGTGGA 0.627000 8 89 0 0 0.038147 0 0 ADORA3 140 broad.mit.edu 37 1 112031598 112031598 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:112031598G>A ENST00000369716.4 - 3 639 c.506C>T c.(505-507)aCg>aTg p.T169M ADORA3_ENST00000369717.4_Missense_Mutation_p.T88M NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGCAGAAGCCGTGTCCAGCAC 0.498000 33 80 0 0 0.214465 0 0 ITSN1 6453 broad.mit.edu 37 21 35166729 35166729 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:35166729C>G ENST00000381318.3 + 17 2197 c.1909C>G c.(1909-1911)Cga>Gga p.R637G ITSN1_ENST00000399352.1_Missense_Mutation_p.R637G|ITSN1_ENST00000399349.1_Missense_Mutation_p.R637G|ITSN1_ENST00000399353.1_Missense_Mutation_p.R600G|ITSN1_ENST00000381291.4_Missense_Mutation_p.R637G|ITSN1_ENST00000379960.5_Missense_Mutation_p.R637G|ITSN1_ENST00000437442.2_Missense_Mutation_p.R637G|ITSN1_ENST00000399326.3_Missense_Mutation_p.R637G|ITSN1_ENST00000399338.4_Missense_Mutation_p.R637G|ITSN1_ENST00000399355.2_Missense_Mutation_p.R637G|ITSN1_ENST00000399367.3_Missense_Mutation_p.R637G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.R637G NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 637 KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGAACAAGAACGAAAGATCAT 0.373000 48 84 0 0 0.124865 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577111 14577111 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:14577111T>C ENST00000544627.1 + 2 606 c.286T>C c.(286-288)Tgg>Cgg p.W96R ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.W88R|ATF7IP_ENST00000261168.4_Missense_Mutation_p.W88R|ATF7IP_ENST00000536444.1_Missense_Mutation_p.W88R|ATF7IP_ENST00000540793.1_Missense_Mutation_p.W88R Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 88 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TAAAGCAGAATGGAAGGAAAC 0.378000 34 67 0 0 0.163468 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101976 9101976 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:9101976G>C ENST00000377424.4 - 5 618 c.439C>G c.(439-441)Ccc>Gcc p.P147A SLC2A5_ENST00000535586.1_Missense_Mutation_p.P32A|SLC2A5_ENST00000536305.1_Missense_Mutation_p.P88A|SLC2A5_ENST00000377414.3_Missense_Mutation_p.P147A NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 147 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AAGTACATGGGGACCACGTTG 0.512000 12 39 0 0 0.080935 0 0 ENPP7 339221 broad.mit.edu 37 17 77710932 77710932 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:77710932C>A ENST00000328313.5 + 4 1340 c.1119C>A c.(1117-1119)ttC>ttA p.F373L NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 373 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity p.F373L(5) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCCCTAGCTTCAGGGCGGGCC 0.607000 4 128 0.150653 0.153308 0.150653 1 0 CD33 945 broad.mit.edu 37 19 51742808 51742808 + Silent SNP T T A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:51742808T>A ENST00000262262.4 + 7 981 c.960T>A c.(958-960)acT>acA p.T320T CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Silent_p.T193T NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 320 cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) ATGGCCCCACTGAAACCTCAA 0.522000 31 50 0 0 0.134883 0 0 FAM217A 222826 broad.mit.edu 37 6 4069240 4069240 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr6:4069240G>C ENST00000274673.3 - 7 1620 c.1217C>G c.(1216-1218)tCt>tGt p.S406C FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 406 ACTTAAAATAGAACTTTTGGG 0.368000 74 50 0 0 0.139131 0 0 MED12L 116931 broad.mit.edu 37 3 151148153 151148153 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:151148153C>G ENST00000474524.1 + 42 6408 c.6370C>G c.(6370-6372)Cag>Gag p.Q2124E MED12L_ENST00000273432.4_Missense_Mutation_p.Q1788E NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2124 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCGGCAGCTCCAGAAGCAGCT 0.537000 47 150 0 0 0.139131 0 0 FAM47C 442444 broad.mit.edu 37 X 37028587 37028587 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:37028587C>T ENST00000358047.3 + 1 2156 c.2104C>T c.(2104-2106)Ctc>Ttc p.L702F NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 702 p.L702F(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGTGTCCCGTCTCCACCCAGA 0.642000 61 33 0 0 0.139131 0 0 TYR 7299 broad.mit.edu 37 11 88911535 88911535 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:88911535C>T ENST00000263321.5 + 1 916 c.414C>T c.(412-414)ctC>ctT p.L138L TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 138 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TTGCCTACCTCACTTTAGCAA 0.438000 13 136 0 0 0.119110 0 0 HNF1B 6928 broad.mit.edu 37 17 36064935 36064935 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:36064935G>C ENST00000225893.4 - 6 1689 c.1328C>G c.(1327-1329)gCa>gGa p.A443G HNF1B_ENST00000561193.1_Missense_Mutation_p.A417G|HNF1B_ENST00000427275.2_Missense_Mutation_p.A417G|HNF1B_ENST00000560016.1_Missense_Mutation_p.A443G NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 443 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TTGTGCAATTGCCATGACTCC 0.463000 56 141 0 0 0.139131 0 0 ARID5B 84159 broad.mit.edu 37 10 63851964 63851964 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:63851964G>A ENST00000279873.7 + 10 3152 c.2742G>A c.(2740-2742)ccG>ccA p.P914P ARID5B_ENST00000309334.5_Silent_p.P671P NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 914 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CCAAGAACCCGCACAAACCTA 0.572000 5 255 0 0 0.184627 0 0 CFH 3075 broad.mit.edu 37 1 196712640 196712640 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:196712640G>A ENST00000367429.4 + 20 3432 c.3192G>A c.(3190-3192)atG>atA p.M1064I NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1064 Sushi 18. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CGAGACAGATGAGTAAATATC 0.403000 68 189 0 0 0.139131 0 0 ASPM 259266 broad.mit.edu 37 1 197112028 197112028 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:197112028C>G ENST00000367409.4 - 3 1610 c.1354G>C c.(1354-1356)Gaa>Caa p.E452Q ASPM_ENST00000294732.7_Missense_Mutation_p.E452Q NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 452 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ACTAGTTCTTCAAAAATAGCT 0.338000 6 289 0 0 0.029380 0 0 MBOAT7 79143 broad.mit.edu 37 19 54692109 54692109 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:54692109G>C ENST00000431666.2 - 3 715 c.76C>G c.(76-78)Cat>Gat p.H26D MBOAT7_ENST00000338624.6_Missense_Mutation_p.H26D|MBOAT7_ENST00000391754.1_Silent_p.T56T|MBOAT7_ENST00000245615.1_Silent_p.T56T|MBOAT7_ENST00000474910.1_5'UTR NM_001146083.1 NP_001139555.1 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 0 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCCCGAGGATGGTGACCAGAG 0.637000 70 108 0 0 0.139131 0 0 NETO1 81832 broad.mit.edu 37 18 70461640 70461640 + Splice_Site SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr18:70461640C>G ENST00000327305.6 - 5 1127 c.e5-1 NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000583169.1_Splice_Site NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAGTCAGGATCTTAAAAATTG 0.294000 82 61 0 0 0.139131 0 0 ZNF714 148206 broad.mit.edu 37 19 21300358 21300358 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:21300358C>T ENST00000596143.1 + 5 1213 c.888C>T c.(886-888)ttC>ttT p.F296F ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 TTAACCGATTCTCATACCTTA 0.348000 3 17 0 0 0.115264 0 0 ZNF610 162963 broad.mit.edu 37 19 52856995 52856995 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:52856995G>C ENST00000601151.1 + 4 576 c.124G>C c.(124-126)Gac>Cac p.D42H ZNF610_ENST00000403906.3_Missense_Mutation_p.D42H|ZNF610_ENST00000327920.8_Missense_Mutation_p.D42H|ZNF610_ENST00000321287.8_Missense_Mutation_p.D42H NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D42Y(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GAAATCCCTGGACCCTGGACA 0.493000 70 117 0 0 0.139131 0 0 XKR4 114786 broad.mit.edu 37 8 56270330 56270330 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:56270330C>T ENST00000327381.5 + 2 999 c.899C>T c.(898-900)gCg>gTg p.A300V NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 300 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TATGAGTATGCGGATGTGAGT 0.453000 5 180 0 0 0.184627 0 0 CHPF 79586 broad.mit.edu 37 2 220404983 220404983 + Nonsense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:220404983G>A ENST00000243776.6 - 4 1698 c.1450C>T c.(1450-1452)Cga>Tga p.R484* CHPF_ENST00000535926.1_Nonsense_Mutation_p.R322* NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 484 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGCTGCACTCGGCGAGTGAGG 0.667000 14 32 0 0 0.146539 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162030 90162030 + RNA SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:90162030G>A ENST00000567960.1 + 0 766 TUBB8P7_ENST00000564451.1_RNA AGCTGGCCGTGAACATGGTCC 0.627000 17 22 0 0 0.055883 0 0 FBF1 85302 broad.mit.edu 37 17 73915956 73915956 + Splice_Site SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:73915956C>T ENST00000586717.1 - 19 2163 c.e19-1 FBF1_ENST00000319129.5_Splice_Site|FBF1_ENST00000389570.4_Splice_Site A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GATGCGGCTTCTGCCAACAGA 0.602000 37 57 0 0 0.214465 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716525 39716525 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:39716525C>T ENST00000553728.1 + 4 960 c.747C>T c.(745-747)agC>agT p.S249S MIA2_ENST00000556784.1_Silent_p.S248S|MIA2_ENST00000280082.3_Silent_p.S249S TACAAGAAAGCTCATTTCGGA 0.403000 46 25 0 0 0.117977 0 0 CACHD1 57685 broad.mit.edu 37 1 65117854 65117854 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:65117854G>A ENST00000371073.2 + 10 1401 c.1401G>A c.(1399-1401)atG>atA p.M467I CACHD1_ENST00000290039.5_Missense_Mutation_p.M416I|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 467 Cache 1. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GTTTGATAATGACTGTGAGTA 0.403000 49 113 0 0 0.139131 0 0 KANK2 25959 broad.mit.edu 37 19 11283762 11283762 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:11283762G>A ENST00000432929.2 - 10 2490 c.2130C>T c.(2128-2130)taC>taT p.Y710Y KANK2_ENST00000586659.1_Silent_p.Y702Y|KANK2_ENST00000589359.1_Silent_p.Y710Y|KANK2_ENST00000355150.5_Silent_p.Y702Y|KANK2_ENST00000589894.1_Silent_p.Y702Y NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 702 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TAATAGGGCTGTAGCCAGCAC 0.567000 77 110 0 0 0.139131 0 0 MAP3K19 80122 broad.mit.edu 37 2 135745305 135745305 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:135745305G>A ENST00000375845.3 - 7 1167 c.1137C>T c.(1135-1137)aaC>aaT p.N379N MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.N396N|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.N266N|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 CTTGTTCATAGTTTTTGGCTA 0.378000 56 99 0 0 0.139131 0 0 PTPRF 5792 broad.mit.edu 37 1 44069435 44069435 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:44069435G>A ENST00000359947.4 + 16 2952 c.2612G>A c.(2611-2613)gGc>gAc p.G871D PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.G219D|PTPRF_ENST00000372414.3_Missense_Mutation_p.G871D|PTPRF_ENST00000372413.3_Missense_Mutation_p.G862D|PTPRF_ENST00000438120.1_Missense_Mutation_p.G862D NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 871 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATAGATTTCGGCAAGGATGAC 0.637000 35 85 0 0 0.203993 0 0 FBXW4 6468 broad.mit.edu 37 10 103432746 103432746 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:103432746G>A ENST00000331272.7 - 4 1219 c.601C>T c.(601-603)Cat>Tat p.H201Y NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 201 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) TCCTGTTCATGAGCCGAGTAC 0.507000 42 74 0 0 0.098360 0 0 UBAC1 10422 broad.mit.edu 37 9 138825301 138825301 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:138825301G>A ENST00000371756.3 - 10 1380 c.1163C>T c.(1162-1164)aCg>aTg p.T388M NM_016172.2 NP_057256.2 Q9BSL1 UBAC1_HUMAN UBA domain containing 1 388 STI1. Golgi apparatus|plasma membrane protein binding NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) GACAGGCCCCGTTTCTGGATC 0.562000 86 62 0 0 0.139131 0 0 ZNF208 7757 broad.mit.edu 37 19 22170088 22170088 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:22170088C>T ENST00000397126.4 - 3 304 c.156G>A c.(154-156)ctG>ctA p.L52L ZNF208_ENST00000599916.1_Silent_p.L52L|ZNF208_ENST00000597040.1_Silent_p.L20L|ZNF208_ENST00000601773.1_Silent_p.L52L NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GAAAAATGATCAGGTCTGGCT 0.398000 29 69 0 0 0.116897 0 0 RERE 473 broad.mit.edu 37 1 8421855 8421855 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:8421855C>T ENST00000337907.3 - 18 2618 c.1984G>A c.(1984-1986)Gac>Aac p.D662N RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.D662N|RERE_ENST00000377464.1_Missense_Mutation_p.D394N|RERE_ENST00000476556.1_Missense_Mutation_p.D108N NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 662 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTGGTCCTGTCAGCCTCCTCC 0.552000 47 107 0 0 0.139131 0 0 FRG2DP 146481 broad.mit.edu 37 16 34712201 34712201 + RNA SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:34712201G>A ENST00000569028.2 - 0 1153 TGCTGAATGGGGTCAGGGTGC 0.507000 9 17 0 0 0.058154 0 0 TCF20 6942 broad.mit.edu 37 22 42610152 42610152 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:42610152G>A ENST00000359486.3 - 1 1296 c.1160C>T c.(1159-1161)tCt>tTt p.S387F TCF20_ENST00000335626.4_Missense_Mutation_p.S387F NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CATGAGAGGAGATGGGGTAGA 0.512000 62 147 0 0 0.139131 0 0 KMT2D 8085 broad.mit.edu 37 12 49445126 49445126 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:49445126G>T ENST00000301067.7 - 10 2339 c.2340C>A c.(2338-2340)tgC>tgA p.C780* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAGGCACAGCGCATAGGCATG 0.667000 27 39 1.30293e-26 1.52009e-26 0.183431 1 0 P2RY1 5028 broad.mit.edu 37 3 152554042 152554042 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:152554042C>T ENST00000305097.3 + 1 1307 c.471C>T c.(469-471)ctC>ctT p.L157L NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 157 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TGTACCCCCTCAAGTCCCTGG 0.532000 31 138 0 0 0.144211 0 0 CD40 958 broad.mit.edu 37 20 44756820 44756820 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:44756820C>G ENST00000372285.3 + 7 675 c.603C>G c.(601-603)atC>atG p.I201M CD40_ENST00000372276.3_Missense_Mutation_p.L181V|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 201 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) TCCCCATCATCTTCGGGATCC 0.567000 Immune Deficiency with Hyper-IgM OREG0025991 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 144 0 0 0.139131 0 0 ZNF880 400713 broad.mit.edu 37 19 52887510 52887510 + Missense_Mutation SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:52887510A>T ENST00000422689.2 + 4 692 c.677A>T c.(676-678)aAc>aTc p.N226I NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 226 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AACAGTTCAAACCTTGTACAA 0.388000 7 22 0 0 0.029380 0 0 ZNF747 65988 broad.mit.edu 37 16 30545603 30545603 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr16:30545603G>C ENST00000252799.3 - 1 1065 c.398C>G c.(397-399)tCt>tGt p.S133C ZNF747_ENST00000535210.1_Missense_Mutation_p.I86M|ZNF747_ENST00000395094.3_Missense_Mutation_p.S133C|AC002310.13_ENST00000568114.1_Missense_Mutation_p.I75M|ZNF747_ENST00000568028.1_Missense_Mutation_p.I86M|ZNF747_ENST00000569360.1_Missense_Mutation_p.I86M NM_023931.2 NP_076420.1 Q9BV97 ZN747_HUMAN zinc finger protein 747 133 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 CCACCCAGGAGATGAGCGCCG 0.687000 9 14 0 0 0.047766 0 0 FAM83H 286077 broad.mit.edu 37 8 144812752 144812752 + Translation_Start_Site SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:144812752T>C ENST00000388913.3 - 2 126 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 1 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CGACGGGCCATGTTGGGGCCA 0.657000 12 25 0 0 0.093190 0 0 MICAL3 57553 broad.mit.edu 37 22 18364059 18364059 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:18364059T>C ENST00000429452.1 - 17 2604 c.2252A>G c.(2251-2253)aAg>aGg p.K751R MICAL3_ENST00000585038.1_Missense_Mutation_p.K751R|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000441493.2_Intron NM_001136004.1 NP_001129476.1 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 751 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) AGAACACTCCTTTTCCCGTTG 0.537000 80 129 0 0 0.139131 0 0 PPY 5539 broad.mit.edu 37 17 42018893 42018893 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:42018893C>T ENST00000591228.1 - 2 217 c.130G>A c.(130-132)Gag>Aag p.E44K PPY_ENST00000587006.1_Missense_Mutation_p.E44K|PPY_ENST00000225992.3_Missense_Mutation_p.E44K P01298 PAHO_HUMAN pancreatic polypeptide 44 digestion|protein secretion extracellular region hormone activity large_intestine(2)|lung(1)|skin(1) 4 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) GCCATCTGCTCTGGTGTGGCA 0.607000 44 107 0 0 0.131918 0 0 FBXL7 23194 broad.mit.edu 37 5 15928296 15928296 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:15928296G>A ENST00000504595.1 + 3 906 c.425G>A c.(424-426)cGc>cAc p.R142H FBXL7_ENST00000329673.7_Missense_Mutation_p.R130H|FBXL7_ENST00000510662.1_Missense_Mutation_p.R95H NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 142 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CGAGTGTGCCGCCGCTGGTAC 0.672000 9 15 0 0 0.047766 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33402927 33402927 + Splice_Site SNP A A T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr6:33402927A>T ENST00000418600.2 + 6 610 c.e6-1 SYNGAP1_ENST00000496374.1_Splice_Site|SYNGAP1_ENST00000428982.2_Splice_Site|SYNGAP1_ENST00000293748.5_Splice_Site NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CCTGCCTGCCAGGGCCCGGCT 0.498000 4 158 0 0 0.150653 0 0 LRP1B 53353 broad.mit.edu 37 2 141072662 141072662 + Nonsense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:141072662G>T ENST00000389484.3 - 83 13618 c.12647C>A c.(12646-12648)tCa>tAa p.S4216* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4216 EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAACTTACATGAATCATCTGT 0.303000 TSP Lung(27;0.18) 27 62 3.28513e-13 3.59651e-13 0.091800 1 0 TULP2 7288 broad.mit.edu 37 19 49398650 49398650 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:49398650C>T ENST00000221399.3 - 5 466 c.322G>A c.(322-324)Ggc>Agc p.G108S NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 108 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GTCGGGAGGCCGCGCTCGCCC 0.632000 80 126 0 0 0.139131 0 0 SPAG17 200162 broad.mit.edu 37 1 118567969 118567969 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:118567969C>A ENST00000336338.5 - 27 3866 c.3801G>T c.(3799-3801)aaG>aaT p.K1267N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1267 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACTCATAGTGCTTCACCCTCT 0.458000 71 151 2.72615e-36 3.2799e-36 0.139131 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 213 0 0 0.184627 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27887203 27887203 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:27887203C>G ENST00000326019.6 + 1 866 c.584C>G c.(583-585)tCt>tGt p.S195C NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 195 FHA. cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) GGGAGGCTGTCTGGCTGCGAC 0.632000 32 56 0 0 0.193644 0 0 PTPRC 5788 broad.mit.edu 37 1 198721488 198721488 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:198721488G>A ENST00000367376.2 + 30 3483 c.3312G>A c.(3310-3312)ctG>ctA p.L1104L PTPRC_ENST00000442510.2_Silent_p.L1106L|PTPRC_ENST00000352140.3_Silent_p.L1056L|PTPRC_ENST00000594404.1_Silent_p.L943L|PTPRC_ENST00000348564.6_Silent_p.L945L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1104 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TCTTTGAACTGAGACATTCCA 0.378000 19 148 0 0 0.083992 0 0 MAST2 23139 broad.mit.edu 37 1 46500768 46500768 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:46500768G>T ENST00000361297.2 + 29 4710 c.4427G>T c.(4426-4428)cGg>cTg p.R1476L MAST2_ENST00000372009.2_Missense_Mutation_p.R1286L|MAST2_ENST00000372008.1_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1476 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTCCCTCACGGGCCCTAGGC 0.662000 21 40 5.26018e-13 5.73161e-13 0.062417 1 0 ZNF335 63925 broad.mit.edu 37 20 44581344 44581344 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:44581344C>T ENST00000322927.2 - 19 2807 c.2707G>A c.(2707-2709)Gag>Aag p.E903K ZNF335_ENST00000426788.1_Missense_Mutation_p.E748K NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 903 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CCTGCGGGCTCCTCGCTGTGG 0.577000 30 77 0 0 0.139131 0 0 GRM7 2917 broad.mit.edu 37 3 7188164 7188164 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:7188164C>T ENST00000486284.1 + 2 819 c.545C>T c.(544-546)aCg>aTg p.T182M GRM7_ENST00000389336.4_Missense_Mutation_p.T182M|GRM7_ENST00000402647.2_Missense_Mutation_p.T182M|GRM7_ENST00000403881.1_Missense_Mutation_p.T182M|GRM7_ENST00000357716.4_Missense_Mutation_p.T182M NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 182 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TATGCATCAACGGCACCCGAG 0.502000 64 56 0 0 0.139131 0 0 SPIRE1 56907 broad.mit.edu 37 18 12453101 12453101 + Missense_Mutation SNP A A G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr18:12453101A>G ENST00000409402.4 - 14 2080 c.1813T>C c.(1813-1815)Ttc>Ctc p.F605L SPIRE1_ENST00000453447.2_Missense_Mutation_p.F471L|SPIRE1_ENST00000383356.2_Missense_Mutation_p.F432L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.F394L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.F591L NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 605 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 GACCAAGTGAAGAAGGAAAAC 0.328000 4 79 0 0 0.184627 0 0 ISX 91464 broad.mit.edu 37 22 35481475 35481475 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:35481475G>A ENST00000308700.6 + 4 1479 c.527G>A c.(526-528)cGc>cAc p.R176H ISX_ENST00000404699.2_Missense_Mutation_p.R176H NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 176 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 ACTGCTCTGCGCAGGCTGGCT 0.617000 5 261 0 0 0.047766 0 0 UNC5B 219699 broad.mit.edu 37 10 73050857 73050857 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:73050857G>A ENST00000335350.6 + 9 1701 c.1285G>A c.(1285-1287)Gca>Aca p.A429T UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 429 apoptosis|axon guidance|regulation of apoptosis integral to membrane p.A429T(2) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CTTTAAGACGGCAAGGCCCAG 0.597000 6 451 0 0 0.021553 0 0 MRPS30 10884 broad.mit.edu 37 5 44813211 44813211 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:44813211C>T ENST00000507110.1 + 4 895 c.857C>T c.(856-858)tCa>tTa p.S286L NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 286 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) TCTTCAGGCTCAAAAACTGCA 0.373000 21 128 0 0 0.204396 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 125 0 0 0.047766 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481978 140481978 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:140481978C>T ENST00000231130.2 + 1 1745 c.1745C>T c.(1744-1746)cCg>cTg p.P582L NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 582 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCTGAGCCGGGCTACCTG 0.701000 63 115 0 0 0.139131 0 0 PABPC5 140886 broad.mit.edu 37 X 90690656 90690656 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:90690656C>A ENST00000312600.3 + 2 294 c.80C>A c.(79-81)cCa>cAa p.P27Q PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 27 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 GACTTGGACCCAGATGTCACC 0.592000 21 7 0.000132079 0.0001406 0.204396 1 0 KRT33B 3884 broad.mit.edu 37 17 39522833 39522833 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:39522833G>A ENST00000251646.3 - 3 526 c.477C>T c.(475-477)atC>atT p.I159I NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 159 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) GCAGGCTGTTGATGTCGGACT 0.562000 40 82 0 0 0.124865 0 0 PALD1 27143 broad.mit.edu 37 10 72324152 72324152 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:72324152G>A ENST00000263563.6 + 19 2563 c.2295G>A c.(2293-2295)cgG>cgA p.R765R NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AAGAAATGCGGAGGCTGCAGC 0.617000 31 131 0 0 0.183431 0 0 SMARCA2 6595 broad.mit.edu 37 9 2097460 2097460 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr9:2097460C>A ENST00000382203.1 + 21 3276 c.3067C>A c.(3067-3069)Cag>Aag p.Q1023K SMARCA2_ENST00000349721.2_Missense_Mutation_p.Q1023K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Q1023K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.Q1023K P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1023 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATATATGTTTCAGCACATTGA 0.353000 64 50 2.10369e-13 2.31406e-13 0.139131 1 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143686 61143686 + RNA SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:61143686C>T ENST00000475015.1 - 0 652 C20orf166-AS1_ENST00000412495.1_RNA GCAGCCCCCTCCGCAGACCGG 0.677000 42 84 0 0 0.139131 0 0 P2RY1 5028 broad.mit.edu 37 3 152554038 152554038 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:152554038C>T ENST00000305097.3 + 1 1303 c.467C>T c.(466-468)cCc>cTc p.P156L NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 156 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) GTGGTGTACCCCCTCAAGTCC 0.527000 31 135 0 0 0.144211 0 0 APLF 200558 broad.mit.edu 37 2 68765290 68765290 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:68765290C>T ENST00000303795.4 + 7 1262 c.1091C>T c.(1090-1092)tCa>tTa p.S364L APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 364 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 GCAACTGATTCAGTTCTACAA 0.443000 64 88 0 0 0.139131 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049934 90049934 + Silent SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:90049934G>T ENST00000330947.2 + 5 2085 c.1725G>T c.(1723-1725)ctG>ctT p.L575L LRRC8B_ENST00000358200.4_Silent_p.L575L|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.L575L NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 575 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GAAGCAAACTGGTTGTGTTGA 0.463000 4 94 0.00909568 0.00946442 0.150653 1 0 FBXO15 201456 broad.mit.edu 37 18 71797839 71797839 + Nonsense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr18:71797839C>T ENST00000269500.5 - 4 494 c.159G>A c.(157-159)tgG>tgA p.W53* FBXO15_ENST00000419743.2_Nonsense_Mutation_p.W129* NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 53 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AATTAAATTTCCAATTTGATC 0.348000 4 40 0 0 0.150653 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 3 65 0.004672 0.0048834 0.115264 1 0 THBS1 7057 broad.mit.edu 37 15 39876366 39876366 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:39876366T>C ENST00000260356.5 + 5 1046 c.881T>C c.(880-882)cTg>cCg p.L294P NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 294 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GTGACCACGCTGCAGGACAGC 0.557000 19 42 0 0 0.076483 0 0 SCN4A 6329 broad.mit.edu 37 17 62034533 62034533 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr17:62034533C>T ENST00000435607.1 - 13 2441 c.2365G>A c.(2365-2367)Ggc>Agc p.G789S SCN4A_ENST00000578147.1_Missense_Mutation_p.G789S NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 789 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ACAAGATTGCCGATGACCATG 0.582000 17 43 0 0 0.175082 0 0 RPL10 6134 broad.mit.edu 37 X 153628938 153628938 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:153628938G>A ENST00000424325.2 + 6 651 c.463G>A c.(463-465)Gcc>Acc p.A155T RPL10_ENST00000406022.2_Missense_Mutation_p.A104T|RPL10_ENST00000369817.2_Missense_Mutation_p.A155T NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 155 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGCGCAGGGCCAAGTTCAA 0.582000 4 114 0 0 0.150653 0 0 HOXC9 3225 broad.mit.edu 37 12 54396297 54396297 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:54396297G>A ENST00000303450.4 + 2 692 c.622G>A c.(622-624)Gag>Aag p.E208K HOXC9_ENST00000508190.1_Missense_Mutation_p.E208K|HOXC9_ENST00000504557.1_3'UTR NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 208 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 GCTGGAACTGGAGAAGGAGTT 0.557000 62 119 0 0 0.139131 0 0 LCA5L 150082 broad.mit.edu 37 21 40778524 40778524 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr21:40778524C>T ENST00000358268.2 - 10 1825 c.1297G>A c.(1297-1299)Gag>Aag p.E433K LCA5L_ENST00000380671.2_Missense_Mutation_p.E433K|LCA5L_ENST00000288350.3_Missense_Mutation_p.E433K|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Missense_Mutation_p.S163F O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 433 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) AAATGTTTCTCTTCCCCTGAT 0.333000 59 132 0 0 0.139131 0 0 PDE12 201626 broad.mit.edu 37 3 57543358 57543358 + Missense_Mutation SNP C C G TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:57543358C>G ENST00000311180.8 + 1 1355 c.1252C>G c.(1252-1254)Cta>Gta p.L418V PDE12_ENST00000487257.1_Missense_Mutation_p.L418V NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 418 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) GCTGGAGAAACTAGTTTTGTA 0.468000 50 41 0 0 0.139131 0 0 RNF217 154214 broad.mit.edu 37 6 125404058 125404058 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr6:125404058G>A ENST00000521654.2 + 6 1604 c.1604G>A c.(1603-1605)cGa>cAa p.R535Q RNF217_ENST00000368414.2_Missense_Mutation_p.R97Q|RNF217_ENST00000275184.6_Missense_Mutation_p.R179Q|RNF217_ENST00000359704.2_3'UTR|RNF217_ENST00000560949.1_Missense_Mutation_p.R300Q Q8TC41 RN217_HUMAN ring finger protein 217 110 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CAGAGAAAACGATCACGGACA 0.393000 22 38 0 0 0.076483 0 0 SNRPB 6628 broad.mit.edu 37 20 2443871 2443871 + Silent SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:2443871C>T ENST00000339610.6 - 6 641 c.186G>A c.(184-186)gtG>gtA p.V62V SNRPB_ENST00000438552.2_Silent_p.V141V|SNRPB_ENST00000381342.2_Silent_p.V141V P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 141 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 GTGGGGTCATCACCTAAGAGG 0.552000 8 68 0 0 0.038147 0 0 CERS2 29956 broad.mit.edu 37 1 150940906 150940906 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:150940906G>A ENST00000271688.6 - 3 642 c.256C>T c.(256-258)Cat>Tat p.H86Y CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.H86Y|CERS2_ENST00000561294.1_Missense_Mutation_p.H86Y NM_181746.3 NP_859530.1 Q96G23 CERS2_HUMAN ceramide synthase 2 86 endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGGTAGAAATGTTCCAAGGTG 0.572000 42 89 0 0 0.086207 0 0 CENPE 1062 broad.mit.edu 37 4 104068527 104068527 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr4:104068527C>T ENST00000265148.3 - 29 4209 c.4120G>A c.(4120-4122)Gaa>Aaa p.E1374K CENPE_ENST00000380026.3_Missense_Mutation_p.E1349K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1374 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GCCAAAGTTTCTCTAATATGT 0.323000 7 100 0 0 0.029380 0 0 KCNN2 3781 broad.mit.edu 37 5 113831873 113831873 + Silent SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr5:113831873T>C ENST00000512097.3 + 9 2752 c.1734T>C c.(1732-1734)agT>agC p.S578S KCNN2_ENST00000264773.3_Silent_p.S578S|KCNN2_ENST00000503706.1_Silent_p.S230S|RP11-492A10.1_ENST00000514115.1_RNA Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 578 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CATCAGAGAGTAGCTAGAAGA 0.458000 3 192 0 0 0.115264 0 0 PABPC5 140886 broad.mit.edu 37 X 90690655 90690655 + Missense_Mutation SNP C C A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chrX:90690655C>A ENST00000312600.3 + 2 293 c.79C>A c.(79-81)Cca>Aca p.P27T PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 27 RRM 1. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 TGACTTGGACCCAGATGTCAC 0.592000 21 7 0.000132079 0.0001406 0.204396 1 0 FAM171B 165215 broad.mit.edu 37 2 187626381 187626381 + Nonsense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr2:187626381C>T ENST00000304698.5 + 8 1515 c.1312C>T c.(1312-1314)Cag>Tag p.Q438* NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 438 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ATATAGTCCTCAGAAAAAGGA 0.348000 41 91 0 0 0.080422 0 0 UBP1 7342 broad.mit.edu 37 3 33481236 33481236 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr3:33481236G>A ENST00000283629.3 - 1 634 c.105C>T c.(103-105)taC>taT p.Y35Y UBP1_ENST00000447368.2_Silent_p.Y35Y|UBP1_ENST00000283628.5_Silent_p.Y35Y NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 35 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 ACCTCATGCTGTAAGCGCCGG 0.667000 33 27 0 0 0.086207 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757768 99757768 + Missense_Mutation SNP T T C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:99757768T>C ENST00000360039.4 - 4 1636 c.1244A>G c.(1243-1245)gAc>gGc p.D415G GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D353G|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D415G|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 415 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTATTTGGGGTCAGAAGCCTC 0.587000 75 343 0 0 0.139131 0 0 NIPAL3 57185 broad.mit.edu 37 1 24766687 24766687 + Missense_Mutation SNP C C T rs143586098 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:24766687C>T ENST00000358028.4 + 3 468 c.119C>T c.(118-120)gCg>gTg p.A40V NIPAL3_ENST00000339255.2_Missense_Mutation_p.A40V|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.A40V|NIPAL3_ENST00000374399.4_Missense_Mutation_p.A40V Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 40 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 GCCCTCTTGGCGATCTTCGGG 0.537000 41 108 0 0 0.139131 0 0 PCLO 27445 broad.mit.edu 37 7 82582957 82582957 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:82582957G>A ENST00000423517.2 - 5 7649 c.7312C>T c.(7312-7314)Ctt>Ttt p.L2438F PCLO_ENST00000333891.8_Missense_Mutation_p.L2438F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2369 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTTTAGGAAGAATAGTTGGT 0.517000 13 11 0 0 0.105934 0 0 PSMC2 5701 broad.mit.edu 37 7 102988177 102988177 + Missense_Mutation SNP G G T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr7:102988177G>T ENST00000435765.1 + 2 430 c.19G>T c.(19-21)Gcc>Tcc p.A7S PSMC2_ENST00000292644.3_Missense_Mutation_p.A7S|PSMC2_ENST00000544811.1_5'UTR NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 7 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 TTACCTCGGTGCCGATCAGCG 0.577000 35 270 1.04594e-18 1.18437e-18 0.086207 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184678 130184678 + Silent SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr12:130184678G>A ENST00000422113.2 - 2 971 c.645C>T c.(643-645)tcC>tcT p.S215S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 215 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCTGGTCCACGGACTTCCTCC 0.692000 40 79 0 0 0.111260 0 0 MFHAS1 9258 broad.mit.edu 37 8 8748738 8748738 + Missense_Mutation SNP G G C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr8:8748738G>C ENST00000276282.6 - 1 2417 c.1831C>G c.(1831-1833)Caa>Gaa p.Q611E NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 611 Roc. endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) AGCAGGTATTGAAAATGGGCC 0.627000 49 97 0 0 0.139131 0 0 TSPAN32 10077 broad.mit.edu 37 11 2335794 2335794 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:2335794C>T ENST00000182290.4 + 6 673 c.536C>T c.(535-537)gCg>gTg p.A179V TSPAN32_ENST00000381121.3_Missense_Mutation_p.A179V|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000451520.2_Missense_Mutation_p.A168V NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 179 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) GAGGAGGCGGCGAGAGAGGTG 0.652000 9 7 0 0 0.047766 0 0 PCNXL3 399909 broad.mit.edu 37 11 65383829 65383829 + Missense_Mutation SNP C C T TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:65383829C>T ENST00000355703.3 + 1 586 c.47C>T c.(46-48)tCg>tTg p.S16L NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 16 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GTGTGGGCCTCGCTCACCGGC 0.667000 9 9 0 0 0.132662 0 0 SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 3 4 --- --- --- --- FGF2 2247 broad.mit.edu 37 4 123748299 123748300 + Frame_Shift_Ins INS - - C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr4:123748299_123748300insC ENST00000264498.3 + 1 437_438 c.369_370insC c.(367-372)gcggggfs p.AG123fs NM_002006.4 NP_001997.5 P09038 FGF2_HUMAN fibroblast growth factor 2 (basic) 123 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 8 Pentosan Polysulfate(DB00686) CTCCAGCGGCTCGGGGATCCCG 0.842 2 4 --- --- --- --- RP13-16H11.2 0 broad.mit.edu 37 10 26958525 26958527 + RNA DEL AAG AAG - rs61245710 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:26958525_26958527delAAG ENST00000446557.1 - 0 44 aagaaaagaaaagaagaaGAATC 0.335 3 6 --- --- --- --- SLC16A12 387700 broad.mit.edu 37 10 91203593 91203605 + Frame_Shift_Del DEL TCCACAAAAAAAA TCCACAAAAAAAA - TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr10:91203593_91203605delTCCACAAAAAAAA ENST00000341233.4 - 4 512_524 c.122_134delTTTTTTTTGTGGA c.(121-135)agfs p.IFFVE41fs SLC16A12_ENST00000371790.4_Frame_Shift_Del_p.IFFVE71fs NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 41 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 TGTCTGGAACTCCACAAAAAAAATTGAGATACA 0.371 12 73 --- --- --- --- PRDM11 56981 broad.mit.edu 37 11 45246125 45246126 + Frame_Shift_Ins INS - - C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:45246125_45246126insC ENST00000263765.4 + 8 1451_1452 c.1202_1203insC c.(1201-1203)gccfs p.A401fs CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Frame_Shift_Ins_p.A401fs|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Frame_Shift_Ins_p.A367fs Q9NQV5 PRD11_HUMAN PR domain containing 11 401 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GACTGGAAGGTCCCCCAGGGGG 0.579 7 255 --- --- --- --- PCNXL3 399909 broad.mit.edu 37 11 65385820 65385821 + Frame_Shift_Ins INS - - C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr11:65385820_65385821insC ENST00000355703.3 + 6 1526_1527 c.987_988insC c.(985-990)ggcagcfs p.S330fs NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 330 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCCCAGGGGGGCCAGCCCCTGA 0.634 9 89 --- --- --- --- RP11-789A21.1 0 broad.mit.edu 37 14 85695100 85695101 + RNA DEL AC AC - rs58894030 by1000genomes TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr14:85695100_85695101delAC ENST00000556016.1 - 0 209 atgtatatatacacacacacac 0.332 3 3 --- --- --- --- CHEK2P2 646096 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 7 100 --- --- --- --- PLA2G4E 123745 broad.mit.edu 37 15 42302338 42302338 + Frame_Shift_Del DEL A A - rs28736629 TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr15:42302338delA ENST00000413860.2 - 1 107 c.108delT c.(106-108)ggfs p.G38fs PLA2G4E_ENST00000399518.3_Intron Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 0 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity p.A39fs*19(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGGCCCCCCCACCCCGGGCCT 0.592 8 114 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 8 90 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 7 140 --- --- --- --- AP5S1 55317 broad.mit.edu 37 20 3804563 3804564 + Frame_Shift_Ins INS - - C TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 369ebdf4-ee27-414d-978d-3698711fae98 e30d9a49-8c83-4451-93ac-fd99ae71b265 g.chr20:3804563_3804564insC ENST00000246041.2 + 3 441_442 c.222_223insC c.(220-225)cgccccfs p.RP74fs AP5S1_ENST00000379567.2_Frame_Shift_Ins_p.RP74fs|AP5S1_ENST00000379573.2_3'UTR Q9NUS5 CT029_HUMAN adaptor-related protein complex 5, sigma 1 subunit 74 double-strand break repair via homologous recombination protein binding CATCTGGCCGGCCCCCCATGGA 0.639 7 60 --- --- --- ---