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 DPYSL4 10570 broad.mit.edu 37 10 134014387 134014387 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:134014387C>A ENST00000338492.4 + 10 1174 c.1010C>A c.(1009-1011)aCc>aAc p.T337N DPYSL4_ENST00000368629.1_Missense_Mutation_p.T237N|DPYSL4_ENST00000368627.1_Missense_Mutation_p.T237N NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 337 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) TGCACCTTCACCACTGCCCAG 0.632000 26 24 3.6726e-16 4.90464e-16 0.021523 1 0 MRVI1 10335 broad.mit.edu 37 11 10598095 10598095 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:10598095T>A ENST00000547195.1 - 20 2750 c.2250A>T c.(2248-2250)ttA>ttT p.L750F MRVI1_ENST00000541483.1_Missense_Mutation_p.L635F|MRVI1_ENST00000527509.2_Missense_Mutation_p.L750F|MRVI1_ENST00000545852.1_Missense_Mutation_p.L526F|MRVI1_ENST00000531107.1_Missense_Mutation_p.L833F|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Missense_Mutation_p.L814F|MRVI1_ENST00000552103.1_Missense_Mutation_p.L750F|MRVI1_ENST00000424001.1_Missense_Mutation_p.L526F|MRVI1_ENST00000421747.1_Missense_Mutation_p.L832F|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.L526F|MRVI1_ENST00000558540.1_Missense_Mutation_p.L526F|MRVI1_ENST00000423302.2_Missense_Mutation_p.L841F|MRVI1-AS1_ENST00000529979.1_RNA NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 814 Glu-rich. platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) ACATGACTTGTAAGAAATGGA 0.438000 62 32 0 0 0.014410 0 0 F11R 50848 broad.mit.edu 37 1 160970032 160970032 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:160970032G>C ENST00000368026.6 - 5 769 c.495C>G c.(493-495)acC>acG p.T165T F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Silent_p.T116T NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 165 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) CTTTGAACCAGGTGTATTCAG 0.512000 43 89 0 0 0.011902 0 0 DNER 92737 broad.mit.edu 37 2 230312124 230312124 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:230312124C>A ENST00000341772.4 - 8 1528 c.1394G>T c.(1393-1395)tGt>tTt p.C465F NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 465 EGF-like 6. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AAGCTGGGCACAGGTCGGCCC 0.622000 7 18 8.12818e-05 8.6684e-05 0.001984 1 0 GRIA2 2891 broad.mit.edu 37 4 158281217 158281217 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:158281217C>A ENST00000296526.7 + 13 2538 c.2213C>A c.(2212-2214)cCt>cAt p.P738H GRIA2_ENST00000393815.2_Missense_Mutation_p.P691H|GRIA2_ENST00000507898.1_Missense_Mutation_p.P691H|GRIA2_ENST00000264426.9_Missense_Mutation_p.P738H|GRIA2_ENST00000449365.1_Missense_Mutation_p.P691H NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 738 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CAAAGGAAGCCTTGCGACACC 0.483000 17 31 9.7654e-05 0.000104038 0.007413 1 0 PAPPA2 60676 broad.mit.edu 37 1 176525947 176525947 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:176525947G>T ENST00000367662.3 + 2 1653 c.489G>T c.(487-489)caG>caT p.Q163H PAPPA2_ENST00000367661.3_Missense_Mutation_p.Q163H NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 163 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCGGGATTCAGAAAGGCTCAG 0.547000 45 74 3.54909e-21 5.12701e-21 0.011902 1 0 COL11A2 1302 broad.mit.edu 37 6 33141678 33141678 + Missense_Mutation SNP C C T rs147927477 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:33141678C>T ENST00000341947.2 - 34 2782 c.2555G>A c.(2554-2556)cGa>cAa p.R852Q COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.R766Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.R771Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R831Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R792Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R745Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R805Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R826Q NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 852 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AGTGGCACCTCGGGGTCCCCG 0.607000 95 32 0 0 0.014410 0 0 OR52E2 119678 broad.mit.edu 37 11 5080735 5080735 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:5080735G>A ENST00000321522.2 - 1 122 c.123C>T c.(121-123)ctC>ctT p.L41L NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTTCCCTATGAGTGCGATCA 0.512000 30 9 0 0 0.009535 0 0 TUBA3D 113457 broad.mit.edu 37 2 132238094 132238094 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:132238094C>G ENST00000321253.6 + 4 935 c.828C>G c.(826-828)atC>atG p.I276M NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 276 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) CCCCAGTCATCTCAGCTGAGA 0.582000 118 104 0 0 0.014410 0 0 ATP9A 10079 broad.mit.edu 37 20 50310550 50310550 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:50310550G>A ENST00000338821.5 - 7 903 c.639C>T c.(637-639)gcC>gcT p.A213A ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 213 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TACTCACGGCGGCCGTGGGGA 0.617000 5 64 0 0 0.001984 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28963476 28963476 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:28963476C>G ENST00000320805.4 + 2 486 c.411C>G c.(409-411)atC>atG p.I137M NFATC2IP_ENST00000564978.1_5'UTR|NFATC2IP_ENST00000562977.1_3'UTR NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 137 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 TTCGCCTTATCCCAGATGATC 0.532000 29 65 0 0 0.013726 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427354 25427354 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:25427354C>A ENST00000424208.1 + 0 151 NR_003305.1 ATGTTGAGCCCAGAGGAAGAC 0.607000 3 18 0.004672 0.00481988 0.004672 1 0 TTN 7273 broad.mit.edu 37 2 179465865 179465865 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179465865C>G ENST00000589042.1 - 288 55990 c.55766G>C c.(55765-55767)gGc>gCc p.G18589A TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16021A|TTN_ENST00000359218.5_Missense_Mutation_p.G9649A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9716A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9524A|TTN_ENST00000591111.1_Missense_Mutation_p.G16948A|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16948 Fibronectin type-III 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTGATGAGGCCAATCTTGAG 0.393000 41 29 0 0 0.006999 0 0 POTEH 23784 broad.mit.edu 37 22 16279209 16279209 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:16279209C>G ENST00000343518.6 - 4 1065 c.1014G>C c.(1012-1014)ctG>ctC p.L338L NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 338 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CATATCTATCCAGTGCATTTA 0.313000 25 242 0 0 0.004656 0 0 CLCN3 1182 broad.mit.edu 37 4 170618416 170618416 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:170618416C>A ENST00000513761.1 + 9 1653 c.1094C>A c.(1093-1095)tCc>tAc p.S365Y CLCN3_ENST00000504131.2_Missense_Mutation_p.S348Y|CLCN3_ENST00000360642.3_Missense_Mutation_p.S338Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.S365Y NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 365 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GTTTTGAGGTCCATCAATCCA 0.353000 49 33 3.39706e-21 4.91419e-21 0.014410 1 0 VANGL2 57216 broad.mit.edu 37 1 160388994 160388994 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:160388994T>A ENST00000368061.2 + 4 869 c.395T>A c.(394-396)cTg>cAg p.L132Q NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 132 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGCCCCCACTGCTGTGGCGG 0.672000 22 36 0 0 0.007291 0 0 MUC13 56667 broad.mit.edu 37 3 124646580 124646580 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:124646580C>A ENST00000311075.3 - 2 348 c.310G>T c.(310-312)Gac>Tac p.D104Y NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 104 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GACTCACTGTCTGCAGCAGTA 0.413000 70 202 4.98926e-31 7.79012e-31 0.014410 1 0 SPTA1 6708 broad.mit.edu 37 1 158613176 158613176 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:158613176G>T ENST00000368148.3 - 31 4558 c.4378C>A c.(4378-4380)Ctc>Atc p.L1460I SPTA1_ENST00000368147.3_Missense_Mutation_p.L1460I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1460 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCAGCAATGAGGCTCTCAGCA 0.458000 8 49 1.76689e-08 2.03632e-08 0.006214 1 0 GPR143 4935 broad.mit.edu 37 X 9728837 9728837 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:9728837C>A ENST00000467482.1 - 2 426 c.280G>T c.(280-282)Gga>Tga p.G94* GPR143_ENST00000380929.2_Nonsense_Mutation_p.G114* P51810 GP143_HUMAN G protein-coupled receptor 143 94 calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Hepatocellular(5;0.000888) TTTGGGAATCCTAACCACACG 0.463000 8 1 2.62144e-13 3.35069e-13 0.004482 1 0 SLC36A1 206358 broad.mit.edu 37 5 150844126 150844126 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:150844126G>T ENST00000243389.3 + 4 509 c.286G>T c.(286-288)Ggt>Tgt p.G96C SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000521925.1_Missense_Mutation_p.G96C|SLC36A1_ENST00000520701.1_Missense_Mutation_p.G96C|SLC36A1_ENST00000429484.2_Missense_Mutation_p.G96C NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 96 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) GCACTGCATGGGTATCCTGGT 0.517000 15 9 2.31682e-05 2.50929e-05 0.003163 1 0 NEGR1 257194 broad.mit.edu 37 1 72163763 72163763 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:72163763C>A ENST00000357731.4 - 4 834 c.595G>T c.(595-597)Ggg>Tgg p.G199W NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.G71W NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 199 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TCATATTCCCCAGCCTGGTCC 0.368000 26 21 9.86323e-18 1.34475e-17 0.021523 1 0 ATP8B4 79895 broad.mit.edu 37 15 50190352 50190352 + Missense_Mutation SNP C C A rs141037209 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:50190352C>A ENST00000284509.6 - 22 2527 c.2386G>T c.(2386-2388)Gcc>Tcc p.A796S ATP8B4_ENST00000559829.1_Missense_Mutation_p.A796S NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 796 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.A796S(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACCACTTGGGCTTTCTGGAGT 0.438000 35 48 1.90571e-15 2.52882e-15 0.019004 1 0 GLRX3 10539 broad.mit.edu 37 10 131964859 131964859 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:131964859G>T ENST00000368644.1 + 5 589 c.567G>T c.(565-567)caG>caT p.Q189H GLRX3_ENST00000331244.5_Missense_Mutation_p.Q189H NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 189 Glutaredoxin 1. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) AGGTTCGACAGGGACTCAAAG 0.393000 33 46 1.74807e-11 2.15258e-11 0.010818 1 0 ACAD10 80724 broad.mit.edu 37 12 112184988 112184988 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:112184988C>G ENST00000455480.2 + 16 2662 c.2485C>G c.(2485-2487)Cag>Gag p.Q829E ACAD10_ENST00000392636.2_Missense_Mutation_p.Q400E|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.Q798E NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 798 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GACCGAGCCCCAGGTACGTCG 0.627000 23 23 0 0 0.018920 0 0 SPEF2 79925 broad.mit.edu 37 5 35712983 35712983 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:35712983G>C ENST00000440995.2 + 20 2894 c.2894G>C c.(2893-2895)aGa>aCa p.R965T SPEF2_ENST00000356031.3_Missense_Mutation_p.R970T|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 970 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCACTCAAAAGAAAAGGTACA 0.333000 5 30 0 0 0.014758 0 0 NAV3 89795 broad.mit.edu 37 12 78594282 78594282 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:78594282G>T ENST00000397909.2 + 38 6918 c.6745G>T c.(6745-6747)Gat>Tat p.D2249Y NAV3_ENST00000228327.6_Missense_Mutation_p.D2227Y|NAV3_ENST00000541270.1_Missense_Mutation_p.D79Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D2050Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D2227Y Q8IVL0 NAV3_HUMAN neuron navigator 3 2249 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TTGCCCCATGGATGTAGAAGG 0.363000 HNSCC(70;0.22) 22 61 2.27525e-19 3.22431e-19 0.021523 1 0 MFSD6 54842 broad.mit.edu 37 2 191301981 191301981 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:191301981C>T ENST00000392328.1 + 3 1550 c.1226C>T c.(1225-1227)cCg>cTg p.P409L MFSD6_ENST00000281416.7_Missense_Mutation_p.P409L NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 409 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 GTGGAGATCCCGCAGGTGGAA 0.507000 13 43 0 0 0.013537 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937260 4937260 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:4937260G>A ENST00000512825.2 - 3 1935 c.524C>T c.(523-525)gCg>gTg p.A175V SLC52A1_ENST00000424747.1_Missense_Mutation_p.A175V|SLC52A1_ENST00000254853.5_Missense_Mutation_p.A175V Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 175 integral to plasma membrane receptor activity|riboflavin transporter activity ATTGGTGGGCGCTGGTGGGCA 0.617000 39 17 0 0 0.019004 0 0 WDR59 79726 broad.mit.edu 37 16 74921599 74921599 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:74921599T>A ENST00000262144.6 - 23 2531 c.2401A>T c.(2401-2403)Act>Tct p.T801S NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 801 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CAGCCGCCAGTGTTGAGCCCT 0.473000 33 31 0 0 0.015359 0 0 DOCK10 55619 broad.mit.edu 37 2 225702528 225702528 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:225702528G>A ENST00000409592.3 - 25 2896 c.2783C>T c.(2782-2784)gCc>gTc p.A928V DOCK10_ENST00000258390.7_Missense_Mutation_p.A934V Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 934 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATGGCACTTGGCCACAATGTC 0.463000 10 34 0 0 0.006214 0 0 CNGB1 1258 broad.mit.edu 37 16 57957275 57957275 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:57957275C>T ENST00000564448.1 - 18 1587 c.1527G>A c.(1525-1527)ctG>ctA p.L509L CNGB1_ENST00000251102.8_Silent_p.L515L Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 515 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CCTCAGAGGGCAGCTTCTTCC 0.552000 16 35 0 0 0.003163 0 0 ANO5 203859 broad.mit.edu 37 11 22248963 22248963 + Missense_Mutation SNP G G A rs150652958 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:22248963G>A ENST00000324559.8 + 7 796 c.479G>A c.(478-480)cGc>cAc p.R160H NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 160 chloride channel complex|endoplasmic reticulum membrane chloride channel activity p.R160H(2) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GATATTCCCCGCCCTAAGCAC 0.433000 45 29 0 0 0.011902 0 0 NCAM1 4684 broad.mit.edu 37 11 113103017 113103017 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:113103017C>A ENST00000316851.7 + 10 1336 c.1336C>A c.(1336-1338)Cca>Aca p.P446T NCAM1_ENST00000401611.2_Missense_Mutation_p.P455T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.P328T NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 456 Ig-like C2-type 5. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCAGCTGCTGCCAAGCTCCAA 0.547000 32 38 4.23469e-30 6.58239e-30 0.015359 1 0 MYO18B 84700 broad.mit.edu 37 22 26343761 26343761 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:26343761G>T ENST00000335473.7 + 36 5965 c.5715G>T c.(5713-5715)gaG>gaT p.E1905D MYO18B_ENST00000536101.1_Missense_Mutation_p.E1905D|MYO18B_ENST00000407587.2_Missense_Mutation_p.E1906D NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1905 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACCTGAATGAGCTGATGCAGA 0.547000 27 9 2.49675e-24 3.74692e-24 0.007291 1 0 PREX2 80243 broad.mit.edu 37 8 69031742 69031742 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:69031742T>A ENST00000288368.4 + 28 3774 c.3497T>A c.(3496-3498)tTc>tAc p.F1166Y NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1166 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GAGCATCTTTTCAGCCAGGTA 0.403000 31 84 0 0 0.010818 0 0 IRAK3 11213 broad.mit.edu 37 12 66622046 66622046 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:66622046A>G ENST00000261233.4 + 8 1204 c.783A>G c.(781-783)ccA>ccG p.P261P IRAK3_ENST00000457197.2_Silent_p.P200P NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 261 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) ACACGGCCCCACTCCCTTGGC 0.423000 65 102 0 0 0.014410 0 0 IFRD2 7866 broad.mit.edu 37 3 50329919 50329919 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:50329919G>C ENST00000336089.4 - 3 338 c.339C>G c.(337-339)ctC>ctG p.L113L IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 0 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCACATCCACGAGGCTAAAAC 0.667000 3 19 0 0 0.009096 0 0 SNURF 8926 broad.mit.edu 37 15 25213180 25213180 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:25213180G>T ENST00000338094.6 + 3 273 c.212G>T c.(211-213)gGt>gTt p.G71V SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.G71V|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.G71V|SNRPN_ENST00000346403.6_5'UTR NM_003097.3|NM_005678.3 NP_003088.1|NP_005669.2 SNRPN upstream reading frame breast(2)|large_intestine(2)|lung(1) 5 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) CCAAGAGGTGGTTAAAGCCAT 0.458000 20 28 7.45023e-12 9.29496e-12 0.010504 1 0 ASCC1 51008 broad.mit.edu 37 10 73956649 73956649 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:73956649G>C ENST00000342444.4 - 6 594 c.493C>G c.(493-495)Ctt>Gtt p.L165V ASCC1_ENST00000394919.1_Missense_Mutation_p.L137V|ASCC1_ENST00000317126.4_Missense_Mutation_p.L137V|ASCC1_ENST00000394915.3_Missense_Mutation_p.L165V|ASCC1_ENST00000545550.1_Missense_Mutation_p.L159V|ASCC1_ENST00000317168.6_Missense_Mutation_p.L137V NM_001198799.2 NP_001185728.1 Q8N9N2 ASCC1_HUMAN activating signal cointegrator 1 complex subunit 1 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex RNA binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 7 AAAAAGGCAAGGAAGTGAGTG 0.458000 19 30 0 0 0.007413 0 0 OR10J1 26476 broad.mit.edu 37 1 159410379 159410379 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:159410379C>A ENST00000423932.3 + 1 868 c.831C>A c.(829-831)acC>acA p.T277T RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 277 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CAGAGAACACCAGAGAACATG 0.512000 50 70 1.12205e-10 1.35138e-10 0.014410 1 0 SLC6A2 6530 broad.mit.edu 37 16 55731844 55731844 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:55731844A>T ENST00000379906.2 + 9 1551 c.1296A>T c.(1294-1296)gcA>gcT p.A432A SLC6A2_ENST00000219833.8_Silent_p.A432A|SLC6A2_ENST00000567238.1_Silent_p.A327A|SLC6A2_ENST00000414754.3_Silent_p.A432A|SLC6A2_ENST00000561820.1_Silent_p.A432A|SLC6A2_ENST00000568943.1_Silent_p.A432A|SLC6A2_ENST00000566163.1_Silent_p.A387A NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 432 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CGGGCCTGGCAGATGACTTCC 0.577000 36 29 0 0 0.013726 0 0 HOXB9 3219 broad.mit.edu 37 17 46703128 46703128 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:46703128C>T ENST00000311177.5 - 1 711 c.504G>A c.(502-504)gaG>gaA p.E168E HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_Intron NM_024017.4 NP_076922.1 P17482 HXB9_HUMAN homeobox B9 168 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1) 12 GATCCGGCCTCTCTTTGTCCT 0.527000 31 32 0 0 0.012213 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227182 56227182 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:56227182G>C ENST00000341744.3 - 4 1110 c.791C>G c.(790-792)aCa>aGa p.T264R PMEPA1_ENST00000347215.4_Missense_Mutation_p.T229R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.T214R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.T214R|PMEPA1_ENST00000265626.4_Missense_Mutation_p.T214R NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 264 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CGCGATGTGTGTGTGGTGGAG 0.652000 4 1 0 0 0.014758 0 0 KIAA1199 57214 broad.mit.edu 37 15 81212471 81212471 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:81212471T>A ENST00000394685.3 + 15 2253 c.1834T>A c.(1834-1836)Tgc>Agc p.C612S RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.C612S|KIAA1199_ENST00000220244.3_Missense_Mutation_p.C612S Q8WUJ3 K1199_HUMAN KIAA1199 612 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTTGGGCCACTGCTTCTTCAC 0.532000 36 44 0 0 0.006230 0 0 KLF6 1316 broad.mit.edu 37 10 3822386 3822386 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:3822386C>G ENST00000497571.1 - 3 972 c.712G>C c.(712-714)Gag>Cag p.E238Q KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 238 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) AAACGCCACTCACACCCTTCC 0.532000 38 25 0 0 0.021022 0 0 GALNT8 26290 broad.mit.edu 37 12 4848446 4848446 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:4848446C>T ENST00000252318.2 + 3 964 c.627C>T c.(625-627)ccC>ccT p.P209P RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 209 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 ACCGGACGCCCTCTCGATTGT 0.428000 23 60 0 0 0.014323 0 0 MGARP 84709 broad.mit.edu 37 4 140196473 140196473 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:140196473T>A ENST00000398955.1 - 2 335 c.156A>T c.(154-156)gtA>gtT p.V52V NM_032623.3 NP_116012.2 Q8TDB4 CD049_HUMAN mitochondria-localized glutamic acid-rich protein 52 integral to membrane CTGTGACGCCTACAACCAGAT 0.373000 40 17 0 0 0.013114 0 0 MYH15 22989 broad.mit.edu 37 3 108127253 108127253 + Splice_Site SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:108127253T>A ENST00000273353.3 - 33 4612 c.e33-2 NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AAATCTCTTCTGGAGACAGAG 0.413000 26 13 0 0 0.004656 0 0 RFX3 5991 broad.mit.edu 37 9 3257090 3257090 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:3257090C>A ENST00000382004.3 - 15 2026 c.1715G>T c.(1714-1716)tGg>tTg p.W572L RFX3_ENST00000302303.1_Missense_Mutation_p.W572L|RFX3_ENST00000358730.2_Missense_Mutation_p.W572L NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 572 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ATTGTCAAGCCACGCAGCCCA 0.498000 75 25 1.79293e-35 2.86375e-35 0.014410 1 0 GPR142 350383 broad.mit.edu 37 17 72368299 72368299 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:72368299C>A ENST00000335666.4 + 4 997 c.949C>A c.(949-951)Cac>Aac p.H317N NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 317 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CAAGTGGGCTCACTGTCTCAC 0.607000 31 10 4.40665e-25 6.64181e-25 0.009535 1 0 GRID1 2894 broad.mit.edu 37 10 87675959 87675959 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:87675959C>A ENST00000327946.7 - 5 849 c.764G>T c.(763-765)tGg>tTg p.W255L NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 255 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CACAAAGACCCAGTGGCTGTC 0.507000 Multiple Myeloma(13;0.14) 12 36 7.03913e-09 8.19398e-09 0.013537 1 0 KMT2A 4297 broad.mit.edu 37 11 118307520 118307520 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:118307520C>T ENST00000534358.1 + 1 316 c.293C>T c.(292-294)tCa>tTa p.S98L KMT2A_ENST00000389506.5_Missense_Mutation_p.S98L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S98L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCATCGTCCTCAGCCTCTTCA 0.751000 10 25 0 0 0.006214 0 0 SLC12A5 57468 broad.mit.edu 37 20 44684857 44684857 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:44684857C>A ENST00000454036.1 + 22 3001 c.2925C>A c.(2923-2925)cgC>cgA p.R975R SLC12A5_ENST00000243964.3_Silent_p.R952R NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 975 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CGCGGCTCCGCCTGAACGTCC 0.582000 21 13 8.10497e-08 9.25902e-08 0.010504 1 0 PTPRB 5787 broad.mit.edu 37 12 70956859 70956859 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:70956859G>A ENST00000334414.6 - 16 3977 c.3933C>T c.(3931-3933)atC>atT p.I1311I PTPRB_ENST00000551525.1_Silent_p.I1310I|PTPRB_ENST00000538708.1_Silent_p.I1003I|PTPRB_ENST00000261266.5_Silent_p.I1093I|PTPRB_ENST00000451516.2_Silent_p.I1003I|PTPRB_ENST00000550857.1_Silent_p.I1003I|PTPRB_ENST00000550358.1_Silent_p.I1223I NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1093 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGTTCTCTGTGATCCTCAGGT 0.567000 11 20 0 0 0.010729 0 0 MAU2 23383 broad.mit.edu 37 19 19453608 19453608 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:19453608G>T ENST00000392313.5 + 9 952 c.906G>T c.(904-906)caG>caT p.Q302H MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Missense_Mutation_p.Q302H NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 302 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 ACTCCATGCAGGCCGGCTACC 0.647000 OREG0025380 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 46 1.08141e-31 1.6961e-31 0.014410 1 0 MOGS 7841 broad.mit.edu 37 2 74690480 74690480 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:74690480G>C ENST00000233616.4 - 3 775 c.613C>G c.(613-615)Ctg>Gtg p.L205V MOGS_ENST00000409065.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.L99V|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_Missense_Mutation_p.P129R NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 205 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 TAGAAGAACAGGGAGACCAAA 0.498000 22 65 0 0 0.016522 0 0 SEMA3A 10371 broad.mit.edu 37 7 83823811 83823811 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:83823811C>T ENST00000265362.3 - 1 406 c.92G>A c.(91-93)aGg>aAg p.R31K SEMA3A_ENST00000436949.1_Missense_Mutation_p.R31K NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 31 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TAATTTCAGCCTTGGCACATT 0.423000 72 43 0 0 0.014410 0 0 ZNF517 340385 broad.mit.edu 37 8 146032616 146032616 + Silent SNP G G A rs2979084 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:146032616G>A ENST00000359971.3 + 5 422 c.315G>A c.(313-315)caG>caA p.Q105Q ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Silent_p.Q105Q NM_213605.2 NP_998770.2 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) CTCCTCTGCAGAGAAAGCTCT 0.617000 14 12 0 0 0.016723 0 0 C6 729 broad.mit.edu 37 5 41176625 41176625 + Missense_Mutation SNP C C G rs143839537 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:41176625C>G ENST00000263413.3 - 8 1384 c.1120G>C c.(1120-1122)Gtg>Ctg p.V374L C6_ENST00000337836.5_Missense_Mutation_p.V374L|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 374 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.V374M(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AGGTCATACACGCCTCCCAGG 0.433000 15 36 0 0 0.004007 0 0 EPG5 57724 broad.mit.edu 37 18 43440174 43440174 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr18:43440174C>A ENST00000282041.5 - 40 6938 c.6904G>T c.(6904-6906)Ggg>Tgg p.G2302W EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2302 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ACCACCAGCCCATGCATTTTT 0.542000 22 29 3.7963e-18 5.23058e-18 0.018920 1 0 ARL4D 379 broad.mit.edu 37 17 41477332 41477332 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:41477332G>T ENST00000320033.4 + 2 439 c.232G>T c.(232-234)Ggg>Tgg p.G78W NM_001661.3 NP_001652.2 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 78 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) GTGGGACGTCGGGGGGCAGGA 0.632000 40 20 6.5261e-18 8.95622e-18 0.008740 1 0 TLE4 7091 broad.mit.edu 37 9 82340004 82340004 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:82340004A>G ENST00000376520.4 + 21 3191 c.2363A>G c.(2362-2364)tAc>tGc p.Y788C TLE4_ENST00000376544.3_Missense_Mutation_p.Y687C|TLE4_ENST00000376534.4_Missense_Mutation_p.Y393C|TLE4_ENST00000376537.4_Missense_Mutation_p.Y788C|TLE4_ENST00000376552.2_Missense_Mutation_p.Y756C|TLE4_ENST00000265284.6_Missense_Mutation_p.Y731C O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GACGACAAATACATTGTCACT 0.388000 29 18 0 0 0.019004 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575142 74575142 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:74575142A>T ENST00000354431.4 - 5 994 c.803T>A c.(802-804)cTc>cAc p.L268H LRRIQ3_ENST00000370909.2_Missense_Mutation_p.L160H|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L268H NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 268 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 ATCCTTAAGGAGCTTATCTTC 0.289000 11 24 0 0 0.008291 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061628 11061628 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:11061628T>A ENST00000390677.2 - 1 533 c.270A>T c.(268-270)atA>atT p.I90I PRR4_ENST00000536668.1_Intron NM_023920.2 NP_076409.1 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 90 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GATTAGAAACTATCCAGCTAA 0.358000 13 53 0 0 0.013537 0 0 SORCS1 114815 broad.mit.edu 37 10 108337228 108337228 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:108337228G>T ENST00000263054.6 - 26 3464 c.3457C>A c.(3457-3459)Ccg>Acg p.P1153T SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1153 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTTGAAGGCGGAGTGGCGTGT 0.527000 43 73 1.97e-11 2.42301e-11 0.010771 1 0 IPP 3652 broad.mit.edu 37 1 46206837 46206837 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:46206837G>C ENST00000396478.3 - 3 562 c.460C>G c.(460-462)Ctc>Gtc p.L154V NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 154 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) AATTCCAAGAGATCATGGCAG 0.383000 19 72 0 0 0.010504 0 0 TIAM2 26230 broad.mit.edu 37 6 155503374 155503374 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:155503374G>C ENST00000461783.3 + 15 3995 c.2722G>C c.(2722-2724)Gcg>Ccg p.A908P TIAM2_ENST00000456144.1_Missense_Mutation_p.A908P|TIAM2_ENST00000360366.4_Missense_Mutation_p.A932P|TIAM2_ENST00000367174.2_Missense_Mutation_p.A284P|TIAM2_ENST00000528391.2_Missense_Mutation_p.A244P|TIAM2_ENST00000318981.5_Missense_Mutation_p.A908P|TIAM2_ENST00000456877.2_Missense_Mutation_p.A220P|TIAM2_ENST00000529824.2_Missense_Mutation_p.A908P Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 908 PDZ. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGCAGTTACAGCGCAGGTGGA 0.522000 26 105 0 0 0.007291 0 0 RGS9 8787 broad.mit.edu 37 17 63221182 63221182 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:63221182G>A ENST00000449996.3 + 18 1533 c.1461G>A c.(1459-1461)ccG>ccA p.P487P RGS9_ENST00000443584.3_Silent_p.P487P|RGS9_ENST00000262406.9_Silent_p.P490P NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 490 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GCATGCCCCCGTCTCCTTCTA 0.647000 35 82 0 0 0.017118 0 0 KANK2 25959 broad.mit.edu 37 19 11289130 11289130 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:11289130G>A ENST00000432929.2 - 6 1795 c.1435C>T c.(1435-1437)Cct>Tct p.P479S KANK2_ENST00000586659.1_Intron|KANK2_ENST00000355150.5_Intron|KANK2_ENST00000589359.1_Missense_Mutation_p.P479S|KANK2_ENST00000589894.1_Intron NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 472 p.?(1) endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CCGCCTGGAGGGGAGGACAGC 0.677000 14 5 0 0 0.003163 0 0 SETD2 29072 broad.mit.edu 37 3 47087991 47087991 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:47087991G>C ENST00000409792.3 - 16 7126 c.7084C>G c.(7084-7086)Cag>Gag p.Q2362E NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2362 Gln-rich.|Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGCAAGGGCTGAGGCTGCCCT 0.458000 """N, F, S, Mis""" clear cell renal carcinoma 24 14 0 0 0.014323 0 0 XIRP2 129446 broad.mit.edu 37 2 168096378 168096378 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:168096378G>T ENST00000409195.1 + 6 961 c.872G>T c.(871-873)aGc>aTc p.S291I XIRP2_ENST00000409605.1_Missense_Mutation_p.S69I|XIRP2_ENST00000409728.1_Missense_Mutation_p.S324I|XIRP2_ENST00000409043.1_Missense_Mutation_p.S291I|XIRP2_ENST00000409273.1_Missense_Mutation_p.S69I|XIRP2_ENST00000420519.1_Missense_Mutation_p.S324I|XIRP2_ENST00000295237.9_Missense_Mutation_p.S291I|XIRP2_ENST00000409756.2_Missense_Mutation_p.S291I NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 116 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCAATTCATAGCAGCCAGGTT 0.373000 9 61 0.00448238 0.00463342 0.004482 1 0 P2RX1 5023 broad.mit.edu 37 17 3802963 3802963 + Nonsense_Mutation SNP G G T rs144076351 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:3802963G>T ENST00000225538.3 - 8 1114 c.840C>A c.(838-840)taC>taA p.Y280* NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 280 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) TTTTCTCTTCGTACAGCCCAT 0.567000 30 10 6.38683e-12 8.00657e-12 0.008361 1 0 C14orf39 317761 broad.mit.edu 37 14 60903708 60903708 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:60903708T>C ENST00000321731.3 - 18 1778 c.1619A>G c.(1618-1620)gAc>gGc p.D540G NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 540 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) AGTTGAAGTGTCTGATGGAAA 0.328000 43 114 0 0 0.014410 0 0 SPEG 10290 broad.mit.edu 37 2 220336995 220336995 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:220336995G>T ENST00000312358.7 + 15 4014 c.3882G>T c.(3880-3882)gtG>gtT p.V1294V SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1294 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGTGGCTGTGACGGGGAGGA 0.652000 40 29 5.20006e-24 7.77029e-24 0.011902 1 0 IPP 3652 broad.mit.edu 37 1 46206597 46206597 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:46206597G>C ENST00000396478.3 - 3 802 c.700C>G c.(700-702)Cag>Gag p.Q234E NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 234 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) AAAAGTCTCTGAGGAGGTAAT 0.353000 11 46 0 0 0.020292 0 0 UNC5D 137970 broad.mit.edu 37 8 35544096 35544096 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:35544096C>T ENST00000287272.2 + 6 805 c.785C>T c.(784-786)tCc>tTc p.S262F UNC5D_ENST00000453357.2_Missense_Mutation_p.S313F|UNC5D_ENST00000416672.1_Missense_Mutation_p.S318F|UNC5D_ENST00000404895.2_Missense_Mutation_p.S318F|UNC5D_ENST00000420357.1_Missense_Mutation_p.S262F Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 318 TSP type-1 1. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AGCGAATGGTCCGTCTGCAGT 0.517000 20 47 0 0 0.014323 0 0 CACNG5 27091 broad.mit.edu 37 17 64880696 64880696 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:64880696G>T ENST00000533854.1 + 5 725 c.488G>T c.(487-489)aGg>aTg p.R163M CACNG5_ENST00000307139.3_Missense_Mutation_p.R163M|CACNG5_ENST00000169565.3_Missense_Mutation_p.R163M Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 163 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) ATGCTCAACAGGACCAAGGAT 0.562000 40 13 2.5098e-30 3.90705e-30 0.021022 1 0 SPIDR 23514 broad.mit.edu 37 8 48309095 48309095 + Nonsense_Mutation SNP A A T rs75731959 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:48309095A>T ENST00000297423.4 + 6 1069 c.685A>T c.(685-687)Aaa>Taa p.K229* SPIDR_ENST00000541342.1_Nonsense_Mutation_p.K159*|SPIDR_ENST00000518074.1_Nonsense_Mutation_p.K169*|SPIDR_ENST00000521214.1_3'UTR NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair TCCAAGGACAAAATCAACAGA 0.403000 36 76 0 0 0.017118 0 0 KRT31 3881 broad.mit.edu 37 17 39551740 39551740 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:39551740C>A ENST00000251645.2 - 4 776 c.724G>T c.(724-726)Gaa>Taa p.E242* NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 242 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TGCTCCACTTCCCTGCGGTTG 0.617000 39 33 9.9998e-32 1.57312e-31 0.011902 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110497338 110497338 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:110497338C>T ENST00000378402.5 + 58 9746 c.9642C>T c.(9640-9642)atC>atT p.I3214I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3214 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAGAAGTATCGTTAAAATCC 0.328000 HNSCC(38;0.096) 9 39 0 0 0.010729 0 0 PIK3R1 5295 broad.mit.edu 37 5 67575537 67575537 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:67575537A>T ENST00000521381.1 + 5 1226 c.610A>T c.(610-612)Agt>Tgt p.S204C PIK3R1_ENST00000274335.5_Missense_Mutation_p.S204C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S204C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S204C NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 204 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AGCCGTTTACAGTGAAATGAT 0.428000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 37 29 0 0 0.007835 0 0 TNRC18 84629 broad.mit.edu 37 7 5410646 5410646 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:5410646T>A ENST00000399537.4 - 11 3927 c.3579A>T c.(3577-3579)gcA>gcT p.A1193A TNRC18_ENST00000430969.1_Silent_p.A1193A O15417 TNC18_HUMAN trinucleotide repeat containing 18 1193 A -> G (in dbSNP:rs12671708). DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CACAACCCCCTGCAGGGCTGG 0.697000 30 41 0 0 0.010818 0 0 MAT2B 27430 broad.mit.edu 37 5 162940624 162940624 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:162940624G>T ENST00000518095.1 + 3 395 c.322G>T c.(322-324)Gct>Tct p.A108S MAT2B_ENST00000280969.5_Missense_Mutation_p.A97S|MAT2B_ENST00000321757.6_Missense_Mutation_p.A108S|MAT2B_ENST00000518731.1_Intron Q9NZL9 MAT2B_HUMAN methionine adenosyltransferase II, beta 108 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 14 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCAGCCAGATGCTGCCTCTCA 0.358000 31 26 6.84511e-11 8.30169e-11 0.015359 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862916 10862916 + RNA SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:10862916G>A ENST00000559480.1 + 0 212 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGATTGGTGTGCCCTAGTGAT 0.537000 42 164 0 0 0.008740 0 0 FAM162B 221303 broad.mit.edu 37 6 117086410 117086410 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:117086410G>T ENST00000368557.4 - 2 327 c.181C>A c.(181-183)Cac>Aac p.H61N NM_001085480.2 NP_001078949.1 Q5T6X4 F162B_HUMAN family with sequence similarity 162, member B 61 integral to membrane large_intestine(2)|lung(4) 6 GGGACTCGGTGAATCTCCCCT 0.642000 31 22 8.88839e-20 1.26994e-19 0.010818 1 0 WDR66 144406 broad.mit.edu 37 12 122413568 122413568 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:122413568G>A ENST00000288912.4 + 19 3837 c.2983G>A c.(2983-2985)Ggc>Agc p.G995S NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 995 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GAGAGCAATTGGCTTTTACCC 0.443000 16 55 0 0 0.004990 0 0 FEZF2 55079 broad.mit.edu 37 3 62357920 62357920 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:62357920G>C ENST00000283268.3 - 2 918 c.624C>G c.(622-624)ccC>ccG p.P208P FEZF2_ENST00000486811.1_Silent_p.P208P|FEZF2_ENST00000475839.1_Silent_p.P208P NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 208 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) GAAAGAGCTTGGGGTGAGCAG 0.697000 5 2 0 0 0.014758 0 0 SRCAP 10847 broad.mit.edu 37 16 30747542 30747542 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:30747542G>A ENST00000262518.4 + 32 7136 c.6751G>A c.(6751-6753)Gaa>Aaa p.E2251K SRCAP_ENST00000395059.2_Missense_Mutation_p.E2189K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E2093K NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2251 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGCAGAAGATGAAGAGGATAT 0.468000 18 46 0 0 0.010504 0 0 PCDH9 5101 broad.mit.edu 37 13 67205539 67205539 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:67205539T>C ENST00000544246.1 - 4 3834 c.3143A>G c.(3142-3144)cAg>cGg p.Q1048R PCDH9_ENST00000377865.2_Missense_Mutation_p.Q1048R|PCDH9_ENST00000328454.5_Missense_Mutation_p.Q1014R|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q1014R NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1048 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AACACGGCGCTGCGACTACAA 0.483000 26 24 0 0 0.021523 0 0 RAB40C 57799 broad.mit.edu 37 16 640428 640428 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:640428G>T ENST00000535977.1 + 2 359 c.137G>T c.(136-138)aGt>aTt p.S46I RAB40C_ENST00000248139.3_Missense_Mutation_p.S46I|RAB40C_ENST00000539661.1_Missense_Mutation_p.S46I|RAB40C_ENST00000538492.1_Missense_Mutation_p.S46I NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 46 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) TACGCCTACAGTAACGGTAAg 0.731000 5 9 0.014758 0.015076 0.014758 1 0 PACRG 135138 broad.mit.edu 37 6 163149307 163149307 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:163149307C>G ENST00000337019.3 + 2 264 c.40C>G c.(40-42)Cca>Gca p.P14A PACRG_ENST00000366889.2_Missense_Mutation_p.P14A|PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Missense_Mutation_p.P14A NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 14 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) AAACAAATGCCCAGACAAGAT 0.483000 50 117 0 0 0.014410 0 0 SGOL1 151648 broad.mit.edu 37 3 20212684 20212684 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:20212684C>A ENST00000412997.1 - 7 1674 c.1323G>T c.(1321-1323)ctG>ctT p.L441L SGOL1_ENST00000452020.1_Silent_p.L172L|SGOL1_ENST00000419233.2_Silent_p.L189L|SGOL1_ENST00000417364.1_Silent_p.L189L|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000263753.4_Silent_p.L441L|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412868.1_Silent_p.L441L|SGOL1_ENST00000437051.1_Silent_p.L189L|SGOL1_ENST00000421451.1_Silent_p.L441L|SGOL1_ENST00000425061.1_Silent_p.L189L|SGOL1_ENST00000442720.1_Silent_p.L172L|SGOL1_ENST00000306698.2_Silent_p.L172L|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000429446.3_Silent_p.L172L NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 441 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 TGATATCCTTCAGGCTAAGAT 0.368000 29 19 4.3181e-19 6.08619e-19 0.013726 1 0 HOXD8 3234 broad.mit.edu 37 2 176995548 176995548 + Nonsense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:176995548C>T ENST00000313173.4 + 1 1081 c.454C>T c.(454-456)Caa>Taa p.Q152* HOXD8_ENST00000429017.1_5'UTR|HOXD8_ENST00000548663.1_Nonsense_Mutation_p.Q48*|HOXD8_ENST00000544999.1_Nonsense_Mutation_p.Q152*|HOXD8_ENST00000450510.2_Nonsense_Mutation_p.Q152*|HOXD-AS2_ENST00000440016.2_RNA NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 152 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TACGACCCAGCAAGAGGCCGA 0.537000 26 153 0 0 0.004656 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102991711 102991711 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:102991711G>T ENST00000375735.2 + 9 1450 c.1306G>T c.(1306-1308)Gaa>Taa p.E436* DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E436*|DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.E436* NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 436 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TATAAGCAAAGAATTGATGTT 0.313000 15 15 5.03518e-11 6.128e-11 0.007413 1 0 PTPN4 5775 broad.mit.edu 37 2 120723117 120723117 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:120723117G>T ENST00000263708.2 + 25 3225 c.2454G>T c.(2452-2454)tgG>tgT p.W818C PTPN4_ENST00000544261.1_Missense_Mutation_p.W451C NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 818 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ACATAGCCTGGCCTGACCATG 0.408000 45 60 1.89013e-27 2.89912e-27 0.014410 1 0 FAM19A5 25817 broad.mit.edu 37 22 49042485 49042485 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:49042485G>T ENST00000358295.5 + 2 343 c.168G>T c.(166-168)cgG>cgT p.R56R FAM19A5_ENST00000402357.1_Silent_p.R63R|FAM19A5_ENST00000473898.1_Intron NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 63 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) CGATCGCCCGGCAGACCGCCC 0.687000 19 7 2.54575e-18 3.53087e-18 0.010504 1 0 SNORD113-5 767565 broad.mit.edu 37 14 101404543 101404543 + RNA SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:101404543G>T ENST00000607261.1 + 0 20 NR_003233.1 GATGAGTATTGGTGGAGGTGT 0.358000 39 118 2.19962e-31 3.44476e-31 0.008740 1 0 CNTN2 6900 broad.mit.edu 37 1 205028300 205028300 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:205028300G>A ENST00000331830.4 + 6 860 c.576G>A c.(574-576)ctG>ctA p.L192L NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 192 Ig-like C2-type 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGGGAACCTGTACATTGCCC 0.572000 12 34 0 0 0.010729 0 0 GRN 2896 broad.mit.edu 37 17 42427687 42427687 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:42427687G>T ENST00000053867.3 + 5 503 c.441G>T c.(439-441)tgG>tgT p.W147C GRN_ENST00000589265.1_Missense_Mutation_p.W147C NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 147 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ATGGCTCCTGGGGGTGCTGCC 0.617000 89 36 3.28864e-39 5.32617e-39 0.014410 1 0 PKD1L1 168507 broad.mit.edu 37 7 47930312 47930312 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:47930312C>G ENST00000289672.2 - 16 2553 c.2503G>C c.(2503-2505)Gac>Cac p.D835H NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 835 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GTGGAGGAGTCGAAGCAGGGA 0.577000 16 40 0 0 0.004990 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129014 248129014 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:248129014C>A ENST00000366480.3 + 1 480 c.381C>A c.(379-381)gcC>gcA p.A127A OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GAACTGAAGCCCTTCTCCTTG 0.443000 58 213 3.79397e-19 5.35468e-19 0.014410 1 0 OR2T12 127064 broad.mit.edu 37 1 248458804 248458804 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:248458804A>C ENST00000317996.1 - 1 76 c.77T>G c.(76-78)tTc>tGc p.F26C NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AAGCATCATGAAGAGGACTTG 0.498000 60 48 0 0 0.014410 0 0 CHRM1 1128 broad.mit.edu 37 11 62678102 62678102 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:62678102C>A ENST00000306960.3 - 2 1012 c.471G>T c.(469-471)tgG>tgT p.W157C AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 157 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) TGGCTGGGGCCCAGAGCACAA 0.627000 18 37 0.00498961 0.00513738 0.004990 1 0 C1orf51 148523 broad.mit.edu 37 1 150259146 150259146 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:150259146C>A ENST00000290363.5 + 5 1387 c.938C>A c.(937-939)cCa>cAa p.P313Q C1orf51_ENST00000369094.1_Missense_Mutation_p.P225Q|C1orf51_ENST00000369095.1_Missense_Mutation_p.P313Q NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 313 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCCAGTCCCACCTACTACA 0.547000 84 97 3.77845e-26 5.73642e-26 0.014410 1 0 SLAMF9 89886 broad.mit.edu 37 1 159923122 159923122 + Missense_Mutation SNP T T G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:159923122T>G ENST00000368093.3 - 2 484 c.368A>C c.(367-369)cAg>cCg p.Q123P SLAMF9_ENST00000368092.3_Missense_Mutation_p.Q123P|SLAMF9_ENST00000466773.1_Intron NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 123 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATTGTACTGCTGCATGGTAGA 0.502000 31 72 0 0 0.010818 0 0 KRI1 65095 broad.mit.edu 37 19 10670525 10670525 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:10670525C>T ENST00000312962.6 - 10 925 c.906G>A c.(904-906)caG>caA p.Q302Q KRI1_ENST00000361821.5_Silent_p.Q298Q NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 302 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AATTGTACTTCTGTTCAAAGT 0.602000 24 31 0 0 0.018920 0 0 NID1 4811 broad.mit.edu 37 1 236205510 236205510 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:236205510C>T ENST00000264187.6 - 4 917 c.835G>A c.(835-837)Gtg>Atg p.V279M NID1_ENST00000366595.3_Missense_Mutation_p.V279M NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 279 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCGAGGATCACGTCTGCAGGC 0.577000 77 220 0 0 0.014410 0 0 B4GALNT4 338707 broad.mit.edu 37 11 376074 376074 + Splice_Site SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:376074G>T ENST00000329962.6 + 12 1096 c.1095_splice c.e12-1 p.V366_splice NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 366 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACCCCCCAGGTGTACCTGTC 0.672000 11 7 2.80697e-09 3.28952e-09 0.010729 1 0 RIMS1 22999 broad.mit.edu 37 6 73110196 73110196 + Splice_Site SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:73110196A>G ENST00000264839.7 + 30 4407 c.e30-1 RIMS1_ENST00000431478.2_Splice_Site|RIMS1_ENST00000414192.2_Splice_Site|RIMS1_ENST00000538414.1_Splice_Site|RIMS1_ENST00000523963.1_Splice_Site|RIMS1_ENST00000522291.1_Splice_Site|RIMS1_ENST00000425662.2_Splice_Site|RIMS1_ENST00000348717.5_Splice_Site|RIMS1_ENST00000517827.1_Splice_Site|RIMS1_ENST00000521978.1_Splice_Site|RIMS1_ENST00000520567.1_Splice_Site|RIMS1_ENST00000518273.1_Splice_Site|RIMS1_ENST00000517960.1_Splice_Site|RIMS1_ENST00000401910.3_Splice_Site|RIMS1_ENST00000491071.2_Splice_Site Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTATCTCTGCAGGTGATTGTC 0.478000 10 40 0 0 0.006214 0 0 DGKH 160851 broad.mit.edu 37 13 42734234 42734234 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:42734234C>T ENST00000379274.2 + 7 838 c.409C>T c.(409-411)Cgt>Tgt p.R137C DGKH_ENST00000538674.1_Intron|DGKH_ENST00000337343.4_Missense_Mutation_p.R273C|DGKH_ENST00000261491.4_Missense_Mutation_p.R273C|DGKH_ENST00000536612.1_Missense_Mutation_p.R137C|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.R273C Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 273 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CAGTGTTCTCCGTCTACAGGA 0.478000 51 84 0 0 0.014410 0 0 WSCD2 9671 broad.mit.edu 37 12 108603897 108603897 + Splice_Site SNP G G T rs34325107 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:108603897G>T ENST00000332082.4 + 5 1315 c.e5-1 WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000261400.3_Splice_Site|WSCD2_ENST00000549903.1_Splice_Site Q2TBF2 WSCD2_HUMAN WSC domain containing 2 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GCCTCCCCCAGGGGTTACCTG 0.652000 13 35 2.31682e-05 2.50929e-05 0.003163 1 0 LIAS 11019 broad.mit.edu 37 4 39478734 39478734 + Nonstop_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:39478734A>T ENST00000261434.3 + 11 1236 c.1118A>T c.(1117-1119)tAa>tTa p.*373L LIAS_ENST00000381846.1_Nonstop_Mutation_p.*330L|LIAS_ENST00000340169.2_3'UTR|LIAS_ENST00000513731.1_Nonstop_Mutation_p.*243L NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 0 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) AAAGACCTCTAAAACTTCAAC 0.328000 10 18 0 0 0.008291 0 0 RGL3 57139 broad.mit.edu 37 19 11507958 11507958 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:11507958C>A ENST00000380456.3 - 18 2039 c.1976G>T c.(1975-1977)tGt>tTt p.C659F RGL3_ENST00000393423.3_Missense_Mutation_p.C665F|RGL3_ENST00000568628.1_5'UTR NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 659 Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 CTGATAGTCACAGGCCCAGGG 0.642000 43 36 1.21353e-23 1.80301e-23 0.014410 1 0 FADS6 283985 broad.mit.edu 37 17 72875708 72875708 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:72875708G>A ENST00000310226.6 - 5 746 c.732C>T c.(730-732)atC>atT p.I244I NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 250 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) TGGGCAGTCCGATGTGCTGTG 0.642000 5 22 0 0 0.014758 0 0 GGN 199720 broad.mit.edu 37 19 38877102 38877102 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:38877102G>A ENST00000334928.6 - 3 932 c.800C>T c.(799-801)tCg>tTg p.S267L AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 267 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.S267L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCCCCCAGCGAAGCTTTGGC 0.647000 5 79 0 0 0.014758 0 0 NFIC 4782 broad.mit.edu 37 19 3449039 3449039 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:3449039A>T ENST00000589123.1 + 7 1079 c.959A>T c.(958-960)gAg>gTg p.E320V NFIC_ENST00000590282.1_Missense_Mutation_p.E329V|NFIC_ENST00000443272.2_Missense_Mutation_p.E329V|NFIC_ENST00000586919.1_Missense_Mutation_p.E296V|NFIC_ENST00000395111.3_Missense_Mutation_p.E320V|NFIC_ENST00000346156.5_Missense_Mutation_p.E296V|NFIC_ENST00000341919.3_Missense_Mutation_p.E329V NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 329 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AAGAAGACAGAGATGGACAAG 0.637000 27 16 0 0 0.005443 0 0 FAM9C 171484 broad.mit.edu 37 X 13061250 13061250 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:13061250G>C ENST00000542843.1 - 3 389 c.179C>G c.(178-180)aCg>aGg p.T60R FAM9C_ENST00000380625.3_Missense_Mutation_p.T60R|FAM9C_ENST00000333995.3_Missense_Mutation_p.T60R Q8IZT9 FAM9C_HUMAN family with sequence similarity 9, member C 60 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 ACTTTACCCCGTGTGTTCATC 0.413000 72 51 0 0 0.014410 0 0 PLCH1 23007 broad.mit.edu 37 3 155200325 155200325 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:155200325G>C ENST00000460012.1 - 23 3757 c.3400C>G c.(3400-3402)Ctg>Gtg p.L1134V PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.L1134V|PLCH1_ENST00000340059.7_Missense_Mutation_p.L1172V|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.L1134V Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1172 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTCTCCTGCAGAATTGCAGTT 0.458000 18 68 0 0 0.007413 0 0 USP45 85015 broad.mit.edu 37 6 99958050 99958050 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:99958050C>A ENST00000327681.6 - 2 579 c.47G>T c.(46-48)aGa>aTa p.R16I USP45_ENST00000369232.2_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.R16I|USP45_ENST00000369231.3_Missense_Mutation_p.R16I|USP45_ENST00000329966.5_Missense_Mutation_p.R16I|USP45_ENST00000369233.2_Missense_Mutation_p.R16I|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000472914.2_Missense_Mutation_p.R16I NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 16 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) CCTTTTACTTCTTTTGGCTTT 0.358000 23 100 1.2476e-16 1.67686e-16 0.006320 1 0 GLCE 26035 broad.mit.edu 37 15 69548323 69548323 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:69548323G>C ENST00000261858.2 + 3 406 c.178G>C c.(178-180)Gag>Cag p.E60Q GLCE_ENST00000559420.2_5'UTR NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 60 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 AGCAGCATCTGAGAGTAACAA 0.478000 26 90 0 0 0.018920 0 0 IGSF8 93185 broad.mit.edu 37 1 160063857 160063857 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:160063857C>A ENST00000368086.1 - 3 763 c.547G>T c.(547-549)Gca>Tca p.A183S IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.A183S Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 183 Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CAGCCCAGTGCCAGCTCCTGC 0.667000 28 49 3.65163e-15 4.81498e-15 0.006320 1 0 COL2A1 1280 broad.mit.edu 37 12 48378332 48378332 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:48378332C>G ENST00000380518.3 - 28 2048 c.1884G>C c.(1882-1884)ctG>ctC p.L628L COL2A1_ENST00000337299.6_Silent_p.L559L|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 628 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TACTTACCCTCAGACCAGGAG 0.637000 18 30 0 0 0.007413 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838505 155838505 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:155838505C>A ENST00000490337.1 + 1 169 c.105C>A c.(103-105)ccC>ccA p.P35P KCNAB1_ENST00000389636.5_Silent_p.P35P NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 35 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ACAAATCTCCCAAGAAAGCCT 0.557000 49 71 5.7616e-29 8.91595e-29 0.014410 1 0 IQSEC3 440073 broad.mit.edu 37 12 274923 274923 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:274923C>A ENST00000538872.1 + 11 2956 c.2838C>A c.(2836-2838)acC>acA p.T946T RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.T643T|IQSEC3_ENST00000326261.4_Silent_p.T946T Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 946 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CACTGGTGACCCCGCTCTCGG 0.612000 8 57 0.000673444 0.000707354 0.008291 1 0 ZC3H3 23144 broad.mit.edu 37 8 144620328 144620328 + Missense_Mutation SNP A A C rs140254248 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:144620328A>C ENST00000262577.5 - 2 1240 c.1209T>G c.(1207-1209)caT>caG p.H403Q NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 403 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GCTGGGAGGCATGGTCCTTGC 0.647000 4 47 0 0 0.009096 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627360 140627360 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:140627360C>T ENST00000231173.3 + 1 2214 c.2214C>T c.(2212-2214)gaC>gaT p.D738D NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 738 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCTGGTGGACGTGAGCGGCA 0.602000 47 96 0 0 0.014410 0 0 HYAL3 8372 broad.mit.edu 37 3 50332763 50332763 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:50332763G>A ENST00000336307.1 - 2 543 c.271C>T c.(271-273)Cac>Tac p.H91Y HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.H91Y|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.H91Y NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 91 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCCCCATTGTGAGCTGTGCCC 0.587000 22 49 0 0 0.016522 0 0 SP140 11262 broad.mit.edu 37 2 231174703 231174703 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:231174703G>A ENST00000392045.3 + 23 2237 c.2123G>A c.(2122-2124)tGt>tAt p.C708Y SP140_ENST00000417495.3_Missense_Mutation_p.C594Y|SP140_ENST00000420434.3_Missense_Mutation_p.C681Y|SP140_ENST00000343805.6_Missense_Mutation_p.C648Y|SP140_ENST00000350136.5_Missense_Mutation_p.C577Y|SP140_ENST00000486687.2_Missense_Mutation_p.C632Y NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 708 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGCGACACTTGTTCAAGAGTC 0.512000 25 72 0 0 0.006320 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442667 22442667 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:22442667C>G ENST00000265810.4 + 4 568 c.453C>G c.(451-453)atC>atG p.I151M PDLIM2_ENST00000397761.2_Missense_Mutation_p.I151M|PDLIM2_ENST00000397760.4_Missense_Mutation_p.I151M|PDLIM2_ENST00000409417.1_Missense_Mutation_p.I151M|PDLIM2_ENST00000339162.7_Missense_Mutation_p.I151M|PDLIM2_ENST00000308354.7_Missense_Mutation_p.I401M|PDLIM2_ENST00000409141.1_Missense_Mutation_p.I151M|PDLIM2_ENST00000448520.1_3'UTR NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 151 Ser-rich. actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding p.I401I(1)|p.I151I(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) AGGCAGCCATCAGCCGCAGGT 0.662000 17 13 0 0 0.006122 0 0 TDRD3 81550 broad.mit.edu 37 13 61109367 61109367 + Splice_Site SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:61109367G>C ENST00000196169.3 + 12 2627 c.1839_splice c.e12+1 p.W613_splice TDRD3_ENST00000377894.2_Splice_Site_p.W613_splice|TDRD3_ENST00000377881.2_Splice_Site_p.W613_splice|TDRD3_ENST00000535286.1_Splice_Site_p.W706_splice NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 613 Tudor. chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CAGAGGCATGGGTACGTGATA 0.358000 15 74 0 0 0.004007 0 0 FAT2 2196 broad.mit.edu 37 5 150911376 150911376 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:150911376G>T ENST00000261800.5 - 13 9595 c.9583C>A c.(9583-9585)Cca>Aca p.P3195T NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3195 Cadherin 28. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCGGTATTGGGGTGCCCAGG 0.662000 44 27 8.00217e-19 1.1203e-18 0.014410 1 0 PROSC 11212 broad.mit.edu 37 8 37620234 37620234 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:37620234G>T ENST00000328195.3 + 1 124 c.57G>T c.(55-57)gcG>gcT p.A19A NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 19 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) CATTGCGGGCGGTGAACGAGC 0.746000 3 5 0.014758 0.015076 0.014758 1 0 ISPD 729920 broad.mit.edu 37 7 16317786 16317786 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:16317786G>C ENST00000407010.2 - 6 900 c.901C>G c.(901-903)Ctt>Gtt p.L301V ISPD_ENST00000479493.1_5'UTR|ISPD_ENST00000399310.3_Missense_Mutation_p.L251V NM_001101426.3 NP_001094896.1 A4D126 ISPD_HUMAN isoprenoid synthase domain containing 301 isoprenoid biosynthetic process nucleotidyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 TCTTCAAGAAGATGACCTACA 0.274000 Multiple Myeloma(15;0.18) 5 16 0 0 0.001984 0 0 AMZ1 155185 broad.mit.edu 37 7 2752151 2752151 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:2752151C>T ENST00000312371.4 + 7 1504 c.1136C>T c.(1135-1137)tCg>tTg p.S379L AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 379 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) ACCTTCGCCTCGGGGCCAGAG 0.692000 6 17 0 0 0.001168 0 0 UFC1 51506 broad.mit.edu 37 1 161123883 161123883 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:161123883G>A ENST00000368003.5 + 1 342 c.96G>A c.(94-96)ctG>ctA p.L32L UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA NM_016406.3 NP_057490.2 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 32 protein ufmylation protein binding|UFM1 conjugating enzyme activity endometrium(1)|lung(9) 10 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGCAGCGACTGAAGGAGGAAT 0.527000 58 90 0 0 0.014410 0 0 TRPV3 162514 broad.mit.edu 37 17 3446796 3446796 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:3446796G>A ENST00000301365.4 - 5 569 c.438C>T c.(436-438)tgC>tgT p.C146C TRPV3_ENST00000572519.1_Silent_p.C146C|TRPV3_ENST00000576742.1_Silent_p.C146C Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 146 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GGCGCCGCCTGCAAAGCTCCT 0.617000 29 60 0 0 0.007291 0 0 KIAA1456 57604 broad.mit.edu 37 8 12879225 12879225 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:12879225G>T ENST00000524591.2 + 5 1526 c.1037G>T c.(1036-1038)gGg>gTg p.G346V KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 346 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 AGAAATGGAGGGGGAAATTTT 0.418000 14 11 1.5842e-08 1.83387e-08 0.016723 1 0 KEAP1 9817 broad.mit.edu 37 19 10610419 10610419 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:10610419C>A ENST00000171111.5 - 2 838 c.291G>T c.(289-291)aaG>aaT p.K97N KEAP1_ENST00000393623.2_Missense_Mutation_p.K97N NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 97 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCAGCACCACCTTGTGGGCCA 0.612000 40 11 2.87052e-16 3.84333e-16 0.005524 1 0 ZNF890P 645700 broad.mit.edu 37 7 5167301 5167301 + RNA SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:5167301C>G ENST00000422060.2 - 0 550 NR_034163.1 GTACAGGGTCCTCTGCTCCAG 0.562000 7 21 0 0 0.003080 0 0 PJA1 64219 broad.mit.edu 37 X 68382735 68382735 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:68382735C>A ENST00000361478.1 - 2 724 c.347G>T c.(346-348)gGa>gTa p.G116V PJA1_ENST00000374571.4_Missense_Mutation_p.G61V|PJA1_ENST00000374583.1_Missense_Mutation_p.G116V|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000477231.1_5'UTR NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 116 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 GTCAATATGTCCATAGGCCAT 0.498000 34 22 2.20474e-14 2.88887e-14 0.017118 1 0 LRFN5 145581 broad.mit.edu 37 14 42360680 42360680 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:42360680T>C ENST00000298119.4 + 4 2802 c.1613T>C c.(1612-1614)gTa>gCa p.V538A LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 538 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGAATCATTGTAGCATCTGTG 0.403000 HNSCC(30;0.082) 4 109 0 0 0.014758 0 0 SLIT3 6586 broad.mit.edu 37 5 168310292 168310292 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:168310292C>A ENST00000519560.1 - 5 882 c.463G>T c.(463-465)Ggc>Tgc p.G155C SLIT3_ENST00000404867.3_Missense_Mutation_p.G155C|SLIT3_ENST00000332966.8_Missense_Mutation_p.G155C NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 155 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCGGTGATGCCGCGGAACGCC 0.502000 27 22 2.4375e-19 3.44954e-19 0.007291 1 0 TTN 7273 broad.mit.edu 37 2 179478506 179478506 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179478506T>C ENST00000589042.1 - 263 49728 c.49504A>G c.(49504-49506)Aag>Gag p.K16502E TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13934E|TTN_ENST00000359218.5_Missense_Mutation_p.K7562E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K7629E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K7437E|TTN_ENST00000591111.1_Missense_Mutation_p.K14861E|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14861 Fibronectin type-III 19. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGGCATCTTATTGCATCTA 0.418000 71 111 0 0 0.014410 0 0 COPB2 9276 broad.mit.edu 37 3 139092570 139092570 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:139092570C>A ENST00000333188.5 - 8 1013 c.832G>T c.(832-834)Gcc>Tcc p.A278S COPB2_ENST00000507777.1_Missense_Mutation_p.A249S NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 278 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 CTTAGACTGGCCACGCACCAT 0.438000 12 79 1.08611e-07 1.23669e-07 0.010729 1 0 MORF4L1 10933 broad.mit.edu 37 15 79186409 79186409 + Silent SNP G G T rs146848001 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:79186409G>T ENST00000331268.5 + 11 960 c.756G>T c.(754-756)gcG>gcT p.A252A MORF4L1_ENST00000559345.1_Silent_p.A125A|MORF4L1_ENST00000558502.1_Silent_p.A125A|MORF4L1_ENST00000558746.1_Silent_p.A186A|MORF4L1_ENST00000426013.2_Silent_p.A213A|MORF4L1_ENST00000379535.4_Silent_p.A238A|MORF4L1_ENST00000561171.1_Intron NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 252 Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 GGGAGTATGCGGTTAATGAAG 0.333000 72 106 1.25742e-37 2.02391e-37 0.014410 1 0 TBCEL 219899 broad.mit.edu 37 11 120957514 120957514 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:120957514G>T ENST00000422003.2 + 8 1172 c.984G>T c.(982-984)ggG>ggT p.G328G TBCEL_ENST00000529397.1_Silent_p.G328G NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 328 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) CTAAATATGGGAAGTTGGAGC 0.433000 18 27 3.51602e-12 4.43972e-12 0.008871 1 0 PRRC2A 7916 broad.mit.edu 37 6 31603433 31603433 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:31603433G>A ENST00000376033.2 + 24 5682 c.5448G>A c.(5446-5448)ctG>ctA p.L1816L PRRC2A_ENST00000376007.4_Silent_p.L1816L NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1816 cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCAAGAACCTGGATTCTGGGC 0.602000 5 45 0 0 0.001168 0 0 ANLN 54443 broad.mit.edu 37 7 36460353 36460353 + Splice_Site SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:36460353G>T ENST00000265748.2 + 12 2384 c.2163_splice c.e12+1 p.Q721_splice ANLN_ENST00000396068.2_Splice_Site_p.Q684_splice NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 721 cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 AGAAAATGCAGGTATGTACTT 0.408000 44 68 1.03325e-14 1.35898e-14 0.011902 1 0 OR8I2 120586 broad.mit.edu 37 11 55861052 55861052 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:55861052G>A ENST00000302124.2 + 1 300 c.269G>A c.(268-270)aGa>aAa p.R90K OR8I2_ENST00000560768.1_Missense_Mutation_p.R90K Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TCCAATCGGAGATCCATCTCC 0.398000 81 132 0 0 0.014410 0 0 TNC 3371 broad.mit.edu 37 9 117819515 117819515 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:117819515G>C ENST00000350763.4 - 15 4907 c.4496C>G c.(4495-4497)cCc>cGc p.P1499R TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.P1135R|TNC_ENST00000535648.1_Missense_Mutation_p.P1135R|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.P1135R|TNC_ENST00000341037.4_Missense_Mutation_p.P1408R|TNC_ENST00000423613.2_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1499 Fibronectin type-III 10. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGTACTAGGGGGTAGCCCTGA 0.468000 37 43 0 0 0.019004 0 0 UBR3 130507 broad.mit.edu 37 2 170843259 170843259 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:170843259G>C ENST00000272793.5 + 25 3789 c.3739G>C c.(3739-3741)Gaa>Caa p.E1247Q UBR3_ENST00000418381.1_Missense_Mutation_p.E1247Q|UBR3_ENST00000392631.1_Missense_Mutation_p.E68Q Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1247 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 CCCCTCCTCTGAAGATCGACC 0.418000 52 41 0 0 0.014410 0 0 ANGPT4 51378 broad.mit.edu 37 20 860413 860413 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:860413G>A ENST00000381922.3 - 6 1132 c.1030C>T c.(1030-1032)Cgg>Tgg p.R344W ANGPT4_ENST00000546022.1_Missense_Mutation_p.R344W NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 344 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TTCCAGTTCCGCTGAAAATTC 0.612000 30 15 0 0 0.007291 0 0 MLLT6 4302 broad.mit.edu 37 17 36861943 36861943 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:36861943A>T ENST00000325718.7 + 1 149 c.58A>T c.(58-60)Aac>Tac p.N20Y CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Missense_Mutation_p.N20Y NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 20 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CTGGGCCGAGAACCCGCTGGT 0.736000 T MLL AL 11 37 0 0 0.013537 0 0 MYOCD 93649 broad.mit.edu 37 17 12626276 12626276 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:12626276G>C ENST00000425538.1 + 5 566 c.366G>C c.(364-366)gtG>gtC p.V122V MYOCD_ENST00000395988.1_Silent_p.V26V|MYOCD_ENST00000343344.4_Silent_p.V122V NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 122 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGGAGCTGGTGGAAAAAAACA 0.468000 29 69 0 0 0.008361 0 0 ABCA12 26154 broad.mit.edu 37 2 215882824 215882824 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:215882824C>A ENST00000272895.7 - 14 1909 c.1690G>T c.(1690-1692)Gag>Tag p.E564* ABCA12_ENST00000389661.4_Nonsense_Mutation_p.E246* NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 564 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCTTTCAGCTCTTCAACATTT 0.388000 9 20 1.12685e-05 1.23456e-05 0.004482 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140774104 140774104 + Missense_Mutation SNP T T G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:140774104T>G ENST00000398604.2 + 1 1724 c.1724T>G c.(1723-1725)gTg>gGg p.V575G PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACTGGCGTGGAGCTGGCG 0.657000 43 47 0 0 0.014410 0 0 OSBPL5 114879 broad.mit.edu 37 11 3111858 3111858 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:3111858C>G ENST00000263650.7 - 20 2487 c.2328G>C c.(2326-2328)gaG>gaC p.E776D OSBPL5_ENST00000478260.1_Missense_Mutation_p.E230D|OSBPL5_ENST00000542243.1_Missense_Mutation_p.E407D|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E708D|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E708D|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E687D NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 776 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) ATCCGCTGCTCTCCGTGGCCT 0.662000 11 17 0 0 0.013537 0 0 COPG1 22820 broad.mit.edu 37 3 128971504 128971504 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:128971504C>T ENST00000314797.6 + 4 314 c.210C>T c.(208-210)ttC>ttT p.F70F NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 70 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity CCGAGGCCTTCTTTGCCATGA 0.537000 52 40 0 0 0.014410 0 0 PDE6C 5146 broad.mit.edu 37 10 95405728 95405728 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:95405728C>A ENST00000371447.3 + 15 1997 c.1859C>A c.(1858-1860)cCa>cAa p.P620Q NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 620 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TCCACGTCTCCATTAGCAAGA 0.393000 23 33 9.04412e-07 1.01213e-06 0.004656 1 0 FAAH2 158584 broad.mit.edu 37 X 57337068 57337068 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:57337068G>A ENST00000374900.4 + 3 438 c.318G>A c.(316-318)aaG>aaA p.K106K NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 106 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 TAGATCAAAAGCTTGCAGAGA 0.418000 HNSCC(52;0.14) 25 5 0 0 0.021523 0 0 C10orf12 26148 broad.mit.edu 37 10 98741671 98741671 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:98741671A>C ENST00000286067.2 + 1 631 c.524A>C c.(523-525)gAg>gCg p.E175A NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 175 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGCCACTTTGAGAATCAAAAA 0.388000 42 75 0 0 0.006999 0 0 GRIK3 2899 broad.mit.edu 37 1 37356671 37356671 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:37356671G>A ENST00000373091.3 - 2 158 c.142C>T c.(142-144)Ccc>Tcc p.P48S GRIK3_ENST00000373093.4_Missense_Mutation_p.P48S NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 48 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGGCGTTGGGGCCGTCCGCA 0.517000 75 153 0 0 0.014410 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 29 0 0 0.004672 0 0 NISCH 11188 broad.mit.edu 37 3 52514220 52514220 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:52514220C>T ENST00000345716.4 + 13 1571 c.1437C>T c.(1435-1437)ctC>ctT p.L479L NISCH_ENST00000420808.2_Silent_p.L479L|NISCH_ENST00000479054.1_Silent_p.L479L|NISCH_ENST00000488380.1_Silent_p.L479L NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 479 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ACTCCCGGCTCTCAGCTGCCC 0.642000 20 62 0 0 0.012319 0 0 GNRHR 2798 broad.mit.edu 37 4 68610423 68610423 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:68610423A>G ENST00000226413.4 - 2 629 c.605T>C c.(604-606)tTt>tCt p.F202S RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Intron|RP11-453E17.1_ENST00000502758.1_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 202 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) CCATTGTGAAAAACTGCAGTG 0.378000 28 103 0 0 0.009535 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711057 195711057 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:195711057C>A ENST00000427841.1 - 0 675 NR_003264.2 GCCTGCCCGCCCTTTCCAAAC 0.547000 27 65 4.87955e-14 6.33007e-14 0.005443 1 0 HGSNAT 138050 broad.mit.edu 37 8 43052821 43052821 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:43052821A>C ENST00000458501.2 + 16 1633 c.1633A>C c.(1633-1635)Att>Ctt p.I545L HGSNAT_ENST00000379644.4_Missense_Mutation_p.I517L|HGSNAT_ENST00000521576.1_Missense_Mutation_p.I234L|HGSNAT_ENST00000297798.7_Missense_Mutation_p.I249L Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 545 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ACAGGGGCTCATTTCTGTTGC 0.333000 18 79 0 0 0.006122 0 0 VANGL2 57216 broad.mit.edu 37 1 160385889 160385889 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:160385889G>T ENST00000368061.2 + 3 583 c.109G>T c.(109-111)Ggg>Tgg p.G37W NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 37 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GAGTCGAGATGGGGGCCGAGG 0.642000 37 45 2.38352e-08 2.74394e-08 0.019004 1 0 FST 10468 broad.mit.edu 37 5 52778750 52778750 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:52778750C>A ENST00000396947.3 + 2 292 c.126C>A c.(124-126)tgC>tgA p.C42* FST_ENST00000256759.3_Nonsense_Mutation_p.C42* NM_006350.3 NP_006341.1 P19883 FST_HUMAN follistatin 42 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) ACGGCCGCTGCCAGGTCCTGT 0.627000 OREG0016608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 7 1.1804e-14 1.55057e-14 0.021523 1 0 PPM1K 152926 broad.mit.edu 37 4 89183819 89183819 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:89183819C>A ENST00000295908.6 - 7 1436 c.1047G>T c.(1045-1047)tgG>tgT p.W349C NM_152542.3 NP_689755.3 Q8N3J5 PPM1K_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1K 349 protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) TATATTTTCCCCAGGCACCAA 0.448000 20 35 1.50039e-11 1.85196e-11 0.012319 1 0 SETD2 29072 broad.mit.edu 37 3 47162747 47162747 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:47162747G>C ENST00000409792.3 - 3 3421 c.3379C>G c.(3379-3381)Caa>Gaa p.Q1127E NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1127 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTATCAGTTTGAGGACAGGCT 0.363000 """N, F, S, Mis""" clear cell renal carcinoma 52 25 0 0 0.014410 0 0 PELI2 57161 broad.mit.edu 37 14 56763458 56763458 + Silent SNP C C T rs148290454 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:56763458C>T ENST00000267460.4 + 6 1123 c.837C>T c.(835-837)gcC>gcT p.A279A NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 279 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 AGATTAACGCCGCCCGGCCTC 0.572000 13 17 0 0 0.020292 0 0 YY1AP1 55249 broad.mit.edu 37 1 155630103 155630103 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:155630103C>A ENST00000368340.5 - 10 2060 c.1952G>T c.(1951-1953)aGa>aTa p.R651I MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R502I|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R671I|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R502I|YY1AP1_ENST00000535662.1_Missense_Mutation_p.R379I|YY1AP1_ENST00000368330.2_Missense_Mutation_p.R533I|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R533I|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R522I|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R513I|YY1AP1_ENST00000359205.5_Missense_Mutation_p.R522I|YY1AP1_ENST00000347088.5_Missense_Mutation_p.R533I|YY1AP1_ENST00000295566.4_Missense_Mutation_p.R579I NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGCTCCCCTTCTTTTTGAGGG 0.522000 46 92 4.75955e-12 5.98097e-12 0.014410 1 0 BNC1 646 broad.mit.edu 37 15 83926398 83926398 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:83926398G>T ENST00000345382.2 - 5 2866 c.2781C>A c.(2779-2781)ccC>ccA p.P927P BNC1_ENST00000569704.1_Silent_p.P920P|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 927 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GACAGGTTATGGGCAACCCAG 0.532000 104 139 7.80449e-65 1.29619e-64 0.014410 1 0 DTNB 1838 broad.mit.edu 37 2 25610209 25610209 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:25610209C>G ENST00000406818.3 - 18 2023 c.1774G>C c.(1774-1776)Gct>Cct p.A592P DTNB_ENST00000545439.1_Missense_Mutation_p.A381P|DTNB_ENST00000496972.2_Missense_Mutation_p.A528P|DTNB_ENST00000405222.1_Intron|DTNB_ENST00000404103.3_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.A592P|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000288642.8_Intron|DTNB_ENST00000407186.1_Missense_Mutation_p.A555P NM_001256303.1|NM_021907.4 NP_001243232.1|NP_068707.1 O60941 DTNB_HUMAN dystrobrevin, beta 592 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGGAGTCAGCTGCCACCAGC 0.607000 25 35 0 0 0.006320 0 0 ZWILCH 55055 broad.mit.edu 37 15 66821249 66821249 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:66821249G>A ENST00000307897.5 + 11 1409 c.1029G>A c.(1027-1029)cgG>cgA p.R343R ZWILCH_ENST00000535141.2_Silent_p.R229R|ZWILCH_ENST00000446801.2_Silent_p.R229R|ZWILCH_ENST00000565627.1_Silent_p.R229R NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 343 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 TCAAAGTTCGGAGTGATCTTG 0.378000 7 62 0 0 0.003080 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74664010 74664010 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:74664010C>A ENST00000370895.1 + 1 83 c.48C>A c.(46-48)acC>acA p.T16T FPGT_ENST00000534056.1_Silent_p.T16T|FPGT-TNNI3K_ENST00000557284.1_Silent_p.T16T|FPGT-TNNI3K_ENST00000370899.3_Silent_p.T16T|FPGT_ENST00000524915.1_Silent_p.T16T|TNNI3K_ENST00000370893.1_Silent_p.T16T|FPGT_ENST00000467578.2_Silent_p.T16T|FPGT_ENST00000370898.2_Silent_p.T16T|FPGT_ENST00000482102.2_Silent_p.T16T|TNNI3K_ENST00000370891.2_Silent_p.T16T|FPGT_ENST00000370894.4_Silent_p.T16T Q59H18 TNI3K_HUMAN 0 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GAGAAGCCACCCAGCGAAAAT 0.622000 7 31 0.00307968 0.00319931 0.003080 1 0 HOXA4 3201 broad.mit.edu 37 7 27168988 27168988 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:27168988G>T ENST00000360046.5 - 2 884 c.819C>A c.(817-819)gaC>gaA p.D273E HOXA4_ENST00000428284.2_Missense_Mutation_p.D273E|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 273 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 GCAGTTTGTGGTCTTTCTTCC 0.597000 44 86 1.00001e-27 1.53609e-27 0.009718 1 0 EML5 161436 broad.mit.edu 37 14 89163230 89163230 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:89163230C>A ENST00000554922.1 - 15 2553 c.2305G>T c.(2305-2307)Ggc>Tgc p.G769C EML5_ENST00000352093.5_Missense_Mutation_p.G769C|EML5_ENST00000380664.5_Missense_Mutation_p.G769C NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 769 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TGGTGGTGGCCCTTTAATATG 0.368000 15 19 1.15088e-07 1.30901e-07 0.004007 1 0 FAT3 120114 broad.mit.edu 37 11 92543064 92543064 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:92543064G>A ENST00000298047.6 + 12 9320 c.9303G>A c.(9301-9303)ctG>ctA p.L3101L FAT3_ENST00000525166.1_Silent_p.L2951L|FAT3_ENST00000409404.2_Silent_p.L3101L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3101 Cadherin 28. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTACAGCCTGATGGCCAAGG 0.507000 TCGA Ovarian(4;0.039) 36 39 0 0 0.006999 0 0 FGD4 121512 broad.mit.edu 37 12 32735366 32735366 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:32735366G>T ENST00000427716.2 + 4 989 c.565G>T c.(565-567)Gaa>Taa p.E189* FGD4_ENST00000534526.2_Nonsense_Mutation_p.E326*|FGD4_ENST00000472289.1_Nonsense_Mutation_p.E189*|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Nonsense_Mutation_p.E96*|FGD4_ENST00000531134.1_Nonsense_Mutation_p.E274*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.E301* NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 189 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AAGCCCTCTGGAACTGGAGCA 0.512000 19 26 1.01871e-10 1.23119e-10 0.008871 1 0 IL20 50604 broad.mit.edu 37 1 207041895 207041895 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:207041895G>T ENST00000367098.1 + 6 880 c.517G>T c.(517-519)Gag>Tag p.E173* IL20_ENST00000391930.2_Nonsense_Mutation_p.E148*|IL20_ENST00000367096.3_Nonsense_Mutation_p.E173* Q9NYY1 IL20_HUMAN interleukin 20 173 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) GCAATGGATGGAGGAGACAGA 0.488000 11 16 0.00010058 0.000106937 0.013537 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906085 164906085 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:164906085C>T ENST00000475390.1 - 2 2977 c.2534G>A c.(2533-2535)gGg>gAg p.G845E SLITRK3_ENST00000241274.3_Missense_Mutation_p.G845E O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 845 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TCCTGAAACCCCACCAACTGC 0.572000 HNSCC(40;0.11) 68 98 0 0 0.014410 0 0 OR52I2 143502 broad.mit.edu 37 11 4608444 4608444 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:4608444C>A ENST00000312614.4 + 1 424 c.402C>A c.(400-402)gtC>gtA p.V134V NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTTTTTTGTCCACTTAGCCA 0.502000 38 31 1.56738e-10 1.88555e-10 0.019004 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86541497 86541497 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:86541497T>C ENST00000450689.2 - 15 2245 c.2060A>G c.(2059-2061)tAt>tGt p.Y687C KIAA1324L_ENST00000416314.1_Missense_Mutation_p.Y520C|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.Y447C NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 687 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GCTAAAGTCATAGTGCAAACT 0.368000 10 65 0 0 0.003163 0 0 XKR7 343702 broad.mit.edu 37 20 30584330 30584330 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:30584330C>G ENST00000217299.3 + 3 984 c.810C>G c.(808-810)ctC>ctG p.L270L NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 270 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCGCCTCCCTCGTGTCTCTGG 0.711000 9 20 0 0 0.004482 0 0 CDYL 9425 broad.mit.edu 37 6 4892436 4892436 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:4892436G>T ENST00000328908.5 + 4 807 c.676G>T c.(676-678)Ggt>Tgt p.G226C CDYL_ENST00000343762.5_Missense_Mutation_p.G40C|CDYL_ENST00000449732.2_Missense_Mutation_p.G40C|CDYL_ENST00000397588.3_Missense_Mutation_p.G172C|CDYL_ENST00000472453.1_Intron Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 226 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CGTCGAGCAGGGTCAGGAGGA 0.627000 37 8 2.19358e-23 3.25449e-23 0.005524 1 0 PPP1R12B 4660 broad.mit.edu 37 1 202538290 202538290 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:202538290G>T ENST00000406302.3 + 23 2980 c.2827G>T c.(2827-2829)Gag>Tag p.E943* PPP1R12B_ENST00000336894.4_Nonsense_Mutation_p.E943*|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Nonsense_Mutation_p.E169*|PPP1R12B_ENST00000367270.4_Nonsense_Mutation_p.E169* NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 943 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GCGAGCCTTGGAGCGCAAAAT 0.428000 12 65 1.3612e-06 1.52169e-06 0.003163 1 0 OR5J2 282775 broad.mit.edu 37 11 55944522 55944522 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:55944522G>A ENST00000312298.1 + 1 429 c.429G>A c.(427-429)gaG>gaA p.E143E NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) AGTGTGTGGAGCTTGTCACAG 0.458000 47 56 0 0 0.013114 0 0 RPP30 10556 broad.mit.edu 37 10 92660420 92660420 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:92660420C>T ENST00000413330.1 + 11 826 c.791C>T c.(790-792)gCc>gTc p.A264V RPP30_ENST00000371703.3_Missense_Mutation_p.A264V|RPP30_ENST00000489806.1_3'UTR NM_001104546.1 NP_001098016.1 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit 264 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 TCCAAGAAAGCCAAGTGTGAG 0.413000 65 99 0 0 0.014410 0 0 COTL1 23406 broad.mit.edu 37 16 84623841 84623841 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:84623841C>G ENST00000262428.4 - 3 350 c.188G>C c.(187-189)cGc>cCc p.R63P COTL1_ENST00000564057.1_5'UTR NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 63 ADF-H. cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 GGTGGTGAAGCGCACGAAGGC 0.582000 15 62 0 0 0.004007 0 0 SACS 26278 broad.mit.edu 37 13 23907941 23907941 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:23907941G>A ENST00000382298.3 - 10 10662 c.10074C>T c.(10072-10074)ccC>ccT p.P3358P SACS_ENST00000402364.1_Silent_p.P2608P|SACS_ENST00000382292.3_Silent_p.P3358P NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3358 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGATGCTTGTGGGGCTCTCTA 0.368000 17 67 0 0 0.004990 0 0 ATP1A4 480 broad.mit.edu 37 1 160129245 160129245 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:160129245C>A ENST00000368081.4 + 6 1178 c.707C>A c.(706-708)tCc>tAc p.S236Y NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 236 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGAGCCGCTCCCCTGACTTC 0.512000 51 67 3.16986e-14 4.12755e-14 0.014410 1 0 CADPS 8618 broad.mit.edu 37 3 62631519 62631519 + Splice_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:62631519C>A ENST00000383710.4 - 6 1553 c.e6-1 CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000490353.2_Splice_Site|CADPS_ENST00000357948.3_Splice_Site NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TAATTACCACCTGAAAAGAGA 0.453000 40 20 1.04594e-18 1.45649e-18 0.006230 1 0 WDR46 9277 broad.mit.edu 37 6 33255144 33255144 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:33255144G>C ENST00000374617.4 - 8 1223 c.867C>G c.(865-867)ctC>ctG p.L289L NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 289 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CTGTAGCCAGGAGGAAGTGGA 0.572000 42 21 0 0 0.009718 0 0 CR2 1380 broad.mit.edu 37 1 207651356 207651356 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:207651356C>A ENST00000367057.3 + 16 3218 c.3029C>A c.(3028-3030)cCc>cAc p.P1010H CR2_ENST00000458541.2_Missense_Mutation_p.P924H|CR2_ENST00000367059.3_Missense_Mutation_p.P889H|CR2_ENST00000367058.3_Missense_Mutation_p.P951H NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 951 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GAAGGCAGTCCCCAGAGCCAG 0.522000 13 26 0.00010058 0.000106937 0.013537 1 0 PLCE1 51196 broad.mit.edu 37 10 95931022 95931022 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:95931022G>T ENST00000260766.3 + 4 2212 c.1578G>T c.(1576-1578)caG>caT p.Q526H PLCE1_ENST00000371385.3_Missense_Mutation_p.Q218H|PLCE1_ENST00000371380.2_Missense_Mutation_p.Q526H|PLCE1_ENST00000371375.1_Missense_Mutation_p.Q218H NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 526 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TCGATCTGCAGCCTCTCATCC 0.532000 81 86 1.68136e-41 2.74868e-41 0.014410 1 0 MXRA5 25878 broad.mit.edu 37 X 3228906 3228906 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:3228906G>T ENST00000217939.6 - 7 7492 c.7338C>A c.(7336-7338)ccC>ccA p.P2446P NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2446 Ig-like C2-type 9. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGATGGGGTTGGGGTTACCGT 0.587000 18 15 3.32936e-07 3.74598e-07 0.006122 1 0 ZNF347 84671 broad.mit.edu 37 19 53652546 53652546 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:53652546C>A ENST00000452676.2 - 3 516 c.90G>T c.(88-90)agG>agT p.R30S ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R30S|ZNF347_ENST00000334197.7_Missense_Mutation_p.R30S NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TGTACAAAGTCCTCTGAGCGG 0.502000 41 169 4.32679e-17 5.83809e-17 0.006999 1 0 BRAP 8315 broad.mit.edu 37 12 112121073 112121073 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:112121073G>C ENST00000419234.4 - 2 314 c.121C>G c.(121-123)Cta>Gta p.L41V BRAP_ENST00000327551.6_Missense_Mutation_p.L11V NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 41 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 GCTGAGGCTAGTGTCGTCTTT 0.428000 68 81 0 0 0.014410 0 0 OR5M11 219487 broad.mit.edu 37 11 56309949 56309949 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:56309949G>A ENST00000528616.2 - 1 808 c.785C>T c.(784-786)cCa>cTa p.P262L NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CTTATCTGTTGGTGGTCTTAT 0.418000 36 58 0 0 0.019004 0 0 GRM5 2915 broad.mit.edu 37 11 88323860 88323860 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:88323860G>T ENST00000418177.2 - 7 1966 c.1599C>A c.(1597-1599)acC>acA p.T533T GRM5_ENST00000455756.2_Silent_p.T533T|GRM5_ENST00000393297.1_Silent_p.T533T|GRM5_ENST00000305447.4_Silent_p.T533T|GRM5_ENST00000305432.5_Silent_p.T533T P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 533 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAGGTGTACAGGTCCAACAAC 0.388000 40 51 1.06522e-23 1.58491e-23 0.013114 1 0 SRGAP2 23380 broad.mit.edu 37 1 206566147 206566147 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:206566147A>G ENST00000414007.1 + 2 168 c.168A>G c.(166-168)gtA>gtG p.V56V SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 196 FCH. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) GTAAATCGGTAAAGCAGGAGG 0.517000 8 36 0 0 0.006214 0 0 HBB 3043 broad.mit.edu 37 11 5246903 5246903 + Silent SNP G G A rs33973589 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:5246903G>A ENST00000335295.3 - 3 544 c.369C>T c.(367-369)ttC>ttT p.F123F NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 123 blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) CTGGTGGGGTGAATTCTTTGC 0.522000 Sickle Cell Trait 48 23 0 0 0.014410 0 0 NUDT12 83594 broad.mit.edu 37 5 102891788 102891788 + Nonsense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:102891788G>A ENST00000230792.2 - 4 904 c.808C>T c.(808-810)Caa>Taa p.Q270* NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Nonsense_Mutation_p.Q252* NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 270 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) GATCTTGCTTGAGCTACAACC 0.323000 9 17 0 0 0.008291 0 0 OR52N5 390075 broad.mit.edu 37 11 5799748 5799748 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:5799748G>A ENST00000317093.2 - 1 149 c.117C>T c.(115-117)ctC>ctT p.L39L TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ACATTGTGCAGAGTGGGAGGG 0.403000 29 71 0 0 0.009535 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399393 89399393 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:89399393C>A ENST00000479981.1 - 0 336 GTTGCAAAATCTTCAGGCTGC 0.498000 72 113 1.13027e-35 1.80808e-35 0.014410 1 0 TECTA 7007 broad.mit.edu 37 11 121023652 121023652 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:121023652G>T ENST00000392793.1 + 13 4439 c.4168G>T c.(4168-4170)Gcc>Tcc p.A1390S TECTA_ENST00000264037.2_Missense_Mutation_p.A1390S O75443 TECTA_HUMAN tectorin alpha 1390 TIL 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCCCGCTGCGCCGCCATCCG 0.612000 28 48 2.68265e-12 3.39152e-12 0.013726 1 0 DCPS 28960 broad.mit.edu 37 11 126201304 126201304 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:126201304A>G ENST00000263579.4 + 3 710 c.381A>G c.(379-381)gtA>gtG p.V127V DCPS_ENST00000530860.1_3'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 127 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) TTGCAGATGTAAAGACGACCG 0.557000 47 183 0 0 0.014410 0 0 BMP7 655 broad.mit.edu 37 20 55758871 55758871 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:55758871G>C ENST00000395863.3 - 4 1370 c.865C>G c.(865-867)Cgc>Ggc p.R289G BMP7_ENST00000450594.2_Missense_Mutation_p.R289G|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 289 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CGGATGCTGCGGAAGTGGACC 0.632000 35 17 0 0 0.017118 0 0 TCL6 27004 broad.mit.edu 37 14 96136811 96136811 + RNA SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:96136811A>T ENST00000467865.1 + 0 1921 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) AGACACATTCACACTGGGCCA 0.448000 T TRA@ T-ALL 13 47 0 0 0.020292 0 0 DNAH9 1770 broad.mit.edu 37 17 11757569 11757569 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:11757569G>T ENST00000262442.3 + 50 9825 c.9757G>T c.(9757-9759)Gag>Tag p.E3253* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E3253* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3253 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E3253Q(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTTCAATCCTGAGTTTGTGGC 0.493000 66 28 2.17656e-39 3.53056e-39 0.014410 1 0 KCNJ10 3766 broad.mit.edu 37 1 160011696 160011696 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:160011696A>T ENST00000368089.3 - 2 853 c.627T>A c.(625-627)atT>atA p.I209I KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 209 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTGGCAGCCAATGAGGAGGC 0.532000 50 44 0 0 0.014410 0 0 EPAS1 2034 broad.mit.edu 37 2 46607448 46607448 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:46607448G>T ENST00000263734.3 + 12 2147 c.1637G>T c.(1636-1638)tGc>tTc p.C546F NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 546 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) AGCCCCATCTGCCCCGAGGAG 0.607000 27 75 2.65835e-16 3.56382e-16 0.007291 1 0 AGO3 192669 broad.mit.edu 37 1 36506023 36506023 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:36506023G>T ENST00000373191.4 + 16 2502 c.2153G>T c.(2152-2154)tGt>tTt p.C718F AGO3_ENST00000246314.6_Missense_Mutation_p.C484F NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 CGATTATTTTGTGCTGATAGG 0.403000 46 73 6.17242e-35 9.82875e-35 0.014410 1 0 OBSCN 84033 broad.mit.edu 37 1 228412281 228412281 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:228412281G>A ENST00000570156.2 + 10 3125 c.3051G>A c.(3049-3051)aaG>aaA p.K1017K OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.K925K|OBSCN_ENST00000422127.1_Silent_p.K925K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1017 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGTGGTACAAGGATGGGAAGA 0.662000 15 45 0 0 0.004007 0 0 MYO9A 4649 broad.mit.edu 37 15 72190535 72190535 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:72190535T>C ENST00000356056.5 - 25 4781 c.4309A>G c.(4309-4311)Aca>Gca p.T1437A MYO9A_ENST00000444904.1_Missense_Mutation_p.T1418A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T1437A|MYO9A_ENST00000564571.1_Missense_Mutation_p.T1437A|MYO9A_ENST00000566885.1_Missense_Mutation_p.T1057A|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1437 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGATACTTGTGTCTAGTTGG 0.398000 17 92 0 0 0.004990 0 0 NEB 4703 broad.mit.edu 37 2 152419190 152419190 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:152419190A>C ENST00000397345.3 - 120 19028 c.18826T>G c.(18826-18828)Tgg>Ggg p.W6276G NEB_ENST00000409198.1_Missense_Mutation_p.W4575G|NEB_ENST00000604864.1_Missense_Mutation_p.W6276G|NEB_ENST00000427231.2_Missense_Mutation_p.W6276G|NEB_ENST00000172853.10_Missense_Mutation_p.W4575G|NEB_ENST00000603639.1_Missense_Mutation_p.W6276G NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6285 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGAGACGTCCACTGGTGGAAA 0.478000 17 10 0 0 0.004007 0 0 OLFM3 118427 broad.mit.edu 37 1 102269862 102269862 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:102269862T>C ENST00000370103.4 - 6 1522 c.1309A>G c.(1309-1311)Aac>Gac p.N437D OLFM3_ENST00000338858.5_Missense_Mutation_p.N457D|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 457 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TGGCCATTGTTCCAGGCATAG 0.413000 38 48 0 0 0.005524 0 0 ROBO2 6092 broad.mit.edu 37 3 77666678 77666678 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:77666678G>T ENST00000461745.1 + 22 4208 c.3308G>T c.(3307-3309)aGc>aTc p.S1103I ROBO2_ENST00000487694.3_Missense_Mutation_p.S1119I|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1103I NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1103 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GACAGTGATAGCTGGTGCCCA 0.408000 34 16 1.30015e-28 2.00304e-28 0.021022 1 0 ACSS2 55902 broad.mit.edu 37 20 33509651 33509651 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:33509651T>A ENST00000360596.2 + 13 1741 c.1530T>A c.(1528-1530)ggT>ggA p.G510G ACSS2_ENST00000336325.4_Silent_p.G460G|ACSS2_ENST00000253382.5_Silent_p.G523G|ACSS2_ENST00000476922.1_Intron NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 510 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGTTGGAAGGTGAAGCTGAAG 0.488000 171 230 0 0 0.014410 0 0 IQUB 154865 broad.mit.edu 37 7 123097558 123097558 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:123097558G>T ENST00000466202.1 - 12 2646 c.2070C>A c.(2068-2070)tgC>tgA p.C690* RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Nonsense_Mutation_p.C690* Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 690 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGAGATTGTCGCAAGCACTGA 0.458000 60 24 2.32817e-41 3.80013e-41 0.014410 1 0 TRPM5 29850 broad.mit.edu 37 11 2434787 2434787 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:2434787A>G ENST00000452833.1 - 13 1936 c.1928T>C c.(1927-1929)aTg>aCg p.M643T TRPM5_ENST00000533060.1_Missense_Mutation_p.M641T|TRPM5_ENST00000155858.6_Missense_Mutation_p.M641T|TRPM5_ENST00000528453.1_Missense_Mutation_p.M641T Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 641 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GCCTGCGGCCATGTCCCCCCA 0.637000 9 8 0 0 0.006214 0 0 MAP3K4 4216 broad.mit.edu 37 6 161502033 161502033 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:161502033A>G ENST00000392142.4 + 6 2366 c.2218A>G c.(2218-2220)Ata>Gta p.I740V MAP3K4_ENST00000366920.2_Missense_Mutation_p.I740V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I740V|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I740V NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 740 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AACTCATTACATACGGGGAGG 0.438000 12 13 0 0 0.016723 0 0 NES 10763 broad.mit.edu 37 1 156642186 156642186 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:156642186C>T ENST00000368223.3 - 4 1926 c.1794G>A c.(1792-1794)aaG>aaA p.K598K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 598 Tail. ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTCCACATCCTTTAATAGCT 0.403000 38 64 0 0 0.019004 0 0 PPIG 9360 broad.mit.edu 37 2 170493567 170493567 + Missense_Mutation SNP G G A rs114420548 by1000genomes TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:170493567G>A ENST00000260970.3 + 14 2019 c.1799G>A c.(1798-1800)aGa>aAa p.R600K PPIG_ENST00000448752.2_Missense_Mutation_p.R600K|PPIG_ENST00000409714.3_Missense_Mutation_p.R585K NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 600 Arg/Ser-rich (RS domain). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) GAATACAGGAGAAGAGGACGG 0.493000 21 16 0 0 0.008871 0 0 SPTBN5 51332 broad.mit.edu 37 15 42166127 42166127 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:42166127C>A ENST00000320955.6 - 25 5033 c.4806G>T c.(4804-4806)caG>caT p.Q1602H NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1602 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin p.Q1602H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTTCCAGCTCCTGGCACTGCT 0.637000 10 45 2.17888e-05 2.36973e-05 0.006214 1 0 GRM7 2917 broad.mit.edu 37 3 7494450 7494450 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:7494450G>C ENST00000486284.1 + 6 1605 c.1331G>C c.(1330-1332)gGa>gCa p.G444A GRM7_ENST00000389336.4_Missense_Mutation_p.G444A|GRM7_ENST00000402647.2_Missense_Mutation_p.G444A|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.G444A|GRM7_ENST00000403881.1_Missense_Mutation_p.G444A NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 444 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) GAGCAAGCTGGAGGCAAGAAG 0.463000 21 4 0 0 0.014323 0 0 INPP5D 3635 broad.mit.edu 37 2 234072549 234072549 + Splice_Site SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:234072549A>C ENST00000359570.5 + 14 1401 c.1401_splice c.e14+1 p.T467_splice INPP5D_ENST00000538935.1_Splice_Site_p.T466_splice|INPP5D_ENST00000450745.1_Splice_Site_p.T231_splice|INPP5D_ENST00000455936.2_Splice_Site_p.T231_splice Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 479 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CTTTTAAAACAGTGAGCAGCT 0.557000 17 19 0 0 0.004007 0 0 NMUR2 56923 broad.mit.edu 37 5 151772002 151772002 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:151772002C>A ENST00000255262.3 - 4 1163 c.998G>T c.(997-999)cGc>cTc p.R333L NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 333 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) TGCCTGGAAGCGGCGAGACAG 0.502000 59 19 1.22119e-34 1.93866e-34 0.014410 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618170 77618170 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:77618170C>A ENST00000521891.2 + 2 2295 c.1847C>A c.(1846-1848)cCa>cAa p.P616Q ZFHX4_ENST00000050961.6_Missense_Mutation_p.P616Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P616Q|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P616Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 616 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATCGAGTGTCCAAAGTGCGAC 0.547000 HNSCC(33;0.089) 34 9 1.03484e-13 1.33581e-13 0.005524 1 0 C10orf71 118461 broad.mit.edu 37 10 50532601 50532601 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:50532601G>T ENST00000374144.3 + 3 2299 c.2011G>T c.(2011-2013)Ggg>Tgg p.G671W C10orf71_ENST00000323868.4_Missense_Mutation_p.G671W Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 671 endometrium(1) 1 GCTAGAGAATGGGCTCTCCAG 0.542000 19 31 1.78486e-19 2.53972e-19 0.007413 1 0 CLEC16A 23274 broad.mit.edu 37 16 11133682 11133682 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:11133682C>T ENST00000409790.1 + 14 1839 c.1609C>T c.(1609-1611)Cac>Tac p.H537Y CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.H519Y NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 537 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CACCTACAACCACCCGCTAGC 0.547000 3 8 0 0 0.004672 0 0 NRROS 375387 broad.mit.edu 37 3 196387121 196387121 + Missense_Mutation SNP G G T rs111822102 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:196387121G>T ENST00000328557.4 + 3 810 c.607G>T c.(607-609)Ggc>Tgc p.G203C NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CGCTTTCGACGGCCTGGCTGA 0.632000 25 29 7.92952e-12 9.86932e-12 0.021523 1 0 F8 2157 broad.mit.edu 37 X 154194882 154194882 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:154194882C>G ENST00000360256.4 - 8 1290 c.1090G>C c.(1090-1092)Gac>Cac p.D364H NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 364 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCATCATAGTCTTCCGCTTCT 0.418000 47 61 0 0 0.014410 0 0 SPOCK1 6695 broad.mit.edu 37 5 136448183 136448183 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:136448183A>C ENST00000394945.1 - 5 584 c.415T>G c.(415-417)Tgt>Ggt p.C139G SPOCK1_ENST00000282223.7_Missense_Mutation_p.C139G NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 139 Kazal-like. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCACGGGACAGGGCTTGCAC 0.458000 30 17 0 0 0.006320 0 0 MYH11 4629 broad.mit.edu 37 16 15811107 15811107 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:15811107C>G ENST00000338282.6 - 38 5500 c.5394G>C c.(5392-5394)cgG>cgC p.R1798R NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Silent_p.R1805R|MYH11_ENST00000396324.3_Silent_p.R1805R|MYH11_ENST00000300036.5_Silent_p.R1798R|MYH11_ENST00000576790.1_Silent_p.R1798R NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1798 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GGAGCTTGCTCCGGAGCTCCT 0.642000 T CBFB AML 36 54 0 0 0.019004 0 0 ITPR3 3710 broad.mit.edu 37 6 33653453 33653453 + Nonsense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:33653453C>G ENST00000374316.5 + 42 6576 c.5516C>G c.(5515-5517)tCa>tGa p.S1839* ITPR3_ENST00000605930.1_Nonsense_Mutation_p.S1839* Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1839 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CCTGGCTCCTCATCCCGCTAC 0.672000 17 53 0 0 0.007413 0 0 GTPBP10 85865 broad.mit.edu 37 7 90012371 90012371 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:90012371G>A ENST00000222511.6 + 9 945 c.879G>A c.(877-879)atG>atA p.M293I GTPBP10_ENST00000257659.8_Missense_Mutation_p.M214I NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 293 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10 ATGAATTGATGAGCCAGCTCC 0.343000 17 31 0 0 0.008871 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812477 140812477 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:140812477G>T ENST00000252085.3 + 1 2293 c.2151G>T c.(2149-2151)cgG>cgT p.R717R PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGGCTGCGGCGCTGGCACA 0.657000 4 88 0.00909568 0.00931905 0.009096 1 0 SLITRK5 26050 broad.mit.edu 37 13 88329343 88329343 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:88329343G>C ENST00000325089.6 + 2 1919 c.1700G>C c.(1699-1701)tGt>tCt p.C567S SLITRK5_ENST00000400028.3_Missense_Mutation_p.C326S NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 567 LRRCT 2. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCTTGGGATTGTACCTGTGAC 0.517000 81 106 0 0 0.014410 0 0 VEGFC 7424 broad.mit.edu 37 4 177605168 177605168 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:177605168C>A ENST00000280193.2 - 7 1587 c.1172G>T c.(1171-1173)cGc>cTc p.R391L RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 391 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AGCCTTCTGGCGGTTCGTACA 0.418000 30 26 2.61193e-14 3.40531e-14 0.009535 1 0 POMK 84197 broad.mit.edu 37 8 42977826 42977826 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:42977826G>C ENST00000331373.5 + 5 1114 c.859G>C c.(859-861)Gac>Cac p.D287H NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 287 Protein kinase. integral to membrane ATP binding|protein kinase activity GAAGATCCCAGACATCTCCAG 0.488000 23 65 0 0 0.016522 0 0 MYT1L 23040 broad.mit.edu 37 2 1893245 1893245 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:1893245G>T ENST00000399161.2 - 16 3035 c.2288C>A c.(2287-2289)cCt>cAt p.P763H MYT1L_ENST00000428368.2_Missense_Mutation_p.P761H NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 763 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTCCATGTCAGGGTTCTGTCG 0.592000 8 33 0.000442599 0.000466294 0.006214 1 0 MYO1A 4640 broad.mit.edu 37 12 57422608 57422608 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:57422608T>A ENST00000442789.2 - 29 3350 c.3063A>T c.(3061-3063)gcA>gcT p.A1021A TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.A859A|MYO1A_ENST00000300119.3_Silent_p.A1021A NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1021 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TGTCACCACCTGCAGGGCCCT 0.547000 38 55 0 0 0.005524 0 0 CLCNKA 1187 broad.mit.edu 37 1 16356276 16356276 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:16356276C>A ENST00000375692.1 + 14 1406 c.1278C>A c.(1276-1278)ttC>ttA p.F426L CLCNKA_ENST00000331433.4_Missense_Mutation_p.F426L|CLCNKA_ENST00000420078.1_Missense_Mutation_p.F426L|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.F383L P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 426 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCGGGTACTTCATGCCCATCT 0.602000 91 94 3.78979e-47 6.24447e-47 0.014410 1 0 LSS 4047 broad.mit.edu 37 21 47633658 47633658 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:47633658T>C ENST00000397728.3 - 10 1181 c.1103A>G c.(1102-1104)tAt>tGt p.Y368C LSS_ENST00000457828.2_Missense_Mutation_p.Y288C|LSS_ENST00000356396.4_Missense_Mutation_p.Y368C|LSS_ENST00000522411.1_Missense_Mutation_p.Y357C NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 368 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) TCACCAGAGATAGTCCGGGAT 0.612000 5 15 0 0 0.014758 0 0 CABS1 85438 broad.mit.edu 37 4 71201058 71201058 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:71201058G>C ENST00000273936.4 + 1 361 c.302G>C c.(301-303)gGc>gCc p.G101A NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 101 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCTCTGACTGGCACTACAAAC 0.363000 34 35 0 0 0.021022 0 0 FAM186B 84070 broad.mit.edu 37 12 49994812 49994812 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:49994812G>C ENST00000544141.1 - 4 940 c.341C>G c.(340-342)aCc>aGc p.T114S FAM186B_ENST00000551047.1_Missense_Mutation_p.T204S|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Missense_Mutation_p.T204S Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 204 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CGTGTTCATGGTATGCTGGTC 0.587000 29 51 0 0 0.009535 0 0 PCDH7 5099 broad.mit.edu 37 4 30724316 30724316 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:30724316C>A ENST00000361762.2 + 1 2280 c.1272C>A c.(1270-1272)ccC>ccA p.P424P PCDH7_ENST00000543491.1_Silent_p.P424P NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 424 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GGCGCATCCCCCTCAAGGACG 0.627000 4 34 0.00909568 0.00931905 0.009096 1 0 MMP21 118856 broad.mit.edu 37 10 127462433 127462433 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:127462433C>A ENST00000368808.3 - 2 663 c.664G>T c.(664-666)Gcc>Tcc p.A222S NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 222 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TCGACCGCGGCCCCGGGGGCG 0.726000 27 30 4.59853e-10 5.5003e-10 0.005443 1 0 POLE 5426 broad.mit.edu 37 12 133219893 133219893 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:133219893A>G ENST00000320574.5 - 35 4511 c.4468T>C c.(4468-4470)Tac>Cac p.Y1490H POLE_ENST00000535270.1_Missense_Mutation_p.Y1463H NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1490 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GCGTGGTGGTACAGGTAGATA 0.602000 DNA polymerases (catalytic subunits) 43 42 0 0 0.013114 0 0 PON1 5444 broad.mit.edu 37 7 94928339 94928339 + Nonsense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:94928339G>A ENST00000222381.3 - 9 1216 c.985C>T c.(985-987)Caa>Taa p.Q329* PON1_ENST00000542556.1_Nonsense_Mutation_p.Q329* NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 329 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GTACTGCCTTGCAACACTGTG 0.438000 55 26 0 0 0.014410 0 0 MORF4L1 10933 broad.mit.edu 37 15 79186433 79186433 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:79186433A>G ENST00000331268.5 + 11 984 c.780A>G c.(778-780)atA>atG p.I260M MORF4L1_ENST00000559345.1_Missense_Mutation_p.I133M|MORF4L1_ENST00000558502.1_Missense_Mutation_p.I133M|MORF4L1_ENST00000558746.1_Missense_Mutation_p.I194M|MORF4L1_ENST00000426013.2_Missense_Mutation_p.I221M|MORF4L1_ENST00000379535.4_Missense_Mutation_p.I246M|MORF4L1_ENST00000561171.1_Intron NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 260 Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 TGGCAGGGATAAAAGAATACT 0.368000 73 118 0 0 0.014410 0 0 LOC344967 344967 broad.mit.edu 37 4 40045152 40045152 + RNA SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:40045152A>G ENST00000381811.2 - 0 997 NR_027277.1 TCACCCCTTCATGCACGAAGC 0.582000 8 21 0 0 0.003080 0 0 S100A7 6278 broad.mit.edu 37 1 153430358 153430358 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:153430358G>C ENST00000368723.3 - 3 340 c.230C>G c.(229-231)tCc>tGc p.S77C S100A7_ENST00000368722.1_Missense_Mutation_p.S77C NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 77 EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCCCAGCAAGGACAGAAACTC 0.512000 30 67 0 0 0.006320 0 0 TNC 3371 broad.mit.edu 37 9 117826935 117826935 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:117826935C>A ENST00000350763.4 - 11 3889 c.3478G>T c.(3478-3480)Gcc>Tcc p.A1160S TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.A1160S|TNC_ENST00000423613.2_Missense_Mutation_p.A1160S NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1160 Fibronectin type-III 6. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CCTGTGGAGGCCTCAGCAGAG 0.493000 134 66 1.41179e-77 2.34848e-77 0.014410 1 0 NLRP1 22861 broad.mit.edu 37 17 5487227 5487227 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:5487227C>T ENST00000345221.3 - 1 605 c.51G>A c.(49-51)aaG>aaA p.K17K NLRP1_ENST00000577119.1_Silent_p.K17K|NLRP1_ENST00000269280.4_Silent_p.K17K|NLRP1_ENST00000572272.1_Silent_p.K17K|NLRP1_ENST00000262467.5_Silent_p.K17K|NLRP1_ENST00000354411.3_Silent_p.K17K|NLRP1_ENST00000571307.1_5'UTR NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 17 DAPIN. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCTCCTCCTTCTTCAGGAACT 0.602000 5 1 0 0 0.014758 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40226472 40226472 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:40226472G>T ENST00000263791.5 + 1 119 c.76G>T c.(76-78)Gag>Tag p.E26* EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.E26*|EIF2AK4_ENST00000560648.1_Nonsense_Mutation_p.E26*|EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.E26* NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 26 RWD. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ACAGGACCACGAGCTACAGGC 0.731000 4 15 0.00909568 0.00931905 0.009096 1 0 SLC35F1 222553 broad.mit.edu 37 6 118635284 118635284 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:118635284G>C ENST00000360388.4 + 8 1297 c.1096G>C c.(1096-1098)Gtg>Ctg p.V366L NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 366 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GGACCCCCGAGTGTATAAGCA 0.532000 58 75 0 0 0.014410 0 0 ERAS 3266 broad.mit.edu 37 X 48687842 48687842 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:48687842G>A ENST00000338270.1 + 1 560 c.309G>A c.(307-309)agG>agA p.R103R NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 103 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 CCATCCATAGGGCCCTGCGTG 0.597000 39 21 0 0 0.011902 0 0 TIMM8B 26521 broad.mit.edu 37 11 111957432 111957432 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:111957432C>T ENST00000504148.2 - 1 87 c.16G>A c.(16-18)Gaa>Aaa p.E6K TIMM8B_ENST00000507614.1_5'UTR|TIMM8B_ENST00000541231.1_Missense_Mutation_p.E21K NM_012459.2 NP_036591.2 Q9Y5J9 TIM8B_HUMAN translocase of inner mitochondrial membrane 8 homolog B (yeast) 6 protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex protein binding|zinc ion binding large_intestine(1) 1 all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) TCATCGGCTTCGCCCAGCTCC 0.652000 OREG0021332 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 10 0 0 0.004672 0 0 OR52A5 390054 broad.mit.edu 37 11 5153664 5153664 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:5153664G>C ENST00000307388.1 - 1 208 c.209C>G c.(208-210)gCc>gGc p.A70G NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A70D(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AATGTCTGTGGCTGCCAACAT 0.363000 27 22 0 0 0.007291 0 0 FAM189A2 9413 broad.mit.edu 37 9 72006543 72006543 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:72006543A>T ENST00000257515.8 + 11 1596 c.1176A>T c.(1174-1176)acA>acT p.T392T FAM189A2_ENST00000455972.1_Silent_p.T392T|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Silent_p.T227T|FAM189A2_ENST00000377216.3_Silent_p.T179T NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 392 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 AGCCCAGCACATCCAGGGCCC 0.607000 35 17 0 0 0.021022 0 0 FAM19A2 338811 broad.mit.edu 37 12 62104184 62104184 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:62104184G>T ENST00000551449.1 - 3 299 c.121C>A c.(121-123)Cag>Aag p.Q41K FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 0 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) GATTTCTCCTGGGTTAATGGG 0.333000 65 111 7.33394e-39 1.1841e-38 0.014410 1 0 RP11-44F14.1 0 broad.mit.edu 37 16 53404791 53404791 + RNA SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:53404791G>A ENST00000565421.1 - 0 250 CCAATTTGCTGATATCAAAGT 0.413000 17 25 0 0 0.004990 0 0 GLRA3 8001 broad.mit.edu 37 4 175636719 175636719 + Nonsense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:175636719A>T ENST00000274093.3 - 5 996 c.494T>A c.(493-495)tTa>tAa p.L165* GLRA3_ENST00000340217.5_Nonsense_Mutation_p.L165* NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 165 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TGTTAATGTTAATCTGAAAGT 0.313000 29 11 0 0 0.009535 0 0 PHF3 23469 broad.mit.edu 37 6 64408185 64408185 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:64408185C>T ENST00000262043.3 + 7 3093 c.2753C>T c.(2752-2754)tCt>tTt p.S918F PHF3_ENST00000393387.1_Missense_Mutation_p.S918F Q92576 PHF3_HUMAN PHD finger protein 3 918 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCTGCTGCTTCTGCTTCCAAG 0.343000 45 77 0 0 0.014410 0 0 FCGR2B 2213 broad.mit.edu 37 1 161641217 161641217 + Missense_Mutation SNP C C A rs10917661 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:161641217C>A ENST00000367962.4 + 3 296 c.169C>A c.(169-171)Cag>Aag p.Q57K FCGR2B_ENST00000236937.9_Missense_Mutation_p.Q57K|FCGR2B_ENST00000358671.5_Missense_Mutation_p.Q57K|FCGR2B_ENST00000367961.4_Missense_Mutation_p.Q50K|FCGR2B_ENST00000428605.2_Missense_Mutation_p.Q57K|FCGR2B_ENST00000403078.3_Missense_Mutation_p.Q57K|FCGR2B_ENST00000367960.5_Missense_Mutation_p.Q50K P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 57 Ig-like C2-type 1. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACTCGAGCCCCAGTGGATCAA 0.577000 T ? ALL 17 62 1.99824e-07 2.26293e-07 0.004990 1 0 MRFAP1 93621 broad.mit.edu 37 4 6642817 6642817 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:6642817G>C ENST00000320912.4 + 2 881 c.228G>C c.(226-228)gaG>gaC p.E76D MRFAP1_ENST00000382581.4_Missense_Mutation_p.E76D|MRFAP1_ENST00000507420.1_Missense_Mutation_p.E76D NM_001272053.1 NP_001258982.1 Q9Y605 MOFA1_HUMAN Morf4 family associated protein 1 76 nucleus|perinuclear region of cytoplasm protein binding lung(1) 1 CCTCGGAGGAGAGCGCCCTCA 0.662000 28 69 0 0 0.006320 0 0 MS4A15 219995 broad.mit.edu 37 11 60541372 60541372 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:60541372G>T ENST00000405633.3 + 6 640 c.561G>T c.(559-561)gcG>gcT p.A187A MS4A15_ENST00000528170.1_Silent_p.A146A|MS4A15_ENST00000337911.4_Silent_p.A94A NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 187 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 TCTTCACAGCGGTCATTGCCA 0.587000 28 90 1.17739e-12 1.49759e-12 0.005443 1 0 RABEP2 79874 broad.mit.edu 37 16 28935892 28935892 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:28935892C>T ENST00000358201.4 - 2 694 c.106G>A c.(106-108)Gag>Aag p.E36K RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000357573.6_Missense_Mutation_p.E36K NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 36 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 TCACCTGACTCGGCCTCACCA 0.637000 22 35 0 0 0.014323 0 0 CASP4 837 broad.mit.edu 37 11 104817917 104817917 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:104817917T>A ENST00000444739.2 - 7 1838 c.928A>T c.(928-930)Aac>Tac p.N310Y CASP4_ENST00000393150.3_Missense_Mutation_p.N254Y NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 310 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) CAGGACACGTTGTCTATAATG 0.383000 43 63 0 0 0.008740 0 0 POMP 51371 broad.mit.edu 37 13 29236608 29236608 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:29236608G>T ENST00000380842.4 + 2 146 c.65G>T c.(64-66)aGt>aTt p.S22I POMP_ENST00000460403.1_3'UTR NM_015932.5 NP_057016.1 Q9Y244 POMP_HUMAN proteasome maturation protein 22 proteasome assembly cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex endometrium(2)|kidney(1)|large_intestine(1) 4 Lung SC(185;0.0367) all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216) CTTTCAGCAAGTGGACCTTTT 0.328000 31 68 6.97489e-18 9.53448e-18 0.021022 1 0 FRMPD1 22844 broad.mit.edu 37 9 37744574 37744574 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:37744574C>G ENST00000539465.1 + 16 3138 c.2545C>G c.(2545-2547)Cag>Gag p.Q849E FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q849E|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 849 cytoskeleton|cytosol|plasma membrane p.Q849E(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CTACACCTCTCAGGTCTCATT 0.572000 10 56 0 0 0.006214 0 0 C2CD5 9847 broad.mit.edu 37 12 22624344 22624344 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:22624344C>A ENST00000333957.4 - 20 2602 c.2347G>T c.(2347-2349)Gaa>Taa p.E783* C2CD5_ENST00000446597.1_Nonsense_Mutation_p.E783*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.E785*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.E796*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.E783*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.E774*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.E598* NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TGAATTAATTCATCTTCAGGC 0.294000 9 34 6.40141e-05 6.8549e-05 0.010729 1 0 CTNNA2 1496 broad.mit.edu 37 2 80136857 80136857 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:80136857G>T ENST00000466387.1 + 11 1714 c.990G>T c.(988-990)agG>agT p.R330S CTNNA2_ENST00000496558.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R364S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R330S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R330S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R330S P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 330 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.R330S(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GGCGCGAGAGGATCGTGGCGG 0.627000 11 78 2.27111e-07 2.56916e-07 0.013537 1 0 APPL1 26060 broad.mit.edu 37 3 57283510 57283510 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:57283510C>T ENST00000288266.3 + 11 1133 c.986C>T c.(985-987)tCa>tTa p.S329L NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 329 PH.|Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GACAACTGTTCAGTGATGGCT 0.433000 44 25 0 0 0.014410 0 0 ADD3 120 broad.mit.edu 37 10 111876108 111876108 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:111876108C>T ENST00000277900.8 + 4 791 c.426C>T c.(424-426)gcC>gcT p.A142A ADD3_ENST00000360162.3_Silent_p.A142A|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Silent_p.A142A NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 142 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GTAAACTTGCCAGCCTGTACA 0.418000 27 46 0 0 0.007291 0 0 TLR7 51284 broad.mit.edu 37 X 12905137 12905137 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:12905137A>T ENST00000380659.3 + 3 1649 c.1510A>T c.(1510-1512)Agt>Tgt p.S504C NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 504 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AAGTAAAAATAGTATATTTTT 0.373000 72 47 0 0 0.014410 0 0 KCNH8 131096 broad.mit.edu 37 3 19295208 19295208 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:19295208G>A ENST00000328405.2 + 2 405 c.139G>A c.(139-141)Gat>Aat p.D47N NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 47 PAS. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CTACTGTTCCGATGGCTTCTG 0.453000 80 41 0 0 0.014410 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102312430 102312430 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:102312430C>A ENST00000561463.1 + 0 13798 CTGGACCAGCCTGATGATGTC 0.577000 24 30 1.7881e-09 2.11211e-09 0.008361 1 0 NKPD1 284353 broad.mit.edu 37 19 45655642 45655642 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:45655642C>G ENST00000317951.4 - 4 2052 c.2053G>C c.(2053-2055)Gag>Cag p.E685Q NKPD1_ENST00000429338.1_Missense_Mutation_p.E463Q|NKPD1_ENST00000589776.1_Missense_Mutation_p.E463Q|NKPD1_ENST00000438936.2_Missense_Mutation_p.E463Q NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) gcgcggccctcgggcgcgccc 0.726000 3 8 0 0 0.004672 0 0 EFHC2 80258 broad.mit.edu 37 X 44101396 44101396 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:44101396C>T ENST00000420999.1 - 8 1334 c.1251G>A c.(1249-1251)agG>agA p.R417R NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 417 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TCTTGAAGTTCCTCCGATGAG 0.408000 6 2 0 0 0.001168 0 0 EPPK1 83481 broad.mit.edu 37 8 144942702 144942702 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:144942702C>A ENST00000525985.1 - 2 4791 c.4720G>T c.(4720-4722)Gcc>Tcc p.A1574S P58107 EPIPL_HUMAN epiplakin 1 1574 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGGACCCCGGCAATGAAGTTG 0.647000 6 8 0.00116845 0.00121869 0.001168 1 0 PPM1M 132160 broad.mit.edu 37 3 52283052 52283052 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:52283052C>T ENST00000296487.4 + 8 980 c.576C>T c.(574-576)ctC>ctT p.L192L PPM1M_ENST00000457351.2_Silent_p.L353L|PPM1M_ENST00000323588.4_Silent_p.L192L|PPM1M_ENST00000409502.3_Silent_p.L141L Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M 192 PP2C-like. protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding prostate(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) ACATCCAGCTCAAGCCCTTCT 0.592000 6 8 0 0 0.001168 0 0 PCLO 27445 broad.mit.edu 37 7 82784308 82784308 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:82784308G>A ENST00000423517.2 - 2 1986 c.1649C>T c.(1648-1650)tCg>tTg p.S550L PCLO_ENST00000333891.8_Missense_Mutation_p.S550L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 496 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 TTGCTGAGCCGAGGGCTTTGC 0.537000 138 77 0 0 0.014410 0 0 ERBB4 2066 broad.mit.edu 37 2 212543796 212543796 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:212543796A>T ENST00000342788.4 - 13 1913 c.1603T>A c.(1603-1605)Tct>Act p.S535T ERBB4_ENST00000436443.1_Missense_Mutation_p.S535T|ERBB4_ENST00000402597.1_Missense_Mutation_p.S535T NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 535 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGGTTACAAGACTCTATGCAG 0.453000 TSP Lung(8;0.080) 7 11 0 0 0.003080 0 0 CR1L 1379 broad.mit.edu 37 1 207868009 207868009 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:207868009C>A ENST00000508064.2 + 5 835 c.775C>A c.(775-777)Cag>Aag p.Q259K CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 259 Sushi 4. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GTTTAGGTGTCAGCCTGGCTT 0.473000 78 153 2.17451e-35 3.46792e-35 0.014410 1 0 CDH16 1014 broad.mit.edu 37 16 66946294 66946294 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:66946294T>A ENST00000299752.4 - 12 1592 c.1399A>T c.(1399-1401)Act>Tct p.T467S CDH16_ENST00000568632.1_Missense_Mutation_p.T370S|CDH16_ENST00000565796.1_Missense_Mutation_p.T467S|CDH16_ENST00000570262.1_Missense_Mutation_p.T387S|CDH16_ENST00000394055.3_Missense_Mutation_p.T467S NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 467 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCCACCAGAGTCCCGGGCTCC 0.597000 14 58 0 0 0.016723 0 0 RUVBL1 8607 broad.mit.edu 37 3 127842454 127842454 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:127842454C>T ENST00000322623.5 - 1 213 c.114G>A c.(112-114)ggG>ggA p.G38G RUVBL1_ENST00000417360.1_Silent_p.G38G|RUVBL1_ENST00000464873.1_Intron NM_003707.2 NP_003698.1 Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 38 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) GGCCCACAAGCCCTGAGGCCG 0.667000 6 34 0 0 0.001168 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42797513 42797513 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:42797513C>G ENST00000314073.5 + 6 1618 c.1442C>G c.(1441-1443)tCt>tGt p.S481C GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S481C GLTSCR1-like TTTGCTGCCTCTGGAAGTCCA 0.517000 29 140 0 0 0.009535 0 0 IARS2 55699 broad.mit.edu 37 1 220275943 220275943 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:220275943A>G ENST00000366922.1 + 6 971 c.640A>G c.(640-642)Ata>Gta p.I214V IARS2_ENST00000302637.5_Missense_Mutation_p.I286V Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 286 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) GGCATCTCTTATAGGTAAGAT 0.333000 11 39 0 0 0.010729 0 0 BIRC6 57448 broad.mit.edu 37 2 32735027 32735027 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:32735027G>C ENST00000421745.2 + 52 10337 c.10203G>C c.(10201-10203)ctG>ctC p.L3401L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3401 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ACATTCTCCTGAGAAATTGTG 0.403000 18 80 0 0 0.004990 0 0 DHX37 57647 broad.mit.edu 37 12 125455932 125455932 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:125455932C>T ENST00000308736.2 - 8 1205 c.1107G>A c.(1105-1107)gtG>gtA p.V369V DHX37_ENST00000544745.1_Silent_p.V156V NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 369 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CGTCGATGATCACCACCTTGT 0.647000 3 15 0 0 0.004672 0 0 EDAR 10913 broad.mit.edu 37 2 109513387 109513387 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:109513387G>A ENST00000409271.1 - 12 1862 c.1419C>T c.(1417-1419)gcC>gcT p.A473A EDAR_ENST00000376651.1_Silent_p.A473A|EDAR_ENST00000258443.2_Silent_p.A441A Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 441 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GTGGCTGGGAGGCAGGTGGCA 0.592000 9 11 0 0 0.006214 0 0 NIT1 4817 broad.mit.edu 37 1 161089340 161089340 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:161089340G>T ENST00000368008.1 + 4 454 c.395G>T c.(394-396)cGt>cTt p.R132L NIT1_ENST00000368009.2_Missense_Mutation_p.R132L|NIT1_ENST00000392190.5_Missense_Mutation_p.R96L|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368007.4_Missense_Mutation_p.R117L NM_001185092.1 NP_001172021.1 Q86X76 NIT1_HUMAN nitrilase 1 132 CN hydrolase. nitrogen compound metabolic process mitochondrion nitrilase activity NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1) 12 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TTCCATGAGCGTGGCCAAGAC 0.512000 OREG0013937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 35 7.41945e-09 8.61747e-09 0.005443 1 0 NALCN 259232 broad.mit.edu 37 13 101717848 101717848 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:101717848G>T ENST00000251127.6 - 40 4593 c.4512C>A c.(4510-4512)gaC>gaA p.D1504E NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1504 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCTTGTCCAGGTCCACCTCCA 0.572000 35 64 3.86903e-22 5.65182e-22 0.013726 1 0 TRAK1 22906 broad.mit.edu 37 3 42244330 42244330 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:42244330C>G ENST00000449246.1 + 12 1909 c.1608C>G c.(1606-1608)ctC>ctG p.L536L TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000341421.3_Intron NM_001265609.1|NM_001265610.1 NP_001252538.1|NP_001252539.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 0 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CGGGGCACCTCTGTCACGCCT 0.652000 5 2 0 0 0.014758 0 0 ABCA10 10349 broad.mit.edu 37 17 67171589 67171589 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:67171589G>T ENST00000269081.4 - 24 3744 c.2835C>A c.(2833-2835)tgC>tgA p.C945* ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 945 transport integral to membrane ATP binding|ATPase activity p.C945C(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AAGGAGAAACGCAGTTTGTGA 0.368000 12 56 5.50884e-06 6.08012e-06 0.013537 1 0 SMARCA4 6597 broad.mit.edu 37 19 11130300 11130300 + Nonsense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:11130300C>T ENST00000358026.2 + 18 2823 c.2539C>T c.(2539-2541)Cag>Tag p.Q847* SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.Q847*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.Q847* NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 847 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTTTGTCCCCCAGCTCCGGAG 0.587000 """F, N, Mis""" NSCLC 8 3 0 0 0.008291 0 0 CACNA1B 774 broad.mit.edu 37 9 140953611 140953611 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:140953611C>G ENST00000277549.5 + 31 4711 c.2142C>G c.(2140-2142)tgC>tgG p.C714W CACNA1B_ENST00000371355.4_Missense_Mutation_p.C1519W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.C1519W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.C1518W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.C1518W|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C1518W Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1518 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCATGGAATGCGTGCTGAAGA 0.507000 25 6 0 0 0.005443 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720199 13720199 + Splice_Site SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:13720199T>C ENST00000279593.3 - 12 2569 c.e12-2 NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCATCTCCCCTGGggaaagga 0.468000 16 30 0 0 0.004007 0 0 ITGA5 3678 broad.mit.edu 37 12 54797060 54797060 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:54797060T>A ENST00000293379.4 - 18 2086 c.1825A>T c.(1825-1827)Aac>Tac p.N609Y RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 609 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AAGGAGAAGTTGAGAGCGATG 0.567000 104 138 0 0 0.014410 0 0 RAG1 5896 broad.mit.edu 37 11 36597072 36597072 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:36597072G>T ENST00000299440.5 + 2 2330 c.2218G>T c.(2218-2220)Gcc>Tcc p.A740S NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 740 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CCGTCTGGAAGCCTCTCAAAA 0.507000 Familial Hemophagocytic Lymphohistiocytosis 51 25 2.81731e-22 4.12704e-22 0.014410 1 0 TRAK2 66008 broad.mit.edu 37 2 202252561 202252561 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:202252561C>A ENST00000332624.3 - 13 1989 c.1561G>T c.(1561-1563)Gtt>Ttt p.V521F NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 521 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 CAGCCACTAACTCCTTCCTTC 0.517000 37 88 1.30998e-17 1.7837e-17 0.005524 1 0 ZFHX4 79776 broad.mit.edu 37 8 77765551 77765551 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:77765551C>A ENST00000521891.2 + 10 6842 c.6394C>A c.(6394-6396)Cca>Aca p.P2132T ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2087T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2106T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2087T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2087 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTTCAAACGCCCACGGACAAG 0.453000 HNSCC(33;0.089) 8 3 0.00448238 0.00463342 0.004482 1 0 ENPP1 5167 broad.mit.edu 37 6 132189200 132189200 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:132189200C>G ENST00000360971.2 + 12 1227 c.1207C>G c.(1207-1209)Ctg>Gtg p.L403V NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 403 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GGTTGGTATGCTGATGGATGG 0.413000 33 55 0 0 0.013726 0 0 SERPINA1 5265 broad.mit.edu 37 14 94845921 94845921 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:94845921C>A ENST00000448921.1 - 6 1517 c.945G>T c.(943-945)ctG>ctT p.L315L SERPINA1_ENST00000404814.4_Silent_p.L315L|SERPINA1_ENST00000355814.4_Silent_p.L315L|SERPINA1_ENST00000437397.1_Silent_p.L315L|SERPINA1_ENST00000393087.4_Silent_p.L315L|SERPINA1_ENST00000449399.3_Silent_p.L315L|SERPINA1_ENST00000402629.1_Silent_p.L315L|SERPINA1_ENST00000393088.4_Silent_p.L315L|SERPINA1_ENST00000440909.1_Silent_p.L315L NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 315 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) CAGTAATGGACAGTTTGGGTA 0.517000 45 54 1.41504e-22 2.07578e-22 0.011902 1 0 PAH 5053 broad.mit.edu 37 12 103310881 103310881 + Translation_Start_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:103310881C>A ENST00000307000.2 - 0 151 PAH_ENST00000551988.1_5'UTR|PAH_ENST00000553106.1_Missense_Mutation_p.G10C P00439 PH4H_HUMAN phenylalanine hydroxylase catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CTGCCCAAGCCTGGGTTTTCC 0.577000 12 26 4.93089e-13 6.29488e-13 0.020292 1 0 KRT77 374454 broad.mit.edu 37 12 53086622 53086622 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:53086622G>T ENST00000341809.3 - 6 1151 c.1123C>A c.(1123-1125)Ctg>Atg p.L375M RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.L142M NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 375 Coil 2.|Rod. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CTGTTCTTCAGGTCGTCTCCA 0.587000 40 55 2.59497e-14 3.39167e-14 0.007835 1 0 RYR3 6263 broad.mit.edu 37 15 33893753 33893753 + Splice_Site SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:33893753G>T ENST00000389232.4 + 17 1992 c.1922_splice c.e17+1 p.S641_splice RYR3_ENST00000415757.3_Splice_Site_p.S641_splice NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 641 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GATGTAACCAGGTAAGGCCAC 0.517000 5 20 0.000602214 0.000633175 0.014758 1 0 CSMD3 114788 broad.mit.edu 37 8 113421187 113421187 + Nonsense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:113421187G>A ENST00000297405.5 - 33 5714 c.5470C>T c.(5470-5472)Caa>Taa p.Q1824* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1720*|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1784* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1824 CUB 10. 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 AGAGAAGATTGCTGAGTTGGC 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 65 47 0 0 0.014410 0 0 SELE 6401 broad.mit.edu 37 1 169699709 169699709 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:169699709G>T ENST00000333360.7 - 5 718 c.579C>A c.(577-579)tgC>tgA p.C193* SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Nonsense_Mutation_p.C193*|SELE_ENST00000367780.4_Intron|SELE_ENST00000367776.1_Nonsense_Mutation_p.C193*|SELE_ENST00000367774.1_Nonsense_Mutation_p.C193*|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Nonsense_Mutation_p.C193*|SELE_ENST00000367777.1_Nonsense_Mutation_p.C193*|SELE_ENST00000367779.4_Nonsense_Mutation_p.C193* NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 193 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GTGGGTGACTGCAAACCAGGC 0.478000 23 44 7.92952e-12 9.86932e-12 0.021523 1 0 RIMKLA 284716 broad.mit.edu 37 1 42880284 42880284 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:42880284G>T ENST00000431473.3 + 5 944 c.815G>T c.(814-816)tGt>tTt p.C272F NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 272 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TTTGTGGTGTGTGAGGCAAAT 0.483000 139 165 3.68518e-59 6.11073e-59 0.014410 1 0 SALL1 6299 broad.mit.edu 37 16 51173830 51173830 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:51173830C>A ENST00000440970.1 - 2 2443 c.2012G>T c.(2011-2013)tGc>tTc p.C671F SALL1_ENST00000251020.4_Missense_Mutation_p.C768F|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 768 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCAGATGGGGCAGGAATGCTG 0.562000 30 41 1.80694e-10 2.16875e-10 0.009535 1 0 HRNR 388697 broad.mit.edu 37 1 152188472 152188472 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:152188472G>A ENST00000368801.2 - 3 5708 c.5633C>T c.(5632-5634)tCa>tTa p.S1878L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1878 keratinization calcium ion binding|protein binding p.S1878*(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGACTGCCATGAGCTAGACTC 0.557000 152 1651 0 0 0.014410 0 0 RPL23AP7 118433 broad.mit.edu 37 2 114369730 114369730 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:114369730C>A ENST00000416673.2 - 0 426 NR_000029.3 CGTGTGGCTGCGGACACCTTT 0.562000 33 48 9.57592e-29 1.47747e-28 0.014410 1 0 ROBO2 6092 broad.mit.edu 37 3 77693963 77693963 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:77693963T>A ENST00000461745.1 + 25 4943 c.4043T>A c.(4042-4044)gTg>gAg p.V1348E ROBO2_ENST00000487694.3_Missense_Mutation_p.V1364E|ROBO2_ENST00000332191.8_Missense_Mutation_p.V1409E NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1348 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAAACCGAGGTGTTGAGAGCA 0.512000 31 20 0 0 0.012213 0 0 RNF122 79845 broad.mit.edu 37 8 33416288 33416288 + Splice_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:33416288C>A ENST00000256257.1 - 2 428 c.25_splice c.e2-1 p.G9_splice NM_024787.2 NP_079063.2 Q9H9V4 RN122_HUMAN ring finger protein 122 9 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) CACAGAAACACCCTGCAAAGG 0.493000 35 35 6.90743e-12 8.63842e-12 0.017118 1 0 RPUSD4 84881 broad.mit.edu 37 11 126079500 126079500 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:126079500C>A ENST00000298317.4 - 3 526 c.473G>T c.(472-474)gGt>gTt p.G158V RPUSD4_ENST00000533628.1_Missense_Mutation_p.G158V|RPUSD4_ENST00000534393.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 158 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CACCATTACACCTGTGGTTTC 0.517000 112 307 1.39691e-52 2.30899e-52 0.014410 1 0 C1orf226 400793 broad.mit.edu 37 1 162353418 162353418 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:162353418G>T ENST00000458626.2 + 2 936 c.764G>T c.(763-765)cGg>cTg p.R255L C1orf226_ENST00000426197.2_Missense_Mutation_p.R298L NM_001085375.1 NP_001078844.1 A1L170 CA226_HUMAN chromosome 1 open reading frame 226 255 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 CCTCAGGCACGGACCTCCAGC 0.602000 6 11 0.00198382 0.00206499 0.001984 1 0 EPB41L5 57669 broad.mit.edu 37 2 120849190 120849190 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:120849190A>G ENST00000263713.5 + 13 1317 c.1103A>G c.(1102-1104)gAa>gGa p.E368G EPB41L5_ENST00000331393.4_Missense_Mutation_p.E368G|EPB41L5_ENST00000452780.1_Missense_Mutation_p.E368G|EPB41L5_ENST00000443902.2_Missense_Mutation_p.E368G|EPB41L5_ENST00000443124.1_Missense_Mutation_p.E368G NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 368 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 ACATCCTTTGAAAGAAGGCCC 0.363000 50 39 0 0 0.014410 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86541474 86541474 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:86541474C>A ENST00000450689.2 - 15 2268 c.2083G>T c.(2083-2085)Gtg>Ttg p.V695L KIAA1324L_ENST00000416314.1_Missense_Mutation_p.V528L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.V624L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.V455L NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 695 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) AATGAGCCCACACTGCTGAGG 0.408000 10 63 1.5739e-10 1.89121e-10 0.004007 1 0 PRLHR 2834 broad.mit.edu 37 10 120354232 120354232 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:120354232G>T ENST00000239032.2 - 2 663 c.525C>A c.(523-525)ctC>ctA p.L175L PRLHR_ENST00000369169.1_Silent_p.L175L NM_004248.2 NP_004239.1 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 175 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) CGTAGGCGCTGAGGCGCAGCG 0.687000 6 6 0.00116845 0.00121869 0.001168 1 0 DUSP27 92235 broad.mit.edu 37 1 167096795 167096795 + Silent SNP G G T rs142434634 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:167096795G>T ENST00000361200.2 + 6 2593 c.2427G>T c.(2425-2427)gcG>gcT p.A809A DUSP27_ENST00000443333.1_Silent_p.A809A|DUSP27_ENST00000271385.5_Silent_p.A809A|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 809 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GCTCACCCGCGGAAAGTTGCA 0.572000 32 65 2.2171e-23 3.28471e-23 0.009535 1 0 GLG1 2734 broad.mit.edu 37 16 74499596 74499596 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:74499596C>A ENST00000422840.2 - 19 2644 c.2645G>T c.(2644-2646)aGg>aTg p.R882M GLG1_ENST00000205061.5_Missense_Mutation_p.R882M|GLG1_ENST00000447066.2_Missense_Mutation_p.R871M NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 882 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CTTGCAGACCCTCATGAGGGT 0.478000 65 166 1.40369e-38 2.26282e-38 0.014410 1 0 LIG1 3978 broad.mit.edu 37 19 48636252 48636252 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:48636252C>A ENST00000263274.7 - 18 2131 c.1712G>T c.(1711-1713)gGg>gTg p.G571V LIG1_ENST00000427526.2_Missense_Mutation_p.G540V|LIG1_ENST00000536218.1_Missense_Mutation_p.G503V NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 571 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TGCCCTCTGCCCGTCATATTT 0.567000 Nucleotide excision repair (NER) 132 106 4.84192e-58 8.01607e-58 0.014410 1 0 LPA 4018 broad.mit.edu 37 6 161007593 161007593 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:161007593G>A ENST00000447678.1 - 26 4137 c.4017C>T c.(4015-4017)ccC>ccT p.P1339P LPA_ENST00000316300.5_Silent_p.P1339P NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3847 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.P1339P(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATCTGACACTGGGATCCATGG 0.512000 38 50 0 0 0.021022 0 0 UNC5A 90249 broad.mit.edu 37 5 176304927 176304927 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:176304927C>A ENST00000329542.4 + 11 1942 c.1668C>A c.(1666-1668)tcC>tcA p.S556S UNC5A_ENST00000261961.3_Silent_p.S516S NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 556 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCGCCCTCCCACCTCTACT 0.672000 15 7 2.31682e-05 2.50929e-05 0.003163 1 0 TBX22 50945 broad.mit.edu 37 X 79286491 79286491 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:79286491C>T ENST00000442340.1 + 9 1574 c.1084C>T c.(1084-1086)Cca>Tca p.P362S TBX22_ENST00000373296.3_Missense_Mutation_p.P482S|TBX22_ENST00000373291.1_Missense_Mutation_p.P362S|TBX22_ENST00000373294.5_Missense_Mutation_p.P482S NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 482 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 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 TTTCTCTATGCCATCTAGACT 0.393000 35 24 0 0 0.015359 0 0 OR4D5 219875 broad.mit.edu 37 11 123810822 123810822 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:123810822C>T ENST00000307033.2 + 1 573 c.499C>T c.(499-501)Cca>Tca p.P167S NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TATCCAGCTGCCATTCTGTGG 0.478000 45 102 0 0 0.009718 0 0 PCSK5 5125 broad.mit.edu 37 9 78772037 78772037 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:78772037C>A ENST00000545128.1 + 11 1927 c.1389C>A c.(1387-1389)ccC>ccA p.P463P PCSK5_ENST00000376752.4_Silent_p.P463P|PCSK5_ENST00000376767.3_Silent_p.P463P NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 463 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CCACCGTTCCCCGGCAGCACG 0.527000 35 26 6.53348e-20 9.36046e-20 0.017118 1 0 TBX5 6910 broad.mit.edu 37 12 114793871 114793871 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:114793871G>T ENST00000310346.4 - 9 1689 c.1023C>A c.(1021-1023)ccC>ccA p.P341P TBX5_ENST00000349716.5_Silent_p.P291P|TBX5_ENST00000405440.2_Silent_p.P341P NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 341 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCTCCATGTAGGGCTTCTTAT 0.552000 39 67 1.04594e-18 1.45649e-18 0.006230 1 0 GLDC 2731 broad.mit.edu 37 9 6605134 6605134 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:6605134A>T ENST00000321612.6 - 6 1008 c.858T>A c.(856-858)agT>agA p.S286R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 286 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TACCTACCCCACTCTGATGAG 0.493000 51 8 0 0 0.014410 0 0 NAT6 24142 broad.mit.edu 37 3 50334259 50334259 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:50334259G>A ENST00000443842.1 - 2 1443 c.636C>T c.(634-636)ttC>ttT p.F212F HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000417393.1_Silent_p.F212F|NAT6_ENST00000443094.2_Silent_p.F212F|NAT6_ENST00000354862.4_Silent_p.F234F N-acetyltransferase 6 (GCN5-related) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGGCTGTGGGGAAGGCATTAA 0.657000 9 19 0 0 0.006214 0 0 CTAG2 30848 broad.mit.edu 37 X 153880633 153880633 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:153880633C>G ENST00000247306.4 - 2 605 c.542G>C c.(541-543)gGt>gCt p.G181A CTAG2_ENST00000369585.3_Intron NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 181 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) GCCTGGTGTACCAGGTCTCTG 0.602000 59 27 0 0 0.014410 0 0 DDHD1 80821 broad.mit.edu 37 14 53529775 53529775 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:53529775T>A ENST00000357758.3 - 7 1835 c.1652A>T c.(1651-1653)aAt>aTt p.N551I DDHD1_ENST00000323669.5_Missense_Mutation_p.N551I|DDHD1_ENST00000395606.1_Missense_Mutation_p.N558I NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 551 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CCGAACTGGATTCCAGCCAGT 0.408000 91 40 0 0 0.014410 0 0 SLC39A12 221074 broad.mit.edu 37 10 18242408 18242408 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:18242408T>C ENST00000377369.2 + 2 476 c.203T>C c.(202-204)tTg>tCg p.L68S SLC39A12_ENST00000377371.3_Missense_Mutation_p.L68S|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L68S|SLC39A12_ENST00000539911.1_Intron NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 68 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ATCAAAACATTGTTGGAGAAA 0.522000 28 14 0 0 0.007291 0 0 ATAD3B 83858 broad.mit.edu 37 1 1417959 1417959 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:1417959G>T ENST00000308647.7 + 7 831 c.715G>T c.(715-717)Gcc>Tcc p.A239S ATAD3B_ENST00000378741.3_Missense_Mutation_p.A71S|ATAD3B_ENST00000378736.2_3'UTR NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 239 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGGATTCCGTGCCTTTGTGAC 0.582000 60 23 1.34568e-36 2.16262e-36 0.014410 1 0 COL28A1 340267 broad.mit.edu 37 7 7545662 7545662 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:7545662C>T ENST00000399429.3 - 11 1149 c.1009G>A c.(1009-1011)Ggg>Agg p.G337R NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 337 Collagen-like 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCTTGAAACCCCTTTGGGCCT 0.433000 25 54 0 0 0.005443 0 0 COL6A3 1293 broad.mit.edu 37 2 238280467 238280467 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:238280467G>A ENST00000295550.4 - 9 4645 c.4193C>T c.(4192-4194)cCc>cTc p.P1398L COL6A3_ENST00000472056.1_Missense_Mutation_p.P791L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1192L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1192L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1197L|COL6A3_ENST00000392004.3_Missense_Mutation_p.P1192L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1198L|COL6A3_ENST00000392003.2_Missense_Mutation_p.P991L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1398 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCCAGGCTGGGCAGCTCCCG 0.597000 14 46 0 0 0.016723 0 0 RILPL1 353116 broad.mit.edu 37 12 123984071 123984071 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:123984071C>A ENST00000376874.4 - 3 708 c.473G>T c.(472-474)cGg>cTg p.R158L RILPL1_ENST00000340724.6_Missense_Mutation_p.R6L NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 158 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) CTGTCGCTCCCGCTCTGACAT 0.562000 24 18 3.7963e-18 5.23058e-18 0.018920 1 0 OR8I2 120586 broad.mit.edu 37 11 55861085 55861085 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:55861085T>A ENST00000302124.2 + 1 333 c.302T>A c.(301-303)aTg>aAg p.M101K OR8I2_ENST00000560768.1_Missense_Mutation_p.M101K Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TTTGTTCAAATGTACTTTTTT 0.393000 54 124 0 0 0.014410 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328815 88328815 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:88328815T>A ENST00000325089.6 + 2 1391 c.1172T>A c.(1171-1173)gTa>gAa p.V391E SLITRK5_ENST00000400028.3_Missense_Mutation_p.V150E NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 391 LRRNT. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGCCTCAACGTAAACTGCCAG 0.542000 22 25 0 0 0.010504 0 0 ADCY10 55811 broad.mit.edu 37 1 167871020 167871020 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:167871020T>A ENST00000367848.1 - 5 537 c.40A>T c.(40-42)Agg>Tgg p.R14W ADCY10_ENST00000367851.4_Missense_Mutation_p.R106W|ADCY10_ENST00000545172.1_Intron Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 106 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CGCTCCACCCTCCACAGGGCT 0.483000 69 106 0 0 0.014410 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668658 176668658 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:176668658C>A ENST00000367662.3 + 8 4333 c.3169C>A c.(3169-3171)Cgc>Agc p.R1057S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1057 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCAGGTTCTCCGCGATCCCCC 0.552000 68 92 8.13855e-26 1.22844e-25 0.014410 1 0 DDX43 55510 broad.mit.edu 37 6 74124360 74124360 + Missense_Mutation SNP C C T rs142525774 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:74124360C>T ENST00000370336.4 + 14 1854 c.1696C>T c.(1696-1698)Cgg>Tgg p.R566W MB21D1_ENST00000370318.1_Intron NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 566 Helicase C-terminal. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGACTTTCCACGGAATATTGA 0.408000 36 60 0 0 0.021022 0 0 UNC5CL 222643 broad.mit.edu 37 6 40996215 40996215 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:40996215G>A ENST00000244565.3 - 9 1542 c.1454C>T c.(1453-1455)tCc>tTc p.S485F UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.S485F NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 485 Death. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) CTGGATGGCGGAGGCGCAGTC 0.672000 OREG0017423 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 34 0 0 0.019004 0 0 GATA2 2624 broad.mit.edu 37 3 128200003 128200003 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:128200003A>T ENST00000341105.2 - 6 1633 c.1302T>A c.(1300-1302)gcT>gcA p.A434A GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.A434A|GATA2_ENST00000430265.2_Silent_p.A420A NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 434 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) CCATGTGTCCAGCCAGGGCAG 0.622000 Mis AML(CML blast transformation) 22 44 0 0 0.014323 0 0 FBN2 2201 broad.mit.edu 37 5 127644940 127644940 + Splice_Site SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:127644940T>A ENST00000508053.1 - 47 6326 c.5353_splice c.e47+1 p.T1784_splice FBN2_ENST00000262464.4_Splice_Site_p.T1784_splice P35556 FBN2_HUMAN fibrillin 2 1784 TB 7. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGTGCTTACCTGTTCCTGGAG 0.453000 12 26 0 0 0.013537 0 0 CLCA4 22802 broad.mit.edu 37 1 87033122 87033122 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:87033122A>G ENST00000370563.3 + 7 1012 c.970A>G c.(970-972)Aat>Gat p.N324D CLCA4_ENST00000263723.5_Missense_Mutation_p.N37D NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 324 VWFA. apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GGACCGCCTAAATCGAATGAA 0.363000 19 32 0 0 0.010504 0 0 WDPCP 51057 broad.mit.edu 37 2 63631499 63631499 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:63631499T>A ENST00000409120.1 - 4 4093 c.543A>T c.(541-543)ttA>ttT p.L181F WDPCP_ENST00000272321.7_Missense_Mutation_p.L373F|WDPCP_ENST00000409199.1_Missense_Mutation_p.L181F|WDPCP_ENST00000409562.3_Missense_Mutation_p.L373F|WDPCP_ENST00000398544.3_Missense_Mutation_p.L214F|WDPCP_ENST00000409835.1_5'UTR O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 373 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 CAGTCTGTGCTAAGAGAGTCA 0.443000 38 83 0 0 0.005524 0 0 PEAR1 375033 broad.mit.edu 37 1 156883035 156883035 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:156883035C>T ENST00000338302.3 + 20 2697 c.2472C>T c.(2470-2472)acC>acT p.T824T PEAR1_ENST00000292357.7_Silent_p.T824T Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 824 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTACCACACCCTGTCGCAGT 0.607000 18 153 0 0 0.010504 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43769920 43769920 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:43769920G>A ENST00000389420.3 - 35 5251 c.5252C>T c.(5251-5253)cCt>cTt p.P1751L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1751 GON. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATATTCCTTAGGGTTCTCCAA 0.323000 6 9 0 0 0.001168 0 0 DSCAM 1826 broad.mit.edu 37 21 41725575 41725575 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:41725575G>C ENST00000400454.1 - 5 1228 c.751C>G c.(751-753)Cac>Gac p.H251D NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 251 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGCTCAGGGTGCCCGAGCGCT 0.582000 29 19 0 0 0.005443 0 0 NCAPD2 9918 broad.mit.edu 37 12 6604360 6604360 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:6604360G>A ENST00000545962.1 + 2 175 c.20G>A c.(19-21)tGt>tAt p.C7Y NCAPD2_ENST00000315579.5_Silent_p.L32L Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 0 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 AAGAGGTACTGTCCATCAAAC 0.453000 41 34 0 0 0.006230 0 0 GRIK2 2898 broad.mit.edu 37 6 102503233 102503233 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:102503233A>T ENST00000369138.1 + 15 2830 c.2340A>T c.(2338-2340)atA>atT p.I780I GRIK2_ENST00000421544.1_Silent_p.I780I|GRIK2_ENST00000369137.3_Silent_p.I704I|GRIK2_ENST00000318991.6_Silent_p.I780I|GRIK2_ENST00000413795.1_Silent_p.I780I|GRIK2_ENST00000369134.4_Silent_p.I731I NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 780 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AAATTACCATAGCAATTCTTC 0.418000 12 52 0 0 0.013537 0 0 TRIAP1 51499 broad.mit.edu 37 12 120884123 120884123 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:120884123C>G ENST00000546954.1 - 1 92 c.53G>C c.(52-54)tGc>tCc p.C18S AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR NM_016399.2 NP_057483.1 O43715 TRIA1_HUMAN TP53 regulated inhibitor of apoptosis 1 18 anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest mitochondrion|perinuclear region of cytoplasm caspase inhibitor activity|protein binding all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGATTGAAGCACTGGTCGTA 0.612000 23 52 0 0 0.005443 0 0 WASF3 10810 broad.mit.edu 37 13 27241668 27241668 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:27241668A>T ENST00000361042.4 + 5 508 c.283A>T c.(283-285)Atc>Ttc p.I95F WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.I95F Q9UPY6 WASF3_HUMAN WAS protein family, member 3 95 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) ACTACAGGATATCAACATGAA 0.333000 40 58 0 0 0.009718 0 0 WDR19 57728 broad.mit.edu 37 4 39219657 39219657 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:39219657G>A ENST00000399820.3 + 14 1565 c.1411G>A c.(1411-1413)Gca>Aca p.A471T WDR19_ENST00000506503.1_Silent_p.Q469Q|WDR19_ENST00000288634.7_Missense_Mutation_p.A311T NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 471 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GCTTTTCCCAGCAGTGGATGA 0.378000 45 170 0 0 0.011902 0 0 IAH1 285148 broad.mit.edu 37 2 9614744 9614744 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:9614744C>T ENST00000497473.1 + 1 86 c.49C>T c.(49-51)Cgc>Tgc p.R17C IAH1_ENST00000470914.1_5'UTR|IAH1_ENST00000545602.1_5'UTR|IAH1_ENST00000482918.1_Intron NM_001039613.1 NP_001034702.1 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 17 lipid catabolic process hydrolase activity, acting on ester bonds breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GCTCTGGCCTCGCTTGTTGCT 0.781000 8 10 0 0 0.008291 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739235 15739235 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:15739235C>A ENST00000441682.2 + 0 1300 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 ACAGCCGAGTCATCCCCAAAG 0.647000 53 24 9.52127e-25 1.433e-24 0.014410 1 0 UGDH 7358 broad.mit.edu 37 4 39506950 39506950 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:39506950C>T ENST00000316423.6 - 9 1420 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K UGDH_ENST00000507089.1_Missense_Mutation_p.E263K|UGDH_ENST00000506179.1_Missense_Mutation_p.E360K|UGDH_ENST00000501493.2_Missense_Mutation_p.E293K NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 360 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) TGTGCACCTTCATCCATCAAA 0.338000 9 51 0 0 0.004482 0 0 TRAF1 7185 broad.mit.edu 37 9 123671553 123671553 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:123671553C>G ENST00000373887.3 - 7 3432 c.987G>C c.(985-987)atG>atC p.M329I TRAF1_ENST00000546084.1_Missense_Mutation_p.M207I|TRAF1_ENST00000540010.1_Missense_Mutation_p.M329I NM_005658.4 NP_005649.1 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 329 MATH. apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 ACTCCCCTCTCATGATCACGA 0.547000 71 226 0 0 0.014410 0 0 TRPM3 80036 broad.mit.edu 37 9 73235030 73235030 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:73235030C>G ENST00000377110.2 - 15 2298 c.2055G>C c.(2053-2055)atG>atC p.M685I TRPM3_ENST00000396285.1_Missense_Mutation_p.M532I|TRPM3_ENST00000358082.3_Missense_Mutation_p.M547I|TRPM3_ENST00000377106.1_Missense_Mutation_p.M557I|TRPM3_ENST00000357533.2_Missense_Mutation_p.M689I|TRPM3_ENST00000377111.2_Missense_Mutation_p.M685I|TRPM3_ENST00000408909.2_Missense_Mutation_p.M544I|TRPM3_ENST00000360823.2_Missense_Mutation_p.M547I|TRPM3_ENST00000396280.5_Missense_Mutation_p.M534I|TRPM3_ENST00000423814.3_Missense_Mutation_p.M712I|TRPM3_ENST00000396292.4_Missense_Mutation_p.M557I|TRPM3_ENST00000377105.1_Missense_Mutation_p.M544I NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 710 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TGTCGTCAACCATGTCGTTCT 0.602000 19 16 0 0 0.010504 0 0 UNC5A 90249 broad.mit.edu 37 5 176304928 176304928 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:176304928C>A ENST00000329542.4 + 11 1943 c.1669C>A c.(1669-1671)Cac>Aac p.H557N UNC5A_ENST00000261961.3_Missense_Mutation_p.H517N NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 557 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCGCCCTCCCACCTCTACTA 0.672000 15 7 2.31682e-05 2.50929e-05 0.003163 1 0 KIAA1429 25962 broad.mit.edu 37 8 95523654 95523654 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:95523654G>A ENST00000297591.5 - 13 3224 c.3149C>T c.(3148-3150)tCa>tTa p.S1050L KIAA1429_ENST00000437199.1_Missense_Mutation_p.S1050L|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S1050L NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1050 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CAAACGACCTGAGAGGGGGAT 0.393000 8 30 0 0 0.006214 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745615 140745615 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:140745615C>A ENST00000518069.1 + 1 1718 c.1718C>A c.(1717-1719)aCg>aAg p.T573K PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGTTCCACGGGCGTGGAG 0.617000 103 47 3.24833e-45 5.34386e-45 0.014410 1 0 UMODL1 89766 broad.mit.edu 37 21 43510525 43510525 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:43510525G>T ENST00000400427.1 + 6 1088 c.692G>T c.(691-693)cGg>cTg p.R231L UMODL1_ENST00000408910.2_Missense_Mutation_p.R303L|UMODL1_ENST00000408989.2_Missense_Mutation_p.R303L|UMODL1_ENST00000400424.1_Missense_Mutation_p.R231L NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 303 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 ACGTCTCCACGGAAGCTGAAC 0.562000 27 36 1.42536e-11 1.76561e-11 0.004656 1 0 KIF2B 84643 broad.mit.edu 37 17 51902314 51902314 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:51902314G>T ENST00000268919.4 + 1 2076 c.1920G>T c.(1918-1920)cgG>cgT p.R640R NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 640 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCATTGCCCGGTCTTTGTCCA 0.443000 26 20 4.26978e-12 5.37847e-12 0.018920 1 0 DAXX 1616 broad.mit.edu 37 6 33287334 33287334 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:33287334G>T ENST00000374542.5 - 6 1967 c.1763C>A c.(1762-1764)tCt>tAt p.S588Y DAXX_ENST00000414083.2_Missense_Mutation_p.S513Y|DAXX_ENST00000266000.6_Missense_Mutation_p.S588Y NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 588 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.S588F(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 CTTCCTGGAAGAGGAAATGTC 0.522000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 27 88 1.33986e-20 1.93022e-20 0.004656 1 0 ATM 472 broad.mit.edu 37 11 108122644 108122644 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:108122644T>C ENST00000278616.4 + 11 2073 c.1688T>C c.(1687-1689)aTg>aCg p.M563T ATM_ENST00000452508.2_Missense_Mutation_p.M563T NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 563 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAGCAAAATATGTGTGAAGTA 0.368000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 41 63 0 0 0.006230 0 0 NLRP2 55655 broad.mit.edu 37 19 55481502 55481502 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:55481502A>G ENST00000543010.1 + 2 262 c.119A>G c.(118-120)cAg>cGg p.Q40R NLRP2_ENST00000448584.2_Missense_Mutation_p.Q40R|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q40R|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q40R|NLRP2_ENST00000339757.7_Missense_Mutation_p.Q40R|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q40R|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q40R|NLRP2_ENST00000263437.6_Missense_Mutation_p.Q40R NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 40 DAPIN. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACGAGCTCCAGAAGATCCCC 0.552000 18 68 0 0 0.004990 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740202 176740202 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:176740202C>A ENST00000367662.3 + 17 5765 c.4601C>A c.(4600-4602)gCc>gAc p.A1534D NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1534 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATTCTGAATGCCAACTTGCTC 0.517000 39 61 6.97489e-18 9.53448e-18 0.021022 1 0 ABLIM1 3983 broad.mit.edu 37 10 116203885 116203885 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:116203885T>A ENST00000369252.4 - 17 1957 c.1656A>T c.(1654-1656)tcA>tcT p.S552S ABLIM1_ENST00000277895.5_Silent_p.S612S|ABLIM1_ENST00000392952.3_Silent_p.S289S|ABLIM1_ENST00000533213.2_Silent_p.S552S|ABLIM1_ENST00000369266.3_Silent_p.S289S|ABLIM1_ENST00000369253.2_Silent_p.S235S NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 612 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GTCCCAGGCCTGAGTTAAGCT 0.418000 45 61 0 0 0.013114 0 0 BMS1 9790 broad.mit.edu 37 10 43294027 43294027 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:43294027G>T ENST00000374518.4 + 12 2264 c.2201G>T c.(2200-2202)tGc>tTc p.C734F NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 734 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCTTTGGACTGCTCCAGATTT 0.438000 48 79 3.68337e-26 5.60023e-26 0.014410 1 0 SLC12A8 84561 broad.mit.edu 37 3 124909291 124909291 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:124909291C>A ENST00000423114.2 - 3 212 c.213G>T c.(211-213)tgG>tgT p.W71C SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W42C|SLC12A8_ENST00000393469.4_Missense_Mutation_p.W42C A0AV02 S12A8_HUMAN solute carrier family 12, member 8 42 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 ACACACCATCCCAGGTCCCAA 0.577000 80 85 1.58458e-29 2.4594e-29 0.014410 1 0 SLC22A12 116085 broad.mit.edu 37 11 64361120 64361120 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:64361120G>T ENST00000377574.1 + 4 1422 c.675G>T c.(673-675)acG>acT p.T225T SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000336464.7_Silent_p.T191T|SLC22A12_ENST00000473690.1_Silent_p.T4T NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 225 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TGGAGTGGACGGCGGCACGGG 0.652000 18 45 3.32936e-07 3.74598e-07 0.006122 1 0 PKMYT1 9088 broad.mit.edu 37 16 3024317 3024317 + Nonsense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:3024317G>A ENST00000431515.2 - 6 1466 c.1081C>T c.(1081-1083)Cag>Tag p.Q361* PKMYT1_ENST00000440027.2_Nonsense_Mutation_p.Q361*|PKMYT1_ENST00000262300.8_Nonsense_Mutation_p.Q361*|PKMYT1_ENST00000573944.1_Nonsense_Mutation_p.Q352*|PKMYT1_ENST00000574730.1_Nonsense_Mutation_p.Q292*|PKMYT1_ENST00000574385.1_Nonsense_Mutation_p.Q352* Q99640 PMYT1_HUMAN protein kinase, membrane associated tyrosine/threonine 1 361 G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GCCCGCGGCTGCCTCAACACA 0.687000 9 6 0 0 0.006214 0 0 LPHN2 23266 broad.mit.edu 37 1 82409209 82409209 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:82409209C>T ENST00000370728.1 + 8 1599 c.954C>T c.(952-954)tgC>tgT p.C318C LPHN2_ENST00000319517.6_Silent_p.C318C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Silent_p.C318C|LPHN2_ENST00000359929.3_Silent_p.C318C|LPHN2_ENST00000370713.1_Silent_p.C318C|LPHN2_ENST00000370717.2_Silent_p.C318C|LPHN2_ENST00000370730.1_Silent_p.C318C|LPHN2_ENST00000370723.1_Silent_p.C318C|LPHN2_ENST00000271029.4_Silent_p.C318C|LPHN2_ENST00000370725.1_Silent_p.C318C|LPHN2_ENST00000394879.1_Silent_p.C318C|LPHN2_ENST00000370715.1_Silent_p.C318C|LPHN2_ENST00000370721.1_Silent_p.C322C|LPHN2_ENST00000370727.1_Silent_p.C318C O95490 LPHN2_HUMAN latrophilin 2 318 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTATGATATGCGGAGTCCTCT 0.398000 59 48 0 0 0.014410 0 0 PXDN 7837 broad.mit.edu 37 2 1652105 1652105 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:1652105C>A ENST00000252804.4 - 17 3497 c.3447G>T c.(3445-3447)acG>acT p.T1149T NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1149 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.T1149T(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCAGAGCCACCGTGTGTGCCA 0.652000 38 38 1.06647e-15 1.41698e-15 0.017118 1 0 CDH10 1008 broad.mit.edu 37 5 24491783 24491783 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:24491783C>T ENST00000264463.4 - 11 2285 c.1778G>A c.(1777-1779)gGc>gAc p.G593D CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 593 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) TTGCATGTTGCCTTGGCTGTC 0.537000 HNSCC(23;0.051) 38 61 0 0 0.019004 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131801 91131801 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:91131801G>A ENST00000373094.1 + 2 1407 c.562G>A c.(562-564)Gat>Aat p.D188N PCDH11X_ENST00000361724.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D188N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D188N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D188N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D188N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 188 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding p.D188N(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TTTTGGCCTCGATGTCATTGA 0.303000 29 20 0 0 0.009718 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611533 44611533 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:44611533A>G ENST00000273320.3 + 6 1360 c.931A>G c.(931-933)Act>Gct p.T311A ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.T311A|RP11-944L7.4_ENST00000457331.1_RNA NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 GGCAGCAGAGACTGGAGATGT 0.438000 37 73 0 0 0.005524 0 0 UGT1A6 54578 broad.mit.edu 37 2 234601751 234601751 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:234601751A>T ENST00000305139.6 + 1 240 c.101A>T c.(100-102)cAg>cTg p.Q34L UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) GTGGTCCCTCAGGACGGAAGC 0.493000 40 43 0 0 0.021022 0 0 SPRR1B 6699 broad.mit.edu 37 1 153004960 153004960 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:153004960G>C ENST00000307098.4 + 2 204 c.139G>C c.(139-141)Gag>Cag p.E47Q SPRR1B_ENST00000392661.3_Missense_Mutation_p.E47Q NM_003125.2 NP_003116.2 P22528 SPR1B_HUMAN small proline-rich protein 1B 47 6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAAGGTGCCTGAGCCCTGCCA 0.632000 43 99 0 0 0.013114 0 0 FNBP4 23360 broad.mit.edu 37 11 47767896 47767896 + Silent SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:47767896T>C ENST00000263773.5 - 7 969 c.957A>G c.(955-957)aaA>aaG p.K319K FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 319 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CTGCCACCCCTTTCTTCTCCT 0.373000 36 16 0 0 0.005524 0 0 PTPN23 25930 broad.mit.edu 37 3 47449257 47449257 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:47449257C>T ENST00000265562.4 + 13 1151 c.1074C>T c.(1072-1074)gcC>gcT p.A358A PTPN23_ENST00000431726.1_Silent_p.A232A NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 358 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACATCTTTGCCAAACTGGTAC 0.612000 11 58 0 0 0.013537 0 0 LGI1 9211 broad.mit.edu 37 10 95557313 95557313 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:95557313C>G ENST00000371418.4 + 8 1687 c.1427C>G c.(1426-1428)tCc>tGc p.S476C LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.S428C NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 476 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TCGCGAGGATCCATGGTGTTC 0.428000 30 48 0 0 0.006320 0 0 FBN2 2201 broad.mit.edu 37 5 127873104 127873104 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:127873104C>T ENST00000508053.1 - 7 1167 c.193G>A c.(193-195)Gag>Aag p.E65K FBN2_ENST00000262464.4_Missense_Mutation_p.E65K|FBN2_ENST00000508989.1_Missense_Mutation_p.E65K P35556 FBN2_HUMAN fibrillin 2 65 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCACCCTCCTCGCGATACTCG 0.721000 7 9 0 0 0.003080 0 0 FAM120B 84498 broad.mit.edu 37 6 170632311 170632311 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:170632311C>A ENST00000476287.1 + 3 1987 c.1879C>A c.(1879-1881)Cag>Aag p.Q627K FAM120B_ENST00000537664.1_Missense_Mutation_p.Q650K|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.Q639K NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 627 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TCCCATTCGACAGCGGGTCTA 0.493000 10 72 0.000978159 0.00102535 0.010729 1 0 LAMA2 3908 broad.mit.edu 37 6 129618930 129618930 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:129618930G>T ENST00000421865.2 + 21 3006 c.2957G>T c.(2956-2958)tGg>tTg p.W986L NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 986 Laminin EGF-like 10. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGACAATGTTGGTGCCAACCT 0.498000 14 22 2.32078e-09 2.72895e-09 0.003163 1 0 DCLK1 9201 broad.mit.edu 37 13 36367604 36367604 + Missense_Mutation SNP G G A rs146043148 by1000genomes TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:36367604G>A ENST00000255448.4 - 16 2168 c.1957C>T c.(1957-1959)Cca>Tca p.P653S DCLK1_ENST00000379893.1_Missense_Mutation_p.P346S|DCLK1_ENST00000360631.3_Missense_Mutation_p.P653S NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 653 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TCATTTTCTGGGAGGCCATCA 0.408000 42 86 0 0 0.014410 0 0 OTX1 5013 broad.mit.edu 37 2 63280223 63280223 + Splice_Site SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:63280223G>T ENST00000366671.3 + 3 373 c.e3+1 OTX1_ENST00000282549.2_Splice_Site NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) GGCTATCCGGGTGAGCACCAG 0.622000 45 51 3.05275e-18 4.22283e-18 0.013114 1 0 PRG4 10216 broad.mit.edu 37 1 186273948 186273948 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:186273948A>G ENST00000445192.2 + 6 537 c.492A>G c.(490-492)caA>caG p.Q164Q PRG4_ENST00000367483.4_Silent_p.Q123Q|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367484.3_Silent_p.Q123Q|PRG4_ENST00000367485.4_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 164 Ser-rich. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGAAAATCAAGAGtcctcct 0.358000 26 40 0 0 0.021523 0 0 AMER1 139285 broad.mit.edu 37 X 63412891 63412891 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:63412891C>A ENST00000330258.3 - 2 548 c.276G>T c.(274-276)aaG>aaT p.K92N AMER1_ENST00000374869.3_Missense_Mutation_p.K92N|AMER1_ENST00000403336.1_Missense_Mutation_p.K92N NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGGTCTTGCTCTTGCTGAGAC 0.542000 26 20 1.85244e-09 2.18316e-09 0.018920 1 0 COL3A1 1281 broad.mit.edu 37 2 189857637 189857637 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:189857637G>T ENST00000304636.3 + 15 1191 c.1021G>T c.(1021-1023)Gcc>Tcc p.A341S COL3A1_ENST00000317840.5_Missense_Mutation_p.A341S NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 341 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.A341S(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCCTGGAACTGCCGGATTCCC 0.393000 30 45 2.47316e-13 3.16504e-13 0.015359 1 0 MYO5B 4645 broad.mit.edu 37 18 47432935 47432935 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr18:47432935C>A ENST00000285039.7 - 19 2567 c.2268G>T c.(2266-2268)ctG>ctT p.L756L NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 756 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCAGCTTCTCCAGGTAGGCCA 0.567000 17 14 3.32936e-07 3.74598e-07 0.006122 1 0 UNC79 57578 broad.mit.edu 37 14 94121584 94121584 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:94121584T>A ENST00000553484.1 + 40 6624 c.6470T>A c.(6469-6471)cTa>cAa p.L2157Q UNC79_ENST00000256339.4_Missense_Mutation_p.L1958Q|UNC79_ENST00000555664.1_Missense_Mutation_p.L2096Q|UNC79_ENST00000393151.2_Missense_Mutation_p.L2135Q Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2135 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTTTAGGGTCTAAATAACAAA 0.413000 36 40 0 0 0.017118 0 0 COL6A3 1293 broad.mit.edu 37 2 238289831 238289831 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:238289831C>T ENST00000295550.4 - 5 2076 c.1624G>A c.(1624-1626)Ggc>Agc p.G542S COL6A3_ENST00000472056.1_Missense_Mutation_p.G135S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G336S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G336S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G341S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G336S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G542S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G135S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 542 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCCCGGTAGCCGGCTGAACTC 0.557000 25 89 0 0 0.021523 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798799 57798799 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:57798799T>A ENST00000302622.3 + 1 398 c.375T>A c.(373-375)gaT>gaA p.D125E OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TGGCCTATGATCGTTATGTGG 0.517000 41 92 0 0 0.006999 0 0 BRWD3 254065 broad.mit.edu 37 X 79937522 79937522 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:79937522C>A ENST00000373275.4 - 39 4685 c.4469G>T c.(4468-4470)aGg>aTg p.R1490M BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1490 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AGAGCTAGTCCTGGCATGAGA 0.383000 56 24 5.12918e-33 8.11795e-33 0.014410 1 0 IRS1 3667 broad.mit.edu 37 2 227660091 227660091 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:227660091C>A ENST00000305123.4 - 1 4384 c.3364G>T c.(3364-3366)Ggg>Tgg p.G1122W NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1122 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) ACTGCTGCCCCCGCTCCAAAG 0.642000 32 41 5.77227e-19 8.10293e-19 0.008361 1 0 IGSF3 3321 broad.mit.edu 37 1 117150881 117150881 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:117150881C>A ENST00000369486.3 - 5 1670 c.905G>T c.(904-906)tGc>tTc p.C302F IGSF3_ENST00000318837.6_Missense_Mutation_p.C302F|IGSF3_ENST00000369483.1_Missense_Mutation_p.C302F NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 302 Ig-like C2-type 3. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CTCCAGGATGCATCTGAACTC 0.552000 6 4 5.4927e-09 6.40815e-09 0.004482 1 0 SETD2 29072 broad.mit.edu 37 3 47164495 47164495 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:47164495G>A ENST00000409792.3 - 3 1673 c.1631C>T c.(1630-1632)tCa>tTa p.S544L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTTAGAATATGATGACCCTCG 0.353000 """N, F, S, Mis""" clear cell renal carcinoma 62 42 0 0 0.014410 0 0 UGT2A2 574537 broad.mit.edu 37 4 70505056 70505056 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:70505056C>T ENST00000457664.2 - 1 302 c.303G>A c.(301-303)atG>atA p.M101I UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.M302I NM_001105677.2 NP_001099147.2 CAATCCACAGCATTATCATAT 0.358000 19 75 0 0 0.007413 0 0 OR2L13 284521 broad.mit.edu 37 1 248263256 248263256 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:248263256C>G ENST00000366478.2 + 3 916 c.579C>G c.(577-579)gtC>gtG p.V193V OR2L13_ENST00000358120.2_Silent_p.V193V NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ATACTTGGGTCTATGAATATA 0.438000 29 108 0 0 0.005443 0 0 GLB1L 79411 broad.mit.edu 37 2 220104940 220104940 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:220104940G>A ENST00000295759.7 - 6 832 c.519C>T c.(517-519)caC>caT p.H173H GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Silent_p.H173H|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Intron Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 173 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCCCCCATTGTGATAAAGCC 0.512000 63 68 0 0 0.014410 0 0 SALL1 6299 broad.mit.edu 37 16 51172875 51172875 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:51172875C>A ENST00000440970.1 - 2 3398 c.2967G>T c.(2965-2967)aaG>aaT p.K989N SALL1_ENST00000251020.4_Missense_Mutation_p.K1086N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1086 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGACCTCTGTCTTGATGAGAG 0.567000 19 50 6.33239e-15 8.33924e-15 0.010504 1 0 PGM3 5238 broad.mit.edu 37 6 83898411 83898411 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:83898411C>G ENST00000513973.1 - 3 427 c.311G>C c.(310-312)aGa>aCa p.R104T PGM3_ENST00000512866.1_Missense_Mutation_p.R104T|PGM3_ENST00000506587.1_Missense_Mutation_p.R132T|PGM3_ENST00000283977.4_Missense_Mutation_p.R23T NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 104 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) AATAAGCACTCTCTGCATATC 0.423000 8 64 0 0 0.003080 0 0 LAMA5 3911 broad.mit.edu 37 20 60927089 60927089 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:60927089G>A ENST00000252999.3 - 5 800 c.734C>T c.(733-735)tCc>tTc p.S245F LAMA5_ENST00000370677.3_Missense_Mutation_p.S245F|LAMA5_ENST00000370692.3_Missense_Mutation_p.S245F NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 245 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGCGAGTAGGAGAAATTCAT 0.637000 9 6 0 0 0.004482 0 0 SELP 6403 broad.mit.edu 37 1 169564054 169564054 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:169564054C>G ENST00000263686.6 - 13 2200 c.2163G>C c.(2161-2163)tgG>tgC p.W721C SELP_ENST00000367788.2_Missense_Mutation_p.W659C|SELP_ENST00000367791.2_Missense_Mutation_p.W535C|SELP_ENST00000367794.2_Missense_Mutation_p.W659C|SELP_ENST00000458599.2_Missense_Mutation_p.W537C|SELP_ENST00000367786.2_Missense_Mutation_p.W659C|SELP_ENST00000367792.2_Missense_Mutation_p.W537C|SELP_ENST00000367793.2_Missense_Mutation_p.W659C NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 721 Sushi 9. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TGAAGTTTCCCCAGAGGTTGG 0.433000 25 57 0 0 0.018920 0 0 TRIM44 54765 broad.mit.edu 37 11 35747673 35747673 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:35747673C>G ENST00000299413.5 + 3 1256 c.949C>G c.(949-951)Ctt>Gtt p.L317V TRIM44_ENST00000532066.1_3'UTR NM_017583.4 NP_060053.2 Q96DX7 TRI44_HUMAN tripartite motif containing 44 317 intracellular protein binding|zinc ion binding endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) CAAGGAACAACTTGATACCTC 0.448000 22 12 0 0 0.014323 0 0 COBL 23242 broad.mit.edu 37 7 51096499 51096499 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:51096499C>A ENST00000395542.2 - 12 2724 c.2540G>T c.(2539-2541)gGg>gTg p.G847V COBL_ENST00000265136.7_Missense_Mutation_p.G765V O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 765 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TCTGACTTTCCCAATGGGCTG 0.582000 8 54 1.08611e-07 1.23669e-07 0.010729 1 0 SHROOM4 57477 broad.mit.edu 37 X 50350711 50350711 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:50350711T>A ENST00000376020.2 - 6 3456 c.3431A>T c.(3430-3432)gAa>gTa p.E1144V SHROOM4_ENST00000460112.3_Missense_Mutation_p.E1028V|SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1144V NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1144 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttc 0.547000 6 3 0 0 0.001168 0 0 KLK6 5653 broad.mit.edu 37 19 51466679 51466679 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:51466679C>G ENST00000376851.3 - 4 763 c.324G>C c.(322-324)atG>atC p.M108I CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_Start_Codon_SNP_p.M1I|KLK6_ENST00000456750.2_Start_Codon_SNP_p.M1I|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.M108I|KLK6_ENST00000310157.2_Missense_Mutation_p.M108I NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 108 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GGCGCAACAGCATGATGTCCT 0.592000 50 10 0 0 0.014410 0 0 GABRA5 2558 broad.mit.edu 37 15 27128320 27128320 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:27128320C>G ENST00000335625.5 + 5 1104 c.216C>G c.(214-216)atC>atG p.I72M GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.I72M|GABRA5_ENST00000400081.3_Missense_Mutation_p.I72M|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 72 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGAGCGCATCACTCAGGTGA 0.612000 5 33 0 0 0.014758 0 0 USH2A 7399 broad.mit.edu 37 1 216595587 216595587 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:216595587G>C ENST00000366943.2 - 2 478 c.92C>G c.(91-93)aCt>aGt p.T31S USH2A_ENST00000307340.3_Missense_Mutation_p.T31S|USH2A_ENST00000366942.3_Missense_Mutation_p.T31S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 31 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCGTGACTCAGTCAAGGATAT 0.453000 HNSCC(13;0.011) 29 33 0 0 0.009535 0 0 ABCA4 24 broad.mit.edu 37 1 94471099 94471099 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:94471099G>T ENST00000370225.3 - 44 6131 c.6045C>A c.(6043-6045)ggC>ggA p.G2015G ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000535881.1_Silent_p.G134G|ABCA4_ENST00000536513.1_Silent_p.G285G NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2015 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GAGGACAGTAGCCCATATTTT 0.418000 32 34 6.00712e-18 8.26574e-18 0.012213 1 0 PPEF2 5470 broad.mit.edu 37 4 76782042 76782042 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:76782042G>C ENST00000286719.7 - 17 2396 c.2040C>G c.(2038-2040)acC>acG p.T680T NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 680 EF-hand 2. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACAGCTTCCAGGTCTGCCTGA 0.423000 42 60 0 0 0.014410 0 0 TRPC7 57113 broad.mit.edu 37 5 135567188 135567188 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:135567188C>A ENST00000513104.1 - 8 2176 c.1894G>T c.(1894-1896)Gaa>Taa p.E632* TRPC7_ENST00000426057.2_Nonsense_Mutation_p.E516*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.E571* NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 632 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAGATTACTTCAGATAAGCCG 0.413000 4 13 0.014758 0.015076 0.014758 1 0 NLRP2 55655 broad.mit.edu 37 19 55481501 55481501 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:55481501C>A ENST00000543010.1 + 2 261 c.118C>A c.(118-120)Cag>Aag p.Q40K NLRP2_ENST00000448584.2_Missense_Mutation_p.Q40K|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q40K|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q40K|NLRP2_ENST00000339757.7_Missense_Mutation_p.Q40K|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q40K|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q40K|NLRP2_ENST00000263437.6_Missense_Mutation_p.Q40K NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 40 DAPIN. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) ACACGAGCTCCAGAAGATCCC 0.552000 18 67 3.41278e-10 4.08672e-10 0.004990 1 0 TM9SF4 9777 broad.mit.edu 37 20 30729627 30729627 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:30729627G>A ENST00000217315.5 + 5 746 c.406G>A c.(406-408)Gat>Aat p.D136N TM9SF4_ENST00000398022.2_Missense_Mutation_p.D153N Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 153 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCGAGACAGCGATGACAAGAA 0.557000 75 120 0 0 0.014410 0 0 IMPG1 3617 broad.mit.edu 37 6 76734956 76734956 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:76734956C>G ENST00000369963.3 - 4 472 c.283G>C c.(283-285)Gag>Cag p.E95Q IMPG1_ENST00000369950.3_Missense_Mutation_p.E173Q Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 173 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AATGTCTTCTCTGCAGATATT 0.333000 16 44 0 0 0.008871 0 0 TFPI 7035 broad.mit.edu 37 2 188349672 188349672 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:188349672C>A ENST00000233156.3 - 5 695 c.401G>T c.(400-402)tGt>tTt p.C134F AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.C134F|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.C134F|TFPI_ENST00000339091.4_Missense_Mutation_p.C134F NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 134 BPTI/Kunitz inhibitor 2. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) ATAACCTCGACATATTCCAGG 0.318000 14 24 1.05317e-09 1.24825e-09 0.020292 1 0 RNF207 388591 broad.mit.edu 37 1 6267532 6267532 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:6267532G>C ENST00000377939.4 + 3 412 c.285G>C c.(283-285)gcG>gcC p.A95A RNF207_ENST00000377948.2_5'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 95 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GCGTGGAGGCGGTGCGCTGTG 0.687000 11 0 0 0 0.008291 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99019332 99019332 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:99019332G>A ENST00000453547.2 - 5 666 c.667C>T c.(667-669)Cgg>Tgg p.R223W ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R223W|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R214W|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.R223W|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R223W|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R214W TCAATTTGCCGGTCCTTGTCT 0.408000 45 102 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237947029 237947029 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:237947029C>G ENST00000366574.2 + 90 12334 c.12017C>G c.(12016-12018)tCt>tGt p.S4006C RYR2_ENST00000360064.6_Missense_Mutation_p.S4012C|RYR2_ENST00000542537.1_Missense_Mutation_p.S3990C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4006 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTGTGGAATCTTCCAACAAC 0.358000 5 16 0 0 0.001168 0 0 ADH1B 125 broad.mit.edu 37 4 100232027 100232027 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:100232027A>G ENST00000305046.8 - 8 1065 c.998T>C c.(997-999)gTg>gCg p.V333A ADH1B_ENST00000394887.3_Missense_Mutation_p.V293A P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 333 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) AAAATCAGCCACAAGTTTTGG 0.363000 27 104 0 0 0.005443 0 0 FBXO4 26272 broad.mit.edu 37 5 41929992 41929992 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:41929992G>T ENST00000296812.2 + 3 675 c.619G>T c.(619-621)Gct>Tct p.A207S FBXO4_ENST00000509134.1_Missense_Mutation_p.A207S|FBXO4_ENST00000281623.3_Missense_Mutation_p.A207S NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 207 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TTGCCCAACAGCTGGTTTGCC 0.378000 59 103 4.09106e-26 6.20201e-26 0.014410 1 0 IFT172 26160 broad.mit.edu 37 2 27670717 27670717 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:27670717G>A ENST00000260570.3 - 41 4604 c.4501C>T c.(4501-4503)Cat>Tat p.H1501Y NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1501 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GCCCAGCTATGATAGGCCTCG 0.493000 50 75 0 0 0.014410 0 0 OR56B4 196335 broad.mit.edu 37 11 6129885 6129885 + Missense_Mutation SNP C C A rs142740775 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:6129885C>A ENST00000316529.3 + 1 972 c.877C>A c.(877-879)Ccc>Acc p.P293T RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCACTCAACCCCCTGGCCTG 0.502000 5 73 1.23904e-05 1.35321e-05 0.014758 1 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74664011 74664011 + Missense_Mutation SNP C C A rs147701183 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:74664011C>A ENST00000370895.1 + 1 84 c.49C>A c.(49-51)Cag>Aag p.Q17K FPGT_ENST00000534056.1_Missense_Mutation_p.Q17K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.Q17K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.Q17K|FPGT_ENST00000524915.1_Missense_Mutation_p.Q17K|TNNI3K_ENST00000370893.1_Missense_Mutation_p.Q17K|FPGT_ENST00000467578.2_Missense_Mutation_p.Q17K|FPGT_ENST00000370898.2_Missense_Mutation_p.Q17K|FPGT_ENST00000482102.2_Missense_Mutation_p.Q17K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.Q17K|FPGT_ENST00000370894.4_Missense_Mutation_p.Q17K Q59H18 TNI3K_HUMAN 0 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding AGAAGCCACCCAGCGAAAATT 0.622000 8 32 0.00448238 0.00463342 0.004482 1 0 IL36A 27179 broad.mit.edu 37 2 113765460 113765460 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:113765460C>A ENST00000259211.6 + 4 727 c.316C>A c.(316-318)Ctc>Atc p.L106I NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 106 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GAAGTCCTTTCTCTTCTACCA 0.498000 76 92 1.86864e-30 2.9133e-30 0.014410 1 0 GBP4 115361 broad.mit.edu 37 1 89658687 89658687 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:89658687G>T ENST00000355754.6 - 5 667 c.570C>A c.(568-570)gaC>gaA p.D190E NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 190 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) TCCAAATAAAGTCTGGAAAGA 0.483000 19 88 8.00594e-06 8.81752e-06 0.007413 1 0 BAI3 577 broad.mit.edu 37 6 70071174 70071174 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:70071174C>G ENST00000370598.1 + 29 4830 c.4009C>G c.(4009-4011)Cat>Gat p.H1337D BAI3_ENST00000546190.1_Missense_Mutation_p.H301D|BAI3_ENST00000238918.8_Missense_Mutation_p.H543D NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1337 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AACCTTGCCGCATGAAAGGCT 0.403000 15 64 0 0 0.020292 0 0 SNHG14 104472715 broad.mit.edu 37 15 25310177 25310177 + RNA SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:25310177C>G ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA GTGGTTGGATCGATGATGAGT 0.473000 46 55 0 0 0.010771 0 0 PDE6B 5158 broad.mit.edu 37 4 619521 619521 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:619521T>A ENST00000255622.6 + 1 149 c.106T>A c.(106-108)Tgc>Agc p.C36S PDE6B_ENST00000496514.1_Missense_Mutation_p.C36S NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 36 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGCCGCGGCCTGCGAGGACGG 0.652000 27 40 0 0 0.006320 0 0 TSPAN16 26526 broad.mit.edu 37 19 11408889 11408889 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:11408889C>T ENST00000316737.1 + 2 291 c.141C>T c.(139-141)ctC>ctT p.L47L TSPAN16_ENST00000590327.1_Silent_p.L47L|TSPAN16_ENST00000592955.1_Silent_p.L47L NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 47 integral to membrane p.L47L(1) breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 CGAATGTCCTCGGGCTGTCCT 0.547000 25 14 0 0 0.018920 0 0 RAET1K 646024 broad.mit.edu 37 6 150322312 150322312 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:150322312C>A ENST00000533735.1 - 0 564 NR_024045.1 AATCCTGAGCCCCACCCTGCT 0.527000 14 16 6.72482e-11 8.1653e-11 0.003163 1 0 PRKCB 5579 broad.mit.edu 37 16 24231290 24231290 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:24231290G>C ENST00000321728.7 + 17 2047 c.1872G>C c.(1870-1872)aaG>aaC p.K624N PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 624 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AGAGAGACAAGAGAGACACCT 0.448000 11 25 0 0 0.013537 0 0 UNC79 57578 broad.mit.edu 37 14 94007065 94007065 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:94007065G>T ENST00000553484.1 + 13 1566 c.1412G>T c.(1411-1413)cGg>cTg p.R471L UNC79_ENST00000256339.4_Missense_Mutation_p.R294L|UNC79_ENST00000555664.1_Missense_Mutation_p.R471L|UNC79_ENST00000393151.2_Missense_Mutation_p.R471L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 471 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AACCGGCGGCGGCAGCTGGGC 0.498000 20 63 7.45023e-12 9.29496e-12 0.010504 1 0 PARD3B 117583 broad.mit.edu 37 2 205989158 205989158 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:205989158G>T ENST00000406610.2 + 9 1480 c.1273G>T c.(1273-1275)Ggc>Tgc p.G425C PARD3B_ENST00000462231.1_Missense_Mutation_p.G425C|PARD3B_ENST00000358768.2_Missense_Mutation_p.G425C|PARD3B_ENST00000351153.1_Missense_Mutation_p.G425C|PARD3B_ENST00000349953.3_Missense_Mutation_p.G425C NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 425 PDZ 2. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AATAAAAGATGGCCGCCTACA 0.373000 23 52 3.5997e-14 4.67557e-14 0.014323 1 0 OR51D1 390038 broad.mit.edu 37 11 4661787 4661787 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:4661787C>A ENST00000357605.2 + 1 843 c.767C>A c.(766-768)tCc>tAc p.S256Y NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCTGCATCTCCCACCTCTGT 0.547000 54 28 3.76525e-18 5.20153e-18 0.014410 1 0 GABPB2 126626 broad.mit.edu 37 1 151076126 151076126 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:151076126C>T ENST00000368918.3 + 6 1042 c.711C>T c.(709-711)ccC>ccT p.P237P GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368916.1_Intron|GABPB2_ENST00000368917.1_Intron NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 237 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) CATCAGTCCCCCTCTCCAACT 0.468000 21 46 0 0 0.016522 0 0 IGFL2 147920 broad.mit.edu 37 19 46664053 46664053 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:46664053C>T ENST00000434646.2 + 4 580 c.289C>T c.(289-291)Ctc>Ttc p.L97F IGFL2_ENST00000377693.4_Missense_Mutation_p.L86F|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 86 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) TTCCTTTGGCCTCACAAACGA 0.537000 165 105 0 0 0.014410 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577123 158577123 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:158577123A>G ENST00000361284.1 + 1 895 c.895A>G c.(895-897)Aca>Gca p.T299A NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGCTATACAGACAGCTCTGAG 0.453000 82 163 0 0 0.014410 0 0 KCNH3 23416 broad.mit.edu 37 12 49935463 49935463 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:49935463G>A ENST00000257981.6 + 3 621 c.361G>A c.(361-363)Ggg>Agg p.G121R KCNH3_ENST00000550434.1_3'UTR NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 121 PAC. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GAATGAGAAAGGGGAGGTGGC 0.537000 129 141 0 0 0.014410 0 0 KCNU1 157855 broad.mit.edu 37 8 36793247 36793247 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:36793247T>A ENST00000399881.3 + 27 3296 c.3259T>A c.(3259-3261)Tca>Aca p.S1087T NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1087 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GACATTGTATTCACCAGTCTA 0.368000 31 89 0 0 0.008361 0 0 MC3R 4159 broad.mit.edu 37 20 54824346 54824346 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:54824346G>T ENST00000243911.2 + 1 559 c.447G>T c.(445-447)gcG>gcT p.A149A NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 186 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCTTTTACGCGCTCCGCTACC 0.582000 51 30 7.05377e-20 1.0092e-19 0.014410 1 0 SLCO3A1 28232 broad.mit.edu 37 15 92690297 92690297 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:92690297C>T ENST00000318445.6 + 8 1810 c.1596C>T c.(1594-1596)tgC>tgT p.C532C SLCO3A1_ENST00000424469.2_Silent_p.C532C|SLCO3A1_ENST00000555549.1_3'UTR NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 532 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GTCCTGGGTGCCAAGAGGCCT 0.572000 20 74 0 0 0.008871 0 0 FAT4 79633 broad.mit.edu 37 4 126411339 126411339 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:126411339A>G ENST00000394329.3 + 17 13375 c.13362A>G c.(13360-13362)ccA>ccG p.P4454P FAT4_ENST00000335110.5_Silent_p.P2695P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4454 EGF-like 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTAGCTGCCCAGACTCGCACA 0.637000 33 12 0 0 0.010818 0 0 AKAP1 8165 broad.mit.edu 37 17 55191939 55191939 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:55191939G>T ENST00000337714.3 + 6 2456 c.2223G>T c.(2221-2223)caG>caT p.Q741H AKAP1_ENST00000539273.1_Missense_Mutation_p.Q741H|AKAP1_ENST00000571629.1_Missense_Mutation_p.Q741H|AKAP1_ENST00000572557.1_Missense_Mutation_p.Q741H NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 741 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GCCTCGACCAGCAGATGTACC 0.622000 OREG0024595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 33 0.000274275 0.000289837 0.004482 1 0 DEPTOR 64798 broad.mit.edu 37 8 121013906 121013906 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:121013906G>T ENST00000286234.5 + 5 877 c.747G>T c.(745-747)agG>agT p.R249S DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.R148S NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 249 Ser-rich. R -> G (in Ref. 1; CAB66613). intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 TCTGCCTGAGGAAGCAGAGCC 0.488000 31 13 2.49534e-26 3.80504e-26 0.010818 1 0 CRB1 23418 broad.mit.edu 37 1 197404110 197404110 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:197404110T>A ENST00000367397.1 + 5 2118 c.1260T>A c.(1258-1260)ctT>ctA p.L420L CRB1_ENST00000535699.1_Silent_p.L1015L|CRB1_ENST00000367400.3_Silent_p.L1039L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.L927L|CRB1_ENST00000544212.1_Silent_p.L520L P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1039 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AAGTGACCCTTTCCATGACAG 0.463000 38 63 0 0 0.006999 0 0 FAM194A 131831 broad.mit.edu 37 3 150377692 150377692 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:150377692T>C ENST00000295910.6 - 14 2031 c.1979A>G c.(1978-1980)aAt>aGt p.N660S FAM194A_ENST00000491361.1_Missense_Mutation_p.N514S NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 660 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AATTTCTTCATTTATTATATT 0.318000 7 25 0 0 0.003080 0 0 MMRN2 79812 broad.mit.edu 37 10 88703595 88703595 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:88703595G>T ENST00000372027.4 - 6 1019 c.946C>A c.(946-948)Cac>Aac p.H316N NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 316 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TGCTGGGCGTGCAGGCGGTCC 0.602000 45 46 2.00842e-17 2.7205e-17 0.010771 1 0 ADH6 130 broad.mit.edu 37 4 100137346 100137346 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:100137346G>T ENST00000394897.1 - 2 174 c.92C>A c.(91-93)cCa>cAa p.P31Q RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.P31Q|ADH6_ENST00000237653.7_Missense_Mutation_p.P31Q|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 31 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TGCCTTTGGTGGGGCCACTTC 0.398000 27 33 7.41945e-09 8.61747e-09 0.005443 1 0 DRP2 1821 broad.mit.edu 37 X 100510193 100510193 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:100510193A>G ENST00000395209.3 + 20 2728 c.2201A>G c.(2200-2202)cAa>cGa p.Q734R DRP2_ENST00000402866.1_Missense_Mutation_p.Q734R|DRP2_ENST00000541709.1_Missense_Mutation_p.Q656R|DRP2_ENST00000538510.1_Missense_Mutation_p.Q734R NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 734 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 ATGGAAAGTCAAAATTGCTCC 0.453000 69 45 0 0 0.014410 0 0 NLGN3 54413 broad.mit.edu 37 X 70387434 70387434 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:70387434G>A ENST00000374051.3 + 6 1749 c.1427G>A c.(1426-1428)cGc>cAc p.R476H NLGN3_ENST00000536169.1_Missense_Mutation_p.R456H|NLGN3_ENST00000358741.3_Missense_Mutation_p.R496H|NLGN3_ENST00000476589.1_3'UTR NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 496 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CTGCATGCCCGCTACGGCTCG 0.572000 28 19 0 0 0.005524 0 0 FANCM 57697 broad.mit.edu 37 14 45628364 45628364 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:45628364A>T ENST00000267430.5 + 9 1547 c.1462A>T c.(1462-1464)Agt>Tgt p.S488C FANCM_ENST00000542564.2_Missense_Mutation_p.S462C|FANCM_ENST00000556036.1_Missense_Mutation_p.S488C NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 488 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 ATTTCGAGATAGTGTTCAAGA 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 10 0 0 0.003163 0 0 ASNSD1 54529 broad.mit.edu 37 2 190531351 190531351 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:190531351G>T ENST00000260952.4 + 4 906 c.493G>T c.(493-495)Gga>Tga p.G165* ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 165 Glutamine amidotransferase type-2. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) CCAAACATCTGGATTGGCAAA 0.418000 40 112 2.68985e-26 4.09564e-26 0.014410 1 0 HCN1 348980 broad.mit.edu 37 5 45262169 45262169 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:45262169G>T ENST00000303230.4 - 8 2584 c.2527C>A c.(2527-2529)Cga>Aga p.R843R NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 843 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GACATCTGTCGGAAGAGGGTG 0.652000 42 62 5.44703e-19 7.65667e-19 0.009718 1 0 RNASE11 122651 broad.mit.edu 37 14 21052127 21052127 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:21052127G>T ENST00000335950.4 - 3 969 c.507C>A c.(505-507)tgC>tgA p.C169* RNASE11_ENST00000553849.1_Nonsense_Mutation_p.C169*|RNASE11_ENST00000432835.2_Nonsense_Mutation_p.C169*|RNASE11_ENST00000398009.2_Nonsense_Mutation_p.C169*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.C169*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.C169* NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 169 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) TATGGTATTGGCACCTGGGGA 0.448000 23 10 1.22574e-08 1.42049e-08 0.014323 1 0 PRKG1 5592 broad.mit.edu 37 10 52913063 52913063 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:52913063G>T ENST00000373980.4 + 2 868 c.451G>T c.(451-453)Gtg>Ttg p.V151L PRKG1_ENST00000373985.1_Missense_Mutation_p.V124L|PRKG1_ENST00000401604.2_Missense_Mutation_p.V136L NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 136 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AGAAGGAGACGTGGGGTCACT 0.448000 33 42 3.86903e-22 5.65182e-22 0.013726 1 0 DMBT1 1755 broad.mit.edu 37 10 124358301 124358301 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:124358301A>T ENST00000368909.3 + 26 3074 c.2968A>T c.(2968-2970)Agt>Tgt p.S990C DMBT1_ENST00000344338.3_Missense_Mutation_p.S980C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S491C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S980C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.S990C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S491C NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 990 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATCTGAATCCAGTTTGGCCCT 0.537000 158 257 0 0 0.014410 0 0 FERMT3 83706 broad.mit.edu 37 11 63978898 63978898 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:63978898G>C ENST00000279227.5 + 5 761 c.666G>C c.(664-666)aaG>aaC p.K222N FERMT3_ENST00000345728.5_Missense_Mutation_p.K222N NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 222 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 TGTCAGACAAGACCCAGCTCC 0.701000 5 14 0 0 0.001168 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24873742 24873742 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:24873742C>A ENST00000396432.2 - 26 5962 c.5476G>T c.(5476-5478)Ggg>Tgg p.G1826W NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1825 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TCTCTCTCCCCGCTCTGCTCA 0.498000 11 39 6.40141e-05 6.8549e-05 0.010729 1 0 CSMD3 114788 broad.mit.edu 37 8 113484912 113484912 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:113484912C>A ENST00000297405.5 - 32 5547 c.5303G>T c.(5302-5304)gGt>gTt p.G1768V CSMD3_ENST00000455883.2_Missense_Mutation_p.G1664V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1768V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1728V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1768 CUB 10. integral to membrane|plasma membrane p.G1728V(1)|p.G1768V(1) 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 GCCTTCTGAACCTGTTGAACG 0.333000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 20 1.32136e-16 1.77371e-16 0.008740 1 0 GTF3C1 2975 broad.mit.edu 37 16 27549128 27549128 + Silent SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:27549128T>C ENST00000356183.4 - 4 744 c.729A>G c.(727-729)ctA>ctG p.L243L GTF3C1_ENST00000561623.1_Silent_p.L243L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 243 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ACCGGTTCAGTAGGAGGAGGA 0.423000 37 59 0 0 0.008740 0 0 OGDH 4967 broad.mit.edu 37 7 44746964 44746964 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:44746964G>A ENST00000222673.5 + 21 2815 c.2773G>A c.(2773-2775)Gtg>Atg p.V925M OGDH_ENST00000543843.1_Missense_Mutation_p.V876M|OGDH_ENST00000444676.1_Missense_Mutation_p.V940M|OGDH_ENST00000449767.1_Missense_Mutation_p.V921M|OGDH_ENST00000439616.2_Missense_Mutation_p.V775M|OGDH_ENST00000447398.1_Missense_Mutation_p.V936M NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 925 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GGTGGGGCAGGTGGCCATCAC 0.587000 36 45 0 0 0.005524 0 0 IL6R 3570 broad.mit.edu 37 1 154401818 154401818 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:154401818G>T ENST00000368485.3 + 2 669 c.232G>T c.(232-234)Gga>Tga p.G78* IL6R_ENST00000344086.4_Nonsense_Mutation_p.G78* NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 78 Ig-like C2-type. acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGCTGGCATGGGAAGGAGGCT 0.642000 11 40 3.86212e-05 4.15706e-05 0.008291 1 0 GPR98 84059 broad.mit.edu 37 5 89981693 89981693 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:89981693C>A ENST00000405460.2 + 29 6467 c.6371C>A c.(6370-6372)gCa>gAa p.A2124E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2124 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGCTCTCAGCACCAATTGTC 0.428000 9 10 2.74318e-10 3.28866e-10 0.006214 1 0 TNR 7143 broad.mit.edu 37 1 175372391 175372391 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:175372391G>T ENST00000367674.1 - 4 1569 c.861C>A c.(859-861)taC>taA p.Y287* TNR_ENST00000263525.2_Nonsense_Mutation_p.Y287* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 287 Cys-rich.|EGF-like 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCTCACCAACGTAGCCCTCCT 0.627000 14 38 0.000308642 0.000325823 0.003163 1 0 MFGE8 4240 broad.mit.edu 37 15 89442734 89442734 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:89442734G>T ENST00000539437.1 - 9 1168 c.1032C>A c.(1030-1032)tcC>tcA p.S344S MFGE8_ENST00000566497.1_Silent_p.S352S|MFGE8_ENST00000542878.1_Silent_p.S308S|MFGE8_ENST00000268151.7_Silent_p.S300S|MFGE8_ENST00000268150.8_Silent_p.S352S Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 352 F5/8 type C 2. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) TCTTCTTGTGGGAGTGGTTGT 0.642000 78 134 1.38806e-43 2.27276e-43 0.014410 1 0 PKHD1 5314 broad.mit.edu 37 6 51889828 51889828 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:51889828C>T ENST00000371117.3 - 32 5055 c.4780G>A c.(4780-4782)Gag>Aag p.E1594K PKHD1_ENST00000340994.4_Missense_Mutation_p.E1594K NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1594 IPT/TIG 11. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCTGTGCCCTCTATGGTCAAG 0.473000 29 109 0 0 0.006320 0 0 CD34 947 broad.mit.edu 37 1 208062847 208062847 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:208062847C>A ENST00000356522.4 - 5 1038 c.717G>T c.(715-717)agG>agT p.R239S CD34_ENST00000310833.7_Missense_Mutation_p.R239S|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R104S|CD34_ENST00000367036.3_Missense_Mutation_p.R81S NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 239 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GACACTGAGGCCTCACCTCAG 0.622000 16 13 6.31663e-08 7.23188e-08 0.003163 1 0 OR56A4 120793 broad.mit.edu 37 11 6023879 6023879 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:6023879G>T ENST00000330728.4 - 1 545 c.500C>A c.(499-501)tCc>tAc p.S167Y NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAACGTGCAGGACTCCATGGT 0.522000 21 9 2.39187e-15 3.16589e-15 0.008871 1 0 TMC4 147798 broad.mit.edu 37 19 54673393 54673393 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:54673393C>T ENST00000376591.4 - 3 448 c.317G>A c.(316-318)aGa>aAa p.R106K TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.R100K NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 106 integral to membrane p.R100I(1) breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCTGGCATTTCTTTGCCTGGG 0.527000 62 38 0 0 0.014410 0 0 OR52I2 143502 broad.mit.edu 37 11 4608445 4608445 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:4608445C>A ENST00000312614.4 + 1 425 c.403C>A c.(403-405)Cac>Aac p.H135N NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTTTTTGTCCACTTAGCCAC 0.507000 37 30 1.04352e-10 1.25825e-10 0.017118 1 0 BNIP3P1 319138 broad.mit.edu 37 14 28734129 28734129 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:28734129C>A ENST00000550043.1 + 0 534 TCAAGTCGGCCGGAAAATATT 0.478000 21 16 9.95505e-16 1.32438e-15 0.014323 1 0 DEPDC1B 55789 broad.mit.edu 37 5 59899305 59899305 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:59899305C>T ENST00000265036.5 - 9 1222 c.1155G>A c.(1153-1155)ctG>ctA p.L385L DEPDC1B_ENST00000453022.2_Silent_p.L385L|DEPDC1B_ENST00000545085.1_Silent_p.L358L NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 385 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) AATTGTCCATCAGAAACGTTA 0.438000 17 38 0 0 0.004007 0 0 OR4E2 26686 broad.mit.edu 37 14 22133673 22133673 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:22133673T>C ENST00000408935.1 + 1 377 c.377T>C c.(376-378)aTc>aCc p.I126T NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TACGTGGCTATCTGCACTCCA 0.488000 99 42 0 0 0.014410 0 0 ITGB4 3691 broad.mit.edu 37 17 73750667 73750667 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:73750667G>A ENST00000200181.3 + 34 4516 c.4329G>A c.(4327-4329)gtG>gtA p.V1443V ITGB4_ENST00000450894.3_Silent_p.V1373V|ITGB4_ENST00000449880.2_Silent_p.V1373V|ITGB4_ENST00000339591.3_Silent_p.V1373V|ITGB4_ENST00000579662.1_Silent_p.V1373V|GALK1_ENST00000225614.2_Intron NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1443 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCACCTGGTGAATGGCCGGA 0.677000 10 51 0 0 0.008291 0 0 RYR2 6262 broad.mit.edu 37 1 237659932 237659932 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:237659932G>T ENST00000366574.2 + 20 2400 c.2083G>T c.(2083-2085)Gtg>Ttg p.V695L RYR2_ENST00000360064.6_Missense_Mutation_p.V693L|RYR2_ENST00000542537.1_Missense_Mutation_p.V679L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 695 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCACCTGCGAGTGGGCTGGGC 0.512000 23 43 4.16121e-05 4.47437e-05 0.016522 1 0 ADCY4 196883 broad.mit.edu 37 14 24801054 24801054 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:24801054G>A ENST00000310677.4 - 5 722 c.609C>T c.(607-609)ttC>ttT p.F203F ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.F203F|ADCY4_ENST00000554068.2_Silent_p.F203F NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 203 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|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GTGCCTCCCGGAACGTGGCCC 0.662000 18 7 0 0 0.010504 0 0 MALAT1 378938 broad.mit.edu 37 11 65265501 65265501 + RNA SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:65265501G>A ENST00000534336.1 + 0 269 AP000769.7_ENST00000602344.1_lincRNA NR_002819.2 GGGTTTGGAGGAAAGCTTTTA 0.433000 41 60 0 0 0.006999 0 0 RYR2 6262 broad.mit.edu 37 1 237796962 237796962 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:237796962A>G ENST00000366574.2 + 43 6957 c.6640A>G c.(6640-6642)Atg>Gtg p.M2214V RYR2_ENST00000360064.6_Missense_Mutation_p.M2212V|RYR2_ENST00000542537.1_Missense_Mutation_p.M2198V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2214 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCAAAAAGCTATGTTTGATCA 0.348000 31 58 0 0 0.008361 0 0 PIWIL1 9271 broad.mit.edu 37 12 130845875 130845875 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:130845875C>T ENST00000245255.3 + 15 2088 c.1816C>T c.(1816-1818)Cta>Tta p.L606L NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 606 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AAAGATTGCCCTACAGATGAA 0.458000 10 49 0 0 0.010729 0 0 OTOP3 347741 broad.mit.edu 37 17 72943272 72943272 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:72943272G>T ENST00000328801.4 + 6 1322 c.1322G>T c.(1321-1323)cGc>cTc p.R441L NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 441 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GTGGCCAAGCGCCCGCATGAG 0.607000 48 15 6.08268e-21 8.77488e-21 0.014410 1 0 MDN1 23195 broad.mit.edu 37 6 90405582 90405582 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:90405582C>A ENST00000369393.3 - 61 9628 c.9513G>T c.(9511-9513)caG>caT p.Q3171H MDN1_ENST00000428876.1_Missense_Mutation_p.Q3171H Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3171 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTGGAAGGCCTGGCTGCTCC 0.627000 19 41 6.94344e-10 8.29555e-10 0.006122 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140754224 140754224 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:140754224C>A ENST00000517434.1 + 1 574 c.574C>A c.(574-576)Ccg>Acg p.P192T PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAAGTACCCGGAGCTGGT 0.582000 8 4 6.5536e-12 8.20577e-12 0.003080 1 0 SYNE1 23345 broad.mit.edu 37 6 152497696 152497696 + Splice_Site SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:152497696C>G ENST00000367255.5 - 130 24062 c.e130-1 SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000347037.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTGATAATCCTGTGTAATAA 0.398000 HNSCC(10;0.0054) 49 48 0 0 0.014410 0 0 SLC35A5 55032 broad.mit.edu 37 3 112288109 112288109 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:112288109A>T ENST00000492406.1 + 3 505 c.222A>T c.(220-222)atA>atT p.I74I SLC35A5_ENST00000460713.1_3'UTR NM_017945.2 NP_060415.1 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 74 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1) 11 TCTGTGTTATAAAGAAAGGTA 0.338000 5 91 0 0 0.014758 0 0 SLC12A5 57468 broad.mit.edu 37 20 44684847 44684847 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:44684847C>T ENST00000454036.1 + 22 2991 c.2915C>T c.(2914-2916)aCg>aTg p.T972M SLC12A5_ENST00000243964.3_Missense_Mutation_p.T949M NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 972 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCAGCCAACACGCGGCTCCGC 0.577000 19 10 0 0 0.010504 0 0 KCNA5 3741 broad.mit.edu 37 12 5154900 5154900 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:5154900C>A ENST00000252321.3 + 1 1816 c.1587C>A c.(1585-1587)caC>caA p.H529Q NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 529 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 AAACGGATCACGAGGAGCCGG 0.637000 14 37 9.31168e-06 1.02232e-05 0.016723 1 0 USP29 57663 broad.mit.edu 37 19 57642177 57642177 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:57642177A>G ENST00000254181.4 + 4 2588 c.2134A>G c.(2134-2136)Acc>Gcc p.T712A USP29_ENST00000598197.1_Missense_Mutation_p.T712A NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 712 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACTGAGTCCACCAATGGCTT 0.423000 57 47 0 0 0.014410 0 0 NAV3 89795 broad.mit.edu 37 12 78415551 78415551 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:78415551C>T ENST00000397909.2 + 9 2105 c.1932C>T c.(1930-1932)acC>acT p.T644T NAV3_ENST00000228327.6_Silent_p.T644T|NAV3_ENST00000266692.7_Silent_p.T644T|NAV3_ENST00000536525.2_Silent_p.T644T Q8IVL0 NAV3_HUMAN neuron navigator 3 644 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.T644T(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATGAAGGTACCGCTTTACCAT 0.408000 HNSCC(70;0.22) 35 46 0 0 0.006230 0 0 CD1E 913 broad.mit.edu 37 1 158325898 158325898 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:158325898G>T ENST00000434258.1 + 4 912 c.901G>T c.(901-903)Gag>Tag p.E301* CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron P15812 CD1E_HUMAN CD1e molecule 0 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CCATTGGGGTGAGAAACAGCT 0.552000 10 47 7.48243e-07 8.39158e-07 0.006214 1 0 PHB2 11331 broad.mit.edu 37 12 7079435 7079435 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:7079435C>T ENST00000535923.1 - 2 417 c.136G>A c.(136-138)Ggg>Agg p.G46R PHB2_ENST00000440277.1_Missense_Mutation_p.G46R|PHB2_ENST00000546111.1_Missense_Mutation_p.G46R|PHB2_ENST00000399433.2_Missense_Mutation_p.G46R|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Missense_Mutation_p.G46R NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 46 Necessary for transcriptional repression. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 GCTCTGTGCCCGCCTTCCACT 0.632000 44 118 0 0 0.014410 0 0 LILRA2 11027 broad.mit.edu 37 19 55085923 55085923 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:55085923C>A ENST00000251377.3 + 4 359 c.226C>A c.(226-228)Cct>Act p.P76T LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Missense_Mutation_p.P64T|LILRA2_ENST00000251376.3_Missense_Mutation_p.P76T|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P76T|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GATACAAGAGCCTGGGAAGAA 0.522000 12 78 9.31168e-06 1.02232e-05 0.016723 1 0 TRIM68 55128 broad.mit.edu 37 11 4626536 4626536 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:4626536T>A ENST00000300747.5 - 2 488 c.199A>T c.(199-201)Agg>Tgg p.R67W NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 67 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CGCAGGTTCCTTGGCTGGACA 0.567000 52 27 0 0 0.014410 0 0 MYBL1 4603 broad.mit.edu 37 8 67492438 67492438 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:67492438T>C ENST00000522677.3 - 9 1441 c.1031A>G c.(1030-1032)gAg>gGg p.E344G MYBL1_ENST00000524176.2_Missense_Mutation_p.E344G|MYBL1_ENST00000517885.1_Intron NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 344 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) AGCGTTTGCCTCCACGGCCAG 0.413000 15 16 0 0 0.003163 0 0 CECR2 27443 broad.mit.edu 37 22 18029082 18029082 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:18029082G>T ENST00000262608.8 + 16 4042 c.4042G>T c.(4042-4044)Gcc>Tcc p.A1348S CECR2_ENST00000400573.4_Missense_Mutation_p.A1347S|CECR2_ENST00000400585.2_Missense_Mutation_p.A1205S NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1389 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CCCTGTGGCTGCCCTCCCACC 0.637000 13 7 5.50884e-06 6.08012e-06 0.013537 1 0 SLC45A1 50651 broad.mit.edu 37 1 8390955 8390955 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:8390955C>A ENST00000471889.1 + 5 1787 c.1402C>A c.(1402-1404)Ccc>Acc p.P468T SLC45A1_ENST00000289877.8_Missense_Mutation_p.P468T|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.P502T Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 468 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGGAGGGGGTCCCGAAACCAG 0.607000 52 32 6.56871e-35 1.04439e-34 0.014410 1 0 OR51V1 283111 broad.mit.edu 37 11 5221843 5221843 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:5221843C>T ENST00000321255.1 - 1 87 c.88G>A c.(88-90)Gag>Aag p.E30K NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATTGCTGCTCCATGCCAGAA 0.458000 24 44 0 0 0.016522 0 0 CPNE5 57699 broad.mit.edu 37 6 36742827 36742827 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:36742827G>C ENST00000244751.2 - 10 1272 c.648C>G c.(646-648)caC>caG p.H216Q NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 216 C2 2. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCTCGGTCTTGTGGCAAATGG 0.532000 31 13 0 0 0.009535 0 0 LVRN 206338 broad.mit.edu 37 5 115336320 115336320 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:115336320G>T ENST00000357872.4 + 9 1736 c.1612G>T c.(1612-1614)Gct>Tct p.A538S AQPEP_ENST00000395528.2_Missense_Mutation_p.A55S NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 538 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CTACTCAAACGCTGAGCAAGA 0.348000 20 10 1.9806e-07 2.2454e-07 0.014323 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120312488 120312488 + Silent SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:120312488T>C ENST00000397843.2 + 14 1331 c.1165T>C c.(1165-1167)Tta>Cta p.L389L ARHGEF12_ENST00000532993.1_Silent_p.L286L|ARHGEF12_ENST00000356641.3_Silent_p.L370L NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 389 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GGCTGTTTTCTTACACCATGT 0.388000 T MLL AML 69 90 0 0 0.014410 0 0 UGT2A2 574537 broad.mit.edu 37 4 70505055 70505055 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:70505055G>T ENST00000457664.2 - 1 303 c.304C>A c.(304-306)Ctg>Atg p.L102M UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L303M NM_001105677.2 NP_001099147.2 TCAATCCACAGCATTATCATA 0.363000 19 75 5.03518e-11 6.128e-11 0.007413 1 0 APMAP 57136 broad.mit.edu 37 20 24949666 24949666 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:24949666C>G ENST00000217456.2 - 8 1193 c.903G>C c.(901-903)atG>atC p.M301I APMAP_ENST00000447138.1_Intron NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein GAAATCCAGGCATGTTCTCCA 0.537000 34 18 0 0 0.015359 0 0 FRMPD2 143162 broad.mit.edu 37 10 49440268 49440268 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:49440268T>A ENST00000374201.3 - 10 1360 c.1058A>T c.(1057-1059)cAc>cTc p.H353L FRMPD2_ENST00000407470.4_Missense_Mutation_p.H322L|FRMPD2_ENST00000305531.3_Missense_Mutation_p.H329L NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 353 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TACCTCCAGGTGCTGCCCGTT 0.463000 22 40 0 0 0.016522 0 0 PTPN1 5770 broad.mit.edu 37 20 49196459 49196459 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:49196459G>A ENST00000371621.3 + 8 1258 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K PTPN1_ENST00000541713.1_Missense_Mutation_p.E289K NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 362 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) CTACGGCATCGAAAGGTAATA 0.512000 OREG0026029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 27 0 0 0.004007 0 0 ELMO3 79767 broad.mit.edu 37 16 67235956 67235956 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:67235956G>A ENST00000393997.2 + 12 1343 c.1286G>A c.(1285-1287)aGa>aAa p.R429K ELMO3_ENST00000360833.1_Missense_Mutation_p.R412K|ELMO3_ENST00000477898.1_Missense_Mutation_p.R263K NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 376 ELMO. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TACTTCTCCAGAAACGCGCCC 0.657000 28 92 0 0 0.004656 0 0 FLG2 388698 broad.mit.edu 37 1 152326480 152326480 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:152326480C>A ENST00000388718.5 - 3 3854 c.3782G>T c.(3781-3783)gGg>gTg p.G1261V FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1261 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TACCCTGGACCCTGTCTGTGT 0.458000 70 160 2.36135e-34 3.743e-34 0.014410 1 0 OR52N5 390075 broad.mit.edu 37 11 5799723 5799723 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:5799723C>A ENST00000317093.2 - 1 174 c.142G>T c.(142-144)Gtg>Ttg p.V48L TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AGATTCCCCACAAGGAAGATG 0.423000 27 72 1.75199e-13 2.24487e-13 0.007291 1 0 SLC5A12 159963 broad.mit.edu 37 11 26725153 26725153 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:26725153C>A ENST00000396005.3 - 6 1055 c.746G>T c.(745-747)tGg>tTg p.W249L SLC5A12_ENST00000280467.6_Missense_Mutation_p.W249L NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 249 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GATTCCGAGCCAAGTAAAAGT 0.398000 7 90 8.12818e-05 8.6684e-05 0.001984 1 0 PRB2 653247 broad.mit.edu 37 12 11546891 11546891 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:11546891G>T ENST00000389362.4 - 3 156 c.121C>A c.(121-123)Cca>Aca p.P41T PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CCTCCTTGTGGGGGTGCTCCT 0.507000 114 96 2.00748e-32 3.16763e-32 0.014410 1 0 SHANK1 50944 broad.mit.edu 37 19 51215347 51215347 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:51215347G>T ENST00000293441.1 - 6 835 c.817C>A c.(817-819)Ccc>Acc p.P273T SHANK1_ENST00000391814.1_Missense_Mutation_p.P273T|SHANK1_ENST00000359082.3_Missense_Mutation_p.P273T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 273 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TTGTAGTTGGGGGAACCCCCA 0.592000 26 51 7.4402e-23 1.09606e-22 0.021523 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33616027 33616027 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:33616027T>C ENST00000504830.1 - 15 2629 c.2294A>G c.(2293-2295)tAt>tGt p.Y765C ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Y680C NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 765 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TGCCAGCTTATAGTTCCCGTT 0.473000 HNSCC(64;0.19) 54 107 0 0 0.014410 0 0 SEMA4G 57715 broad.mit.edu 37 10 102733330 102733330 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:102733330G>T ENST00000210633.3 + 3 378 c.300G>T c.(298-300)atG>atT p.M100I SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.M100I|SEMA4G_ENST00000370250.4_Missense_Mutation_p.M100I Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 100 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CCCCAGAGATGCAAAGCAAAT 0.512000 20 28 3.5997e-14 4.67557e-14 0.014323 1 0 WARS2 10352 broad.mit.edu 37 1 119575622 119575622 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:119575622T>A ENST00000235521.4 - 6 1021 c.995A>T c.(994-996)gAg>gTg p.E332V WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.E238V NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 332 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TAAAACCTTCTCTAAATGGTC 0.433000 55 69 0 0 0.014410 0 0 FAM134B 54463 broad.mit.edu 37 5 16481131 16481131 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:16481131G>A ENST00000306320.9 - 5 743 c.657C>T c.(655-657)ctC>ctT p.L219L FAM134B_ENST00000399793.2_Silent_p.L78L NM_001034850.2 NP_001030022.1 Q9H6L5 F134B_HUMAN family with sequence similarity 134, member B 219 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1) 16 GTAGATAGCTGAGTATAACCC 0.403000 12 44 0 0 0.016723 0 0 PDGFD 80310 broad.mit.edu 37 11 103797707 103797707 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:103797707C>T ENST00000302251.5 - 6 1353 c.902G>A c.(901-903)gGc>gAc p.G301D PDGFD_ENST00000393158.2_Missense_Mutation_p.G307D NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 307 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) AGTTCCACAGCCACAATTTCC 0.463000 15 25 0 0 0.004007 0 0 SLC26A10 65012 broad.mit.edu 37 12 58019492 58019492 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:58019492G>C ENST00000320442.4 + 14 1967 c.1656G>C c.(1654-1656)agG>agC p.R552S SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR NM_133489.2 NP_597996.2 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 552 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) GTAGCACCAGGAGCGGGAGCC 0.602000 30 38 0 0 0.010818 0 0 HYAL1 3373 broad.mit.edu 37 3 50338079 50338079 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:50338079G>A ENST00000266031.4 - 3 1758 c.1143C>T c.(1141-1143)ctC>ctT p.L381L HYAL1_ENST00000320295.8_Silent_p.L381L|HYAL1_ENST00000395143.2_Silent_p.L351L|HYAL1_ENST00000457214.2_Silent_p.L199L|HYAL1_ENST00000447605.2_Silent_p.L122L|HYAL1_ENST00000395144.2_Silent_p.L381L Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 381 EGF-like. extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) CAGGGTTAAGGAGGAGGAGGG 0.647000 7 18 0 0 0.001984 0 0 ZSCAN32 54925 broad.mit.edu 37 16 3434811 3434811 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:3434811G>C ENST00000396852.4 - 6 1189 c.882C>G c.(880-882)ctC>ctG p.L294L ZSCAN32_ENST00000304926.3_Silent_p.L82L|ZSCAN32_ENST00000422427.2_Silent_p.L82L|ZSCAN32_ENST00000574940.1_Silent_p.L294L|ZSCAN32_ENST00000396846.3_Silent_p.L294L|ZSCAN32_ENST00000439568.2_Silent_p.L5L|LA16c-306E5.2_ENST00000575785.1_RNA|ZSCAN32_ENST00000573830.1_Silent_p.L5L zinc finger and SCAN domain containing 32 CCTGCTCCCAGAGTCCTTCCG 0.527000 41 92 0 0 0.011902 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171829 68171829 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:68171829C>T ENST00000243457.3 + 2 1032 c.649C>T c.(649-651)Ctt>Ttt p.L217F KCNJ2_ENST00000535240.1_Missense_Mutation_p.L217F NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 217 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) AGTGGGCAATCTTCGGAAAAG 0.478000 16 79 0 0 0.004007 0 0 GRIA2 2891 broad.mit.edu 37 4 158281226 158281226 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:158281226C>A ENST00000296526.7 + 13 2547 c.2222C>A c.(2221-2223)aCc>aAc p.T741N GRIA2_ENST00000393815.2_Missense_Mutation_p.T694N|GRIA2_ENST00000507898.1_Missense_Mutation_p.T694N|GRIA2_ENST00000264426.9_Missense_Mutation_p.T741N|GRIA2_ENST00000449365.1_Missense_Mutation_p.T694N NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 741 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CCTTGCGACACCATGAAAGTT 0.468000 18 30 8.00594e-06 8.81752e-06 0.007413 1 0 PTPRH 5794 broad.mit.edu 37 19 55711607 55711607 + Missense_Mutation SNP T T G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:55711607T>G ENST00000376350.3 - 7 1439 c.1417A>C c.(1417-1419)Aca>Cca p.T473P PTPRH_ENST00000263434.5_Missense_Mutation_p.T295P|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 473 Fibronectin type-III 5. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TTCCTACCTGTGGAGATGCTG 0.547000 34 30 0 0 0.007835 0 0 RBM26 64062 broad.mit.edu 37 13 79940297 79940297 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:79940297G>C ENST00000438737.2 - 8 1609 c.1169C>G c.(1168-1170)tCt>tGt p.S390C RBM26_ENST00000267229.7_Missense_Mutation_p.S390C|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000438724.1_Missense_Mutation_p.S390C Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 390 Pro-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) ATCCATGCCAGATGGCTGCAA 0.448000 40 37 0 0 0.006999 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887583 9887583 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr18:9887583C>T ENST00000306084.6 + 2 1306 c.1107C>T c.(1105-1107)ccC>ccT p.P369P TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.P302P NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 369 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCATCCAGCCCAAGGAGGGTG 0.562000 40 102 0 0 0.007835 0 0 RYR2 6262 broad.mit.edu 37 1 237754253 237754253 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:237754253A>G ENST00000366574.2 + 31 4438 c.4121A>G c.(4120-4122)aAa>aGa p.K1374R RYR2_ENST00000360064.6_Missense_Mutation_p.K1372R|RYR2_ENST00000542537.1_Missense_Mutation_p.K1358R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1374 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACAACCACAAAGATTATGCC 0.408000 13 24 0 0 0.006122 0 0 AGAP6 414189 broad.mit.edu 37 10 51768803 51768803 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:51768803C>T ENST00000374056.4 + 7 1247 c.849C>T c.(847-849)acC>acT p.T283T AGAP6_ENST00000412531.3_Silent_p.T306T C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 306 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 AATACGTCACCCTGTGTTCCA 0.423000 133 247 0 0 0.014410 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622694 65622694 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:65622694G>T ENST00000327987.4 - 11 2046 c.1795C>A c.(1795-1797)Cag>Aag p.Q599K NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 599 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCTCCATGCTGGTTGTAGGCG 0.612000 97 108 6.09681e-45 1.00141e-44 0.014410 1 0 KIAA0232 9778 broad.mit.edu 37 4 6863978 6863978 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:6863978C>G ENST00000307659.5 + 7 2324 c.1869C>G c.(1867-1869)ctC>ctG p.L623L KIAA0232_ENST00000425103.1_Silent_p.L623L NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 623 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 GCACAGTGCTCAATTCACACC 0.448000 17 52 0 0 0.004990 0 0 ZNF483 158399 broad.mit.edu 37 9 114305175 114305175 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:114305175C>G ENST00000309235.5 + 6 2118 c.1960C>G c.(1960-1962)Cag>Gag p.Q654E ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 654 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 AAGTCGTCATCAGAGAATTCA 0.398000 45 15 0 0 0.011902 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908202 164908202 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:164908202G>T ENST00000475390.1 - 2 860 c.417C>A c.(415-417)gtC>gtA p.V139V SLITRK3_ENST00000241274.3_Silent_p.V139V O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 139 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CATTTCTGAAGACATCTAGTT 0.378000 HNSCC(40;0.11) 26 40 8.24728e-16 1.09858e-15 0.004656 1 0 C10orf120 399814 broad.mit.edu 37 10 124459151 124459151 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:124459151C>G ENST00000329446.4 - 1 187 c.156G>C c.(154-156)ctG>ctC p.L52L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 52 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) AAGCAGAACTCAGATCCTCTT 0.468000 15 18 0 0 0.020292 0 0 AFF2 2334 broad.mit.edu 37 X 148059939 148059939 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:148059939A>T ENST00000370460.2 + 18 4003 c.3524A>T c.(3523-3525)aAg>aTg p.K1175M AFF2_ENST00000286437.5_Missense_Mutation_p.K816M|AFF2_ENST00000342251.3_Missense_Mutation_p.K1142M|AFF2_ENST00000370457.5_Missense_Mutation_p.K1140M NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1175 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAGCTGAAGAAGGACCATGCT 0.348000 91 25 0 0 0.014410 0 0 ZNF208 7757 broad.mit.edu 37 19 22170039 22170039 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:22170039C>A ENST00000397126.4 - 3 353 c.205G>T c.(205-207)Gag>Tag p.E69* ZNF208_ENST00000597040.1_Nonsense_Mutation_p.E37*|ZNF208_ENST00000599916.1_Nonsense_Mutation_p.E69*|ZNF208_ENST00000601773.1_Nonsense_Mutation_p.E69* 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) TCCACCATCTCATGTCTCTTC 0.423000 16 21 1.67942e-08 1.94194e-08 0.006122 1 0 FCAMR 83953 broad.mit.edu 37 1 207135640 207135640 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:207135640C>A ENST00000324852.4 - 5 1044 c.570G>T c.(568-570)ccG>ccT p.P190P FCAMR_ENST00000400962.3_Silent_p.P190P|FCAMR_ENST00000450945.2_Silent_p.P190P NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 145 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 CGATGTCATCCGGGGACAGTT 0.522000 30 56 2.08457e-15 2.76265e-15 0.010818 1 0 CYP2C9 1559 broad.mit.edu 37 10 96701754 96701754 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:96701754C>T ENST00000260682.6 + 2 320 c.308C>T c.(307-309)gCt>gTt p.A103V CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 103 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TTCCCACTGGCTGAAAGAGCT 0.498000 79 82 0 0 0.014410 0 0 GORASP2 26003 broad.mit.edu 37 2 171818182 171818182 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:171818182C>T ENST00000234160.4 + 8 1648 c.833C>T c.(832-834)aCa>aTa p.T278I GORASP2_ENST00000452526.2_Missense_Mutation_p.T290I|GORASP2_ENST00000493692.1_3'UTR NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 278 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 GGTGTACCAACAGTACCGTTA 0.423000 86 52 0 0 0.014410 0 0 UNC13A 23025 broad.mit.edu 37 19 17766706 17766706 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:17766706G>T ENST00000428389.2 - 11 1532 c.1533C>A c.(1531-1533)ccC>ccA p.P511P UNC13A_ENST00000552293.1_Silent_p.P423P|UNC13A_ENST00000551649.1_Silent_p.P423P|UNC13A_ENST00000550896.1_Silent_p.P423P|UNC13A_ENST00000519716.2_Silent_p.P423P|UNC13A_ENST00000252773.7_Silent_p.P423P Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 423 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CCTCGTCCTTGGGTGGCTCAG 0.677000 7 3 8.12818e-05 8.6684e-05 0.001984 1 0 MAN2B2 23324 broad.mit.edu 37 4 6596438 6596438 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:6596438G>T ENST00000285599.3 + 7 1072 c.1036G>T c.(1036-1038)Gac>Tac p.D346Y MAN2B2_ENST00000504248.1_Missense_Mutation_p.D295Y NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 346 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 CGACCACCACGACTTCCTGCC 0.622000 9 14 2.17888e-05 2.36973e-05 0.006214 1 0 TXK 7294 broad.mit.edu 37 4 48076000 48076000 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:48076000C>G ENST00000264316.4 - 13 1394 c.1309G>C c.(1309-1311)Gtt>Ctt p.V437L TXK_ENST00000507351.1_Missense_Mutation_p.V92L NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 437 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 AAAAGAAAAACTTCAGGAGGG 0.388000 25 53 0 0 0.016522 0 0 SPAG17 200162 broad.mit.edu 37 1 118550695 118550695 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:118550695A>G ENST00000336338.5 - 31 4624 c.4559T>C c.(4558-4560)aTt>aCt p.I1520T NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1520 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) CTTTGCAATAATAGTTGTTCC 0.488000 31 37 0 0 0.012213 0 0 CLK1 1195 broad.mit.edu 37 2 201719749 201719749 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:201719749T>C ENST00000434813.2 - 10 1578 c.1244A>G c.(1243-1245)tAt>tGt p.Y415C CLK1_ENST00000409769.2_Missense_Mutation_p.Y196C|CLK1_ENST00000321356.4_Missense_Mutation_p.Y373C NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 373 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 AAACCCAAGATAGTATTCAAT 0.373000 26 68 0 0 0.007291 0 0 CHL1 10752 broad.mit.edu 37 3 386319 386319 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:386319G>A ENST00000256509.2 + 9 1417 c.775G>A c.(775-777)Gag>Aag p.E259K CHL1_ENST00000397491.2_Missense_Mutation_p.E243K NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 243 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GCCTCCCACTGAGAGTGGCAG 0.383000 11 37 0 0 0.010729 0 0 ATG2B 55102 broad.mit.edu 37 14 96811723 96811723 + Splice_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:96811723C>A ENST00000359933.4 - 3 1219 c.e3-1 NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GAACCAGTTGCTGTGGAAAAT 0.308000 12 13 2.80697e-09 3.28952e-09 0.010729 1 0 OR5J2 282775 broad.mit.edu 37 11 55944180 55944180 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:55944180G>T ENST00000312298.1 + 1 87 c.87G>T c.(85-87)gtG>gtT p.V29V NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TGCTTTTTGTGGTGTTCCTGG 0.388000 84 150 1.32003e-40 2.14789e-40 0.014410 1 0 LRP1B 53353 broad.mit.edu 37 2 141707947 141707947 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:141707947T>C ENST00000389484.3 - 20 3964 c.2993A>G c.(2992-2994)gAt>gGt p.D998G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 998 LDL-receptor class A 6. 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) GCCCACCTCATCACTCCCGTC 0.453000 TSP Lung(27;0.18) 14 38 0 0 0.020292 0 0 PRTG 283659 broad.mit.edu 37 15 55972348 55972348 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:55972348C>T ENST00000389286.4 - 6 924 c.877G>A c.(877-879)Gat>Aat p.D293N NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 293 Ig-like 3. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGCCTGACATCAGATATCATG 0.383000 15 28 0 0 0.004007 0 0 CCT6B 10693 broad.mit.edu 37 17 33286658 33286658 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:33286658C>A ENST00000314144.5 - 2 264 c.149G>T c.(148-150)gGt>gTt p.G50V CCT6B_ENST00000436961.3_Missense_Mutation_p.G50V|CCT6B_ENST00000421975.3_Missense_Mutation_p.G50V NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 50 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) GTCACCTGCACCAGAAACAAG 0.428000 17 17 2.35188e-11 2.88251e-11 0.006122 1 0 STPG2 285555 broad.mit.edu 37 4 99027175 99027175 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:99027175C>A ENST00000295268.3 - 5 630 c.541G>T c.(541-543)Gat>Tat p.D181Y NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TGTTGTTGATCTCTCTTGATG 0.249000 4 13 2.0095e-06 2.23206e-06 0.001984 1 0 PDE6C 5146 broad.mit.edu 37 10 95394661 95394661 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:95394661C>A ENST00000371447.3 + 9 1404 c.1266C>A c.(1264-1266)acC>acA p.T422T NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 422 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AATACATTACCGAGGCAAGTG 0.378000 33 41 9.04072e-19 1.26231e-18 0.015359 1 0 TRBJ2-2 28628 broad.mit.edu 37 7 142494284 142494284 + RNA SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:142494284G>A ENST00000390413.1 + 0 41 GCTCTAGGCTGACCGTACTGG 0.657000 24 6 0 0 0.018920 0 0 GRID2 2895 broad.mit.edu 37 4 94411926 94411926 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:94411926C>A ENST00000282020.4 + 12 2253 c.1995C>A c.(1993-1995)atC>atA p.I665I GRID2_ENST00000510992.1_Silent_p.I570I NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 665 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AAAGTTCCATCCAGTAAGTAA 0.388000 21 52 9.57634e-11 1.15872e-10 0.018920 1 0 CDH18 1016 broad.mit.edu 37 5 19839086 19839086 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:19839086T>A ENST00000507958.1 - 5 1000 c.10A>T c.(10-12)Act>Tct p.T4S CDH18_ENST00000511273.1_Missense_Mutation_p.T4S|CDH18_ENST00000274170.4_Missense_Mutation_p.T4S|CDH18_ENST00000502796.1_Missense_Mutation_p.T4S|CDH18_ENST00000506372.1_Missense_Mutation_p.T4S|CDH18_ENST00000382275.1_Missense_Mutation_p.T4S Q13634 CAD18_HUMAN cadherin 18, type 2 4 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GATGTGCTAGTAATTTTCATT 0.433000 21 34 0 0 0.010504 0 0 KMT2C 58508 broad.mit.edu 37 7 151970801 151970801 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:151970801G>T ENST00000355193.2 - 7 1219 c.1001C>A c.(1000-1002)gCt>gAt p.A334D KMT2C_ENST00000262189.6_Missense_Mutation_p.A334D lysine (K)-specific methyltransferase 2C TCTTTCAGGAGCTTGGTCAAT 0.383000 11 191 6.40141e-05 6.8549e-05 0.010729 1 0 SPATA18 132671 broad.mit.edu 37 4 52917890 52917890 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:52917890G>A ENST00000295213.4 + 1 394 c.20G>A c.(19-21)aGa>aAa p.R7K SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.R7K NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 7 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AACCTGAAAAGACTGGTCTCA 0.582000 27 167 0 0 0.007291 0 0 CDC14A 8556 broad.mit.edu 37 1 100960462 100960462 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:100960462G>T ENST00000336454.3 + 12 1581 c.1226G>T c.(1225-1227)cGt>cTt p.R409L CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.R409L|CDC14A_ENST00000544534.1_Missense_Mutation_p.R409L|CDC14A_ENST00000542213.1_Missense_Mutation_p.R351L NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 409 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AGACAGCCACGTACCTCACCA 0.363000 38 33 6.1244e-12 7.68682e-12 0.007835 1 0 AFF2 2334 broad.mit.edu 37 X 148037737 148037737 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:148037737A>T ENST00000370460.2 + 11 2641 c.2162A>T c.(2161-2163)aAc>aTc p.N721I AFF2_ENST00000286437.5_Missense_Mutation_p.N362I|AFF2_ENST00000342251.3_Missense_Mutation_p.N688I|AFF2_ENST00000370457.5_Missense_Mutation_p.N688I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 721 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TCTGACTCCAACACAGATCAG 0.478000 92 40 0 0 0.014410 0 0 GPD1 2819 broad.mit.edu 37 12 50501471 50501471 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:50501471G>C ENST00000301149.3 + 6 966 c.734G>C c.(733-735)gGc>gCc p.G245A GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Missense_Mutation_p.G222A NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 245 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) TTCTGCAGTGGCCCTGTGTCC 0.592000 77 109 0 0 0.014410 0 0 CPS1 1373 broad.mit.edu 37 2 211454898 211454898 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:211454898G>C ENST00000233072.5 + 8 976 c.780G>C c.(778-780)ttG>ttC p.L260F CPS1_ENST00000430249.2_Missense_Mutation_p.L266F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 260 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATGGGATTTTGATCGCGGGAG 0.458000 54 183 0 0 0.014410 0 0 SI 6476 broad.mit.edu 37 3 164776753 164776753 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:164776753C>G ENST00000264382.3 - 12 1458 c.1396G>C c.(1396-1398)Gag>Cag p.E466Q NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 466 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATTTTACCTCTCCAATAATT 0.378000 HNSCC(35;0.089) 14 20 0 0 0.003163 0 0 GUK1 2987 broad.mit.edu 37 1 228335203 228335203 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:228335203G>T ENST00000366718.1 + 5 775 c.348G>T c.(346-348)cgG>cgT p.R116R GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366721.1_Silent_p.R118R|GUK1_ENST00000366716.1_Silent_p.R116R|GUK1_ENST00000366726.1_Silent_p.R116R|GUK1_ENST00000366723.1_Silent_p.R137R|GUK1_ENST00000366722.1_Silent_p.R116R|GUK1_ENST00000366730.1_Silent_p.R116R|GUK1_ENST00000312726.4_Silent_p.R116R|GUK1_ENST00000391865.3_Silent_p.R137R|GUK1_ENST00000366728.2_Silent_p.R137R NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 116 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) CCGATCTGCGGCCCATCTACA 0.652000 61 70 3.28884e-47 5.42763e-47 0.014410 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86541468 86541468 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:86541468A>C ENST00000450689.2 - 15 2274 c.2089T>G c.(2089-2091)Tca>Gca p.S697A KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S530A|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S626A|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S457A NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 697 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TTCATTAATGAGCCCACACTG 0.418000 11 63 0 0 0.004990 0 0 RPS16 6217 broad.mit.edu 37 19 39924008 39924008 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:39924008C>A ENST00000339471.4 - 4 481 c.441G>T c.(439-441)atG>atT p.M147I RPS16_ENST00000601655.1_Missense_Mutation_p.D99Y|RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000251453.3_Missense_Mutation_p.D116Y P62249 RS16_HUMAN ribosomal protein S16 0 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2) 7 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGGTCCGGTCATACTGGATG 0.537000 38 72 2.40579e-17 3.25031e-17 0.006230 1 0 EML2 24139 broad.mit.edu 37 19 46130088 46130088 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:46130088C>T ENST00000536630.1 - 11 1195 c.1057G>A c.(1057-1059)Gag>Aag p.E353K EML2_ENST00000589876.1_Missense_Mutation_p.E206K|EML2_ENST00000245925.3_Missense_Mutation_p.E206K|EML2_ENST00000587152.1_Missense_Mutation_p.E407K|EML2_ENST00000586902.1_5'UTR NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 206 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) AATACAGCCTCATTGGAGCAC 0.572000 12 29 0 0 0.013537 0 0 PLOD2 5352 broad.mit.edu 37 3 145803125 145803125 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:145803125T>C ENST00000461497.1 - 1 551 c.43A>G c.(43-45)Aca>Gca p.T15A PLOD2_ENST00000494950.1_Intron|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000282903.5_Intron O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 0 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CTGAAAAATGTTAATATATAT 0.274000 7 10 0 0 0.001984 0 0 ANKRD45 339416 broad.mit.edu 37 1 173616017 173616017 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:173616017T>A ENST00000333279.2 - 3 524 c.464A>T c.(463-465)cAg>cTg p.Q155L NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 171 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 ACACTCAGTCTGAGAATATCT 0.443000 61 87 0 0 0.014410 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863033 10863033 + RNA SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:10863033C>A ENST00000559480.1 + 0 329 p.T110K(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TCTGAGGACACGGCCATGTAT 0.502000 49 337 2.17126e-26 3.3157e-26 0.014410 1 0 LRP1B 53353 broad.mit.edu 37 2 141092069 141092069 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:141092069C>A ENST00000389484.3 - 79 13147 c.12176G>T c.(12175-12177)gGt>gTt p.G4059V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4059 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) TCTCAGTGTACCATCCATGGC 0.433000 TSP Lung(27;0.18) 45 82 4.44712e-29 6.89205e-29 0.014410 1 0 ZNF724P 440519 broad.mit.edu 37 19 23406206 23406206 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:23406206C>A ENST00000418100.1 - 4 958 c.841G>T c.(841-843)Gcc>Tcc p.A281S endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 CATTTGTAGGCATTCTCTCCA 0.363000 9 2 1.58986e-06 1.76972e-06 0.008291 1 0 TBX5 6910 broad.mit.edu 37 12 114793895 114793895 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:114793895G>T ENST00000310346.4 - 9 1665 c.999C>A c.(997-999)acC>acA p.T333T TBX5_ENST00000349716.5_Silent_p.T283T|TBX5_ENST00000405440.2_Silent_p.T333T NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 333 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GATGGTCTGTGGTGGAACATT 0.522000 29 50 1.39806e-14 1.83418e-14 0.008361 1 0 NLRP4 147945 broad.mit.edu 37 19 56379074 56379074 + Splice_Site SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:56379074G>T ENST00000301295.6 + 6 2608 c.e6-1 NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Splice_Site NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTTTCCTGCAGGCTGGTAAAT 0.473000 65 48 6.1719e-39 9.9803e-39 0.014410 1 0 ITSN2 50618 broad.mit.edu 37 2 24480909 24480909 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:24480909C>G ENST00000355123.4 - 23 3179 c.2736G>C c.(2734-2736)aaG>aaC p.K912N ITSN2_ENST00000361999.3_Missense_Mutation_p.K885N|ITSN2_ENST00000406921.3_Missense_Mutation_p.K912N NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 912 SH3 2. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTTATCTTTCTTTGCAGTCC 0.398000 24 84 0 0 0.018920 0 0 CAD 790 broad.mit.edu 37 2 27448030 27448030 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:27448030G>T ENST00000264705.4 + 11 1701 c.1539G>T c.(1537-1539)gaG>gaT p.E513D CAD_ENST00000403525.1_Missense_Mutation_p.E513D NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 513 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGCTGACCGAGGATCGACGGG 0.612000 18 34 1.00905e-13 1.30413e-13 0.008871 1 0 TFDP2 7029 broad.mit.edu 37 3 141724290 141724290 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:141724290G>A ENST00000489671.1 - 4 609 c.179C>T c.(178-180)cCc>cTc p.P60L TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000495310.1_Missense_Mutation_p.P4S|TFDP2_ENST00000486111.1_5'UTR|TFDP2_ENST00000479040.1_5'UTR|TFDP2_ENST00000477292.1_Intron|TFDP2_ENST00000317104.7_5'UTR|TFDP2_ENST00000499676.2_5'UTR|TFDP2_ENST00000467072.1_5'UTR|TFDP2_ENST00000310282.6_5'UTR Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 60 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 TACCATTTGGGGTCCAACATT 0.303000 3 26 0 0 0.004672 0 0 DGKD 8527 broad.mit.edu 37 2 234343525 234343525 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:234343525G>C ENST00000264057.2 + 5 576 c.564G>C c.(562-564)acG>acC p.T188T DGKD_ENST00000409813.3_Silent_p.T144T NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 188 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CTGGGGTCACGTCGCACGGGC 0.552000 35 112 0 0 0.019004 0 0 MAGI1 9223 broad.mit.edu 37 3 65367577 65367577 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:65367577C>A ENST00000330909.8 - 17 2759 c.2760G>T c.(2758-2760)acG>acT p.T920T MAGI1_ENST00000483466.1_Silent_p.T920T|MAGI1_ENST00000402939.2_Silent_p.T892T|MAGI1_ENST00000497477.2_Silent_p.T892T NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 920 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TACGCCGCACCGTGAGATTGA 0.473000 15 23 1.05317e-09 1.24825e-09 0.020292 1 0 KRT78 196374 broad.mit.edu 37 12 53237914 53237914 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:53237914T>C ENST00000359499.4 - 6 691 c.680A>G c.(679-681)cAg>cGg p.Q227R KRT78_ENST00000304620.4_Missense_Mutation_p.Q337R Q8N1N4 K2C78_HUMAN keratin 78 337 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CTGCAGCCTCTGAATCTCTTG 0.517000 85 145 0 0 0.014410 0 0 RBM12B 389677 broad.mit.edu 37 8 94746533 94746533 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:94746533G>A ENST00000399300.2 - 3 2319 c.2106C>T c.(2104-2106)ccC>ccT p.P702P RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 702 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) CCTCCTCTGGGGGCCGCCTGA 0.642000 28 169 0 0 0.007291 0 0 ERP27 121506 broad.mit.edu 37 12 15090912 15090912 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:15090912C>T ENST00000266397.2 - 2 742 c.169G>A c.(169-171)Gag>Aag p.E57K NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 57 Thioredoxin. endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 ACAGCCACCTCAGTGGCAGCA 0.532000 27 102 0 0 0.009535 0 0 TNS1 7145 broad.mit.edu 37 2 218712609 218712609 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:218712609G>A ENST00000171887.4 - 17 2708 c.2256C>T c.(2254-2256)tcC>tcT p.S752S TNS1_ENST00000419504.1_Silent_p.S752S|TNS1_ENST00000430930.1_Silent_p.S752S NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 752 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) ACTGACGGGAGGATCCAGAGA 0.652000 3 28 0 0 0.004672 0 0 HERC1 8925 broad.mit.edu 37 15 63956789 63956789 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:63956789C>G ENST00000443617.2 - 43 8647 c.8560G>C c.(8560-8562)Gat>Cat p.D2854H NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2854 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCCAAATTATCAGGGCTACAA 0.413000 16 31 0 0 0.003163 0 0 MYF5 4617 broad.mit.edu 37 12 81111201 81111201 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:81111201A>T ENST00000228644.3 + 1 511 c.359A>T c.(358-360)aAg>aTg p.K120M NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 120 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 AGGCTGCCCAAGGTGGAGATC 0.592000 45 81 0 0 0.014410 0 0 OR10A5 144124 broad.mit.edu 37 11 6867461 6867461 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:6867461C>A ENST00000299454.4 + 1 579 c.548C>A c.(547-549)cCg>cAg p.P183Q OR10A5_ENST00000379831.2_Missense_Mutation_p.P187Q Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGTGACAGCCCGCCTGTGCTG 0.527000 26 67 1.2476e-16 1.67686e-16 0.006320 1 0 CCDC170 80129 broad.mit.edu 37 6 151939103 151939103 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:151939103G>T ENST00000367290.5 + 11 2079 c.1990G>T c.(1990-1992)Gtg>Ttg p.V664L CCDC170_ENST00000239374.7_Missense_Mutation_p.V657L Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 657 CAGGGAGGTGGTGTCGCAGAT 0.428000 8 57 0.000274275 0.000289837 0.004482 1 0 PLA2G6 8398 broad.mit.edu 37 22 38539223 38539223 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:38539223C>G ENST00000332509.3 - 4 681 c.498G>C c.(496-498)gaG>gaC p.E166D PLA2G6_ENST00000335539.3_Missense_Mutation_p.E166D|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E166D NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 166 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CCACCAGGATCTCCCCATCAC 0.602000 121 66 0 0 0.014410 0 0 BCL11A 53335 broad.mit.edu 37 2 60688270 60688270 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:60688270C>A ENST00000335712.6 - 4 2004 c.1777G>T c.(1777-1779)Gag>Tag p.E593* BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Nonsense_Mutation_p.E559*|BCL11A_ENST00000356842.4_Nonsense_Mutation_p.E593*|BCL11A_ENST00000537768.1_Nonsense_Mutation_p.E262*|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Nonsense_Mutation_p.E559* NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 593 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGGTCCGACTCGCCGGCCACC 0.692000 T IGH@ B-CLL 25 30 8.24728e-16 1.09858e-15 0.004656 1 0 USP20 10868 broad.mit.edu 37 9 132620784 132620784 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:132620784C>T ENST00000315480.4 + 6 395 c.237C>T c.(235-237)ttC>ttT p.F79F USP20_ENST00000358355.1_Silent_p.F79F|USP20_ENST00000372429.3_Silent_p.F79F Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 79 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) TGACCACGTTCCGACTGTGGT 0.542000 58 67 0 0 0.014410 0 0 CLDN6 9074 broad.mit.edu 37 16 3065365 3065365 + Missense_Mutation SNP C C T rs150318164 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:3065365C>T ENST00000396925.1 - 3 1086 c.658G>A c.(658-660)Gtc>Atc p.V220I CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.V220I P56747 CLD6_HUMAN claudin 6 220 Interactions with TJP1, TJP2 and TJP3 (By similarity). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CCACGTCAGACGTAATTCTTG 0.612000 14 40 0 0 0.020292 0 0 NDUFB5 4711 broad.mit.edu 37 3 179336219 179336219 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:179336219G>T ENST00000493866.1 + 3 228 c.203G>T c.(202-204)tGg>tTg p.W68L NDUFB5_ENST00000259037.3_Missense_Mutation_p.W120L|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.W108L NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 120 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) ATATCAAGATGGATTGCCCGT 0.328000 24 39 9.86323e-18 1.34475e-17 0.021523 1 0 MARS 4141 broad.mit.edu 37 12 57884035 57884035 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:57884035A>G ENST00000262027.5 + 6 670 c.536A>G c.(535-537)cAg>cGg p.Q179R MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_3'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 179 GST C-terminal. methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) CTGAGTACCCAGGAACCATGT 0.562000 8 260 0 0 0.003080 0 0 HYAL1 3373 broad.mit.edu 37 3 50340020 50340020 + Nonsense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:50340020G>C ENST00000266031.4 - 1 983 c.368C>G c.(367-369)tCa>tGa p.S123* HYAL1_ENST00000320295.8_Nonsense_Mutation_p.S123*|HYAL1_ENST00000395143.2_Nonsense_Mutation_p.S123*|HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Nonsense_Mutation_p.S123* Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 123 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) TGCCAGCCCTGAGAAGTCAGG 0.622000 34 96 0 0 0.017118 0 0 TMEM2 23670 broad.mit.edu 37 9 74345089 74345089 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:74345089G>A ENST00000377044.4 - 9 2393 c.1854C>T c.(1852-1854)ttC>ttT p.F618F TMEM2_ENST00000377066.5_Silent_p.F555F NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 618 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CCAGATTGTGGAACAAAGTAT 0.418000 13 29 0 0 0.016723 0 0 BAALC 79870 broad.mit.edu 37 8 104225171 104225171 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:104225171C>A ENST00000309982.5 + 2 373 c.185C>A c.(184-186)tCc>tAc p.S62Y RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000297574.6_Missense_Mutation_p.S97Y NM_024812.2 NP_079088.1 Q8WXS3 BAALC_HUMAN brain and acute leukemia, cytoplasmic 97 centrosome|membrane|nucleus kidney(1)|large_intestine(3)|lung(3) 7 OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133) GGACTGCCCTCCAATGGTGTG 0.552000 34 54 1.49673e-21 2.1712e-21 0.006230 1 0 ING4 51147 broad.mit.edu 37 12 6772256 6772256 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:6772256C>G ENST00000341550.4 - 1 58 c.12G>C c.(10-12)ggG>ggC p.G4G ING4_ENST00000412586.2_Silent_p.G4G|ING4_ENST00000444704.2_Silent_p.G4G|ING4_ENST00000446105.2_Silent_p.G4G|ING4_ENST00000396807.4_Silent_p.G4G|ING4_ENST00000423703.2_Silent_p.G4G Q9UNL4 ING4_HUMAN inhibitor of growth family, member 4 4 apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis histone acetyltransferase complex protein binding|transcription coactivator activity|zinc ion binding central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 10 CCAAATACATCCCCGCAGCCA 0.567000 20 21 0 0 0.012319 0 0 CFHR4 10877 broad.mit.edu 37 1 196876549 196876549 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:196876549C>A ENST00000367416.2 + 5 854 c.717C>A c.(715-717)tgC>tgA p.C239* CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AGTACCAGTGCCAGTCCTACT 0.438000 25 51 4.4004e-07 4.94571e-07 0.018920 1 0 SIM1 6492 broad.mit.edu 37 6 100901721 100901721 + Splice_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:100901721C>A ENST00000369208.3 - 3 958 c.e3-1 SIM1_ENST00000262901.4_Splice_Site P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCGCCGAGCCCTGTGGAGACA 0.627000 9 26 1.58986e-06 1.76972e-06 0.008291 1 0 ITGAE 3682 broad.mit.edu 37 17 3657179 3657179 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:3657179G>A ENST00000263087.4 - 13 1523 c.1425C>T c.(1423-1425)tcC>tcT p.S475S NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 475 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity p.S475S(1) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CCGCGATGTAGGAGAGGCTGC 0.627000 8 39 0 0 0.020292 0 0 CPA6 57094 broad.mit.edu 37 8 68430279 68430279 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:68430279C>A ENST00000297770.4 - 3 411 c.196G>T c.(196-198)Gac>Tac p.D66Y CPA6_ENST00000518549.1_Missense_Mutation_p.D66Y|CPA6_ENST00000297769.4_5'UTR NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 66 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TGCCACAGGTCCACCTGTAGT 0.453000 34 34 1.74807e-11 2.15258e-11 0.010818 1 0 SEC23B 10483 broad.mit.edu 37 20 18491570 18491570 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:18491570G>T ENST00000336714.3 + 2 523 c.91G>T c.(91-93)Gct>Tct p.A31S SEC23B_ENST00000262544.2_Missense_Mutation_p.A31S|SEC23B_ENST00000377465.1_Missense_Mutation_p.A31S|SEC23B_ENST00000377475.3_Missense_Mutation_p.A31S NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 31 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 CCGGCTGGAGGCTACAAGAAT 0.507000 47 26 3.05275e-18 4.22283e-18 0.013114 1 0 ZNF385B 151126 broad.mit.edu 37 2 180634376 180634376 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:180634376C>A ENST00000410066.1 - 3 710 c.107G>T c.(106-108)tGt>tTt p.C36F NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 36 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GCACACCTCACAGAAGGAGAA 0.493000 51 35 3.50607e-19 4.95505e-19 0.014410 1 0 TMEM38B 55151 broad.mit.edu 37 9 108536320 108536320 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:108536320T>A ENST00000374688.1 + 6 1383 c.673T>A c.(673-675)Tca>Aca p.S225T TMEM38B_ENST00000374692.3_Missense_Mutation_p.S279T Q9NVV0 TM38B_HUMAN transmembrane protein 38B 279 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 AGATGTTGCCTCAGATAATGT 0.388000 4 60 0 0 0.009096 0 0 NR5A2 2494 broad.mit.edu 37 1 200008890 200008890 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:200008890G>T ENST00000367362.3 + 2 415 c.169G>T c.(169-171)Ggg>Tgg p.G57W NR5A2_ENST00000236914.3_Intron NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 57 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TCGATCGCATGGGGAACAGGG 0.697000 26 36 1.85244e-09 2.18316e-09 0.018920 1 0 OR8H1 219469 broad.mit.edu 37 11 56058348 56058348 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:56058348G>A ENST00000313022.2 - 1 218 c.191C>T c.(190-192)aCt>aTt p.T64I NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) TGACAAGTGAGTAAGGAAAAA 0.408000 133 238 0 0 0.014410 0 0 TMEM52 339456 broad.mit.edu 37 1 1849837 1849837 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:1849837C>A ENST00000378602.3 - 1 399 c.159G>T c.(157-159)ctG>ctT p.L53L TMEM52_ENST00000310991.3_Silent_p.L68L Q8NDY8 TMM52_HUMAN transmembrane protein 52 68 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGACACCACACAGCAGAAGCA 0.652000 19 10 2.35188e-11 2.88251e-11 0.006122 1 0 SNTG1 54212 broad.mit.edu 37 8 51449284 51449284 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:51449284G>T ENST00000522124.1 + 11 1257 c.596G>T c.(595-597)tGg>tTg p.W199L SNTG1_ENST00000518864.1_Missense_Mutation_p.W199L|SNTG1_ENST00000517473.1_Missense_Mutation_p.W199L|SNTG1_ENST00000276467.5_Missense_Mutation_p.W199L NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 199 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GGCTTGAGGTGGGAGAAGCGA 0.483000 27 100 3.65163e-15 4.81498e-15 0.006320 1 0 SYNJ2BP 55333 broad.mit.edu 37 14 70842434 70842434 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:70842434G>A ENST00000256366.4 - 3 337 c.256C>T c.(256-258)Cgt>Tgt p.R86C RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) CCTGCATTACGAAAGAGGTCT 0.463000 59 89 0 0 0.014410 0 0 MFGE8 4240 broad.mit.edu 37 15 89450519 89450519 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:89450519C>A ENST00000539437.1 - 4 406 c.270G>T c.(268-270)ttG>ttT p.L90F MFGE8_ENST00000566497.1_Missense_Mutation_p.L98F|MFGE8_ENST00000542878.1_Missense_Mutation_p.L54F|MFGE8_ENST00000268151.7_Missense_Mutation_p.L98F|MFGE8_ENST00000268150.8_Missense_Mutation_p.L98F|MFGE8_ENST00000559997.1_5'UTR Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 98 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) CCCAATGCTGCAAACCCAAGA 0.602000 13 22 9.31168e-06 1.02232e-05 0.016723 1 0 BRWD1 54014 broad.mit.edu 37 21 40559157 40559157 + Nonsense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:40559157G>C ENST00000333229.2 - 42 7085 c.6758C>G c.(6757-6759)tCa>tGa p.S2253* NM_018963.4 NP_061836.2 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 2253 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTCTGGTCCTGAGATCGTTTC 0.383000 16 56 0 0 0.004007 0 0 DCAF5 8816 broad.mit.edu 37 14 69522223 69522223 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:69522223G>A ENST00000341516.5 - 9 1327 c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000556847.1_Silent_p.L312L|DCAF5_ENST00000557386.1_Silent_p.L393L|DCAF5_ENST00000554215.1_Silent_p.L312L NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 394 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CCACTGTTCAGCACAAGGCTG 0.567000 48 138 0 0 0.014410 0 0 NSMAF 8439 broad.mit.edu 37 8 59510429 59510429 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:59510429C>T ENST00000038176.3 - 20 1830 c.1618G>A c.(1618-1620)Gac>Aac p.D540N NSMAF_ENST00000427130.2_Missense_Mutation_p.D571N NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 540 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) CTGTTCAAGTCTACACCTCCT 0.303000 21 88 0 0 0.014323 0 0 ZWINT 11130 broad.mit.edu 37 10 58119606 58119606 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:58119606C>G ENST00000373944.3 - 4 303 c.265G>C c.(265-267)Gca>Cca p.A89P ZWINT_ENST00000361148.6_Missense_Mutation_p.A89P|ZWINT_ENST00000395405.1_Missense_Mutation_p.A89P O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 89 Interaction with NDC80 and ZW10. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GCTGCAATTGCCTTCTGTCCT 0.547000 27 32 0 0 0.006320 0 0 DOT1L 84444 broad.mit.edu 37 19 2210435 2210435 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:2210435G>T ENST00000398665.3 + 13 1078 c.1042G>T c.(1042-1044)Gag>Tag p.E348* NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 348 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCAGCGCGAGAGCAAGAG 0.721000 2 2 0.0016 0.00166713 0.004672 1 0 TTN 7273 broad.mit.edu 37 2 179582299 179582299 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179582299A>G ENST00000589042.1 - 87 25526 c.25302T>C c.(25300-25302)gcT>gcC p.A8434A TTN_ENST00000342992.6_Silent_p.A7190A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.A8117A|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8117 Ig-like 67. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGGATTAGAAGCAGAGCAAT 0.428000 5 22 0 0 0.014758 0 0 STAM2 10254 broad.mit.edu 37 2 152977148 152977148 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:152977148T>A ENST00000263904.4 - 14 1867 c.1518A>T c.(1516-1518)acA>acT p.T506T NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 506 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) GAGCTGGAACTGTCACCGGAA 0.438000 5 56 0 0 0.014758 0 0 CAPN13 92291 broad.mit.edu 37 2 30974067 30974067 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:30974067C>T ENST00000295055.8 - 11 1314 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K CAPN13_ENST00000534090.2_Missense_Mutation_p.E380K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 380 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TTGGTGCCTTCCATTGGCTCT 0.473000 7 37 0 0 0.004482 0 0 AREL1 9870 broad.mit.edu 37 14 75138120 75138120 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:75138120C>A ENST00000356357.4 - 12 2004 c.1489G>T c.(1489-1491)Gat>Tat p.D497Y AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 CCTTCTTCATCCTGGAAAACA 0.368000 14 48 1.49906e-05 1.63548e-05 0.020292 1 0 ATG2B 55102 broad.mit.edu 37 14 96761467 96761467 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:96761467C>G ENST00000359933.4 - 36 6149 c.5256G>C c.(5254-5256)ttG>ttC p.L1752F ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1752 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AATGCCTTGGCAAACTGCAGG 0.393000 22 64 0 0 0.016522 0 0 DEPDC4 120863 broad.mit.edu 37 12 100660849 100660849 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:100660849C>G ENST00000416321.1 - 1 8 c.6G>C c.(4-6)gtG>gtC p.V2V NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 2 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 CCTCCCCTGGCACCATAGCCC 0.657000 32 55 0 0 0.017118 0 0 ASIC3 9311 broad.mit.edu 37 7 150746307 150746307 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:150746307C>T ENST00000357922.4 + 1 929 c.335C>T c.(334-336)tCt>tTt p.S112F ASIC3_ENST00000349064.5_Missense_Mutation_p.S112F|ASIC3_ENST00000297512.8_Missense_Mutation_p.S112F NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 112 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity TGGGCTGGGTCTGCGCTGCTG 0.697000 11 39 0 0 0.010729 0 0 SLC24A1 9187 broad.mit.edu 37 15 65946348 65946348 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:65946348T>A ENST00000261892.6 + 10 3518 c.3231T>A c.(3229-3231)ctT>ctA p.L1077L SLC24A1_ENST00000399033.4_Silent_p.L1047L|SLC24A1_ENST00000339868.6_Silent_p.L1059L|SLC24A1_ENST00000546330.1_Silent_p.L1059L|SLC24A1_ENST00000544319.2_Silent_p.L963L|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000449142.2_3'UTR NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1077 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGTTCCTCCTTTACTTTGTAT 0.393000 78 73 0 0 0.014410 0 0 OR6C70 390327 broad.mit.edu 37 12 55862992 55862992 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:55862992C>A ENST00000327335.4 - 1 930 c.931G>T c.(931-933)Gac>Tac p.D311Y RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 TATTACTTGTCTGAAGCAGAA 0.308000 20 41 0.00887093 0.00912464 0.008871 1 0 HSPA8 3312 broad.mit.edu 37 11 122930693 122930693 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:122930693C>T ENST00000534624.1 - 5 884 c.608G>A c.(607-609)gGc>gAc p.G203D HSPA8_ENST00000532636.1_Missense_Mutation_p.G203D|HSPA8_ENST00000526110.1_Missense_Mutation_p.G184D|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.G203D|HSPA8_ENST00000227378.3_Missense_Mutation_p.G203D NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 203 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) ATCAAAAGTGCCACCTCCCAG 0.408000 26 61 0 0 0.018920 0 0 NEBL 10529 broad.mit.edu 37 10 21074742 21074742 + Silent SNP G G A rs139156783 by1000genomes TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:21074742G>A ENST00000377122.4 - 28 3375 c.2979C>T c.(2977-2979)taC>taT p.Y993Y NEBL_ENST00000377159.4_Silent_p.Y215Y|NEBL_ENST00000417816.2_Silent_p.Y249Y NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 993 SH3. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCACTGTGCCGTACATCCAGC 0.468000 20 37 0 0 0.008871 0 0 LTN1 26046 broad.mit.edu 37 21 30324587 30324587 + Splice_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:30324587C>A ENST00000361371.4 - 18 3390 c.e18-1 LTN1_ENST00000389194.2_Splice_Site NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TTCTCTGGACCTGAAAAAGGA 0.328000 33 24 1.45844e-13 1.88028e-13 0.013726 1 0 OR4K2 390431 broad.mit.edu 37 14 20344473 20344473 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:20344473G>A ENST00000298642.2 + 1 83 c.47G>A c.(46-48)gGg>gAg p.G16E NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTTTGCTGGGGCTCTCTAAT 0.378000 89 188 0 0 0.014410 0 0 HEPHL1 341208 broad.mit.edu 37 11 93796813 93796813 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:93796813G>T ENST00000315765.9 + 3 563 c.555G>T c.(553-555)gtG>gtT p.V185V NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 185 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGACCTGGGTGTACCATTCGC 0.532000 42 65 5.34276e-22 7.7937e-22 0.014410 1 0 PLXNB2 23654 broad.mit.edu 37 22 50716346 50716346 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:50716346C>T ENST00000449103.1 - 32 5124 c.4984G>A c.(4984-4986)Gac>Aac p.D1662N PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1662N O15031 PLXB2_HUMAN plexin B2 1662 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCTGCTCGTCCAGGAAGTCG 0.607000 44 18 0 0 0.009718 0 0 OR4A47 403253 broad.mit.edu 37 11 48510988 48510988 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:48510988C>G ENST00000446524.1 + 1 720 c.644C>G c.(643-645)tCt>tGt p.S215C NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TTACTCATCTCTTATGGTGTC 0.463000 61 19 0 0 0.014410 0 0 SFTPD 6441 broad.mit.edu 37 10 81697779 81697779 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:81697779C>T ENST00000372292.3 - 8 997 c.957G>A c.(955-957)aaG>aaA p.K319K NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 319 C-type lectin. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TGCCCTCTGTCTTGGAATCAG 0.587000 81 189 0 0 0.014410 0 0 LYST 1130 broad.mit.edu 37 1 235971799 235971799 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:235971799C>G ENST00000389794.3 - 5 2493 c.2319G>C c.(2317-2319)gtG>gtC p.V773V LYST_ENST00000536965.1_Silent_p.V773V|LYST_ENST00000389793.2_Silent_p.V773V Q99698 LYST_HUMAN lysosomal trafficking regulator 773 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAATCTGAAGCACGTCCTGAG 0.463000 12 35 0 0 0.020292 0 0 ARSB 411 broad.mit.edu 37 5 78251159 78251159 + Missense_Mutation SNP C C T rs34555226 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:78251159C>T ENST00000264914.4 - 4 1393 c.857G>A c.(856-858)aGc>aAc p.S286N ARSB_ENST00000396151.3_Missense_Mutation_p.S286N|ARSB_ENST00000565165.1_Missense_Mutation_p.S286N NM_000046.3 NP_000037.2 P15848 ARSB_HUMAN arylsulfatase B 286 lysosomal transport|lysosome organization lysosome arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34) GAGCCCACTGCTTTTTAAAGC 0.418000 33 14 0 0 0.006230 0 0 LYSMD2 256586 broad.mit.edu 37 15 52017177 52017177 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:52017177C>G ENST00000267838.3 - 2 929 c.415G>C c.(415-417)Gct>Cct p.A139P LYSMD2_ENST00000454181.2_Missense_Mutation_p.A48P|LYSMD2_ENST00000560491.1_Missense_Mutation_p.A48P|LYSMD2_ENST00000558126.1_Missense_Mutation_p.A32P NM_153374.2 NP_699205.1 Q8IV50 LYSM2_HUMAN LysM, putative peptidoglycan-binding, domain containing 2 139 cell wall macromolecule catabolic process lung(2)|upper_aerodigestive_tract(1) 3 all cancers(107;0.00258) CTGTTATCAGCAGTTTCATTT 0.438000 28 86 0 0 0.004656 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43831748 43831748 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:43831748G>A ENST00000420765.1 - 30 3601 c.3419C>T c.(3418-3420)tCa>tTa p.S1140L PPIP5K1_ENST00000348806.6_Missense_Mutation_p.S1073L|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.S1116L|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.S1073L|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.S1140L|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.S1136L|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.S1115L|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.S1115L NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1140 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 TGGGTTATCTGAGGCCTGGCT 0.507000 7 11 0 0 0.004482 0 0 FOXF2 2295 broad.mit.edu 37 6 1395050 1395050 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:1395050C>G ENST00000259806.1 + 2 1405 c.1291C>G c.(1291-1293)Cac>Gac p.H431D NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 431 Poly-His. epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) TTATCACCATCACCACCAGAG 0.527000 81 35 0 0 0.014410 0 0 XIRP2 129446 broad.mit.edu 37 2 168106856 168106856 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:168106856G>C ENST00000409195.1 + 9 9043 c.8954G>C c.(8953-8955)gGa>gCa p.G2985A XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2763A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2985A|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2810 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACTATCCCAGGATGGCTGATA 0.333000 70 56 0 0 0.014410 0 0 FGD1 2245 broad.mit.edu 37 X 54497771 54497771 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:54497771G>A ENST00000375135.3 - 2 1190 c.457C>T c.(457-459)Cgg>Tgg p.R153W NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 153 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CCCGGTGCCCGCTTCAGTGGT 0.627000 40 15 0 0 0.007835 0 0 KMT2A 4297 broad.mit.edu 37 11 118390389 118390389 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:118390389G>C ENST00000534358.1 + 32 11226 c.11203G>C c.(11203-11205)Gag>Cag p.E3735Q RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.E3732Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3694Q|RP11-770J1.3_ENST00000554407.1_RNA NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTTCCTCATTGAGCAGCTGTC 0.522000 53 94 0 0 0.014410 0 0 OR51M1 390059 broad.mit.edu 37 11 5411034 5411034 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:5411034G>T ENST00000328611.3 + 1 428 c.406G>T c.(406-408)Gtg>Ttg p.V136L HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 136 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACCGCCTTGTGGCCATCTG 0.507000 62 108 2.5401e-28 3.90755e-28 0.014410 1 0 PCSK5 5125 broad.mit.edu 37 9 78710919 78710919 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:78710919C>A ENST00000545128.1 + 8 1546 c.1008C>A c.(1006-1008)agC>agA p.S336R PCSK5_ENST00000376752.4_Missense_Mutation_p.S336R|PCSK5_ENST00000376767.3_Missense_Mutation_p.S336R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 336 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TCTCCATCAGCAGCACTGCAG 0.517000 31 18 5.6714e-07 6.36735e-07 0.010818 1 0 FBXO40 51725 broad.mit.edu 37 3 121341645 121341645 + Missense_Mutation SNP G G C rs138259890 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:121341645G>C ENST00000338040.4 + 3 1783 c.1369G>C c.(1369-1371)Gtg>Ctg p.V457L NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 457 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GGGACTCCACGTGGAGCTCCA 0.527000 6 40 0 0 0.001168 0 0 PSMF1 9491 broad.mit.edu 37 20 1099525 1099525 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:1099525G>T ENST00000335877.6 + 1 285 c.109G>T c.(109-111)Ggc>Tgc p.G37C PSMF1_ENST00000246015.4_Missense_Mutation_p.G37C|PSMF1_ENST00000438768.2_Missense_Mutation_p.G37C|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Missense_Mutation_p.G37C NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 37 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|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 proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 CGGTTACTTCGGCTTGGGTGT 0.632000 37 19 4.92203e-23 7.26121e-23 0.006230 1 0 MGAT4C 25834 broad.mit.edu 37 12 86373510 86373510 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:86373510C>A ENST00000604798.1 - 8 2198 c.994G>T c.(994-996)Gag>Tag p.E332* MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.E332*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.E361* Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 332 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AATGACTCCTCTTCAAAATCA 0.393000 32 42 2.61193e-14 3.40531e-14 0.009535 1 0 OR2T1 26696 broad.mit.edu 37 1 248570315 248570315 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:248570315C>A ENST00000366474.1 + 1 1020 c.1020C>A c.(1018-1020)taC>taA p.Y340* NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 340 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTCATCTACAGCCTTAGAA 0.517000 36 143 1.04352e-10 1.25825e-10 0.017118 1 0 ZNF844 284391 broad.mit.edu 37 19 12187210 12187210 + Silent SNP A A G rs6511764 by1000genomes TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:12187210A>G ENST00000439326.3 + 4 1450 c.1275A>G c.(1273-1275)gtA>gtG p.V425V ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 TAAGCAGTGTAGTAAAGCCTT 0.428000 3 41 0 0 0.009096 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27887979 27887979 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:27887979G>A ENST00000326019.6 + 2 1120 c.838G>A c.(838-840)Gac>Aac p.D280N NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 280 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) ACCAGAGGAAGACCGAGAGGC 0.463000 23 130 0 0 0.014323 0 0 ZXDC 79364 broad.mit.edu 37 3 126180669 126180669 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:126180669C>A ENST00000389709.3 - 6 1889 c.1836G>T c.(1834-1836)ctG>ctT p.L612L ZXDC_ENST00000336332.5_Silent_p.L612L NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 612 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GCAGAGCCACCAGACAGCCTA 0.562000 37 62 4.0492e-12 5.10679e-12 0.006999 1 0 GPR101 83550 broad.mit.edu 37 X 136112486 136112486 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:136112486G>T ENST00000298110.1 - 1 1347 c.1348C>A c.(1348-1350)Cac>Aac p.H450N NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 450 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) ACATAGGGGTGGATGCAGCAC 0.493000 38 34 1.49673e-21 2.1712e-21 0.006230 1 0 SGOL2 151246 broad.mit.edu 37 2 201437170 201437170 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:201437170G>T ENST00000357799.4 + 7 2199 c.2101G>T c.(2101-2103)Gtt>Ttt p.V701F NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 701 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TATGTACCCCGTTCAGCAAAA 0.348000 38 31 2.40579e-17 3.25031e-17 0.006230 1 0 ROBO1 6091 broad.mit.edu 37 3 78649295 78649295 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:78649295C>T ENST00000436010.2 - 28 5789 c.4792G>A c.(4792-4794)Gaa>Aaa p.E1598K ROBO1_ENST00000467549.1_Missense_Mutation_p.E1537K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E1637K|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Missense_Mutation_p.E1592K Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1637 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TCTCCTCTTTCATATCCTCCA 0.368000 10 22 0 0 0.008291 0 0 C3orf67 200844 broad.mit.edu 37 3 58849595 58849595 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:58849595C>T ENST00000472469.1 - 11 1466 c.628G>A c.(628-630)Gct>Act p.A210T RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.A303T|C3orf67_ENST00000295966.7_Missense_Mutation_p.A303T|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 303 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) ATGTGATCAGCATTTTCAGGA 0.383000 5 32 0 0 0.014758 0 0 CLEC12B 387837 broad.mit.edu 37 12 10167338 10167338 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:10167338C>T ENST00000396502.1 + 3 535 c.407C>T c.(406-408)tCa>tTa p.S136L CLEC12B_ENST00000338896.5_Missense_Mutation_p.S136L NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 136 integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 ATTCATACTTCAGGTAATCAG 0.433000 7 29 0 0 0.003080 0 0 WARS2 10352 broad.mit.edu 37 1 119575623 119575623 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:119575623C>G ENST00000235521.4 - 6 1020 c.994G>C c.(994-996)Gag>Cag p.E332Q WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.E238Q NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 332 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AAAACCTTCTCTAAATGGTCC 0.433000 56 68 0 0 0.014410 0 0 ABCD2 225 broad.mit.edu 37 12 39980046 39980046 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:39980046A>T ENST00000308666.3 - 7 1835 c.1700T>A c.(1699-1701)gTg>gAg p.V567E NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 567 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CATATCATCCACTGAATCAGG 0.393000 35 48 0 0 0.013726 0 0 DBH 1621 broad.mit.edu 37 9 136501599 136501599 + Missense_Mutation SNP G G T rs143544421 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:136501599G>T ENST00000393056.2 + 1 118 c.106G>T c.(106-108)Gca>Tca p.A36S NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 36 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCTGGTGGCCGCACTGCAGGG 0.672000 34 15 4.34311e-12 5.46425e-12 0.015359 1 0 NEB 4703 broad.mit.edu 37 2 152483651 152483651 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:152483651C>T ENST00000397345.3 - 70 10414 c.10212G>A c.(10210-10212)gtG>gtA p.V3404V NEB_ENST00000409198.1_Silent_p.V3161V|NEB_ENST00000604864.1_Silent_p.V3404V|NEB_ENST00000427231.2_Silent_p.V3404V|NEB_ENST00000172853.10_Silent_p.V3161V|NEB_ENST00000603639.1_Silent_p.V3404V NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3404 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCACTTGACCACATCCATAG 0.473000 24 82 0 0 0.014323 0 0 BRINP3 339479 broad.mit.edu 37 1 190203589 190203589 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:190203589C>A ENST00000367462.3 - 5 868 c.637G>T c.(637-639)Ggt>Tgt p.G213C FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G111C NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 213 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CCAAGAGGACCAGTCCGTGTT 0.388000 9 49 1.58986e-06 1.76972e-06 0.008291 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237505 30237505 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:30237505C>A ENST00000378988.4 + 2 909 c.808C>A c.(808-810)Cgc>Agc p.R270S NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 270 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TGATCCCCCACGCTTTCAATT 0.522000 21 15 2.4624e-09 2.89221e-09 0.008871 1 0 OVOL1 5017 broad.mit.edu 37 11 65562768 65562768 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:65562768C>G ENST00000335987.3 + 4 1112 c.760C>G c.(760-762)Cag>Gag p.Q254E OVOL1_ENST00000532448.1_Missense_Mutation_p.Q192E NM_004561.3 NP_004552.2 O14753 OVOL1_HUMAN ovo-like zinc finger 1 254 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) CGTGGCACTACAGAACACTGT 0.642000 9 14 0 0 0.006214 0 0 TMEM71 137835 broad.mit.edu 37 8 133726420 133726420 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:133726420G>T ENST00000356838.3 - 8 879 c.737C>A c.(736-738)tCa>tAa p.S246* TMEM71_ENST00000523829.1_Nonsense_Mutation_p.S265*|TMEM71_ENST00000377901.4_Nonsense_Mutation_p.S202* NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 265 I -> T (in Ref. 1; BAB71537). integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TATCATCAATGAGCATGTGAA 0.343000 19 74 1.15919e-05 1.26866e-05 0.008871 1 0 CYP4B1 1580 broad.mit.edu 37 1 47279949 47279949 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:47279949A>T ENST00000271153.4 + 7 877 c.841A>T c.(841-843)Agg>Tgg p.R281W CYP4B1_ENST00000371923.4_Missense_Mutation_p.R282W|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R267W|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R119W P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 281 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CCAGAACCGGAGGCACCTGGA 0.582000 12 18 0 0 0.016723 0 0 RAD21 5885 broad.mit.edu 37 8 117875490 117875490 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:117875490C>A ENST00000297338.2 - 3 440 c.153G>T c.(151-153)atG>atT p.M51I RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 51 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TCCGTAATGCCATTTTCACCT 0.348000 58 35 1.48873e-21 2.16561e-21 0.014410 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 42 0 0 0.004672 0 0 UNKL 64718 broad.mit.edu 37 16 1451662 1451662 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:1451662C>A ENST00000389221.4 - 4 504 c.505G>T c.(505-507)Ggc>Tgc p.G169C UNKL_ENST00000301712.5_Missense_Mutation_p.G169C|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Missense_Mutation_p.G169C|UNKL_ENST00000397462.1_Missense_Mutation_p.G256C NM_001193388.1 NP_001180317.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 169 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) TCCCCGCCGCCCAGCTGGCCG 0.637000 6 22 0.00116845 0.00121869 0.001168 1 0 KIF19 124602 broad.mit.edu 37 17 72348225 72348225 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:72348225C>A ENST00000389916.4 + 13 1945 c.1807C>A c.(1807-1809)Cac>Aac p.H603N AC103809.2_ENST00000599136.1_Missense_Mutation_p.C16F NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 603 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCTGGAGCAGCACCGCAGTCT 0.721000 23 6 1.9806e-07 2.2454e-07 0.014323 1 0 NELL2 4753 broad.mit.edu 37 12 45059388 45059388 + Silent SNP G G T rs138314628 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:45059388G>T ENST00000429094.2 - 13 1827 c.1323C>A c.(1321-1323)atC>atA p.I441I NELL2_ENST00000395487.2_Silent_p.I440I|NELL2_ENST00000333837.4_Silent_p.I464I|NELL2_ENST00000437801.2_Silent_p.I491I|NELL2_ENST00000452445.2_Silent_p.I441I|NELL2_ENST00000549027.1_Silent_p.I440I|NELL2_ENST00000551601.1_Silent_p.I440I NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 441 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CACACTCATCGATGTCTGTGA 0.418000 49 53 7.89702e-26 1.19371e-25 0.014410 1 0 IPP 3652 broad.mit.edu 37 1 46206826 46206826 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:46206826G>A ENST00000396478.3 - 3 573 c.471C>T c.(469-471)ttC>ttT p.F157F NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 157 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) AGTTTTCTGAGAATTCCAAGA 0.393000 21 78 0 0 0.012319 0 0 TTN 7273 broad.mit.edu 37 2 179592463 179592463 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179592463A>T ENST00000589042.1 - 68 20066 c.19842T>A c.(19840-19842)ctT>ctA p.L6614L TTN_ENST00000342992.6_Silent_p.L5370L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L6297L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6297 Ig-like 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACCTGAGACAAGTTCCACAT 0.408000 125 125 0 0 0.014410 0 0 PRRC2A 7916 broad.mit.edu 37 6 31604910 31604910 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:31604910G>A ENST00000376033.2 + 29 6473 c.6239G>A c.(6238-6240)gGa>gAa p.G2080E PRRC2A_ENST00000376007.4_Missense_Mutation_p.G2080E NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 2080 3 X 50 AA type C repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCCCAACTGGAAGGTGAAAC 0.522000 14 67 0 0 0.016723 0 0 SLC35F5 80255 broad.mit.edu 37 2 114512873 114512873 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:114512873C>A ENST00000245680.2 - 3 555 c.142G>T c.(142-144)Gtg>Ttg p.V48L SLC35F5_ENST00000409342.1_Missense_Mutation_p.V42L NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 48 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 AATACACACACCATTTGCAGT 0.353000 29 36 1.06801e-11 1.32454e-11 0.009535 1 0 MEIS1 4211 broad.mit.edu 37 2 66796210 66796210 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:66796210G>T ENST00000272369.9 + 12 1600 c.1143G>T c.(1141-1143)atG>atT p.M381I MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000398506.2_Intron|MEIS1_ENST00000495021.2_Missense_Mutation_p.M316I|MEIS1_ENST00000407092.2_Intron|MEIS1_ENST00000488550.1_3'UTR NM_002398.2 NP_002389.1 O00470 MEIS1_HUMAN Meis homeobox 1 381 Required for transcriptional activation (By similarity). sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 GCATGAATATGGGCATGGAGG 0.443000 30 196 8.53417e-09 9.90116e-09 0.013726 1 0 NRIP2 83714 broad.mit.edu 37 12 2939958 2939958 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:2939958G>T ENST00000337508.4 - 2 451 c.411C>A c.(409-411)ccC>ccA p.P137P NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 137 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCTGCATCCGGGGAGGCTCCC 0.582000 8 96 0.000157383 0.00016682 0.003080 1 0 CROCC 9696 broad.mit.edu 37 1 17281895 17281895 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:17281895G>A ENST00000375541.5 + 24 3623 c.3554G>A c.(3553-3555)cGt>cAt p.R1185H NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1185 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGCAAGCTGCGTGAGAGCCAG 0.721000 14 1 0 0 0.020292 0 0 BCAR1 9564 broad.mit.edu 37 16 75269347 75269347 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:75269347C>T ENST00000546196.1 - 5 3015 c.1363G>A c.(1363-1365)Gcc>Acc p.A455T BCAR1_ENST00000420641.3_Missense_Mutation_p.A502T|BCAR1_ENST00000542031.2_Missense_Mutation_p.A482T|BCAR1_ENST00000418647.3_Missense_Mutation_p.A530T|BCAR1_ENST00000393420.6_Missense_Mutation_p.A502T|BCAR1_ENST00000535626.2_Missense_Mutation_p.A336T|BCAR1_ENST00000393422.2_Missense_Mutation_p.A502T|BCAR1_ENST00000162330.5_Missense_Mutation_p.A484T|BCAR1_ENST00000538440.2_Missense_Mutation_p.A484T|BCAR1_ENST00000566982.1_5'UTR P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 484 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) GTCGCACCGGCGCTGCCTGCC 0.697000 5 15 0 0 0.014758 0 0 SSTR4 6754 broad.mit.edu 37 20 23016571 23016571 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:23016571C>A ENST00000255008.3 + 1 515 c.451C>A c.(451-453)Cct>Act p.P151T RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 151 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGTGGTGCACCCTCTGCGCGC 0.667000 43 20 3.43241e-23 5.07803e-23 0.009718 1 0 RBBP6 5930 broad.mit.edu 37 16 24582303 24582303 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:24582303C>T ENST00000319715.4 + 18 4348 c.3916C>T c.(3916-3918)Cca>Tca p.P1306S RBBP6_ENST00000348022.2_Missense_Mutation_p.P1272S|RBBP6_ENST00000381039.3_Missense_Mutation_p.P466S NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1306 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CAATACCGCGCCAGCTGAAGA 0.383000 15 40 0 0 0.004007 0 0 IMPG1 3617 broad.mit.edu 37 6 76734955 76734955 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:76734955T>A ENST00000369963.3 - 4 473 c.284A>T c.(283-285)gAg>gTg p.E95V IMPG1_ENST00000369950.3_Missense_Mutation_p.E173V Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 173 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CAATGTCTTCTCTGCAGATAT 0.338000 16 43 0 0 0.008871 0 0 GCN1L1 10985 broad.mit.edu 37 12 120593437 120593437 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:120593437G>C ENST00000300648.6 - 29 3411 c.3399C>G c.(3397-3399)gtC>gtG p.V1133V NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1133 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGTCAAACTTGACCACCCAGA 0.537000 65 63 0 0 0.014410 0 0 PREX2 80243 broad.mit.edu 37 8 69104750 69104750 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:69104750G>A ENST00000288368.4 + 37 4871 c.4594G>A c.(4594-4596)Ggt>Agt p.G1532S NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1532 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTGCAGCAGCGGTGTGCATCG 0.488000 17 17 0 0 0.021523 0 0 LIPE 3991 broad.mit.edu 37 19 42911538 42911538 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:42911538C>T ENST00000244289.4 - 6 2201 c.1925G>A c.(1924-1926)cGc>cAc p.R642H LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 642 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GGACCGCGAGCGGGGTGCCTG 0.672000 22 21 0 0 0.012319 0 0 MRPL42 28977 broad.mit.edu 37 12 93863091 93863091 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:93863091G>T ENST00000549982.1 + 2 191 c.30G>T c.(28-30)atG>atT p.M10I MRPL42_ENST00000547098.1_Missense_Mutation_p.M10I|MRPL42_ENST00000552217.1_Missense_Mutation_p.M10I|MRPL42_ENST00000393128.4_Missense_Mutation_p.M10I|MRPL42_ENST00000361630.2_Missense_Mutation_p.V4F|MRPL42_ENST00000548545.1_Missense_Mutation_p.M10I NM_014050.3|NM_172177.3 NP_054769.1|NP_751917.1 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 10 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 AATGGGTGATGTCAAAGAGAA 0.294000 20 36 1.28384e-07 1.45865e-07 0.012319 1 0 ERAS 3266 broad.mit.edu 37 X 48687841 48687841 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:48687841G>T ENST00000338270.1 + 1 559 c.308G>T c.(307-309)aGg>aTg p.R103M NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 103 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 GCCATCCATAGGGCCCTGCGT 0.602000 39 20 1.7489e-18 2.4289e-18 0.011902 1 0 OR51E2 81285 broad.mit.edu 37 11 4703827 4703827 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:4703827A>T ENST00000396950.3 - 2 354 c.115T>A c.(115-117)Ttt>Att p.F39I NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CAGTTTCCAAACATTGCCACT 0.507000 37 18 0 0 0.019004 0 0 FAT2 2196 broad.mit.edu 37 5 150923793 150923793 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:150923793G>T ENST00000261800.5 - 9 6907 c.6895C>A c.(6895-6897)Cag>Aag p.Q2299K NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2299 Cadherin 20. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGAGTCCTGGTCAGAAGCC 0.507000 47 33 3.4597e-24 5.17714e-24 0.014410 1 0 ITGAE 3682 broad.mit.edu 37 17 3655072 3655072 + Nonsense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:3655072G>A ENST00000263087.4 - 15 1863 c.1765C>T c.(1765-1767)Cag>Tag p.Q589* NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 589 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AGCTTATCCTGACTGAGATCC 0.567000 25 53 0 0 0.005443 0 0 SGCD 6444 broad.mit.edu 37 5 155935677 155935677 + Nonsense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:155935677C>T ENST00000435422.3 + 3 743 c.256C>T c.(256-258)Caa>Taa p.Q86* SGCD_ENST00000337851.4_Nonsense_Mutation_p.Q87*|SGCD_ENST00000447401.1_Nonsense_Mutation_p.Q87*|SGCD_ENST00000517913.1_Nonsense_Mutation_p.Q87* NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 86 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGAATTCTTACAACCTCTCTA 0.408000 18 10 0 0 0.006122 0 0 APOB 338 broad.mit.edu 37 2 21250788 21250788 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:21250788A>G ENST00000233242.1 - 14 2106 c.1979T>C c.(1978-1980)aTa>aCa p.I660T APOB_ENST00000399256.4_Missense_Mutation_p.I660T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 660 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGATCAAATATAAGATTCCC 0.413000 95 73 0 0 0.014410 0 0 TCF12 6938 broad.mit.edu 37 15 57511745 57511745 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:57511745G>T ENST00000343827.3 + 1 82 c.26G>T c.(25-27)gGa>gTa p.G9V TCF12_ENST00000438423.2_Intron|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000543579.1_Missense_Mutation_p.G9V|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Intron NM_207040.1 NP_996923.1 Q99081 HTF4_HUMAN transcription factor 12 0 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CCTGTCCCTGGAATGGGCAGC 0.373000 T TEC extraskeletal myxoid chondrosarcoma 26 23 4.22769e-11 5.16333e-11 0.006320 1 0 GLTSCR1L 23506 broad.mit.edu 37 6 42796933 42796933 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:42796933C>G ENST00000314073.5 + 6 1038 c.862C>G c.(862-864)Caa>Gaa p.Q288E GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.Q288E GLTSCR1-like CACAAATTTTCAAACATCTTT 0.413000 24 83 0 0 0.014323 0 0 SLC9C2 284525 broad.mit.edu 37 1 173494064 173494064 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:173494064G>T ENST00000367714.3 - 20 2790 c.2368C>A c.(2368-2370)Ctc>Atc p.L790I SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 790 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TGCTCCATGAGTACTACAGCA 0.348000 39 57 5.44703e-19 7.65667e-19 0.009718 1 0 IL7R 3575 broad.mit.edu 37 5 35873614 35873614 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:35873614C>A ENST00000303115.3 + 5 699 c.570C>A c.(568-570)ctC>ctA p.L190L IL7R_ENST00000343305.4_Silent_p.L190L|IL7R_ENST00000506850.1_Silent_p.L190L NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 190 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AGCTGACACTCCTGCAGAGAA 0.428000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 20 49 1.10513e-12 1.40739e-12 0.014323 1 0 NUDT22 84304 broad.mit.edu 37 11 63994328 63994328 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:63994328G>T ENST00000279206.3 + 2 360 c.204G>T c.(202-204)ctG>ctT p.L68L NUDT22_ENST00000441250.2_Silent_p.L68L NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 68 hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 CAGCCACCCTGGCGCCTATTG 0.662000 51 65 1.39843e-22 2.05431e-22 0.014410 1 0 MYH7 4625 broad.mit.edu 37 14 23885394 23885394 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:23885394A>T ENST00000355349.3 - 34 4934 c.4772T>A c.(4771-4773)cTg>cAg p.L1591Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1591 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L1591Q(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CACCACCCGCAGGTGGTTGCG 0.607000 68 50 0 0 0.014410 0 0 SUPT20H 55578 broad.mit.edu 37 13 37598567 37598567 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:37598567C>T ENST00000360252.4 - 18 1592 c.1345G>A c.(1345-1347)Gtg>Atg p.V449M SUPT20H_ENST00000464744.1_Missense_Mutation_p.V449M|SUPT20H_ENST00000356185.3_Missense_Mutation_p.V449M|SUPT20H_ENST00000475892.1_Missense_Mutation_p.V448M|SUPT20H_ENST00000350612.6_Missense_Mutation_p.V448M|SUPT20H_ENST00000542180.1_Missense_Mutation_p.V412M NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) TGAACTGACACGGTTTCAGTT 0.358000 13 14 0 0 0.016723 0 0 KIAA1109 84162 broad.mit.edu 37 4 123145791 123145791 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:123145791G>T ENST00000264501.4 + 23 3125 c.2752G>T c.(2752-2754)Gtg>Ttg p.V918L KIAA1109_ENST00000388738.3_Missense_Mutation_p.V918L|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V918L Q2LD37 K1109_HUMAN KIAA1109 918 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTAATTGATGTGCAGGCTGG 0.448000 29 13 1.99505e-19 2.83107e-19 0.012213 1 0 GLI2 2736 broad.mit.edu 37 2 121747030 121747030 + Silent SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:121747030T>C ENST00000452319.1 + 14 3600 c.3540T>C c.(3538-3540)ttT>ttC p.F1180F GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.F1180F P10070 GLI2_HUMAN GLI family zinc finger 2 1180 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGCCTGCCTTTGGCCAGTACC 0.687000 30 31 0 0 0.008361 0 0 FMR1NB 158521 broad.mit.edu 37 X 147062985 147062985 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:147062985G>T ENST00000370467.3 + 1 137 c.63G>T c.(61-63)gtG>gtT p.V21V NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 21 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) CCATGCGTGTGGCTCACTTAG 0.597000 41 18 6.04917e-29 9.3471e-29 0.006999 1 0 SEC22A 26984 broad.mit.edu 37 3 122942427 122942427 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:122942427G>T ENST00000309934.4 + 2 1100 c.204G>T c.(202-204)gtG>gtT p.V68V SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Silent_p.V68V NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 68 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) CTCTGGGAGTGAGCTACATGA 0.353000 57 81 7.89702e-26 1.19371e-25 0.014410 1 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032303 46032303 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:46032303C>G ENST00000334662.2 + 1 308 c.286C>G c.(286-288)Cct>Gct p.P96A TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 96 19 X 5 AA repeats of C-C-X(3). keratin filament p.P96A(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 CTCCTGCACACCTTCATGCTG 0.662000 27 111 0 0 0.006320 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33604900 33604900 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:33604900G>T ENST00000321505.4 + 10 3708 c.3528G>T c.(3526-3528)ccG>ccT p.P1176P KIAA1549L_ENST00000265654.5_Silent_p.P1182P|KIAA1549L_ENST00000389726.3_Silent_p.P1182P KIAA1549-like TGAAGAACCCGCCCAATAACC 0.567000 9 4 0.00448238 0.00463342 0.004482 1 0 PIEZO2 63895 broad.mit.edu 37 18 10672856 10672856 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr18:10672856C>A ENST00000302079.6 - 50 7647 c.7648G>T c.(7648-7650)Gat>Tat p.D2550Y PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2638Y|PIEZO2_ENST00000285141.4_Missense_Mutation_p.D405Y|PIEZO2_ENST00000503781.3_Missense_Mutation_p.D2613Y|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D570Y Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2613 integral to membrane ion channel activity ATGGTAATATCCATGAAATTA 0.353000 32 23 1.62565e-12 2.06523e-12 0.012213 1 0 TOX 9760 broad.mit.edu 37 8 59720703 59720703 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:59720703G>A ENST00000361421.1 - 8 1738 c.1518C>T c.(1516-1518)gaC>gaT p.D506D NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 506 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CGTTATTCCAGTCCACCGGTT 0.527000 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 57 0 0 0.010729 0 0 GPN1 11321 broad.mit.edu 37 2 27873054 27873054 + Missense_Mutation SNP G G A rs35943531 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:27873054G>A ENST00000264718.3 + 14 1175 c.1154G>A c.(1153-1155)aGa>aAa p.R385K GPN1_ENST00000458167.2_Missense_Mutation_p.R276K|GPN1_ENST00000407583.3_Missense_Mutation_p.R359K|GPN1_ENST00000515877.1_Missense_Mutation_p.R292K|GPN1_ENST00000503738.1_Missense_Mutation_p.R276K|GPN1_ENST00000424214.1_Missense_Mutation_p.R292K NM_007266.3 NP_009197.2 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 371 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 TACTGGAAGAGAAACAATAAA 0.408000 20 31 0 0 0.014323 0 0 HRNR 388697 broad.mit.edu 37 1 152191718 152191718 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:152191718G>C ENST00000368801.2 - 3 2462 c.2387C>G c.(2386-2388)tCt>tGt p.S796C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 796 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTGTGCCAGACCCGTGTTG 0.602000 34 45 0 0 0.013726 0 0 COL5A1 1289 broad.mit.edu 37 9 137688242 137688242 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:137688242C>T ENST00000371817.3 + 35 3236 c.2822C>T c.(2821-2823)cCa>cTa p.P941L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 941 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGTGACGGCCCAGCTGGCCCT 0.582000 60 25 0 0 0.014410 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5182283 5182283 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:5182283G>A ENST00000274181.7 + 4 766 c.628G>A c.(628-630)Gag>Aag p.E210K ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E210K NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 210 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GAGATCCACAGAGCCCCATGC 0.592000 12 51 0 0 0.013537 0 0 GPR4 2828 broad.mit.edu 37 19 46094750 46094750 + Silent SNP G G A rs144692714 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:46094750G>A ENST00000323040.4 - 2 1319 c.375C>T c.(373-375)ttC>ttT p.F125F OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 125 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GCAGGCGGGCGAAGCGGAGTG 0.642000 17 81 0 0 0.006122 0 0 DENND4B 9909 broad.mit.edu 37 1 153905780 153905780 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:153905780C>T ENST00000361217.4 - 21 3764 c.3346G>A c.(3346-3348)Ggc>Agc p.G1116S NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1116 Ser-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CACTCACTGCCCAGAGAGGCT 0.562000 9 9 0 0 0.004482 0 0 ZNF365 22891 broad.mit.edu 37 10 64136310 64136310 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:64136310G>A ENST00000395254.3 + 2 638 c.358G>A c.(358-360)Gag>Aag p.E120K ZNF365_ENST00000410046.3_Missense_Mutation_p.E120K|ZNF365_ENST00000395255.3_Missense_Mutation_p.E120K|ZNF365_ENST00000466727.1_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) GGTGGTGGCAGAGAGGCCTGT 0.542000 12 75 0 0 0.013537 0 0 HERC5 51191 broad.mit.edu 37 4 89410315 89410315 + Splice_Site SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:89410315A>G ENST00000264350.3 + 16 2115 c.e16-1 HERC5_ENST00000508159.1_Splice_Site NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CTGTTTTCCTAGAGTAAAAAA 0.378000 22 77 0 0 0.014323 0 0 OR2G6 391211 broad.mit.edu 37 1 248685669 248685669 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:248685669G>A ENST00000343414.4 + 1 754 c.722G>A c.(721-723)tGt>tAt p.C241Y NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTGGGACCTGTTCGTCTCAC 0.458000 28 72 0 0 0.006320 0 0 EIF1AD 84285 broad.mit.edu 37 11 65766116 65766116 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:65766116T>A ENST00000312234.2 - 6 786 c.452A>T c.(451-453)cAg>cTg p.Q151L EIF1AD_ENST00000527249.1_Missense_Mutation_p.Q151L|EIF1AD_ENST00000533544.1_Missense_Mutation_p.Q151L|EIF1AD_ENST00000526451.1_Missense_Mutation_p.Q151L|EIF1AD_ENST00000525767.1_Missense_Mutation_p.Q99L NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3 NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2 Q8N9N8 EIF1A_HUMAN eukaryotic translation initiation factor 1A domain containing 151 nucleus translation initiation factor activity lung(5) 5 CTCATGATACTGTCTGCGGTT 0.527000 103 184 0 0 0.014410 0 0 CEP135 9662 broad.mit.edu 37 4 56819337 56819337 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:56819337T>A ENST00000257287.4 + 3 324 c.200T>A c.(199-201)gTt>gAt p.V67D CEP135_ENST00000422247.2_Missense_Mutation_p.V67D NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 67 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TTTGATTTTGTTTTGGAACCC 0.338000 21 87 0 0 0.008871 0 0 CORO2B 10391 broad.mit.edu 37 15 69006979 69006979 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:69006979C>A ENST00000543950.1 + 7 1186 c.832C>A c.(832-834)Cac>Aac p.H278N CORO2B_ENST00000540068.1_Missense_Mutation_p.H278N|CORO2B_ENST00000261861.5_Missense_Mutation_p.H278N|CORO2B_ENST00000566799.1_Missense_Mutation_p.H283N NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 283 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGCTGACACCCACATGCTCTA 0.612000 82 111 6.03386e-27 9.24128e-27 0.014410 1 0 OR2AK2 391191 broad.mit.edu 37 1 248129013 248129013 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:248129013C>A ENST00000366480.3 + 1 479 c.380C>A c.(379-381)gCc>gAc p.A127D OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGAACTGAAGCCCTTCTCCTT 0.443000 56 215 1.55088e-19 2.2098e-19 0.014410 1 0 ST18 9705 broad.mit.edu 37 8 53085051 53085051 + Nonsense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:53085051C>A ENST00000276480.7 - 10 1053 c.370G>T c.(370-372)Gag>Tag p.E124* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 124 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACCATGAGCTCTTGATAACAA 0.358000 27 22 7.38237e-10 8.79978e-10 0.006320 1 0 IGLV11-55 28770 broad.mit.edu 37 22 22556286 22556286 + RNA SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:22556286G>A ENST00000390286.2 + 0 112 TGCATCCCCGGGAGCAACAGC 0.617000 OREG0026354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 11 0 0 0.007291 0 0 MUC5AC 4586 broad.mit.edu 37 11 1162305 1162305 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:1162305C>T ENST00000356191.2 + 20 1805 c.1805C>T c.(1804-1806)gCc>gTc p.602_602insV mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) ACCCAGGCCGCCTGCCCCAAC 0.642000 15 8 0 0 0.004007 0 0 JPH3 57338 broad.mit.edu 37 16 87678547 87678547 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:87678547G>T ENST00000284262.2 + 2 1308 c.1066G>T c.(1066-1068)Gcc>Tcc p.A356S NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 356 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CCCCCTGCGGGCCAGCAAGAT 0.652000 9 31 5.4927e-09 6.40815e-09 0.004482 1 0 TP53BP1 7158 broad.mit.edu 37 15 43749011 43749011 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:43749011T>C ENST00000263801.3 - 12 2032 c.1780A>G c.(1780-1782)Agg>Ggg p.R594G TP53BP1_ENST00000450115.2_Missense_Mutation_p.R599G|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R599G|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R599G NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 594 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ATGTCATCCCTGGTGTCTGTA 0.438000 Other conserved DNA damage response genes 57 81 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237955573 237955573 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:237955573C>G ENST00000366574.2 + 94 14049 c.13732C>G c.(13732-13734)Ctg>Gtg p.L4578V RYR2_ENST00000360064.6_Missense_Mutation_p.L4584V|RYR2_ENST00000542537.1_Missense_Mutation_p.L4562V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4578 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTAGCTATTCTGCACACGGT 0.478000 11 26 0 0 0.013537 0 0 AFM 173 broad.mit.edu 37 4 74357791 74357791 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:74357791C>A ENST00000226355.3 + 8 1139 c.1046C>A c.(1045-1047)aCc>aAc p.T349N NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 349 Albumin 2. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GACCCAGACACCTTCTTTGCG 0.333000 29 41 1.16021e-09 1.37199e-09 0.007291 1 0 COPB2 9276 broad.mit.edu 37 3 139092571 139092571 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:139092571C>A ENST00000333188.5 - 8 1012 c.831G>T c.(829-831)gtG>gtT p.V277V COPB2_ENST00000507777.1_Silent_p.V248V NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 277 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TTAGACTGGCCACGCACCATA 0.438000 12 75 1.08611e-07 1.23669e-07 0.010729 1 0 BACH2 60468 broad.mit.edu 37 6 90642332 90642332 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:90642332G>T ENST00000257749.4 - 9 3028 c.2321C>A c.(2320-2322)gCg>gAg p.A774E BACH2_ENST00000343122.3_Missense_Mutation_p.A774E|BACH2_ENST00000537989.1_Missense_Mutation_p.A774E NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 774 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGGGGGAGCCGCGCCTGGCTC 0.632000 20 50 5.03518e-11 6.128e-11 0.007413 1 0 MATN1 4146 broad.mit.edu 37 1 31188132 31188132 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:31188132A>T ENST00000373765.4 - 6 1267 c.1232T>A c.(1231-1233)gTg>gAg p.V411E NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 411 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) GGCATTGCCCACACCCACAGC 0.552000 28 15 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179592877 179592877 + Silent SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179592877T>A ENST00000589042.1 - 67 19898 c.19674A>T c.(19672-19674)gtA>gtT p.V6558V TTN_ENST00000342992.6_Silent_p.V5314V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.V6241V|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6241 Ig-like 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCTCCTGCTACATTTGACA 0.373000 9 24 0 0 0.004482 0 0 TCF20 6942 broad.mit.edu 37 22 42565869 42565869 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr22:42565869C>A ENST00000359486.3 - 3 5919 c.5783G>T c.(5782-5784)aGg>aTg p.R1928M TCF20_ENST00000404876.1_Missense_Mutation_p.R229M|TCF20_ENST00000335626.4_Missense_Mutation_p.R1928M NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1928 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 CTTAGGGCACCTCACCGAGAA 0.547000 OREG0026603 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 10 0.00498961 0.00513738 0.004990 1 0 OTUD7A 161725 broad.mit.edu 37 15 31776342 31776342 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:31776342G>A ENST00000382902.1 - 11 2049 c.1957C>T c.(1957-1959)Cgg>Tgg p.R653W OTUD7A_ENST00000307050.4_Missense_Mutation_p.R646W Q8TE49 OTU7A_HUMAN OTU domain containing 7A 646 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) AACTGGTGCCGGTGGCTGGTG 0.662000 4 21 0 0 0.009096 0 0 CHD7 55636 broad.mit.edu 37 8 61655063 61655063 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:61655063G>T ENST00000423902.2 + 2 1551 c.1072G>T c.(1072-1074)Ggt>Tgt p.G358C CHD7_ENST00000524602.1_Missense_Mutation_p.G358C|CHD7_ENST00000525508.1_Missense_Mutation_p.G358C NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 358 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) ATCAAACAGTGGTCAAGGACT 0.448000 16 46 2.35188e-11 2.88251e-11 0.006122 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57871338 57871338 + Silent SNP C C T rs61740924 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:57871338C>T ENST00000393797.2 - 7 1065 c.873G>A c.(871-873)gaG>gaA p.E291E ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000430041.2_Silent_p.E36E|ARHGAP9_ENST00000424809.2_Silent_p.E220E|ARHGAP9_ENST00000550288.1_Silent_p.E299E|ARHGAP9_ENST00000393791.3_Silent_p.E220E|ARHGAP9_ENST00000356411.2_Silent_p.E220E Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 220 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CCAGGTGCTGCTCCCAGGCAT 0.647000 41 47 0 0 0.006999 0 0 PGM2L1 283209 broad.mit.edu 37 11 74056626 74056626 + Nonsense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:74056626C>T ENST00000298198.4 - 9 1417 c.1106G>A c.(1105-1107)tGg>tAg p.W369* NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 369 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) ATTTTTCTTCCAGCAATCAAA 0.378000 27 58 0 0 0.006320 0 0 C12orf52 84934 broad.mit.edu 37 12 113624489 113624489 + Splice_Site SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:113624489G>A ENST00000552495.1 + 2 482 c.8_splice c.e2-1 p.E4_splice C12orf52_ENST00000549621.1_5'UTR|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000548278.1_5'UTR Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 0 negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 CTCTCACAGGGAGCCTCGGAA 0.597000 5 10 0 0 0.014758 0 0 DNAH11 8701 broad.mit.edu 37 7 21760398 21760398 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:21760398G>T ENST00000328843.6 + 45 7242 c.7211G>T c.(7210-7212)aGc>aTc p.S2404I DNAH11_ENST00000409508.3_Missense_Mutation_p.S2397I Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2404 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCTTCTGACAGCCCAAAAGAA 0.353000 Kartagener syndrome 4 6 0.00024832 0.000262942 0.009096 1 0 SEC16A 9919 broad.mit.edu 37 9 139370617 139370617 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:139370617C>G ENST00000313050.7 - 1 1524 c.1451G>C c.(1450-1452)aGt>aCt p.S484T SEC16A_ENST00000371706.3_Missense_Mutation_p.S306T|SEC16A_ENST00000431893.2_Missense_Mutation_p.S306T|SEC16A_ENST00000290037.6_Missense_Mutation_p.S306T NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 306 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GAACTGGTCACTCGGGGAGGA 0.557000 30 16 0 0 0.006320 0 0 ALDH1A1 216 broad.mit.edu 37 9 75526897 75526897 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:75526897C>T ENST00000297785.3 - 10 1231 c.1177G>A c.(1177-1179)Gag>Aag p.E393K NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 393 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ATGCGCATCTCATCTGTAACA 0.448000 9 58 0 0 0.006214 0 0 C10orf120 399814 broad.mit.edu 37 10 124458873 124458873 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:124458873G>A ENST00000329446.4 - 2 263 c.232C>T c.(232-234)Ccc>Tcc p.P78S NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 78 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TTTTCCAAGGGGGAGTATTTC 0.488000 15 60 0 0 0.004007 0 0 ATP2A2 488 broad.mit.edu 37 12 110784087 110784087 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:110784087G>A ENST00000395494.2 + 19 3423 c.2860G>A c.(2860-2862)Gag>Aag p.E954K ATP2A2_ENST00000539276.2_Missense_Mutation_p.E981K|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E981K P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 981 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TCTCATGGATGAGACGCTCAA 0.547000 21 57 0 0 0.010504 0 0 CPAMD8 27151 broad.mit.edu 37 19 17086925 17086925 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:17086925C>A ENST00000443236.1 - 16 1967 c.1936G>T c.(1936-1938)Ggg>Tgg p.G646W CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 599 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACAACCTCCCCAGGTTGGGTC 0.562000 19 7 1.37522e-17 1.87009e-17 0.007413 1 0 NR1H4 9971 broad.mit.edu 37 12 100897248 100897248 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:100897248A>T ENST00000188403.7 + 1 111 c.83A>T c.(82-84)gAa>gTa p.E28V NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000551379.1_Missense_Mutation_p.E28V|NR1H4_ENST00000392986.3_Intron NM_001206992.1|NM_001206993.1 NP_001193921.1|NP_001193922.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 28 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TTTTTCATGGAAATGATGAGT 0.458000 4 29 0 0 0.009096 0 0 UBAP2L 9898 broad.mit.edu 37 1 154241426 154241426 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:154241426G>A ENST00000428931.1 + 26 3331 c.3164G>A c.(3163-3165)gGc>gAc p.G1055D UBAP2L_ENST00000271877.7_Missense_Mutation_p.G1065D|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G1055D NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 1055 binding of sperm to zona pellucida protein binding p.G551V(1)|p.G1055V(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGCAGGATGGCCAGGTAATA 0.547000 48 71 0 0 0.014410 0 0 SORBS3 10174 broad.mit.edu 37 8 22421801 22421801 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:22421801C>T ENST00000240123.7 + 9 1064 c.681C>T c.(679-681)ctC>ctT p.L227L NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 227 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CGCAGGTGCTCAGACGCCGGG 0.592000 4 4 0 0 0.014758 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52912093 52912093 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:52912093C>G ENST00000371544.3 - 22 3797 c.3535G>C c.(3535-3537)Gga>Cga p.G1179R ZCCHC11_ENST00000257177.4_Missense_Mutation_p.G1179R NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1179 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GTGTTCTTTCCAAGTGAAGGT 0.333000 7 36 0 0 0.001984 0 0 PSG5 5673 broad.mit.edu 37 19 43689015 43689015 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:43689015C>T ENST00000404580.1 - 2 437 c.349G>A c.(349-351)Gca>Aca p.A117T PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.A117T|PSG5_ENST00000342951.6_Missense_Mutation_p.A117T|PSG5_ENST00000599812.1_Missense_Mutation_p.A117T|PSG5_ENST00000407568.1_Missense_Mutation_p.A117T|PSG5_ENST00000407356.1_Missense_Mutation_p.A117T Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 117 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TAGGATCCTGCGTCTTCCCGG 0.438000 347 289 0 0 0.014410 0 0 IGKV4-1 28908 broad.mit.edu 37 2 89185509 89185509 + RNA SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:89185509A>T ENST00000390243.2 + 0 378 AAACCAGGACAGCCTCCTAAG 0.537000 26 34 0 0 0.005443 0 0 SCN1A 6323 broad.mit.edu 37 2 166901764 166901764 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:166901764G>C ENST00000423058.2 - 10 1468 c.1451C>G c.(1450-1452)tCt>tGt p.S484C SCN1A_ENST00000375405.3_Missense_Mutation_p.S484C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S484C|SCN1A_ENST00000409050.1_Missense_Mutation_p.S484C NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 484 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGAGGCTTCAGATGAGCTGTC 0.463000 35 142 0 0 0.012213 0 0 LIG4 3981 broad.mit.edu 37 13 108860939 108860939 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:108860939C>A ENST00000356922.4 - 2 2950 c.2678G>T c.(2677-2679)tGg>tTg p.W893L LIG4_ENST00000442234.1_Missense_Mutation_p.W893L|LIG4_ENST00000405925.1_Missense_Mutation_p.W893L NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 893 BRCT 2. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATCAGTTACCCAACTTTCTTT 0.343000 Non-homologous end-joining 9 26 3.86212e-05 4.15706e-05 0.008291 1 0 CAD 790 broad.mit.edu 37 2 27447744 27447744 + Splice_Site SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:27447744G>C ENST00000264705.4 + 10 1548 c.1386_splice c.e10+1 p.Q462_splice CAD_ENST00000403525.1_Splice_Site_p.Q462_splice NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 462 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) ATGTAACCCAGGTATGACTGG 0.517000 71 113 0 0 0.014410 0 0 ATG4A 115201 broad.mit.edu 37 X 107381362 107381362 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:107381362A>T ENST00000372232.3 + 9 914 c.755A>T c.(754-756)cAg>cTg p.Q252L ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.Q228L NM_052936.3 NP_443168.2 Q8WYN0 ATG4A_HUMAN autophagy related 4A, cysteine peptidase 252 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 AAGATGCCACAGTCTTTAGGG 0.448000 97 45 0 0 0.014410 0 0 CWF19L2 143884 broad.mit.edu 37 11 107260852 107260852 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:107260852T>A ENST00000282251.5 - 12 1847 c.1820A>T c.(1819-1821)aAg>aTg p.K607M CWF19L2_ENST00000433523.1_Missense_Mutation_p.K607M NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 607 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TGTTCCCATCTTTTCATTTTT 0.333000 18 26 0 0 0.007413 0 0 TOLLIP 54472 broad.mit.edu 37 11 1311491 1311491 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:1311491C>T ENST00000527886.1 - 3 505 c.125G>A c.(124-126)gGc>gAc p.G42D TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000263646.7_Missense_Mutation_p.G83D|TOLLIP_ENST00000542915.1_Missense_Mutation_p.G61D|TOLLIP_ENST00000317204.6_Missense_Mutation_p.G111D|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000525159.1_Intron Q9H0E2 TOLIP_HUMAN toll interacting protein 111 C2.|Gln-rich. cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) AGAGTCCACGCCTGGGGGCAC 0.617000 10 17 0 0 0.013537 0 0 EYA1 2138 broad.mit.edu 37 8 72128966 72128966 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:72128966C>A ENST00000340726.3 - 14 1960 c.1321G>T c.(1321-1323)Gta>Tta p.V441L EYA1_ENST00000388740.3_Missense_Mutation_p.V408L|EYA1_ENST00000419131.1_Missense_Mutation_p.V406L|EYA1_ENST00000303824.7_Missense_Mutation_p.V435L|EYA1_ENST00000388741.2_Missense_Mutation_p.V407L|EYA1_ENST00000388742.4_Missense_Mutation_p.V441L|EYA1_ENST00000388743.2_Missense_Mutation_p.V440L NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 441 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ATCTCTTTTACCCGTCTGTAG 0.463000 15 66 3.32936e-07 3.74598e-07 0.006122 1 0 USP31 57478 broad.mit.edu 37 16 23079778 23079778 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:23079778C>T ENST00000219689.7 - 16 3647 c.3648G>A c.(3646-3648)aaG>aaA p.K1216K USP31_ENST00000567975.1_Silent_p.K509K NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1216 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) TGCTGTCCCTCTTCAAACCAG 0.622000 42 76 0 0 0.010771 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074381 46074381 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:46074381C>T ENST00000391618.1 - 1 195 c.151G>A c.(151-153)Ggg>Agg p.G51R TSPEAR_ENST00000323084.4_Intron NM_198698.1 NP_941971.1 P60329 KR124_HUMAN keratin associated protein 12-4 51 15 X 5 AA approximate repeats. keratin filament lung(4)|ovary(1)|prostate(1) 6 GTGGATACCCCACACAGGGGC 0.667000 6 34 0 0 0.001984 0 0 RLTPR 146206 broad.mit.edu 37 16 67682620 67682620 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:67682620A>G ENST00000334583.6 + 16 1800 c.1472A>G c.(1471-1473)cAc>cGc p.H491R RLTPR_ENST00000545661.1_Missense_Mutation_p.H455R NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 491 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTCAACACGCACCTCCGCGAC 0.682000 3 10 0 0 0.004672 0 0 PRDM9 56979 broad.mit.edu 37 5 23509619 23509619 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:23509619A>G ENST00000296682.3 + 3 292 c.110A>G c.(109-111)aAg>aGg p.K37R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 37 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TACTTCACCAAGGAAGAATGG 0.413000 HNSCC(3;0.000094) 75 108 0 0 0.014410 0 0 COL12A1 1303 broad.mit.edu 37 6 75861710 75861710 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:75861710C>A ENST00000322507.8 - 20 4182 c.3873G>T c.(3871-3873)agG>agT p.R1291S COL12A1_ENST00000416123.2_Missense_Mutation_p.R1291S|COL12A1_ENST00000345356.6_Missense_Mutation_p.R127S|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1291S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1291 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAGCTTGGGTCCTGAAGTTCT 0.433000 43 75 1.8453e-21 2.67312e-21 0.010771 1 0 GRIN2B 2904 broad.mit.edu 37 12 13720197 13720197 + Splice_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:13720197C>A ENST00000279593.3 - 12 2569 c.2359_splice c.e12-1 p.G787_splice NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 787 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTCCATCTCCCCTGGggaaag 0.468000 16 30 3.45872e-05 3.74216e-05 0.004007 1 0 SNAI1 6615 broad.mit.edu 37 20 48600455 48600455 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:48600455C>T ENST00000244050.2 + 2 238 c.177C>T c.(175-177)ctC>ctT p.L59L NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 59 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TGCCAATGCTCATCTGGGACT 0.652000 22 53 0 0 0.018920 0 0 ADH1B 125 broad.mit.edu 37 4 100235240 100235240 + Splice_Site SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:100235240T>A ENST00000305046.8 - 6 635 c.e6-2 ADH1B_ENST00000394887.3_Splice_Site P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TGGGGTGACCTGTGTTTTCAG 0.468000 27 126 0 0 0.008361 0 0 STAG2 10735 broad.mit.edu 37 X 123211828 123211828 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:123211828A>G ENST00000371160.1 + 27 2985 c.2695A>G c.(2695-2697)Atc>Gtc p.I899V STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.I899V|STAG2_ENST00000354548.5_Missense_Mutation_p.I830V|STAG2_ENST00000371145.3_Missense_Mutation_p.I899V|STAG2_ENST00000371157.3_Missense_Mutation_p.I899V|STAG2_ENST00000218089.9_Missense_Mutation_p.I899V Q8N3U4 STAG2_HUMAN stromal antigen 2 899 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CTATGGAGATATCATCAAAGA 0.308000 48 12 0 0 0.014410 0 0 UPF3A 65110 broad.mit.edu 37 13 115064400 115064400 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:115064400A>C ENST00000375299.3 + 8 988 c.932A>C c.(931-933)aAg>aCg p.K311T UPF3A_ENST00000351487.5_Missense_Mutation_p.K278T|UPF3A_ENST00000475218.2_3'UTR NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 311 mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GGAGGTGGCAAGCAGGAATCC 0.507000 5 14 0 0 0.014758 0 0 N6AMT1 29104 broad.mit.edu 37 21 30248748 30248748 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:30248748C>A ENST00000303775.5 - 6 629 c.604G>T c.(604-606)Ggc>Tgc p.G202C N6AMT1_ENST00000351429.3_Missense_Mutation_p.G174C NM_013240.4 NP_037372.3 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 (putative) 202 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2) 12 GTTTCTTGGCCTGCTTGTCTG 0.368000 20 77 1.00905e-13 1.30413e-13 0.008871 1 0 TRIP12 9320 broad.mit.edu 37 2 230670446 230670446 + Splice_Site SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:230670446T>A ENST00000283943.5 - 17 2603 c.2425_splice c.e17+1 p.S809_splice TRIP12_ENST00000389045.3_Splice_Site_p.S539_splice|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.S857_splice NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 809 WWE. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATGTACTTACTAGTGTTACTA 0.313000 15 27 0 0 0.004990 0 0 UNC79 57578 broad.mit.edu 37 14 94139751 94139751 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:94139751C>A ENST00000553484.1 + 43 7028 c.6874C>A c.(6874-6876)Cta>Ata p.L2292I UNC79_ENST00000256339.4_Missense_Mutation_p.L2093I|UNC79_ENST00000555664.1_Missense_Mutation_p.L2231I|UNC79_ENST00000393151.2_Missense_Mutation_p.L2270I Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2270 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCTGCAGGCCCTAAAGCTCAA 0.358000 20 92 3.6726e-16 4.90464e-16 0.021523 1 0 TCERG1 10915 broad.mit.edu 37 5 145838635 145838635 + Silent SNP T T C rs146198634 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:145838635T>C ENST00000296702.5 + 4 665 c.627T>C c.(625-627)gcT>gcC p.A209A TCERG1_ENST00000394421.2_Silent_p.A209A NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 209 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) aggctcaggctcaggcccagg 0.726000 8 28 0 0 0.010729 0 0 ASB4 51666 broad.mit.edu 37 7 95115331 95115331 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:95115331A>G ENST00000325885.5 + 1 119 c.48A>G c.(46-48)ttA>ttG p.L16L ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Silent_p.L16L NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 16 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CTGCCAAGTTAGTTAAGAGAA 0.448000 22 14 0 0 0.010504 0 0 NEDD4 4734 broad.mit.edu 37 15 56207620 56207620 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:56207620G>A ENST00000508342.1 - 1 1709 c.1410C>T c.(1408-1410)tcC>tcT p.S470S NEDD4_ENST00000338963.2_Silent_p.S470S|NEDD4_ENST00000506154.1_Silent_p.S470S|NEDD4_ENST00000435532.3_Intron P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 470 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GCTTAAGGCTGGATAGACAGG 0.373000 48 63 0 0 0.014410 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718410 103718410 + Silent SNP G G T rs142620512 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:103718410G>T ENST00000245312.3 - 1 786 c.190C>A c.(190-192)Cgg>Agg p.R64R NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 64 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CCCCACGGCCGCTTTATGTGC 0.527000 46 61 6.1207e-33 9.67255e-33 0.013114 1 0 SLC6A8 6535 broad.mit.edu 37 X 152956881 152956881 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:152956881G>A ENST00000253122.5 + 3 993 c.517G>A c.(517-519)Ggc>Agc p.G173S SLC6A8_ENST00000430077.2_Missense_Mutation_p.G58S NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 173 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) GGCCACATGTGGCCACACCTG 0.577000 65 19 0 0 0.014410 0 0 GABRA4 2557 broad.mit.edu 37 4 46967191 46967191 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:46967191C>A ENST00000264318.3 - 8 1912 c.930G>T c.(928-930)ttG>ttT p.L310F NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 310 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACACTTTGGGCAAAGAATGTC 0.438000 58 97 9.72345e-25 1.46132e-24 0.014410 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188374 140188374 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:140188374G>A ENST00000530339.1 + 1 1602 c.1602G>A c.(1600-1602)caG>caA p.Q534Q PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.Q534Q|PCDHA4_ENST00000356878.4_Silent_p.Q534Q|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGTTTCAGGTGACCGCTC 0.652000 44 29 0 0 0.014410 0 0 GPC6 10082 broad.mit.edu 37 13 95050795 95050795 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:95050795G>C ENST00000377047.4 + 8 1980 c.1365G>C c.(1363-1365)cgG>cgC p.R455R NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 455 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) ACATCACTCGGCCTGACACTT 0.468000 32 39 0 0 0.010818 0 0 MALAT1 378938 broad.mit.edu 37 11 65268041 65268041 + RNA SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:65268041G>C ENST00000534336.1 + 0 2809 NR_002819.2 AAGCTAGGAAGAAGGAAGGAG 0.512000 41 64 0 0 0.006999 0 0 CCRL2 9034 broad.mit.edu 37 3 46450106 46450106 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:46450106A>T ENST00000399036.3 + 2 888 c.536A>T c.(535-537)tAc>tTc p.Y179F ACKR5_ENST00000400882.2_Missense_Mutation_p.Y179F|ACKR5_ENST00000357392.4_Missense_Mutation_p.Y191F|ACKR5_ENST00000400880.3_Missense_Mutation_p.Y179F NM_003965.4 NP_003956.2 GACCAGAAATACAAGTGTGCA 0.453000 52 31 0 0 0.014410 0 0 XIRP1 165904 broad.mit.edu 37 3 39229781 39229781 + Missense_Mutation SNP C C G rs145699338 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:39229781C>G ENST00000340369.3 - 2 1384 c.1156G>C c.(1156-1158)Gaa>Caa p.E386Q XIRP1_ENST00000396251.1_Missense_Mutation_p.E386Q|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 386 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGCTTTGTTTCAAATAGCCAC 0.592000 90 52 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 114185986 114185986 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:114185986G>T ENST00000297405.5 - 4 918 c.674C>A c.(673-675)aCa>aAa p.T225K CSMD3_ENST00000455883.2_Missense_Mutation_p.T225K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T225K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T185K|CSMD3_ENST00000519485.1_5'UTR NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 225 Sushi 1. 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 CCACGAAGCTGTATTAACTGA 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 61 35 1.21705e-43 1.99589e-43 0.014410 1 0 MIR518E 574487 broad.mit.edu 37 19 54233176 54233176 + RNA SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:54233176G>A ENST00000385252.1 + 0 85 NR_030209.1 TTAACGCTTTGAGAAAAGCAA 0.423000 15 67 0 0 0.003163 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302220 128302220 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:128302220C>T ENST00000262462.4 + 1 1400 c.390C>T c.(388-390)tgC>tgT p.C130C SLC27A6_ENST00000506176.1_Silent_p.C130C|SLC27A6_ENST00000395266.1_Silent_p.C130C Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 130 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGCTGGGCTGCGTGGTGGCCT 0.587000 14 5 0 0 0.016723 0 0 PWP1 11137 broad.mit.edu 37 12 108082452 108082452 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:108082452G>C ENST00000412830.3 + 3 360 c.192G>C c.(190-192)caG>caC p.Q64H PWP1_ENST00000541166.1_Missense_Mutation_p.Q2H NM_007062.1 NP_008993.1 Q13610 PWP1_HUMAN PWP1 homolog (S. cerevisiae) 64 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 ATGGCATGCAGAGTGCACGCA 0.527000 38 26 0 0 0.005524 0 0 ELTD1 64123 broad.mit.edu 37 1 79383546 79383546 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:79383546G>T ENST00000370742.3 - 11 1714 c.1651C>A c.(1651-1653)Cta>Ata p.L551I NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 551 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CTGTATCCTAGTGCTGCCGAA 0.358000 33 112 9.04072e-19 1.26231e-18 0.015359 1 0 TEX13A 56157 broad.mit.edu 37 X 104464181 104464181 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:104464181G>T ENST00000372578.3 - 3 808 c.697C>A c.(697-699)Ctg>Atg p.L233M TEX13A_ENST00000413579.1_Missense_Mutation_p.A232D|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L233M NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 0 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CATGGAGGCAGCCCTGGCCTC 0.617000 16 5 6.31663e-08 7.23188e-08 0.003163 1 0 LENG8 114823 broad.mit.edu 37 19 54969281 54969281 + Splice_Site SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:54969281G>T ENST00000326764.5 + 14 2381 c.e14-1 LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CTGCCTTCCAGGGTGACCATG 0.617000 64 40 1.65906e-26 2.53724e-26 0.014410 1 0 NLRP12 91662 broad.mit.edu 37 19 54312974 54312974 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:54312974G>T ENST00000324134.6 - 3 2107 c.1939C>A c.(1939-1941)Cac>Aac p.H647N NLRP12_ENST00000391773.1_Missense_Mutation_p.H647N|NLRP12_ENST00000535162.1_Missense_Mutation_p.H647N|NLRP12_ENST00000354278.3_Missense_Mutation_p.H647N|NLRP12_ENST00000351894.4_Missense_Mutation_p.H647N|NLRP12_ENST00000391772.1_Missense_Mutation_p.H647N|NLRP12_ENST00000391775.3_Missense_Mutation_p.H647N|NLRP12_ENST00000345770.5_Missense_Mutation_p.H647N NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 647 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GAGACCATGTGCTCCATCTTG 0.602000 41 31 1.07121e-22 1.57584e-22 0.006999 1 0 PCDH9 5101 broad.mit.edu 37 13 67205540 67205540 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:67205540G>T ENST00000544246.1 - 4 3833 c.3142C>A c.(3142-3144)Cag>Aag p.Q1048K PCDH9_ENST00000377865.2_Missense_Mutation_p.Q1048K|PCDH9_ENST00000328454.5_Missense_Mutation_p.Q1014K|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q1014K NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1048 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACACGGCGCTGCGACTACAAA 0.483000 26 22 4.72057e-08 5.42242e-08 0.021523 1 0 KDM2A 22992 broad.mit.edu 37 11 66948816 66948816 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:66948816G>T ENST00000529006.2 + 4 653 c.207G>T c.(205-207)cgG>cgT p.R69R KDM2A_ENST00000398645.2_Silent_p.R69R NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 69 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ATATTCAGCGGGGTGGCTTGA 0.368000 9 17 9.70103e-10 1.15373e-09 0.008291 1 0 NAV3 89795 broad.mit.edu 37 12 78542637 78542637 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:78542637C>A ENST00000397909.2 + 22 4896 c.4723C>A c.(4723-4725)Cgg>Agg p.R1575R NAV3_ENST00000228327.6_Silent_p.R1575R|NAV3_ENST00000266692.7_Silent_p.R1398R|NAV3_ENST00000536525.2_Silent_p.R1575R Q8IVL0 NAV3_HUMAN neuron navigator 3 1575 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.R1575G(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCATAAACTGCGGAGAGAGCT 0.333000 HNSCC(70;0.22) 9 18 3.86212e-05 4.15706e-05 0.008291 1 0 PDE3B 5140 broad.mit.edu 37 11 14825594 14825594 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:14825594C>G ENST00000282096.4 + 5 1873 c.1520C>G c.(1519-1521)gCt>gGt p.A507G PDE3B_ENST00000455098.2_Missense_Mutation_p.A456G NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 507 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTCAGAAGAGCTGGTAAGAAA 0.358000 16 9 0 0 0.003163 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 50 0 0 0.009096 0 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199914 26199914 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:26199914A>T ENST00000359985.1 + 1 167 c.128A>T c.(127-129)tAc>tTc p.Y43F NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 43 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) GTGTACGTGTACAAGGTGCTA 0.552000 206 73 0 0 0.014410 0 0 MAP6 4135 broad.mit.edu 37 11 75379385 75379385 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:75379385G>T ENST00000434603.2 - 1 94 c.30C>A c.(28-30)tgC>tgA p.C10* MAP6_ENST00000526740.1_Intron|MAP6_ENST00000304771.3_Nonsense_Mutation_p.C10* NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 10 Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GGGCGATGCAGCAGGCCCTCG 0.582000 24 56 2.21704e-12 2.80627e-12 0.016522 1 0 REG3A 5068 broad.mit.edu 37 2 79385793 79385793 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:79385793G>T ENST00000393878.1 - 2 433 c.179C>A c.(178-180)tCc>tAc p.S60Y REG3A_ENST00000409839.3_Missense_Mutation_p.S60Y|REG3A_ENST00000305165.2_Missense_Mutation_p.S60Y|AC011754.1_ENST00000415201.1_RNA NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 60 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ATCTGTCCAGGATTTTGGTGA 0.552000 27 56 3.73808e-20 5.37028e-20 0.005443 1 0 KAZN 23254 broad.mit.edu 37 1 15392292 15392292 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:15392292G>A ENST00000422387.2 + 8 1546 c.1265G>A c.(1264-1266)tGa>tAa p.*422* KAZN_ENST00000400797.3_Silent_p.*328*|KAZN_ENST00000376030.2_Intron|KAZN_ENST00000361144.5_Silent_p.*416*|KAZN_ENST00000503743.1_Silent_p.*422*|KAZN_ENST00000400798.2_Silent_p.*328* NM_015209.2 NP_056024.1 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 0 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 GCGGACTGGTGATACGCGCTC 0.667000 65 26 0 0 0.014410 0 0 EPRS 2058 broad.mit.edu 37 1 220161972 220161972 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:220161972C>A ENST00000366923.3 - 19 3004 c.2735G>T c.(2734-2736)gGg>gTg p.G912V NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 912 3 X 57 AA approximate repeats.|WHEP-TRS 3. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AACTACTTCCCCTTGAGAAGC 0.368000 15 50 1.05317e-09 1.24825e-09 0.020292 1 0 MOCS1 4337 broad.mit.edu 37 6 39895315 39895315 + Translation_Start_Site SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:39895315C>T ENST00000373186.4 - 1 140 c.3G>A c.(1-3)atG>atA p.M1I MOCS1_ENST00000425303.2_Start_Codon_SNP_p.M1I|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000373175.4_Start_Codon_SNP_p.M1I|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000340692.5_Intron|MOCS1_ENST00000432280.2_Start_Codon_SNP_p.M1I NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 0 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) AACTCTTCCACATGTTTGGGC 0.572000 6 21 0 0 0.003080 0 0 TP53I13 90313 broad.mit.edu 37 17 27899013 27899013 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:27899013G>A ENST00000301057.7 + 5 566 c.451G>A c.(451-453)Ggg>Agg p.G151R RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 151 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) AAGCCTTTCAGGGCCTGCTCC 0.637000 33 12 0 0 0.017118 0 0 GRIA2 2891 broad.mit.edu 37 4 158281227 158281227 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:158281227C>A ENST00000296526.7 + 13 2548 c.2223C>A c.(2221-2223)acC>acA p.T741T GRIA2_ENST00000393815.2_Silent_p.T694T|GRIA2_ENST00000507898.1_Silent_p.T694T|GRIA2_ENST00000264426.9_Silent_p.T741T|GRIA2_ENST00000449365.1_Silent_p.T694T NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 741 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CTTGCGACACCATGAAAGTTG 0.468000 17 30 5.3912e-06 5.96924e-06 0.006122 1 0 TTN 7273 broad.mit.edu 37 2 179614607 179614607 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179614607C>A ENST00000360870.5 - 46 12742 c.12520G>T c.(12520-12522)Gat>Tat p.D4174Y TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3518 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGATGGAATCCCCTTCTCTA 0.373000 28 21 2.12542e-12 2.69685e-12 0.006320 1 0 NRP2 8828 broad.mit.edu 37 2 206659563 206659563 + Silent SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:206659563G>C ENST00000360409.3 + 17 3368 c.2577G>C c.(2575-2577)ctG>ctC p.L859L NRP2_ENST00000540178.1_Silent_p.L854L|NRP2_ENST00000412873.2_Silent_p.L837L|NRP2_ENST00000540841.1_Silent_p.L837L|NRP2_ENST00000357785.5_Silent_p.L854L NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 859 angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 AGAGCTGGCTGTACACCCTGG 0.562000 28 47 0 0 0.006320 0 0 PTPRC 5788 broad.mit.edu 37 1 198721885 198721885 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:198721885C>T ENST00000367376.2 + 31 3658 c.3487C>T c.(3487-3489)Cta>Tta p.L1163L PTPRC_ENST00000442510.2_Silent_p.L1165L|PTPRC_ENST00000352140.3_Silent_p.L1115L|PTPRC_ENST00000348564.6_Silent_p.L1004L|PTPRC_ENST00000594404.1_Silent_p.L1002L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1163 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 GAGTACACCTCTACTCATTCA 0.418000 8 50 0 0 0.006214 0 0 BRDT 676 broad.mit.edu 37 1 92469992 92469992 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:92469992G>A ENST00000370389.2 + 17 3115 c.2191G>A c.(2191-2193)Gat>Aat p.D731N BRDT_ENST00000394530.3_Missense_Mutation_p.D758N|BRDT_ENST00000362005.3_Missense_Mutation_p.D804N|BRDT_ENST00000399546.2_Missense_Mutation_p.D804N|BRDT_ENST00000402388.1_Missense_Mutation_p.D804N NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 804 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TAAGAATGCAGATTCATGGAA 0.328000 25 70 0 0 0.018920 0 0 CATSPERD 257062 broad.mit.edu 37 19 5778498 5778498 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:5778498C>A ENST00000381624.3 + 22 2269 c.2208C>A c.(2206-2208)tcC>tcA p.S736S CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 736 integral to membrane TCCTGGGGTCCGTTTGGCTGG 0.567000 55 26 1.57914e-17 2.1418e-17 0.014410 1 0 ACAD10 80724 broad.mit.edu 37 12 112184050 112184050 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:112184050C>T ENST00000455480.2 + 15 2488 c.2311C>T c.(2311-2313)Ctg>Ttg p.L771L ACAD10_ENST00000392636.2_Silent_p.L342L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Silent_p.L740L NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 740 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 ATATGCACATCTGTGTGAGCT 0.473000 40 52 0 0 0.008740 0 0 FNBP4 23360 broad.mit.edu 37 11 47765513 47765513 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:47765513C>G ENST00000263773.5 - 8 1460 c.1448G>C c.(1447-1449)gGa>gCa p.G483A FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 483 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 ACCAGTTTCTCCATTTTCTGG 0.378000 16 26 0 0 0.004990 0 0 KRT74 121391 broad.mit.edu 37 12 52960812 52960812 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:52960812T>C ENST00000549343.1 - 10 1611 c.1573A>G c.(1573-1575)Aag>Gag p.K525E KRT74_ENST00000305620.2_Missense_Mutation_p.K511E Q7RTS7 K2C74_HUMAN keratin 74 511 Tail. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) TGGGTGTCCTTGAGGTCTCCC 0.652000 50 78 0 0 0.014410 0 0 ZNF483 158399 broad.mit.edu 37 9 114305100 114305100 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:114305100C>T ENST00000309235.5 + 6 2043 c.1885C>T c.(1885-1887)Cat>Tat p.H629Y ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 629 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 TCAAAGACTTCATTCAGGAGA 0.398000 36 13 0 0 0.013726 0 0 MYH6 4624 broad.mit.edu 37 14 23857516 23857516 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:23857516C>T ENST00000405093.3 - 30 4277 c.4207G>A c.(4207-4209)Gag>Aag p.E1403K MYH6_ENST00000356287.3_Missense_Mutation_p.E1403K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1403 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ACGGCCTCCTCGGCATCCTGC 0.592000 31 27 0 0 0.012213 0 0 TNS1 7145 broad.mit.edu 37 2 218700815 218700815 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:218700815C>A ENST00000171887.4 - 18 3204 c.2752G>T c.(2752-2754)Gtt>Ttt p.V918F TNS1_ENST00000419504.1_Missense_Mutation_p.V918F|TNS1_ENST00000430930.1_Missense_Mutation_p.V918F NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 918 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGGAGCGAACCCCAGGGCTA 0.627000 20 54 8.34094e-07 9.34436e-07 0.008871 1 0 FERMT3 83706 broad.mit.edu 37 11 63974906 63974906 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:63974906G>C ENST00000279227.5 + 2 165 c.70G>C c.(70-72)Gag>Cag p.E24Q FERMT3_ENST00000345728.5_Missense_Mutation_p.E24Q NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 24 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GTTTGTGGGAGAGGAGGACCC 0.627000 16 60 0 0 0.004007 0 0 DOK7 285489 broad.mit.edu 37 4 3478183 3478183 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:3478183C>A ENST00000340083.5 + 4 511 c.446C>A c.(445-447)aCg>aAg p.T149K DOK7_ENST00000507039.1_Missense_Mutation_p.T149K|DOK7_ENST00000389653.2_Missense_Mutation_p.T149K NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 149 IRS-type PTB. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCGGCTGTCACGGGGCAGTGG 0.627000 35 57 5.73237e-09 6.68029e-09 0.006230 1 0 BPIFB6 128859 broad.mit.edu 37 20 31624324 31624324 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr20:31624324C>T ENST00000349552.1 + 7 651 c.651C>T c.(649-651)taC>taT p.Y217Y NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 217 extracellular region lipid binding CAGCCAGCTACATCCAACTGG 0.577000 77 115 0 0 0.014410 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24242198 24242198 + Silent SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:24242198T>C ENST00000382263.3 + 8 1000 c.816T>C c.(814-816)caT>caC p.H272H TNFRSF19_ENST00000403372.2_Silent_p.H140H|TNFRSF19_ENST00000382258.4_Silent_p.H272H|TNFRSF19_ENST00000248484.4_Silent_p.H272H NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 272 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) GTGGGGTGCATTCTGCAGCCA 0.522000 3 25 0 0 0.004672 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179320253 179320253 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:179320253C>A ENST00000356834.3 - 5 829 c.792G>T c.(790-792)ctG>ctT p.L264L TBC1D9B_ENST00000355235.3_Silent_p.L264L NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 264 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGGCCTAGGCAGGGCCTTGT 0.637000 23 12 1.87028e-06 2.07964e-06 0.012319 1 0 OR14C36 127066 broad.mit.edu 37 1 248512378 248512378 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:248512378T>C ENST00000317861.1 + 1 302 c.302T>C c.(301-303)cTc>cCc p.L101P NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CAGGTCTTCCTCGTGGTTTTT 0.488000 10 45 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179580249 179580249 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179580249G>T ENST00000589042.1 - 89 26116 c.25892C>A c.(25891-25893)gCc>gAc p.A8631D TTN_ENST00000342992.6_Missense_Mutation_p.A7387D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A8314D|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8314 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGCTGCTGGCACTGCCTGC 0.483000 35 27 4.14481e-20 5.9464e-20 0.006230 1 0 UGT2B4 7363 broad.mit.edu 37 4 70346572 70346572 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:70346572G>A ENST00000305107.6 - 6 1413 c.1367C>T c.(1366-1368)cCc>cTc p.P456L UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P320L NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 456 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TCGATCAAGGGGCTTCACTGG 0.418000 44 83 0 0 0.007835 0 0 RBMS3 27303 broad.mit.edu 37 3 29941231 29941231 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:29941231C>T ENST00000434693.2 + 10 1621 c.921C>T c.(919-921)taC>taT p.Y307Y RBMS3_ENST00000383766.2_Intron|RBMS3_ENST00000383767.2_Silent_p.Y308Y|RBMS3_ENST00000273139.9_Silent_p.Y308Y|RBMS3_ENST00000456853.1_Silent_p.Y321Y|RBMS3_ENST00000396583.3_Silent_p.Y321Y|RBMS3_ENST00000452462.1_Silent_p.Y308Y NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 308 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) ATCCGCCATACGTTATGCAAC 0.408000 14 57 0 0 0.003163 0 0 CCDC88A 55704 broad.mit.edu 37 2 55529052 55529052 + Missense_Mutation SNP T T G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:55529052T>G ENST00000436346.1 - 27 5469 c.4628A>C c.(4627-4629)aAc>aCc p.N1543T CCDC88A_ENST00000336838.6_Missense_Mutation_p.N1542T|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000413716.2_Missense_Mutation_p.N1542T|CCDC88A_ENST00000263630.8_Missense_Mutation_p.N1515T NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1543 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TGCAGAAGAGTTGACAGTTGA 0.398000 21 81 0 0 0.018920 0 0 ZDHHC16 84287 broad.mit.edu 37 10 99215370 99215370 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:99215370C>G ENST00000370846.4 + 6 730 c.568C>G c.(568-570)Cca>Gca p.P190A ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000495735.1_Intron|ZDHHC16_ENST00000352634.4_Intron|ZDHHC16_ENST00000393760.1_Intron|ZDHHC16_ENST00000370842.2_Intron|ZDHHC16_ENST00000370854.3_Intron Q969W1 ZDH16_HUMAN zinc finger, DHHC-type containing 16 0 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) CATACTTCCTCCAGCCCTCTC 0.468000 74 138 0 0 0.014410 0 0 EYA4 2070 broad.mit.edu 37 6 133595853 133595853 + Splice_Site SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:133595853G>T ENST00000367895.5 + 2 399 c.e2-1 EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000430974.2_Splice_Site NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCTTGTTTTAGATAGTCATTT 0.343000 9 26 3.86212e-05 4.15706e-05 0.008291 1 0 ZNF551 90233 broad.mit.edu 37 19 58199621 58199621 + Nonsense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:58199621C>T ENST00000282296.5 + 3 2163 c.1978C>T c.(1978-1980)Cga>Tga p.R660* ZNF551_ENST00000356715.4_Nonsense_Mutation_p.R644*|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TAACCTCATTCGACATCGGAG 0.423000 62 126 0 0 0.014410 0 0 ACSL6 23305 broad.mit.edu 37 5 131329810 131329810 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:131329810C>A ENST00000379264.2 - 2 292 c.184G>T c.(184-186)Gct>Tct p.A62S ACSL6_ENST00000296869.4_Missense_Mutation_p.A62S|ACSL6_ENST00000379246.1_Missense_Mutation_p.A48S|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379244.1_Missense_Mutation_p.A37S|ACSL6_ENST00000379272.2_Missense_Mutation_p.A37S|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000543479.1_Missense_Mutation_p.A37S|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379240.1_Missense_Mutation_p.A37S|ACSL6_ENST00000379249.3_Missense_Mutation_p.A37S NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 37 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGATGGCAGCCAGGGCACCC 0.582000 24 4 2.44723e-14 3.20259e-14 0.004656 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813294 106813294 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:106813294C>G ENST00000407775.2 + 8 1234 c.984C>G c.(982-984)ttC>ttG p.F328L RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F196L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.F59L|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F196L NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 328 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGGAAGAATTCCTGCCCCCTG 0.428000 70 70 0 0 0.014410 0 0 ASNS 440 broad.mit.edu 37 7 97493702 97493702 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:97493702C>A ENST00000175506.4 - 5 884 c.356G>T c.(355-357)gGt>gTt p.G119V ASNS_ENST00000444334.1_Missense_Mutation_p.G98V|ASNS_ENST00000422745.1_Missense_Mutation_p.G98V|ASNS_ENST00000455086.1_Missense_Mutation_p.G36V|ASNS_ENST00000394309.3_Missense_Mutation_p.G119V|ASNS_ENST00000394308.3_Missense_Mutation_p.G119V|ASNS_ENST00000437628.1_Missense_Mutation_p.G36V NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 119 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGCAAACACACCATCCAACAT 0.368000 27 12 7.07758e-08 8.09421e-08 0.004656 1 0 FGD4 121512 broad.mit.edu 37 12 32735365 32735365 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:32735365G>A ENST00000427716.2 + 4 988 c.564G>A c.(562-564)ctG>ctA p.L188L FGD4_ENST00000534526.2_Silent_p.L325L|FGD4_ENST00000472289.1_Silent_p.L188L|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Silent_p.L95L|FGD4_ENST00000531134.1_Silent_p.L273L|FGD4_ENST00000525053.1_Silent_p.L300L NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 188 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AAAGCCCTCTGGAACTGGAGC 0.512000 19 27 0 0 0.008871 0 0 SEMA5B 54437 broad.mit.edu 37 3 122634696 122634696 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:122634696C>A ENST00000195173.4 - 13 2033 c.1730G>T c.(1729-1731)gGg>gTg p.G577V SEMA5B_ENST00000451055.2_Missense_Mutation_p.G631V|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G577V Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 577 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TTGCTGCTTCCCGTCCCAGCC 0.622000 24 20 9.57634e-11 1.15872e-10 0.018920 1 0 TSHR 7253 broad.mit.edu 37 14 81610251 81610251 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:81610251G>A ENST00000541158.2 + 11 2171 c.1849G>A c.(1849-1851)Gac>Aac p.D617N RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.D617N P16473 TSHR_HUMAN thyroid stimulating hormone receptor 617 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.Y613_K621del(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CAACCCAGGGGACAAAGATAC 0.453000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 48 134 0 0 0.014410 0 0 ACVR2A 92 broad.mit.edu 37 2 148684648 148684648 + Splice_Site SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:148684648G>C ENST00000241416.7 + 11 1983 c.e11-1 ACVR2A_ENST00000495775.1_Splice_Site|ACVR2A_ENST00000404590.1_Splice_Site|ACVR2A_ENST00000535787.1_Splice_Site NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TCTCCTTTTAGGGAATGGCAA 0.388000 35 21 0 0 0.017118 0 0 FRG2B 441581 broad.mit.edu 37 10 135438974 135438974 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:135438974T>A ENST00000443774.1 - 4 518 c.469A>T c.(469-471)Agc>Tgc p.S157C FRG2B_ENST00000425520.1_Missense_Mutation_p.S156C Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 156 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGCCGCTTGCTGCGCCCAGTG 0.522000 9 183 0 0 0.016723 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158057 26158057 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:26158057G>C ENST00000325250.1 + 2 1142 c.955G>C c.(955-957)Gca>Cca p.A319P NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 319 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AGCCAGAGCTGCAGCCAGGGC 0.512000 7 4 0 0 0.001984 0 0 CCKBR 887 broad.mit.edu 37 11 6291459 6291459 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:6291459C>A ENST00000525462.1 + 3 548 c.545C>A c.(544-546)tCc>tAc p.S182Y CCKBR_ENST00000532715.1_Missense_Mutation_p.S98Y|CCKBR_ENST00000334619.2_Missense_Mutation_p.S182Y|CCKBR_ENST00000525014.1_3'UTR P32239 GASR_HUMAN cholecystokinin B receptor 146 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TGGCTGCTGTCCGGACTACTC 0.672000 23 13 2.21704e-12 2.80627e-12 0.016522 1 0 REG3A 5068 broad.mit.edu 37 2 79385792 79385792 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:79385792G>T ENST00000393878.1 - 2 434 c.180C>A c.(178-180)tcC>tcA p.S60S REG3A_ENST00000409839.3_Silent_p.S60S|REG3A_ENST00000305165.2_Silent_p.S60S|AC011754.1_ENST00000415201.1_RNA NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 60 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CATCTGTCCAGGATTTTGGTG 0.547000 25 57 3.73808e-20 5.37028e-20 0.005443 1 0 MNDA 4332 broad.mit.edu 37 1 158815577 158815577 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:158815577A>T ENST00000368141.4 + 5 1032 c.771A>T c.(769-771)aaA>aaT p.K257N NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 257 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TCAACTTGAAAGAGAAATTTG 0.368000 15 62 0 0 0.003163 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31488241 31488241 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:31488241C>A ENST00000394863.3 + 10 1159 c.1029C>A c.(1027-1029)gcC>gcA p.A343A TGFB1I1_ENST00000567607.1_Silent_p.A326A|TGFB1I1_ENST00000361773.3_Silent_p.A326A|TGFB1I1_ENST00000394858.2_Silent_p.A326A NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 343 LIM zinc-binding 2. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 AGCTGTTCGCCCCGCGCTGCC 0.677000 4 9 0.00909568 0.00931905 0.009096 1 0 SH3TC1 54436 broad.mit.edu 37 4 8226929 8226929 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:8226929A>T ENST00000539824.1 + 11 1417 c.1043A>T c.(1042-1044)cAg>cTg p.Q348L SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.Q424L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 424 SH3. binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GAGACCGAGCAGCCGCAGGAA 0.577000 9 19 0 0 0.006214 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279531 217279531 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:217279531G>C ENST00000357276.4 + 3 434 c.104G>C c.(103-105)aGg>aCg p.R35T SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R35T NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 35 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CAGCATCAGAGGACTAGCTCG 0.522000 Schimke Immuno-Osseous Dysplasia 38 107 0 0 0.007835 0 0 CARD6 84674 broad.mit.edu 37 5 40853054 40853054 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:40853054G>C ENST00000254691.5 + 3 1819 c.1620G>C c.(1618-1620)tgG>tgC p.W540C CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 540 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AAAGCTTTTGGACTCAGTTTG 0.398000 56 102 0 0 0.014410 0 0 NPY2R 4887 broad.mit.edu 37 4 156136063 156136063 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:156136063C>A ENST00000329476.3 + 2 1461 c.972C>A c.(970-972)ctC>ctA p.L324L NPY2R_ENST00000506608.1_Silent_p.L324L NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 324 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ATCCCCTTCTCTATGGCTGGA 0.512000 28 47 7.38237e-10 8.79978e-10 0.006320 1 0 DENND3 22898 broad.mit.edu 37 8 142199130 142199130 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:142199130G>A ENST00000519811.1 + 19 3200 c.3130G>A c.(3130-3132)Gaa>Aaa p.E1044K DENND3_ENST00000424248.1_Missense_Mutation_p.E912K|DENND3_ENST00000523308.1_Missense_Mutation_p.E14K|DENND3_ENST00000262585.2_Missense_Mutation_p.E964K A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 964 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGTTGGCTCGGAAGACTCCGT 0.542000 8 17 0 0 0.004482 0 0 IL3RA 3563 broad.mit.edu 37 X 1499970 1499970 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:1499970C>G ENST00000331035.4 + 11 1384 c.1035C>G c.(1033-1035)atC>atG p.I345M IL3RA_ENST00000381469.2_Missense_Mutation_p.I267M NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 345 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AAGACCCCATCGGTGACAGCT 0.567000 37 118 0 0 0.009718 0 0 UNC79 57578 broad.mit.edu 37 14 94007066 94007066 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:94007066G>T ENST00000553484.1 + 13 1567 c.1413G>T c.(1411-1413)cgG>cgT p.R471R UNC79_ENST00000256339.4_Silent_p.R294R|UNC79_ENST00000555664.1_Silent_p.R471R|UNC79_ENST00000393151.2_Silent_p.R471R Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 471 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ACCGGCGGCGGCAGCTGGGCC 0.498000 21 62 1.50039e-11 1.85196e-11 0.012319 1 0 TRIM29 23650 broad.mit.edu 37 11 119983128 119983128 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:119983128G>T ENST00000341846.5 - 9 2182 c.1761C>A c.(1759-1761)gcC>gcA p.A587A TRIM29_ENST00000529044.1_Silent_p.A326A|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000524816.3_Silent_p.A153A|TRIM29_ENST00000541857.1_Silent_p.A320A|TRIM29_ENST00000528870.1_Silent_p.A120A NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 587 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GAGCTCATGGGGCTTCGTTGG 0.587000 33 39 6.97489e-18 9.53448e-18 0.021022 1 0 DNTT 1791 broad.mit.edu 37 10 98084037 98084037 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:98084037A>T ENST00000419175.1 + 6 935 c.765A>T c.(763-765)gtA>gtT p.V255V DNTT_ENST00000371174.2_Silent_p.V255V NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 255 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TTACTTCTGTATTTGGAGTGG 0.428000 61 73 0 0 0.014410 0 0 CCT6A 908 broad.mit.edu 37 7 56125754 56125754 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:56125754C>T ENST00000275603.4 + 6 902 c.683C>T c.(682-684)gCa>gTa p.A228V CCT6A_ENST00000335503.3_Missense_Mutation_p.A183V|CCT6A_ENST00000540286.1_Missense_Mutation_p.A197V NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 228 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTGGAGGATGCATACATCCTC 0.408000 28 33 0 0 0.006320 0 0 HTR2B 3357 broad.mit.edu 37 2 231973423 231973423 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:231973423C>T ENST00000258400.3 - 4 1766 c.1254G>A c.(1252-1254)cgG>cgA p.R418R PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 418 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) CCATTGGATTCCGGAAGTAGA 0.438000 22 53 0 0 0.010504 0 0 TP53 7157 broad.mit.edu 37 17 7576852 7576852 + Splice_Site SNP C C A rs11575997 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:7576852C>A ENST00000420246.2 - 9 1126 c.e9+1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(24)|p.0?(8)|p.I332fs*49(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) AGACTTAGTACCTGAAGGGTG 0.458000 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) 34 13 1.99505e-19 2.83107e-19 0.012213 1 0 MVK 4598 broad.mit.edu 37 12 110017675 110017675 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:110017675G>A ENST00000228510.3 + 4 371 c.295G>A c.(295-297)Gac>Aac p.D99N MVK_ENST00000535044.1_Intron|MVK_ENST00000539575.1_Missense_Mutation_p.D99N|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Missense_Mutation_p.D99N|MVK_ENST00000541384.1_Intron NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 99 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 AGGCTTGCCTGACGACTGTGC 0.547000 11 28 0 0 0.013537 0 0 WDR1 9948 broad.mit.edu 37 4 10090303 10090303 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:10090303G>A ENST00000382452.2 - 6 903 c.621C>T c.(619-621)gcC>gcT p.A207A WDR1_ENST00000382451.2_Silent_p.A67A|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Silent_p.A207A|WDR1_ENST00000502702.1_Silent_p.A67A NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 207 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CGTCAGCACTGGCTGTGGCAA 0.572000 8 8 0 0 0.003080 0 0 MTSS1L 92154 broad.mit.edu 37 16 70711761 70711761 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:70711761C>A ENST00000338779.6 - 9 940 c.666G>T c.(664-666)caG>caT p.Q222H NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 222 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 CGATGATGCCCTGCAGGTGGG 0.657000 5 4 1.23904e-05 1.35321e-05 0.014758 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106810871 106810871 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:106810871C>G ENST00000526355.1 - 4 989 c.521G>C c.(520-522)gGt>gCt p.G174A GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G174A|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G174A NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 174 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GAACTCTTCACCAAATCTTTT 0.333000 31 37 0 0 0.008361 0 0 TTN 7273 broad.mit.edu 37 2 179597025 179597025 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:179597025C>A ENST00000589042.1 - 57 16895 c.16671G>T c.(16669-16671)aaG>aaT p.K5557N TTN_ENST00000342992.6_Missense_Mutation_p.K4313N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5240N|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5240 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCATCTCCCTTCTTTAACA 0.398000 81 60 1.71382e-40 2.78429e-40 0.014410 1 0 MIR3654 100500804 broad.mit.edu 37 11 62356654 62356654 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:62356654C>G ENST00000496634.2 - 2 167 c.122G>C c.(121-123)cGg>cCg p.R41P TUT1_ENST00000308436.7_Missense_Mutation_p.R79P|TUT1_ENST00000476907.1_Missense_Mutation_p.R41P NS(1) 1 TACCAGGTGCCGGTGCTTTCT 0.537000 20 35 0 0 0.008871 0 0 CRB2 286204 broad.mit.edu 37 9 126129602 126129602 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:126129602G>T ENST00000373631.3 + 5 907 c.906G>T c.(904-906)gcG>gcT p.A302A CRB2_ENST00000359999.3_Silent_p.A302A NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 302 EGF-like 6. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GCCATGCTGCGGGTTTCCTGT 0.687000 20 8 1.10923e-09 1.3132e-09 0.016522 1 0 ARAP2 116984 broad.mit.edu 37 4 36093643 36093643 + Splice_Site SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:36093643C>A ENST00000303965.4 - 28 4775 c.e28-1 NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GTACTCCGGTCTGTAAAGTAC 0.313000 50 92 1.57914e-17 2.1418e-17 0.014410 1 0 TPR 7175 broad.mit.edu 37 1 186316471 186316471 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:186316471G>C ENST00000367478.3 - 22 3192 c.2896C>G c.(2896-2898)Caa>Gaa p.Q966E NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 966 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACCATTGCTTGATATTGTTCC 0.363000 T NTRK1 papillary thyroid 46 70 0 0 0.013114 0 0 FZD1 8321 broad.mit.edu 37 7 90895395 90895395 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:90895395G>A ENST00000287934.2 + 1 1613 c.1200G>A c.(1198-1200)gaG>gaA p.E400E NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 400 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCAAGAAGGAGGGCTGCACCA 0.602000 39 20 0 0 0.006230 0 0 DPYS 1807 broad.mit.edu 37 8 105393488 105393488 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:105393488G>T ENST00000351513.2 - 9 1630 c.1498C>A c.(1498-1500)Ctg>Atg p.L500M DPYS_ENST00000521601.1_5'UTR NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 500 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTGGATTTCAGTGTGGCGACT 0.493000 46 43 1.57945e-13 2.03379e-13 0.011902 1 0 DMTN 2039 broad.mit.edu 37 8 21931341 21931341 + Missense_Mutation SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:21931341A>G ENST00000358242.3 + 10 1323 c.830A>G c.(829-831)cAt>cGt p.H277R DMTN_ENST00000432128.1_Missense_Mutation_p.H277R|DMTN_ENST00000443491.2_Missense_Mutation_p.H252R|DMTN_ENST00000415253.1_Missense_Mutation_p.H277R|DMTN_ENST00000523782.2_Missense_Mutation_p.H252R|DMTN_ENST00000265800.5_Missense_Mutation_p.H277R|DMTN_ENST00000523266.1_Missense_Mutation_p.H277R|DMTN_ENST00000381470.3_Missense_Mutation_p.H277R|DMTN_ENST00000517600.1_Missense_Mutation_p.H237R|DMTN_ENST00000519907.1_Missense_Mutation_p.H277R dematin actin binding protein ACACCCTTCCATACCTGTGAG 0.517000 7 9 0 0 0.001984 0 0 SPEN 23013 broad.mit.edu 37 1 16262537 16262537 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:16262537C>T ENST00000375759.3 + 11 10006 c.9802C>T c.(9802-9804)Cgt>Tgt p.R3268C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3268 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGGTGAGGCCCGTATCCTCAC 0.657000 95 29 0 0 0.014410 0 0 DCPS 28960 broad.mit.edu 37 11 126201331 126201331 + Silent SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:126201331A>T ENST00000263579.4 + 3 737 c.408A>T c.(406-408)acA>acT p.T136T DCPS_ENST00000530860.1_3'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 136 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) ACCCTGCCACAGAGAAACACC 0.552000 47 160 0 0 0.014410 0 0 DNAJB13 374407 broad.mit.edu 37 11 73670600 73670600 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:73670600G>A ENST00000339764.1 + 3 985 c.234G>A c.(232-234)ttG>ttA p.L78L NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 78 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) GGATTCCTTTGGAGTTTGGAT 0.507000 24 49 0 0 0.005443 0 0 PRKAA2 5563 broad.mit.edu 37 1 57171805 57171805 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:57171805C>T ENST00000371244.4 + 8 1400 c.1334C>T c.(1333-1335)cCa>cTa p.P445L NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 445 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 AGAAAAAATCCAGTGACTGGC 0.318000 15 39 0 0 0.003163 0 0 FZD8 8325 broad.mit.edu 37 10 35928568 35928568 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:35928568C>T ENST00000374694.1 - 1 1794 c.1790G>A c.(1789-1791)gGc>gAc p.G597D NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 597 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 CGAGGTGATGCCCACCACTAG 0.687000 9 48 0 0 0.010729 0 0 CSPG4 1464 broad.mit.edu 37 15 75979977 75979977 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:75979977G>T ENST00000308508.5 - 3 3521 c.3429C>A c.(3427-3429)ggC>ggA p.G1143G NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1143 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGTCGATGGTGCCCTGGCCTC 0.667000 50 77 5.82388e-19 8.1644e-19 0.014410 1 0 CCAR1 55749 broad.mit.edu 37 10 70513758 70513758 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:70513758A>T ENST00000265872.6 + 11 1387 c.1268A>T c.(1267-1269)cAc>cTc p.H423L CCAR1_ENST00000543719.1_Missense_Mutation_p.H408L|CCAR1_ENST00000535016.1_Missense_Mutation_p.H408L NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 423 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TATGTAATGCACAGAGAAGTA 0.383000 54 73 0 0 0.014410 0 0 KMT2A 4297 broad.mit.edu 37 11 118390685 118390685 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:118390685G>C ENST00000534358.1 + 33 11358 c.11335G>C c.(11335-11337)Gac>Cac p.D3779H RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Missense_Mutation_p.D3776H|KMT2A_ENST00000354520.4_Missense_Mutation_p.D3738H|RP11-770J1.3_ENST00000554407.1_RNA NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTCAGCATTTGACATGTTTAA 0.403000 11 30 0 0 0.013537 0 0 DSCAM 1826 broad.mit.edu 37 21 41648175 41648175 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:41648175C>A ENST00000400454.1 - 11 2682 c.2205G>T c.(2203-2205)caG>caT p.Q735H NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 735 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGGCAATTGGCTGGAACTGGG 0.493000 14 27 4.7546e-09 5.55948e-09 0.004007 1 0 REV3L 5980 broad.mit.edu 37 6 111678278 111678278 + Missense_Mutation SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:111678278C>T ENST00000435970.1 - 20 7705 c.6889G>A c.(6889-6891)Gaa>Aaa p.E2297K REV3L_ENST00000368805.1_Missense_Mutation_p.E2375K|REV3L_ENST00000368802.3_Missense_Mutation_p.E2375K|REV3L_ENST00000358835.3_Missense_Mutation_p.E2375K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2375 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TAGGTGACTTCGAGTCCTGTA 0.274000 DNA polymerases (catalytic subunits) 24 70 0 0 0.005443 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063342 76063342 + Silent SNP A A G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:76063342A>G ENST00000260045.3 - 5 957 c.852T>C c.(850-852)gaT>gaC p.D284D NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 284 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TATGAGATTCATCAACAAACC 0.423000 28 31 0 0 0.012213 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28210819 28210819 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr21:28210819C>A ENST00000284984.2 - 8 2597 c.2143G>T c.(2143-2145)Ggt>Tgt p.G715C NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 715 Cys-rich. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) CCGCAAACACCACATTTATCA 0.383000 15 54 2.61681e-11 3.19969e-11 0.020292 1 0 DDX43 55510 broad.mit.edu 37 6 74104725 74104725 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:74104725G>A ENST00000370336.4 + 1 255 c.97G>A c.(97-99)Gag>Aag p.E33K DDX43_ENST00000539829.1_Missense_Mutation_p.E33K|OOEP_ENST00000370363.1_5'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 33 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GAGGCCGGCGGAGGAGTTGAA 0.642000 49 57 0 0 0.014410 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124734 26124734 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:26124734G>A ENST00000602637.1 + 1 304 c.274G>A c.(274-276)Gag>Aag p.E92K HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E92K Q93077 H2A1C_HUMAN histone cluster 1, H2ac 92 nucleosome assembly nucleosome|nucleus DNA binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5) 12 CCGCAACGACGAGGAGCTCAA 0.622000 113 41 0 0 0.014410 0 0 SLA 6503 broad.mit.edu 37 8 134062207 134062207 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:134062207G>T ENST00000338087.5 - 5 1007 c.188C>A c.(187-189)tCt>tAt p.S63Y SLA_ENST00000524345.1_5'UTR|SLA_ENST00000517648.1_Missense_Mutation_p.S80Y|SLA_ENST00000427060.2_Missense_Mutation_p.S103Y|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S80Y|SLA_ENST00000518565.1_5'UTR|TG_ENST00000220616.4_Intron NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 63 SH3. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) AGTGCTAAGAGAAATAGCTTT 0.423000 42 26 6.5261e-18 8.95622e-18 0.008740 1 0 PHKA2 5256 broad.mit.edu 37 X 18944619 18944619 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:18944619T>A ENST00000379942.4 - 14 2076 c.1411A>T c.(1411-1413)Att>Ttt p.I471F NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 471 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TGGACTTGAATTGGATGAATG 0.473000 66 46 0 0 0.014410 0 0 SHROOM2 357 broad.mit.edu 37 X 9864172 9864172 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:9864172G>T ENST00000380913.3 + 4 2314 c.2224G>T c.(2224-2226)Ggg>Tgg p.G742W NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 742 ASD1. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) TACAAGTGGCGGGCCCCACCC 0.627000 4 4 4.096e-09 4.79476e-09 0.001168 1 0 AHNAK 79026 broad.mit.edu 37 11 62292197 62292197 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:62292197G>A ENST00000378024.4 - 5 9966 c.9692C>T c.(9691-9693)cCt>cTt p.P3231L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3231 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTCATTTTAGGGCCTTTAAG 0.413000 95 120 0 0 0.014410 0 0 ING1 3621 broad.mit.edu 37 13 111372069 111372069 + Silent SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:111372069C>G ENST00000375774.3 + 2 1521 c.1059C>G c.(1057-1059)ccC>ccG p.P353P ING1_ENST00000333219.7_Silent_p.P210P|ING1_ENST00000338450.7_Silent_p.P166P|ING1_ENST00000375775.3_Silent_p.P141P NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 353 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) CCAACGAACCCACGTACTGTC 0.612000 15 59 0 0 0.003163 0 0 C5orf38 153571 broad.mit.edu 37 5 2755283 2755283 + Silent SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:2755283G>A ENST00000397835.4 + 3 474 c.474G>A c.(472-474)ccG>ccA p.P158P C5orf38_ENST00000334000.3_3'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 44 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) TGAGAAggccggggcgctcgc 0.791000 4 9 0 0 0.009096 0 0 SPERT 220082 broad.mit.edu 37 13 46288332 46288332 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:46288332G>T ENST00000378966.3 + 2 1480 c.1064G>T c.(1063-1065)aGg>aTg p.R355M SPERT_ENST00000310521.1_Missense_Mutation_p.R391M Q8NA61 SPERT_HUMAN spermatid associated 391 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GCAGAGCACAGGGGCTTCCAG 0.622000 5 19 0.00116845 0.00121869 0.001168 1 0 PDE6A 5145 broad.mit.edu 37 5 149276050 149276050 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:149276050C>A ENST00000255266.5 - 12 1608 c.1489G>T c.(1489-1491)Gat>Tat p.D497Y NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 497 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTATCTGCATCTGGCAGCTCC 0.443000 30 16 9.39395e-14 1.21713e-13 0.006320 1 0 FSIP2 401024 broad.mit.edu 37 2 186697850 186697850 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:186697850C>A ENST00000343098.5 + 23 20888 c.20888C>A c.(20887-20889)tCt>tAt p.S6963Y FSIP2_ENST00000424728.1_Missense_Mutation_p.S6874Y NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AAACAAGGATCTAAAATGCTG 0.383000 32 31 1.06801e-11 1.32454e-11 0.009535 1 0 GRIN3A 116443 broad.mit.edu 37 9 104499906 104499906 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:104499906G>T ENST00000361820.3 - 1 956 c.356C>A c.(355-357)gCg>gAg p.A119E NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 119 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CAGGGCCTCCGCCCTGGCGCC 0.711000 10 3 0.000442599 0.000466294 0.006214 1 0 SMARCA1 6594 broad.mit.edu 37 X 128652375 128652375 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:128652375G>A ENST00000371122.4 - 2 353 c.224C>T c.(223-225)tCt>tTt p.S75F SMARCA1_ENST00000371121.3_Missense_Mutation_p.S75F|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Missense_Mutation_p.S75F NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 75 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTCCTTTTCAGATTTAGGCGC 0.313000 9 26 0 0 0.006214 0 0 GIF 2694 broad.mit.edu 37 11 59604670 59604670 + Missense_Mutation SNP A A C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:59604670A>C ENST00000541311.1 - 6 1007 c.773T>G c.(772-774)gTg>gGg p.V258G GIF_ENST00000257248.2_Missense_Mutation_p.V283G P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 283 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GACCTGGGGCACATCTAGGTA 0.453000 33 54 0 0 0.021022 0 0 FBXO31 79791 broad.mit.edu 37 16 87364905 87364905 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:87364905G>A ENST00000311635.7 - 9 1621 c.1609C>T c.(1609-1611)Ctc>Ttc p.L537F RP11-178L8.4_ENST00000568879.1_Intron NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 537 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) CAGGAGGTGAGGGACTGAATG 0.587000 12 22 0 0 0.013537 0 0 PRSS12 8492 broad.mit.edu 37 4 119220095 119220095 + Splice_Site SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:119220095T>A ENST00000296498.3 - 9 1914 c.e9-2 NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 GCAGGACCCCTGAAGACAGAA 0.378000 19 5 0 0 0.008871 0 0 NBPF9 400818 broad.mit.edu 37 1 144811944 144811944 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:144811944G>T ENST00000440491.2 + 1 201 c.201G>T c.(199-201)caG>caT p.Q67H NBPF9_ENST00000338347.4_Missense_Mutation_p.Q67H|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TGGCCAACCAGCAGAACAAAT 0.453000 39 170 1.05386e-31 1.65538e-31 0.014410 1 0 NCAPD3 23310 broad.mit.edu 37 11 134028316 134028316 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:134028316C>A ENST00000534548.2 - 30 4006 c.3942G>T c.(3940-3942)caG>caT p.Q1314H NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1314 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GTGTGCAGGGCTGGCTCACGG 0.532000 35 75 1.36161e-19 1.94277e-19 0.019004 1 0 CNBD1 168975 broad.mit.edu 37 8 88249284 88249284 + Nonsense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:88249284G>T ENST00000518476.1 + 6 766 c.715G>T c.(715-717)Gaa>Taa p.E239* CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 239 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 CATTTGGAGTGAAGAATTCAA 0.393000 14 46 2.32078e-09 2.72895e-09 0.003163 1 0 EYA1 2138 broad.mit.edu 37 8 72111605 72111605 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:72111605C>A ENST00000340726.3 - 18 2388 c.1749G>T c.(1747-1749)ctG>ctT p.L583L EYA1_ENST00000388740.3_Silent_p.L550L|EYA1_ENST00000419131.1_Silent_p.L548L|EYA1_ENST00000303824.7_Silent_p.L577L|EYA1_ENST00000388741.2_Silent_p.L549L|EYA1_ENST00000388742.4_Silent_p.L583L|EYA1_ENST00000388743.2_Silent_p.L582L|RP11-326E22.1_ENST00000521685.1_RNA NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 583 L -> P (in BOR1). double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AGGCATGGTGCAGGGCCATGA 0.617000 10 21 1.58986e-06 1.76972e-06 0.008291 1 0 TEC 7006 broad.mit.edu 37 4 48140816 48140816 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:48140816T>A ENST00000381501.3 - 17 1835 c.1678A>T c.(1678-1680)Acg>Tcg p.T560S NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 560 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 CTGCCTTCCGTGAATACTTCC 0.458000 26 35 0 0 0.004656 0 0 HECW1 23072 broad.mit.edu 37 7 43484422 43484422 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:43484422G>A ENST00000395891.1 + 11 2256 c.1651G>A c.(1651-1653)Ggg>Agg p.G551R HECW1_ENST00000453890.1_Missense_Mutation_p.G551R NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 551 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GTCAGCCTGCGGGGACCCCGA 0.692000 31 44 0 0 0.010818 0 0 PDE1C 5137 broad.mit.edu 37 7 31864532 31864532 + Missense_Mutation SNP G G A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:31864532G>A ENST00000396184.3 - 14 1559 c.1355C>T c.(1354-1356)cCa>cTa p.P452L PDE1C_ENST00000396191.1_Missense_Mutation_p.P452L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P452L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P452L|PDE1C_ENST00000396193.1_Missense_Mutation_p.P512L NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 452 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATCGATTAATGGACTCACAAT 0.507000 64 79 0 0 0.014410 0 0 FAM153B 202134 broad.mit.edu 37 5 175528064 175528064 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr5:175528064C>T ENST00000253490.4 + 11 634 c.577C>T c.(577-579)Ctg>Ttg p.L193L FAM153B_ENST00000510151.1_Silent_p.L116L|FAM153B_ENST00000515817.1_Silent_p.L116L|FAM153B_ENST00000512862.1_Intron P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 193 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CCTGGAAGACCTGGAGGAGCA 0.512000 57 133 0 0 0.014410 0 0 FGFR1 2260 broad.mit.edu 37 8 38277222 38277222 + Silent SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:38277222C>A ENST00000341462.5 - 9 2054 c.1113G>T c.(1111-1113)tcG>tcT p.S371S FGFR1_ENST00000397103.1_Silent_p.S282S|FGFR1_ENST00000397108.4_Silent_p.S369S|FGFR1_ENST00000397113.2_Silent_p.S369S|FGFR1_ENST00000356207.5_Silent_p.S282S|FGFR1_ENST00000335922.5_Silent_p.S363S|FGFR1_ENST00000326324.6_Silent_p.S280S|FGFR1_ENST00000532791.1_Silent_p.S371S|FGFR1_ENST00000447712.2_Silent_p.S371S|FGFR1_ENST00000425967.3_Silent_p.S402S|FGFR1_ENST00000397091.5_Silent_p.S369S P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 371 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.S371S(3)|p.S363S(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGTACAGGGGCGAGGTCATCA 0.582000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 16 24 2.23348e-06 2.47822e-06 0.004007 1 0 BIRC6 57448 broad.mit.edu 37 2 32774389 32774389 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:32774389A>T ENST00000421745.2 + 65 13119 c.12985A>T c.(12985-12987)Agt>Tgt p.S4329C NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4329 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GGTTCTTGCCAGTTACATAAA 0.363000 27 45 0 0 0.008361 0 0 AHNAK 79026 broad.mit.edu 37 11 62297614 62297614 + Silent SNP C C T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:62297614C>T ENST00000378024.4 - 5 4549 c.4275G>A c.(4273-4275)gtG>gtA p.V1425V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1425 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTCAATATTCACATCTGGAA 0.463000 142 258 0 0 0.014410 0 0 CHD5 26038 broad.mit.edu 37 1 6169998 6169998 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:6169998A>T ENST00000262450.3 - 38 5534 c.5435T>A c.(5434-5436)cTg>cAg p.L1812Q CHD5_ENST00000378021.1_Missense_Mutation_p.L669Q NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1812 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGTCATGTTCAGGTACGCGGC 0.697000 32 11 0 0 0.008361 0 0 RILPL1 353116 broad.mit.edu 37 12 123983220 123983220 + Missense_Mutation SNP T T G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:123983220T>G ENST00000376874.4 - 4 907 c.672A>C c.(670-672)gaA>gaC p.E224D RILPL1_ENST00000340724.6_Missense_Mutation_p.E72D NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 224 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) CCACCTTCTGTTCGATCAGGG 0.612000 61 67 0 0 0.014410 0 0 NSUN6 221078 broad.mit.edu 37 10 18885168 18885168 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr10:18885168G>T ENST00000377304.4 - 7 1164 c.746C>A c.(745-747)aCa>aAa p.T249K NM_182543.2 NP_872349.1 Q8TEA1 NSUN6_HUMAN NOP2/Sun domain family, member 6 249 methyltransferase activity|RNA binding endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 AATGTGTGTTGTTTTCCCTCC 0.398000 47 20 2.61675e-31 4.09187e-31 0.013114 1 0 GPR132 29933 broad.mit.edu 37 14 105518183 105518183 + Silent SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:105518183G>T ENST00000329797.3 - 4 1202 c.291C>A c.(289-291)ctC>ctA p.L97L GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.L97L|GPR132_ENST00000392585.2_Silent_p.L88L NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 97 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) AGATGACCCAGAGTGGCAGCG 0.617000 26 126 3.65163e-15 4.81498e-15 0.006320 1 0 FZD7 8324 broad.mit.edu 37 2 202899768 202899768 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:202899768C>A ENST00000286201.1 + 1 459 c.398C>A c.(397-399)gCg>gAg p.A133E NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 133 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 GGCTGCGAGGCGCTCATGAAC 0.652000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 41 3.21987e-24 4.82518e-24 0.014410 1 0 MTERFD3 80298 broad.mit.edu 37 12 107371572 107371572 + Missense_Mutation SNP C C G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:107371572C>G ENST00000552029.1 - 2 2989 c.921G>C c.(919-921)ttG>ttC p.L307F MTERFD3_ENST00000392830.2_Missense_Mutation_p.L307F|MTERFD3_ENST00000240050.4_Missense_Mutation_p.L307F|C12orf23_ENST00000551237.1_Intron Q49AM1 MTER3_HUMAN MTERF domain containing 3 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 TTCCTTCTCTCAATAATCCTT 0.368000 32 138 0 0 0.009535 0 0 SULT1C2 6819 broad.mit.edu 37 2 108922022 108922022 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:108922022A>T ENST00000326853.5 + 8 1235 c.782A>T c.(781-783)gAc>gTc p.D261V SULT1C2_ENST00000437390.2_Missense_Mutation_p.D264V|SULT1C2_ENST00000251481.6_Missense_Mutation_p.D250V|SULT1C2_ENST00000409880.1_Missense_Mutation_p.D213V NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 250 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TCTATCTTGGACCAGTCAATT 0.393000 7 88 0 0 0.001984 0 0 HRNR 388697 broad.mit.edu 37 1 152187488 152187488 + Missense_Mutation SNP C C A rs139858493 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:152187488C>A ENST00000368801.2 - 3 6692 c.6617G>T c.(6616-6618)gGt>gTt p.G2206V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2206 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAAGAACGACCTGAGCCAGA 0.607000 51 548 3.31993e-32 5.23064e-32 0.014410 1 0 NUP205 23165 broad.mit.edu 37 7 135272330 135272330 + Missense_Mutation SNP A A T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:135272330A>T ENST00000285968.6 + 9 1252 c.1226A>T c.(1225-1227)cAg>cTg p.Q409L NUP205_ENST00000440390.2_Missense_Mutation_p.Q203L NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 409 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TAGGTGAAACAGCTGAGGAAT 0.353000 11 11 0 0 0.008291 0 0 OR5T1 390155 broad.mit.edu 37 11 56043758 56043758 + Missense_Mutation SNP T T C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:56043758T>C ENST00000313033.2 + 1 730 c.644T>C c.(643-645)gTg>gCg p.V215A NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTCTACTTTGTGGGCTCTATT 0.413000 78 139 0 0 0.014410 0 0 TTC16 158248 broad.mit.edu 37 9 130486546 130486546 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:130486546C>A ENST00000373289.3 + 8 1100 c.1020C>A c.(1018-1020)caC>caA p.H340Q PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Missense_Mutation_p.H164Q NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 340 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TTGCCGTGCACTGCTACAGGC 0.622000 48 10 5.78141e-17 7.79072e-17 0.013114 1 0 MAP2K5 5607 broad.mit.edu 37 15 67893060 67893060 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:67893060G>C ENST00000178640.5 + 8 1145 c.518G>C c.(517-519)gGt>gCt p.G173A MAP2K5_ENST00000354498.5_Missense_Mutation_p.G137A|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Missense_Mutation_p.G173A NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 173 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 GACACTCTTGGTCATGGCAAC 0.398000 20 61 0 0 0.016522 0 0 DCAF4 26094 broad.mit.edu 37 14 73421106 73421106 + Missense_Mutation SNP G G T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr14:73421106G>T ENST00000553457.1 + 10 910 c.620G>T c.(619-621)cGg>cTg p.R207L DCAF4_ENST00000509153.1_Missense_Mutation_p.R247L|DCAF4_ENST00000358377.2_Missense_Mutation_p.R307L|DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000555042.1_Missense_Mutation_p.R308L|DCAF4_ENST00000394234.2_Missense_Mutation_p.R207L Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 307 CUL4 RING ubiquitin ligase complex p.R307L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 TTGTCTCGGCGGGTCCTGTTG 0.547000 26 20 9.78306e-22 1.4251e-21 0.009535 1 0 TAS2R31 259290 broad.mit.edu 37 12 11183140 11183140 + Missense_Mutation SNP T T A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:11183140T>A ENST00000390675.2 - 1 866 c.795A>T c.(793-795)aaA>aaT p.K265N PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 265 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 ATCTAATAGCTTTGCAGAACA 0.398000 165 147 0 0 0.014410 0 0 C1orf101 257044 broad.mit.edu 37 1 244736039 244736039 + Frame_Shift_Del DEL T T - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr1:244736039delT ENST00000366534.4 + 11 1969 c.1915delT c.(1915-1917)ttfs p.F639fs C1orf101_ENST00000366533.4_Frame_Shift_Del_p.F639fs|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Frame_Shift_Del_p.F488fs NM_001130957.1 NP_001124429.1 Q5SY80 CA101_HUMAN chromosome 1 open reading frame 101 639 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 36 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) TGAGATTTCCTTTGAAGCTGC 0.318 7 46 --- --- --- --- TPO 7173 broad.mit.edu 37 2 1497681 1497681 + Frame_Shift_Del DEL T T - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:1497681delT ENST00000345913.4 + 11 1967 c.1876delT c.(1876-1878)acfs p.Y626fs TPO_ENST00000337415.3_Frame_Shift_Del_p.Y626fs|TPO_ENST00000329066.4_Frame_Shift_Del_p.Y626fs|TPO_ENST00000349624.3_Frame_Shift_Del_p.Y453fs|TPO_ENST00000382198.1_Frame_Shift_Del_p.Y453fs|TPO_ENST00000382201.3_Frame_Shift_Del_p.Y569fs|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Frame_Shift_Del_p.Y626fs NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 626 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCTGGACTTGTACAAGCATCC 0.607 14 51 --- --- --- --- IGKV1-17 28937 broad.mit.edu 37 2 89417281 89417281 + RNA DEL G G - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:89417281delG ENST00000490686.1 - 0 54 AGGAGCCCCAGGAGCTGAGCG 0.537 26 315 --- --- --- --- IGKV1D-17 28900 broad.mit.edu 37 2 90121684 90121684 + RNA DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:90121684delC ENST00000483379.1 + 0 208 CTGCTCAGCTCCTGGGGCTCC 0.527 38 70 --- --- --- --- PLCL1 5334 broad.mit.edu 37 2 198953615 198953616 + Frame_Shift_Ins INS - - T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr2:198953615_198953616insT ENST00000428675.1 + 3 3147_3148 c.2749_2750insT c.(2749-2751)cccfs p.P917fs PLCL1_ENST00000437704.2_Frame_Shift_Ins_p.P819fs NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 917 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) ACTATGTGGACTCCCTCCAATT 0.480 194 314 --- --- --- --- KBTBD12 166348 broad.mit.edu 37 3 127702968 127702969 + Frame_Shift_Ins INS - - T TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr3:127702968_127702969insT ENST00000405109.1 + 6 2186_2187 c.1719_1720insT c.(1717-1722)attggafs p.G574fs KBTBD12_ENST00000407609.3_Frame_Shift_Ins_p.G181fs|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Frame_Shift_Ins_p.G149fs|KBTBD12_ENST00000405256.1_Frame_Shift_Ins_p.G574fs Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 574 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 CCAAAGAAATATTGGAACTGGA 0.450 30 98 --- --- --- --- ZNF732 654254 broad.mit.edu 37 4 289840 289840 + Frame_Shift_Del DEL G G - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:289840delG ENST00000419098.1 - 2 118 c.108delC c.(106-108)aafs p.N36fs NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 GGTTCCTGTAGTTCTCCAACA 0.418 42 68 --- --- --- --- RFC1 5981 broad.mit.edu 37 4 39325005 39325005 + Frame_Shift_Del DEL A A - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:39325005delA ENST00000381897.1 - 7 808 c.675delT c.(673-675)ttfs p.F225fs RFC1_ENST00000349703.2_Frame_Shift_Del_p.F225fs|RFC1_ENST00000418436.1_5'UTR NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 225 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 ATGTTCTGGCAAACTCTTCAT 0.383 32 60 --- --- --- --- PHOX2B 8929 broad.mit.edu 37 4 41750440 41750440 + Frame_Shift_Del DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr4:41750440delC ENST00000226382.2 - 1 547 c.188delG c.(187-189)gafs p.G63fs RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 63 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 GCTGCAGGATCCCGGCGTGAG 0.627 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 34 77 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970504 43970509 + In_Frame_Del DEL GCGGCG GCGGCG - rs72369323 TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:43970504_43970509delGCGGCG ENST00000336600.5 + 4 390_395 c.370_375delGCGGCG c.(370-375)del p.AA130del RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 130 Ala-rich. central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcggcgg 0.772 6 9 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129963071 129963071 + Frame_Shift_Del DEL G G - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:129963071delG ENST00000368149.2 - 2 294 c.206delC c.(205-207)ttfs p.S69fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 69 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) TTCATCCAAAGAATCCTGGGA 0.393 25 84 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152762389 152762390 + Frame_Shift_Ins INS - - A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr6:152762389_152762390insA ENST00000367255.5 - 32 4625_4626 c.4024_4025insT c.(4024-4026)ggafs p.G1342fs SYNE1_ENST00000413186.2_Frame_Shift_Ins_p.G1342fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.G1349fs|SYNE1_ENST00000367253.4_Frame_Shift_Ins_p.G1342fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.G1342fs|SYNE1_ENST00000367248.3_Frame_Shift_Ins_p.G1332fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.G1408fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.G1349fs NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1342 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAATCGCTCCCATTTTCTTAAT 0.317 HNSCC(10;0.0054) 8 11 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 4 2 --- --- --- --- SGK223 157285 broad.mit.edu 37 8 8176185 8176185 + Frame_Shift_Del DEL G G - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:8176185delG ENST00000520004.1 - 6 3964 c.3700delC c.(3700-3702)ggfs p.R1234fs SGK223_ENST00000330777.4_Frame_Shift_Del_p.R1234fs Q86YV5 SG223_HUMAN 1234 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity GGGGCCAGCCGGGCCTGGCTC 0.607 11 9 --- --- --- --- RHOBTB2 23221 broad.mit.edu 37 8 22864461 22864461 + Frame_Shift_Del DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr8:22864461delC ENST00000251822.6 + 5 1240 c.703delC c.(703-705)ccfs p.P236fs RHOBTB2_ENST00000522948.1_Frame_Shift_Del_p.P243fs|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Frame_Shift_Del_p.P258fs|RP11-875O11.1_ENST00000502083.2_RNA NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 236 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) ACCCTTCCTACCCCCCAAGCC 0.692 32 40 --- --- --- --- PTAR1 375743 broad.mit.edu 37 9 72338243 72338247 + Splice_Site DEL TATGA TATGA - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr9:72338243_72338247delTATGA ENST00000377200.5 - 4 707_711 c.710_splice c.e4+1 p.CHR235_splice PTAR1_ENST00000340434.4_Splice_Site_p.CHR314_splice Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 314 protein prenylation protein prenyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 TTTTCTTACCTATGACACCAAAGGG 0.405 16 97 --- --- --- --- KCNJ5 3762 broad.mit.edu 37 11 128781191 128781191 + Frame_Shift_Del DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr11:128781191delC ENST00000529694.1 + 2 399 c.23delC c.(22-24)gcfs p.A8fs KCNJ5_ENST00000533599.1_Frame_Shift_Del_p.A8fs|KCNJ5_ENST00000338350.4_Frame_Shift_Del_p.A8fs NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 8 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCTAGGAATGCCATGAACCAG 0.512 42 91 --- --- --- --- TBX5 6910 broad.mit.edu 37 12 114836517 114836517 + Frame_Shift_Del DEL G G - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr12:114836517delG ENST00000310346.4 - 5 1037 c.371delC c.(370-372)agfs p.T124fs TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Frame_Shift_Del_p.T124fs|TBX5_ENST00000526441.1_Frame_Shift_Del_p.T124fs|TBX5_ENST00000349716.5_Frame_Shift_Del_p.T74fs NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 124 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) AGCTTTGCCCGTCACAGACCT 0.622 3 6 --- --- --- --- ARHGEF7 8874 broad.mit.edu 37 13 111944652 111944652 + Frame_Shift_Del DEL T T - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr13:111944652delT ENST00000375741.2 + 20 2635 c.2385delT c.(2383-2385)tgfs p.C796fs ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000375723.1_Frame_Shift_Del_p.C618fs|ARHGEF7_ENST00000478679.1_Frame_Shift_Del_p.C540fs|ARHGEF7_ENST00000375739.2_Frame_Shift_Del_p.C746fs|ARHGEF7_ENST00000218789.5_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Frame_Shift_Del_p.C775fs|ARHGEF7_ENST00000375737.5_Intron NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 796 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GTAAGAGCTGTTGCTCATATA 0.418 38 67 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25312956 25312957 + RNA INS - - A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:25312956_25312957insA ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA GAGTCCCCCATAAAAACATTCC 0.495 44 141 --- --- --- --- LCTL 197021 broad.mit.edu 37 15 66845350 66845350 + Frame_Shift_Del DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr15:66845350delC ENST00000341509.5 - 9 1300 c.1169delG c.(1168-1170)gafs p.G390fs LCTL_ENST00000537670.1_Frame_Shift_Del_p.G217fs NM_207338.2 NP_997221.2 Q6UWM7 LCTL_HUMAN lactase-like 390 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCTCCTAAATCCCCATGGCAC 0.473 25 151 --- --- --- --- RRN3P1 730092 broad.mit.edu 37 16 21814035 21814035 + RNA DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:21814035delC ENST00000546471.1 - 0 1621 CAATACCCTGCCGGGATGCAT 0.358 17 22 --- --- --- --- DNAJA2 10294 broad.mit.edu 37 16 46998591 46998591 + Frame_Shift_Del DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:46998591delC ENST00000317089.5 - 6 921 c.706delG c.(706-708)aafs p.E236fs NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 236 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) TGGTCTGCTTCCCCAGTGAAT 0.398 31 122 --- --- --- --- C16orf46 123775 broad.mit.edu 37 16 81095289 81095290 + Frame_Shift_Ins INS - - G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr16:81095289_81095290insG ENST00000378611.4 - 3 779_780 c.664_665insC c.(664-666)ggafs p.G222fs C16orf46_ENST00000299578.5_Frame_Shift_Ins_p.G222fs|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 222 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 CAGAACATCCAAAGCATTTGAA 0.535 40 166 --- --- --- --- LOC146880 146880 broad.mit.edu 37 17 62750873 62750873 + RNA DEL G G - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr17:62750873delG ENST00000400873.3 - 0 1841 NR_026899.1 AACATGACCTGAAATAGGCAA 0.378 9 8 --- --- --- --- MYOM1 8736 broad.mit.edu 37 18 3215130 3215145 + Frame_Shift_Del DEL CGCTGGTAGTGACTCA CGCTGGTAGTGACTCA - rs76382984 byFrequency TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr18:3215130_3215145delCGCTGGTAGTGACTCA ENST00000400569.3 - 2 410_425 c.77_92delTGAGTCACTACCAGCG c.(76-93)ggfs p.VSHYQR26fs RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000356443.4_Frame_Shift_Del_p.VSHYQR26fs|MYOM1_ENST00000261606.7_Frame_Shift_Del_p.VSHYQR26fs P52179 MYOM1_HUMAN myomesin 1 26 striated muscle myosin thick filament structural constituent of muscle p.R31L(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTTCTTCTCCCGCTGGTAGTGACTCACGGTGCTGCG 0.639 9 7 --- --- --- --- LRRC37A7P 100421589 broad.mit.edu 37 18 29304177 29304178 + RNA INS - - G TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr18:29304177_29304178insG ENST00000583900.1 + 0 17_18 GCCAGCGTCTCGGGGCTGCCCT 0.634 4 3 --- --- --- --- ZNF100 163227 broad.mit.edu 37 19 21909959 21909959 + Frame_Shift_Del DEL G G - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:21909959delG ENST00000358296.6 - 5 1353 c.1155delC c.(1153-1155)ttfs p.F385fs ZNF100_ENST00000305570.6_Frame_Shift_Del_p.F321fs NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 TAAGGTATGAGAATCGGTAAA 0.398 16 34 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37676536 37676536 + Frame_Shift_Del DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:37676536delC ENST00000532828.2 - 5 2154 c.1903delG c.(1903-1905)tgfs p.V635fs ZNF585B_ENST00000312908.5_Frame_Shift_Del_p.V223fs|ZNF585B_ENST00000531805.1_Frame_Shift_Del_p.V580fs|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCGGCACACACATAGGGTTTC 0.488 38 110 --- --- --- --- ZNF780B 163131 broad.mit.edu 37 19 40554637 40554638 + Frame_Shift_Ins INS - - A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:40554637_40554638insA ENST00000434248.1 - 3 140_141 c.75_76insT c.(73-78)ccatcafs p.S26fs ZNF780B_ENST00000221355.6_5'UTR|ZNF780B_ENST00000598845.1_Frame_Shift_Ins_p.S26fs NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D26Y(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCCTCTGATCAGGCTGCAGGC 0.470 62 187 --- --- --- --- LIPE-AS1 100996307 broad.mit.edu 37 19 43130686 43130686 + RNA DEL C C - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:43130686delC ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 CTGCGTCCTTCCTTGTGACTC 0.512 67 174 --- --- --- --- ZNF677 342926 broad.mit.edu 37 19 53740783 53740783 + Frame_Shift_Del DEL T T - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:53740783delT ENST00000333952.4 - 5 1362 c.1197delA c.(1195-1197)ggfs p.G399fs ZNF677_ENST00000598513.1_Frame_Shift_Del_p.G399fs Q86XU0 ZN677_HUMAN zinc finger protein 677 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AAGGCTTCTCTCCAGTATGGA 0.393 28 99 --- --- --- --- ZNF135 7694 broad.mit.edu 37 19 58578848 58578849 + Frame_Shift_Ins INS - - A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chr19:58578848_58578849insA ENST00000506786.1 + 5 1424_1425 c.870_871insA c.(868-873)ggaagcfs p.S291fs ZNF135_ENST00000511556.1_Frame_Shift_Ins_p.S345fs|ZNF135_ENST00000439855.2_Frame_Shift_Ins_p.S333fs|ZNF135_ENST00000401053.4_Frame_Shift_Ins_p.S357fs|ZNF135_ENST00000359978.6_Frame_Shift_Ins_p.S345fs|ZNF135_ENST00000313434.5_Frame_Shift_Ins_p.S333fs B4DHH9 B4DHH9_HUMAN zinc finger protein 135 345 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GTGAGTGTGGGAAAGCCTTCCG 0.554 36 29 --- --- --- --- FMR1 2332 broad.mit.edu 37 X 147011726 147011728 + In_Frame_Del DEL TGA TGA - TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5685f3a2-2a81-48a9-87f7-e539425e9bc6 92ce6f8c-0066-4617-820d-5905371d7912 g.chrX:147011726_147011728delTGA ENST00000218200.8 + 7 822_824 c.593_595delTGA c.(592-597)cta>c p.LI198del FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370470.1_In_Frame_Del_p.LI198del|FMR1_ENST00000370471.3_In_Frame_Del_p.LI198del|FMR1_ENST00000334557.6_In_Frame_Del_p.LI198del|FMR1_ENST00000370475.4_In_Frame_Del_p.LI198del|FMR1_ENST00000370477.1_In_Frame_Del_p.LI198del|FMR1_ENST00000439526.2_In_Frame_Del_p.LI198del NM_001185076.1|NM_001185082.1 NP_001172005.1|NP_001172011.1 Q06787 FMR1_HUMAN fragile X mental retardation 1 198 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) AAGTTGTCTCTGATAATGAGAAA 0.409 Fragile X syndrome 26 93 --- --- --- ---