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 PLCZ1 89869 broad.mit.edu 37 12 18847863 18847863 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:18847863G>T ENST00000266505.7 - 12 1705 c.1442C>A c.(1441-1443)cCa>cAa p.P481Q PLCZ1_ENST00000435379.1_Missense_Mutation_p.P286Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.P479Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.P288Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.P344Q|PLCZ1_ENST00000534932.1_Intron|PLCZ1_ENST00000538330.1_Missense_Mutation_p.P263Q Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 481 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAGTGTAATTGGCATACCCTC 0.269000 4 38 1.23904e-05 1.39132e-05 0.014758 1 0 CCNF 899 broad.mit.edu 37 16 2493727 2493727 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr16:2493727G>T ENST00000397066.4 + 9 943 c.855G>T c.(853-855)caG>caT p.Q285H NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 285 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) TCGTCTGCCAGCTATTTCAGG 0.502000 6 69 0.0215528 0.0221026 0.021553 1 0 UNC93A 54346 broad.mit.edu 37 6 167708122 167708122 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:167708122G>T ENST00000230256.3 + 2 380 c.205G>T c.(205-207)Ggg>Tgg p.G69W UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.G69W NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 69 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGGCTGCAAGGGGACCATCAT 0.652000 14 190 6.72482e-11 7.99816e-11 0.024245 1 0 GPR142 350383 broad.mit.edu 37 17 72368126 72368126 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:72368126C>A ENST00000335666.4 + 4 824 c.776C>A c.(775-777)gCc>gAc p.A259D NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 259 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 CGCTACACTGCCCTGTGCCAC 0.682000 4 31 0.00024832 0.000272745 0.009096 1 0 CCT8L2 150160 broad.mit.edu 37 22 17071848 17071848 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr22:17071848C>A ENST00000359963.3 - 1 1852 c.1593G>T c.(1591-1593)gaG>gaT p.E531D NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 531 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GATTCCAGATCTCCTGATGTG 0.438000 31 108 4.4194e-11 5.31916e-11 0.013726 1 0 IMPG2 50939 broad.mit.edu 37 3 100962722 100962722 + Missense_Mutation SNP A A G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:100962722A>G ENST00000193391.7 - 13 2640 c.2453T>C c.(2452-2454)tTg>tCg p.L818S NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 818 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GGTTGGAGGCAATTTGGTAGA 0.448000 12 92 0 0 0.013537 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:152327955G>A ENST00000388718.5 - 3 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(1) 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) GTTGGCCATAGCTAGACTGAC 0.517000 23 411 0 0 0.018920 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315990 30315990 + Silent SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:30315990C>G ENST00000375377.1 - 3 3188 c.3087G>C c.(3085-3087)ggG>ggC p.G1029G NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1029 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGAGCCCTGCCCCCCTCTCTC 0.587000 27 96 0 0 0.027356 0 0 LGALS4 3960 broad.mit.edu 37 19 39292682 39292682 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:39292682C>T ENST00000307751.4 - 9 1252 c.775G>A c.(775-777)Gag>Aag p.E259K NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 259 Beta-galactoside binding (By similarity).|Galectin 2. cell adhesion cytosol|plasma membrane sugar binding NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) TTCTTCTCCTCGGATCCCCAC 0.567000 15 77 0 0 0.028581 0 0 DHRS11 79154 broad.mit.edu 37 17 34954655 34954655 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:34954655G>A ENST00000251312.5 + 3 633 c.421G>A c.(421-423)Gtg>Atg p.V141M DHRS11_ENST00000590554.1_Missense_Mutation_p.V62M NM_024308.3 NP_077284.2 Q6UWP2 DHR11_HUMAN dehydrogenase/reductase (SDR family) member 11 141 extracellular region binding|oxidoreductase activity endometrium(1)|lung(4) 5 GGAGCGGAATGTGGACGATGG 0.587000 12 87 0 0 0.013537 0 0 GC 2638 broad.mit.edu 37 4 72620734 72620734 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr4:72620734G>A ENST00000273951.8 - 9 1468 c.1125C>T c.(1123-1125)tgC>tgT p.C375C GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.C375C|GC_ENST00000504199.1_Silent_p.C394C NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 375 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) CAACATCACAGCATTCACCAA 0.378000 11 48 0 0 0.010729 0 0 WDR96 80217 broad.mit.edu 37 10 105967445 105967445 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:105967445C>A ENST00000357060.3 - 6 988 c.873G>T c.(871-873)aaG>aaT p.K291N WDR96_ENST00000428666.1_Missense_Mutation_p.K291N|WDR96_ENST00000278064.2_Missense_Mutation_p.K221N|WDR96_ENST00000369719.1_Missense_Mutation_p.K221N|WDR96_ENST00000369720.1_Missense_Mutation_p.K221N NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 291 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCTCTTCTATCTTATTAAGTA 0.393000 13 98 0.00010058 0.000111694 0.013537 1 0 MACF1 23499 broad.mit.edu 37 1 39854052 39854052 + Nonsense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:39854052G>T ENST00000564288.1 + 58 16315 c.15538G>T c.(15538-15540)Gaa>Taa p.E5180* MACF1_ENST00000545844.1_Nonsense_Mutation_p.E3118*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5217*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3620*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E3118*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3097*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E3118*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.E5185* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5185 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAGGCCTCTGAAGCAGAGTG 0.468000 5 40 1.23904e-05 1.39132e-05 0.014758 1 0 WDR13 64743 broad.mit.edu 37 X 48457988 48457988 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:48457988G>A ENST00000218056.5 + 4 911 c.406G>A c.(406-408)Gtg>Atg p.V136M WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 136 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 CCCTGGCAGCGTGGTGCCCAC 0.617000 15 98 0 0 0.028581 0 0 ZNF790 388536 broad.mit.edu 37 19 37310699 37310699 + Missense_Mutation SNP A A G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:37310699A>G ENST00000356725.4 - 5 667 c.547T>C c.(547-549)Tca>Cca p.S183P CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GTATGATCTGAACCAGAAATA 0.348000 11 67 0 0 0.008291 0 0 HTR1F 3355 broad.mit.edu 37 3 88040986 88040986 + Nonsense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:88040986C>T ENST00000319595.4 + 1 1141 c.1087C>T c.(1087-1089)Cga>Tga p.R363* NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 363 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) AAAGCTTGTGCGATGTCGATG 0.338000 13 53 0 0 0.016723 0 0 APOB 338 broad.mit.edu 37 2 21233595 21233595 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr2:21233595G>A ENST00000233242.1 - 26 6272 c.6145C>T c.(6145-6147)Ccc>Tcc p.P2049S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2049 Heparin-binding. 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) AATTCTTGGGGCTTCTCAACG 0.373000 11 133 0 0 0.010729 0 0 MME 4311 broad.mit.edu 37 3 154890356 154890356 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:154890356C>T ENST00000460393.1 + 22 2228 c.2108C>T c.(2107-2109)gCg>gTg p.A703V MME_ENST00000462745.1_Missense_Mutation_p.A703V|MME_ENST00000493237.1_Missense_Mutation_p.A703V|MME_ENST00000360490.2_Missense_Mutation_p.A703V|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.A703V NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 703 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CCAGAGTATGCGGTTAACTCC 0.428000 13 128 0 0 0.006122 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768196 140768196 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:140768196G>T ENST00000519479.1 + 1 745 c.745G>T c.(745-747)Gtg>Ttg p.V249L PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTATACAGGGTGAGCCTTTC 0.517000 22 137 6.21321e-17 7.70898e-17 0.016522 1 0 MYH1 4619 broad.mit.edu 37 17 10399767 10399767 + Nonsense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:10399767C>A ENST00000226207.5 - 34 4850 c.4756G>T c.(4756-4758)Gaa>Taa p.E1586* CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1586 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGTCAATTTCCTCATCTTTT 0.453000 22 87 4.35082e-09 5.11412e-09 0.010504 1 0 UBE4B 10277 broad.mit.edu 37 1 10132157 10132157 + Silent SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:10132157C>A ENST00000343090.6 + 2 171 c.96C>A c.(94-96)ccC>ccA p.P32P UBE4B_ENST00000253251.8_Silent_p.P32P|UBE4B_ENST00000377153.1_Silent_p.P32P|UBE4B_ENST00000377157.3_5'UTR NM_001105562.2 NP_001099032.1 O95155 UBE4B_HUMAN ubiquitination factor E4B 32 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TCACCTCTCCCCAGAGGGAGA 0.597000 17 47 1.33834e-09 1.58239e-09 0.007413 1 0 BICC1 80114 broad.mit.edu 37 10 60461890 60461890 + Silent SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:60461890C>A ENST00000373886.3 + 3 298 c.294C>A c.(292-294)gcC>gcA p.A98A NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 98 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 AGATCGGAGCCAAATCCAAGA 0.373000 6 33 0.00116845 0.00124263 0.021553 1 0 LRP12 29967 broad.mit.edu 37 8 105521200 105521200 + Missense_Mutation SNP A A G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr8:105521200A>G ENST00000276654.5 - 3 347 c.239T>C c.(238-240)aTa>aCa p.I80T LRP12_ENST00000424843.2_Missense_Mutation_p.I61T NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 80 CUB 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTTTGCCCTTATGAACCAGCT 0.368000 7 82 0 0 0.003080 0 0 TENM2 57451 broad.mit.edu 37 5 167645811 167645811 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:167645811C>T ENST00000519204.1 + 22 4670 c.4552C>T c.(4552-4554)Cgt>Tgt p.R1518C TENM2_ENST00000403607.2_Missense_Mutation_p.R1463C|TENM2_ENST00000520394.1_Missense_Mutation_p.R1400C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1638C|TENM2_ENST00000518659.1_Missense_Mutation_p.R1639C teneurin transmembrane protein 2 CCTGAAGATCCGTCGGGACAG 0.507000 18 93 0 0 0.004990 0 0 PCDH7 5099 broad.mit.edu 37 4 30723146 30723146 + Silent SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr4:30723146C>G ENST00000361762.2 + 1 1110 c.102C>G c.(100-102)ctC>ctG p.L34L PCDH7_ENST00000543491.1_Silent_p.L34L NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 34 Cadherin 1. 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 AGCAGCTCCTCCGGTACCGGC 0.711000 8 13 0 0 0.003080 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870578 51870578 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr20:51870578C>T ENST00000371497.5 + 2 1468 c.581C>T c.(580-582)tCg>tTg p.S194L TSHZ2_ENST00000603338.2_Missense_Mutation_p.S191L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S191L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 194 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CTGTTCAGCTCGGTGCAGTTG 0.562000 8 40 0 0 0.004482 0 0 LRMP 4033 broad.mit.edu 37 12 25259893 25259893 + Nonsense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:25259893G>T ENST00000354454.3 + 20 1994 c.1165G>T c.(1165-1167)Gag>Tag p.E389* LRMP_ENST00000547044.1_Nonsense_Mutation_p.E389*|LRMP_ENST00000548766.1_Nonsense_Mutation_p.E389* NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 445 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AGATGACTCAGAGCCATCTGG 0.303000 5 33 0.0215528 0.0221026 0.021553 1 0 NPAS4 266743 broad.mit.edu 37 11 66191816 66191816 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:66191816G>A ENST00000311034.2 + 7 1631 c.1455G>A c.(1453-1455)ctG>ctA p.L485L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 485 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTAGCCCACTGCAAGGCCAGT 0.557000 136 217 0 0 0.014410 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500809 90500809 + Silent SNP A A C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr9:90500809A>C ENST00000325643.5 + 4 1473 c.1407A>C c.(1405-1407)gtA>gtC p.V469V NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CACACTCTGTACCACTGGATA 0.582000 21 205 0 0 0.014323 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 26 47 0 0 0.018920 0 0 UBC 7316 broad.mit.edu 37 12 125398024 125398024 + Silent SNP G G A rs1138413 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:125398024G>A ENST00000536769.1 - 1 1870 c.294C>T c.(292-294)acC>acT p.T98T UBC_ENST00000546120.1_Silent_p.T98T|UBC_ENST00000339647.5_Silent_p.T98T|UBC_ENST00000538617.1_Silent_p.T98T P0CG48 UBC_HUMAN ubiquitin C 98 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CGTTCTCGATGGTGTCACTGG 0.562000 8 202 0 0 0.006214 0 0 GPR64 10149 broad.mit.edu 37 X 19039220 19039220 + Splice_Site SNP A A G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:19039220A>G ENST00000354791.3 - 13 837 c.e13+1 GPR64_ENST00000340581.3_Splice_Site|GPR64_ENST00000356606.4_Splice_Site|GPR64_ENST00000357991.3_Splice_Site|GPR64_ENST00000379873.2_Splice_Site|GPR64_ENST00000360279.4_Splice_Site|GPR64_ENST00000379869.3_Splice_Site|GPR64_ENST00000379878.3_Splice_Site|GPR64_ENST00000379876.1_Splice_Site|GPR64_ENST00000357544.3_Splice_Site Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TAGACAACTTACCCATTGGTC 0.284000 4 68 0 0 0.009096 0 0 CTD-3099C6.5 0 broad.mit.edu 37 19 53015473 53015473 + RNA SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:53015473G>A ENST00000599143.1 - 0 122 CACAGATCACGCCTTAAAAGA 0.403000 10 59 0 0 0.006214 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72020216 72020216 + Nonsense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:72020216C>A ENST00000378743.3 - 22 4499 c.4141G>T c.(4141-4143)Gaa>Taa p.E1381* NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1381 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCCAAGGATTCTGAGCACTCC 0.353000 16 54 4.7546e-09 5.55625e-09 0.028581 1 0 SNHG14 104472715 broad.mit.edu 37 15 25470243 25470243 + RNA SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr15:25470243C>A ENST00000453082.2 + 0 1011 NR_003343.1 ACCCCCGATGCGCTGAAGCTC 0.607000 19 37 5.3912e-06 6.12221e-06 0.006122 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140745472 140745472 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:140745472G>C ENST00000518069.1 + 1 1575 c.1575G>C c.(1573-1575)ttG>ttC p.L525F PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_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) ATGAGCAGTTGAGAGACCTAC 0.527000 19 146 0 0 0.010504 0 0 HECTD4 283450 broad.mit.edu 37 12 112681213 112681213 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:112681213G>A ENST00000550722.1 - 32 4859 c.4464C>T c.(4462-4464)gtC>gtT p.V1488V HECTD4_ENST00000430131.2_Silent_p.V1212V|HECTD4_ENST00000377560.5_Silent_p.V1462V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCACTCCCCCGACTCGTACGG 0.547000 5 13 0 0 0.014758 0 0 HPS1 3257 broad.mit.edu 37 10 100195167 100195167 + Missense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:100195167C>G ENST00000325103.6 - 5 493 c.260G>C c.(259-261)gGa>gCa p.G87A HPS1_ENST00000338546.5_Missense_Mutation_p.G87A|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.G87A NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 87 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CAGGCATTCTCCAAACTGCAG 0.597000 Hermansky-Pudlak syndrome 5 55 0 0 0.014758 0 0 CA10 56934 broad.mit.edu 37 17 49710870 49710870 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:49710870G>C ENST00000451037.2 - 8 1871 c.931C>G c.(931-933)Cca>Gca p.P311A CA10_ENST00000570565.1_Missense_Mutation_p.P236A|CA10_ENST00000442502.2_Missense_Mutation_p.P311A|CA10_ENST00000340813.6_Missense_Mutation_p.P317A|CA10_ENST00000285273.4_Missense_Mutation_p.P311A NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 311 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CGGTTGTTTGGACAGTCCTTC 0.507000 16 53 0 0 0.008871 0 0 DOCK11 139818 broad.mit.edu 37 X 117815169 117815169 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:117815169G>C ENST00000276204.6 + 50 5894 c.5820G>C c.(5818-5820)atG>atC p.M1940I DOCK11_ENST00000276202.7_Missense_Mutation_p.M1940I Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1940 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ACGTGGACATGATTCAGCTCC 0.373000 29 86 0 0 0.009535 0 0 THOC2 57187 broad.mit.edu 37 X 122837338 122837338 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:122837338C>T ENST00000245838.8 - 4 271 c.240G>A c.(238-240)atG>atA p.M80I THOC2_ENST00000355725.4_Missense_Mutation_p.M80I NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 80 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GAATGGAGGGCATATCCTCAC 0.308000 5 80 0 0 0.021553 0 0 TMEM131 23505 broad.mit.edu 37 2 98411468 98411468 + Nonsense_Mutation SNP A A C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr2:98411468A>C ENST00000186436.5 - 29 3539 c.3311T>G c.(3310-3312)tTa>tGa p.L1104* NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1104 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 ACAGGTTGCTAACATATGGTA 0.403000 11 22 0 0 0.010729 0 0 SLC30A10 55532 broad.mit.edu 37 1 220088985 220088985 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:220088985G>C ENST00000366926.3 - 4 1425 c.1264C>G c.(1264-1266)Ctg>Gtg p.L422V SLC30A10_ENST00000536446.1_Missense_Mutation_p.L177V|SLC30A10_ENST00000484079.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 422 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ACGTGAGCCAGAGGCAGTGCC 0.567000 31 61 0 0 0.009535 0 0 ZNF239 8187 broad.mit.edu 37 10 44052206 44052206 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:44052206C>A ENST00000306006.6 - 2 1974 c.1322G>T c.(1321-1323)aGc>aTc p.S441I ZNF239_ENST00000535642.1_Missense_Mutation_p.S441I|ZNF239_ENST00000374446.2_Missense_Mutation_p.S441I|ZNF239_ENST00000426961.1_Missense_Mutation_p.S441I NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGAGCTCTGGCTGAAGCCCTT 0.502000 5 28 0.00116845 0.00124263 0.021553 1 0 DOPEY1 23033 broad.mit.edu 37 6 83834483 83834483 + Nonsense_Mutation SNP T T A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:83834483T>A ENST00000349129.2 + 13 1660 c.1400T>A c.(1399-1401)tTa>tAa p.L467* DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.L458*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.L458* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 467 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCATCTGAATTACAGCTGACC 0.368000 13 164 0 0 0.024245 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256490 140256490 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:140256490C>T ENST00000398631.2 + 1 1433 c.1433C>T c.(1432-1434)tCg>tTg p.S478L PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCACGGTGTCGGCATGGGAC 0.657000 10 86 0 0 0.008291 0 0 TRIOBP 11078 broad.mit.edu 37 22 38165092 38165092 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr22:38165092G>A ENST00000406386.3 + 20 6888 c.6633G>A c.(6631-6633)caG>caA p.Q2211Q RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Silent_p.Q498Q NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2211 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGTACTCGCAGAAGTGCCTGG 0.637000 16 52 0 0 0.004990 0 0 KMT2D 8085 broad.mit.edu 37 12 49443617 49443617 + Nonsense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:49443617G>A ENST00000301067.7 - 11 3753 c.3754C>T c.(3754-3756)Cga>Tga p.R1252* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCTCATCTCGGGCTGGACTA 0.597000 24 96 0 0 0.021523 0 0 LINC00471 151477 broad.mit.edu 37 2 232378246 232378246 + RNA SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr2:232378246T>C ENST00000313064.2 - 0 355 NR_024079.1 ACCTCATCTCTACTGCCATTG 0.363000 8 72 0 0 0.004482 0 0 ASTN2 23245 broad.mit.edu 37 9 119976991 119976991 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr9:119976991G>C ENST00000313400.4 - 3 761 c.661C>G c.(661-663)Ctg>Gtg p.L221V ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.L221V|ASTN2_ENST00000373996.3_Missense_Mutation_p.L221V O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GTGAACACCAGCAGCAGCAGC 0.602000 3 45 0 0 0.004672 0 0 OR1L4 254973 broad.mit.edu 37 9 125486388 125486388 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr9:125486388G>A ENST00000259466.1 + 1 120 c.120G>A c.(118-120)gcG>gcA p.A40A NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A40A(1) breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 TACTCACTGCGGTGGGGAATG 0.517000 15 145 0 0 0.020292 0 0 CALCA 796 broad.mit.edu 37 11 14989343 14989343 + Silent SNP T T G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:14989343T>G ENST00000361010.3 - 4 359 c.285A>C c.(283-285)gcA>gcC p.A95A CALCA_ENST00000486207.1_Silent_p.A95A|CALCB_ENST00000523376.1_Intron NM_001033953.2 NP_001029125.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 95 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) TCAGCAAGCCTGCCAGCCGAT 0.542000 10 75 0 0 0.006214 0 0 NUP93 9688 broad.mit.edu 37 16 56865770 56865770 + Nonsense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr16:56865770G>T ENST00000564887.1 + 9 1362 c.733G>T c.(733-735)Gaa>Taa p.E245* NUP93_ENST00000308159.5_Nonsense_Mutation_p.E368*|NUP93_ENST00000542526.1_Nonsense_Mutation_p.E245*|NUP93_ENST00000569842.1_Nonsense_Mutation_p.E368* NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 368 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCCAGCTACGGAAAACAAGCT 0.493000 4 47 0.00909568 0.00942387 0.009096 1 0 IGKV3-20 28912 broad.mit.edu 37 2 89442213 89442213 + RNA SNP A A G rs61737744 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr2:89442213A>G ENST00000492167.1 - 0 243 GGAGCCTGGGAGCCTGGCCAG 0.582000 9 75 0 0 0.008291 0 0 MACF1 23499 broad.mit.edu 37 1 39854051 39854051 + Silent SNP T T A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:39854051T>A ENST00000564288.1 + 58 16314 c.15537T>A c.(15535-15537)tcT>tcA p.S5179S MACF1_ENST00000545844.1_Silent_p.S3117S|MACF1_ENST00000567887.1_Silent_p.S5216S|MACF1_ENST00000289893.4_Silent_p.S3619S|MACF1_ENST00000361689.2_Silent_p.S3117S|MACF1_ENST00000539005.1_Silent_p.S3096S|MACF1_ENST00000317713.7_Silent_p.S3117S|MACF1_ENST00000372915.3_Silent_p.S5184S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5184 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TAGAGGCCTCTGAAGCAGAGT 0.468000 5 40 0 0 0.014758 0 0 ETS1 2113 broad.mit.edu 37 11 128354827 128354827 + Silent SNP C C G rs142070153 byFrequency TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:128354827C>G ENST00000392668.3 - 7 821 c.753G>C c.(751-753)tcG>tcC p.S251S ETS1_ENST00000526145.1_Silent_p.S207S|ETS1_ENST00000319397.5_Silent_p.S207S|ETS1_ENST00000345075.4_Silent_p.S207S|ETS1_ENST00000531611.1_Silent_p.S207S|ETS1_ENST00000535549.1_Intron NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 207 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GGAGAATGACCGAGGGGTAGT 0.517000 27 55 0 0 0.027356 0 0 RYR3 6263 broad.mit.edu 37 15 34040341 34040341 + Silent SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr15:34040341G>T ENST00000389232.4 + 54 8086 c.8016G>T c.(8014-8016)gcG>gcT p.A2672A RYR3_ENST00000415757.3_Silent_p.A2672A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2672 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.A2672A(1) 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) GCTGGCCTGCGCGAGAGTCCC 0.522000 9 63 0.000442599 0.000478293 0.006214 1 0 HERC2 8924 broad.mit.edu 37 15 28459109 28459109 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr15:28459109C>T ENST00000261609.7 - 42 6673 c.6565G>A c.(6565-6567)Gag>Aag p.E2189K NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2189 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGTAGTCCTCTAACTGGGCC 0.572000 4 27 0 0 0.009096 0 0 DYRK1B 9149 broad.mit.edu 37 19 40318983 40318983 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:40318983G>T ENST00000593685.1 - 6 1229 c.761C>A c.(760-762)gCc>gAc p.A254D DYRK1B_ENST00000323039.5_Missense_Mutation_p.A254D|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A254D|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A254D|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A254D Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 254 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) AATCTTGATGGCGCTGCGCTT 0.622000 6 31 0.00307968 0.00324092 0.003080 1 0 ZNF644 84146 broad.mit.edu 37 1 91406244 91406244 + Missense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:91406244C>G ENST00000370440.1 - 3 884 c.667G>C c.(667-669)Gag>Cag p.E223Q ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E223Q|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCACCCACCTCTACTTGATTT 0.373000 35 171 0 0 0.017118 0 0 EPHA10 284656 broad.mit.edu 37 1 38227731 38227731 + Missense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:38227731C>G ENST00000373048.4 - 3 195 c.196G>C c.(196-198)Gaa>Caa p.E66Q EPHA10_ENST00000319637.6_Missense_Mutation_p.E66Q|EPHA10_ENST00000427468.2_Missense_Mutation_p.E66Q NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 66 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGGTCGTGTTCATCCACGCCG 0.617000 8 56 0 0 0.003080 0 0 USP17L2 377630 broad.mit.edu 37 8 11995148 11995148 + Missense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr8:11995148C>G ENST00000333796.3 - 1 1438 c.1122G>C c.(1120-1122)caG>caC p.Q374H FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 374 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 ATTCACTCTTCTGGATGTAAA 0.517000 4 52 0 0 0.001984 0 0 BSX 390259 broad.mit.edu 37 11 122848470 122848470 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:122848470C>T ENST00000343035.2 - 3 637 c.589G>A c.(589-591)Gcc>Acc p.A197T NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 197 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 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;0.0361) GCCTCGGCGGCGGTGGCGGCC 0.672000 3 27 0 0 0.009096 0 0 MED12 9968 broad.mit.edu 37 X 70347860 70347860 + Silent SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:70347860C>G ENST00000333646.6 + 22 3298 c.3099C>G c.(3097-3099)acC>acG p.T1033T MED12_ENST00000374102.1_Silent_p.T1033T|MED12_ENST00000374080.3_Silent_p.T1033T NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1033 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CAGCTCACACCTTCACCTACA 0.527000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 68 0 0 0.004482 0 0 ELL 8178 broad.mit.edu 37 19 18632829 18632829 + Missense_Mutation SNP A A G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:18632829A>G ENST00000262809.4 - 1 108 c.37T>C c.(37-39)Tcg>Ccg p.S13P NM_006532.3 NP_006523.1 P55199 ELL_HUMAN elongation factor RNA polymerase II 13 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) CGCCCGCACGACAGCCCGTAG 0.697000 T MLL AL 3 33 0 0 0.009096 0 0 MEIS3 56917 broad.mit.edu 37 19 47909780 47909780 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:47909780G>A ENST00000331559.5 - 12 1610 c.1169C>T c.(1168-1170)tCa>tTa p.S390L MEIS3_ENST00000559524.1_Missense_Mutation_p.S407L|MEIS3_ENST00000441740.2_Missense_Mutation_p.S344L|MEIS3_ENST00000561293.1_Missense_Mutation_p.S407L|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000558555.1_Missense_Mutation_p.S361L|MEIS3_ENST00000561096.1_Missense_Mutation_p.S449L NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 361 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CATCCCCACTGATCCTGGAAG 0.507000 12 94 0 0 0.016723 0 0 LRIT1 26103 broad.mit.edu 37 10 85992510 85992510 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:85992510G>T ENST00000372105.3 - 4 1066 c.1045C>A c.(1045-1047)Ccg>Acg p.P349T NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 349 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GTGGAAGTCGGTGGCTCAGTG 0.567000 3 35 0.004672 0.00486566 0.004672 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 37 0 0 0.021553 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154523418 154523418 + Silent SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:154523418T>C ENST00000292211.4 - 12 1312 c.1233A>G c.(1231-1233)aaA>aaG p.K411K NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 411 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCTCACCGTTTTTTTCGTGGA 0.532000 49 129 0 0 0.014410 0 0 IQGAP2 10788 broad.mit.edu 37 5 75906864 75906864 + Silent SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:75906864C>T ENST00000274364.6 + 13 1674 c.1377C>T c.(1375-1377)taC>taT p.Y459Y IQGAP2_ENST00000396234.3_Silent_p.Y12Y|IQGAP2_ENST00000379730.3_Silent_p.Y18Y|IQGAP2_ENST00000502745.1_Silent_p.Y12Y NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 459 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CTGTAGGGTACATCAATGAAG 0.398000 8 57 0 0 0.006214 0 0 GSPT2 23708 broad.mit.edu 37 X 51486870 51486870 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:51486870C>T ENST00000340438.4 + 1 390 c.148C>T c.(148-150)Cgt>Tgt p.R50C NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 50 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GGCTTTCAGCCGTAAGCTCAA 0.697000 10 38 0 0 0.008291 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998267 27998267 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:27998267G>C ENST00000441525.1 - 1 1299 c.1185C>G c.(1183-1185)tgC>tgG p.C395W NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 395 p.C395C(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TGTACACAACGCAGGTGATGT 0.418000 24 81 0 0 0.024334 0 0 ATR 545 broad.mit.edu 37 3 142274981 142274981 + Splice_Site SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:142274981T>C ENST00000350721.4 - 10 2200 c.2078_splice c.e10-1 p.I693_splice ATR_ENST00000383101.3_Splice_Site_p.I629_splice NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 693 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGACTTTATCTCTGGGGAAAA 0.338000 Other conserved DNA damage response genes 9 80 0 0 0.004482 0 0 ELOVL3 83401 broad.mit.edu 37 10 103989006 103989006 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:103989006G>T ENST00000370005.3 + 4 1031 c.810G>T c.(808-810)caG>caT p.Q270H NM_152310.1 NP_689523.1 Q9HB03 ELOV3_HUMAN ELOVL fatty acid elongase 3 270 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CCAAGAGCCAGTGAAGGTTTG 0.493000 OREG0020475 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 41 0.004672 0.00486566 0.004672 1 0 PANX1 24145 broad.mit.edu 37 11 93911630 93911630 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:93911630G>C ENST00000227638.3 + 3 802 c.417G>C c.(415-417)ttG>ttC p.L139F PANX1_ENST00000436171.2_Missense_Mutation_p.L139F NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 139 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCTCAGACTTGAAGTTTATCA 0.493000 9 42 0 0 0.006214 0 0 FBP2 8789 broad.mit.edu 37 9 97346868 97346868 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr9:97346868G>C ENST00000375337.3 - 3 483 c.417C>G c.(415-417)atC>atG p.I139M NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 139 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) CCTTTCTATAGATGGCAAAGA 0.493000 6 39 0 0 0.021553 0 0 RNASE12 493901 broad.mit.edu 37 14 21058750 21058750 + Missense_Mutation SNP A A C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr14:21058750A>C ENST00000556526.1 - 1 232 c.133T>G c.(133-135)Tac>Gac p.Y45D RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|AL163195.3_ENST00000555283.1_RNA NM_001024822.2 NP_001019993.1 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 45 extracellular region nucleic acid binding|pancreatic ribonuclease activity kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) TGGTTGCAGTACCTTGCAGGA 0.443000 17 61 0 0 0.028581 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766752 77766752 + Missense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr8:77766752C>G ENST00000521891.2 + 10 8043 c.7595C>G c.(7594-7596)cCc>cGc p.P2532R ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2506R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2487R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2487R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2487 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) TTGGAAAGGCCCATGGACATG 0.527000 HNSCC(33;0.089) 12 98 0 0 0.013537 0 0 KRT37 8688 broad.mit.edu 37 17 39577792 39577792 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:39577792G>A ENST00000225550.3 - 6 1067 c.1068C>T c.(1066-1068)ggC>ggT p.G356G AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 356 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CCAGCTCTGTGCCGTAGCGGT 0.562000 22 39 0 0 0.016522 0 0 CHGB 1114 broad.mit.edu 37 20 5904039 5904039 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr20:5904039C>T ENST00000378961.4 + 4 1453 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 417 R -> H (in dbSNP:rs742711). extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GGGAAAGGGACGCCATCACAG 0.532000 6 67 0 0 0.021553 0 0 GABRA3 2556 broad.mit.edu 37 X 151336737 151336737 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:151336737C>A ENST00000370314.4 - 10 1680 c.1442G>T c.(1441-1443)cGg>cTg p.R481L RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.R481L|GABRA3_ENST00000370311.1_Missense_Mutation_p.R481L NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 481 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|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGCTGACTCCCGGTTGACATA 0.493000 8 88 5.18039e-06 5.95005e-06 0.003080 1 0 PCDH11X 27328 broad.mit.edu 37 X 91090649 91090649 + Missense_Mutation SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:91090649T>C ENST00000373094.1 + 1 991 c.146T>C c.(145-147)tTg>tCg p.L49S PCDH11X_ENST00000361655.2_Missense_Mutation_p.L49S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L49S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L49S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L49S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L49S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 49 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding 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 GACCTTAACTTGTCGCTGATT 0.473000 11 88 0 0 0.010729 0 0 FBXO18 84893 broad.mit.edu 37 10 5958323 5958323 + Silent SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:5958323T>C ENST00000379999.5 + 11 1949 c.1845T>C c.(1843-1845)ttT>ttC p.F615F FBXO18_ENST00000362091.4_Silent_p.F564F|FBXO18_ENST00000397269.3_Silent_p.F51F|FBXO18_ENST00000379994.1_Silent_p.F301F NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 564 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 AAAACTTCTTTGCCTCGGCTG 0.468000 6 98 0 0 0.001984 0 0 ITGAD 3681 broad.mit.edu 37 16 31419085 31419085 + Splice_Site SNP A A T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr16:31419085A>T ENST00000389202.2 + 9 907 c.e9-1 NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCTCTGCTGCAGGTGGGACAC 0.622000 8 31 0 0 0.003080 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 62 0 0 0.021553 0 0 MB21D2 151963 broad.mit.edu 37 3 192516360 192516360 + Nonsense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:192516360G>A ENST00000392452.2 - 2 1611 c.1291C>T c.(1291-1293)Cga>Tga p.R431* NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 431 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GTGCTACCTCGCCTCTGGAGC 0.607000 9 119 0 0 0.006214 0 0 SLC16A6 9120 broad.mit.edu 37 17 66268877 66268877 + Silent SNP A A G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:66268877A>G ENST00000327268.4 - 5 572 c.408T>C c.(406-408)acT>acC p.T136T ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.T136T NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 136 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GGATGGTTACAGTTGGGAGAA 0.423000 10 61 0 0 0.010729 0 0 VCAM1 7412 broad.mit.edu 37 1 101186049 101186049 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:101186049G>C ENST00000294728.2 + 2 183 c.82G>C c.(82-84)Gag>Cag p.E28Q VCAM1_ENST00000370115.1_Missense_Mutation_p.E28Q|VCAM1_ENST00000347652.2_Missense_Mutation_p.E28Q|VCAM1_ENST00000370119.4_Missense_Mutation_p.E28Q NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 28 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.E28*(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTTTAAAATCGAGACCACCCC 0.413000 8 111 0 0 0.008291 0 0 RNF41 10193 broad.mit.edu 37 12 56604300 56604300 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:56604300G>A ENST00000345093.4 - 4 512 c.143C>T c.(142-144)tCt>tTt p.S48F RNF41_ENST00000552244.1_Missense_Mutation_p.S48F|RNF41_ENST00000552656.1_Missense_Mutation_p.S48F|RNF41_ENST00000394013.2_5'UTR NM_005785.3|NM_194359.2 NP_005776.1|NP_919340.1 Q9H4P4 RNF41_HUMAN ring finger protein 41 48 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 11 CTGTTGCTGAGAGAACCACTG 0.532000 12 38 0 0 0.020292 0 0 TTN 7273 broad.mit.edu 37 2 179592514 179592514 + Silent SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr2:179592514T>C ENST00000589042.1 - 68 20015 c.19791A>G c.(19789-19791)ctA>ctG p.L6597L TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L6280L|TTN_ENST00000342992.6_Silent_p.L5353L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6280 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) GTGTTCCTTTTAGTATTGCCT 0.393000 16 157 0 0 0.028581 0 0 FGD5 152273 broad.mit.edu 37 3 14965561 14965561 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:14965561G>A ENST00000285046.5 + 17 4094 c.3984G>A c.(3982-3984)tcG>tcA p.S1328S FGD5_ENST00000543601.1_Silent_p.S1087S|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1328 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCCGCTTCTCGGGCAGTGCCT 0.572000 8 53 0 0 0.004482 0 0 C15orf54 400360 broad.mit.edu 37 15 39544747 39544747 + Silent SNP T T G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr15:39544747T>G ENST00000318578.3 + 2 779 c.411T>G c.(409-411)cgT>cgG p.R137R RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.R137R|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 137 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) CAACAAAGCGTGTGTGCACTA 0.473000 14 101 0 0 0.024245 0 0 CUBN 8029 broad.mit.edu 37 10 17126316 17126316 + Missense_Mutation SNP T T A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:17126316T>A ENST00000377833.4 - 17 2320 c.2255A>T c.(2254-2256)cAc>cTc p.H752L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 752 CUB 3. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGCTCCACGTGGGTGAAGTT 0.438000 7 62 0 0 0.003080 0 0 KRT71 112802 broad.mit.edu 37 12 52938396 52938396 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:52938396G>A ENST00000267119.5 - 9 1561 c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 498 Tail. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) GCACTGCCCCGGCTCCTGCCC 0.622000 32 105 0 0 0.008361 0 0 TRIM71 131405 broad.mit.edu 37 3 32931948 32931948 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:32931948G>A ENST00000383763.4 + 4 1315 c.1252G>A c.(1252-1254)Gtg>Atg p.V418M NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 418 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATCAGTGCCGTGCAGCAGGT 0.597000 5 62 0 0 0.014758 0 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986075 31986075 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr21:31986075C>A ENST00000329122.2 - 1 174 c.149G>T c.(148-150)gGc>gTc p.G50V NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 50 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 GGAGCCATAGCCATAGCCACA 0.592000 19 111 5.03518e-11 6.02424e-11 0.007413 1 0 ZNF569 148266 broad.mit.edu 37 19 37904514 37904514 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:37904514G>T ENST00000316950.6 - 6 1603 c.1046C>A c.(1045-1047)aCa>aAa p.T349K ZNF569_ENST00000392149.2_Missense_Mutation_p.T349K|ZNF569_ENST00000392150.2_Missense_Mutation_p.T190K NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTTCTCCTGTATGACTTCT 0.368000 11 107 0.000978159 0.00105139 0.010729 1 0 PEG3 5178 broad.mit.edu 37 19 57325822 57325822 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:57325822G>T ENST00000326441.9 - 10 4351 c.3988C>A c.(3988-3990)Cca>Aca p.P1330T ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1206T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1330T|PEG3_ENST00000593695.1_Missense_Mutation_p.P1204T NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1330 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCATAGAATGGTATAGCTCCT 0.423000 16 46 7.05477e-17 8.69943e-17 0.004990 1 0 LRIF1 55791 broad.mit.edu 37 1 111494331 111494331 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:111494331C>A ENST00000369763.4 - 2 1565 c.1175G>T c.(1174-1176)aGa>aTa p.R392I LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 CGTGTCTTTTCTTACTGGAGT 0.388000 33 237 2.08457e-15 2.55487e-15 0.010818 1 0 LOC101927079 101927079 broad.mit.edu 37 15 22332523 22332523 + RNA SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr15:22332523G>T ENST00000558896.1 + 0 330 CATTGCTATTGTCCTGGGAAA 0.388000 23 244 2.32416e-17 2.90159e-17 0.014323 1 0 CYFIP1 23191 broad.mit.edu 37 15 22990179 22990179 + Silent SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr15:22990179G>C ENST00000313077.7 + 24 2924 c.2799G>C c.(2797-2799)ctG>ctC p.L933L CYFIP1_ENST00000560848.1_Silent_p.L933L|CYFIP1_ENST00000435939.2_Silent_p.L502L NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 933 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGGAGGAGCTGCTGAAGGTCG 0.582000 6 69 0 0 0.003080 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734296 28734296 + RNA SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr14:28734296G>T ENST00000550043.1 + 0 701 CATCGGATTGGGGATCTATAT 0.463000 12 28 4.3838e-07 5.09332e-07 0.016723 1 0 PAK1 5058 broad.mit.edu 37 11 77066805 77066805 + Missense_Mutation SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:77066805T>C ENST00000356341.3 - 7 1211 c.680A>G c.(679-681)aAt>aGt p.N227S PAK1_ENST00000278568.4_Missense_Mutation_p.N227S|PAK1_ENST00000530617.1_Missense_Mutation_p.N227S|PAK1_ENST00000525542.1_Intron|PAK1_ENST00000528203.1_Missense_Mutation_p.N129S NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 227 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) AGTGGTGTTATTTTCAGTAGG 0.443000 36 69 0 0 0.017118 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677887 54677887 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:54677887G>A ENST00000245615.1 - 8 1750 c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 424 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCCAGTACCGAAGGGTGTCG 0.647000 16 88 0 0 0.024245 0 0 NOP14 8602 broad.mit.edu 37 4 2954030 2954030 + Missense_Mutation SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr4:2954030T>C ENST00000416614.2 - 6 907 c.842A>G c.(841-843)gAa>gGa p.E281G NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.E281G|NOP14_ENST00000398071.4_Missense_Mutation_p.E281G|NOP14_ENST00000502735.1_Missense_Mutation_p.E281G P78316 NOP14_HUMAN NOP14 nucleolar protein 281 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 CTCCTGCTCTTCCTTTGCCAA 0.567000 17 48 0 0 0.010504 0 0 TTLL4 9654 broad.mit.edu 37 2 219610493 219610493 + Silent SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr2:219610493C>T ENST00000392102.1 + 7 2206 c.1866C>T c.(1864-1866)acC>acT p.T622T TTLL4_ENST00000457313.1_Silent_p.T457T|TTLL4_ENST00000442769.1_Silent_p.T622T|TTLL4_ENST00000258398.4_Silent_p.T622T NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 622 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCAAGCAGACCATTGGACGGT 0.512000 4 24 0 0 0.014758 0 0 ALPK3 57538 broad.mit.edu 37 15 85401044 85401044 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr15:85401044G>A ENST00000258888.5 + 6 3848 c.3681G>A c.(3679-3681)caG>caA p.Q1227Q NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1227 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACCTGGTGCAGAGTGCACAGA 0.672000 13 35 0 0 0.028581 0 0 DIS3 22894 broad.mit.edu 37 13 73350163 73350163 + Missense_Mutation SNP A A C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr13:73350163A>C ENST00000377767.4 - 5 822 c.722T>G c.(721-723)aTa>aGa p.I241R DIS3_ENST00000545453.1_Missense_Mutation_p.I79R|DIS3_ENST00000377780.4_Missense_Mutation_p.I211R NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 241 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ACCAGATTTTATGCCTTGCTG 0.358000 Multiple Myeloma(4;0.011) 10 28 0 0 0.010729 0 0 NXPH4 11247 broad.mit.edu 37 12 57619422 57619422 + Silent SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:57619422C>A ENST00000349394.5 + 2 994 c.819C>A c.(817-819)ccC>ccA p.P273P NM_007224.3 NP_009155.1 O95158 NXPH4_HUMAN neurexophilin 4 273 V (Cys-rich). neuropeptide signaling pathway extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 10 GTGCCAAGCCCTTCAAAGTCA 0.577000 18 49 5.3912e-06 6.12221e-06 0.006122 1 0 PLA2G4A 5321 broad.mit.edu 37 1 186909195 186909195 + Silent SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:186909195C>T ENST00000367466.3 + 10 1154 c.1002C>T c.(1000-1002)gtC>gtT p.V334V PLA2G4A_ENST00000442353.2_Silent_p.V274V NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 334 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GTCTTCATGTCAAACCTGACG 0.418000 5 87 0 0 0.014758 0 0 ACTA2 59 broad.mit.edu 37 10 90707105 90707105 + Silent SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:90707105C>G ENST00000458208.1 - 3 642 c.168G>C c.(166-168)gtG>gtC p.V56V STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Silent_p.V56V NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 56 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CTTCGTCACCCACGTAGCTGT 0.473000 34 117 0 0 0.015359 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123201903 123201903 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr9:123201903C>T ENST00000349780.4 - 24 3675 c.3496G>A c.(3496-3498)Ggg>Agg p.G1166R CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.G1125R|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.G1134R|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.G1166R NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1166 Interaction with MAPRE1. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 ATTTCTTCCCCATCAGAACCA 0.512000 OREG0019438 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 42 0 0 0.006122 0 0 ATP2B1 490 broad.mit.edu 37 12 90010659 90010659 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:90010659C>T ENST00000428670.3 - 12 2443 c.1987G>A c.(1987-1989)Gag>Aag p.E663K ATP2B1_ENST00000348959.3_Missense_Mutation_p.E663K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E663K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E406K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E663K P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 663 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TTATCCCACTCTGGTTCTGGT 0.428000 22 131 0 0 0.027356 0 0 PC 5091 broad.mit.edu 37 11 66638327 66638327 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:66638327C>T ENST00000393960.1 - 8 951 c.670G>A c.(670-672)Gct>Act p.A224T PC_ENST00000393955.2_Missense_Mutation_p.A224T|PC_ENST00000524491.1_Missense_Mutation_p.A184T|PC_ENST00000355677.3_Missense_Mutation_p.A224T|PC_ENST00000393958.2_Missense_Mutation_p.A224T NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 224 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GCGGCCAGAGCCTCTGAGTAG 0.637000 35 214 0 0 0.012213 0 0 OAS1 4938 broad.mit.edu 37 12 113346624 113346624 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:113346624C>T ENST00000452357.2 + 2 654 c.464C>T c.(463-465)gCc>gTc p.A155V OAS1_ENST00000553185.1_Missense_Mutation_p.A155V|OAS1_ENST00000202917.5_Missense_Mutation_p.A155V|OAS1_ENST00000445409.2_Missense_Mutation_p.A155V|OAS1_ENST00000551241.1_Missense_Mutation_p.A155V|RP1-71H24.1_ENST00000552784.1_RNA NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 155 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GCCTTTGATGCCCTGGGTGAG 0.582000 12 106 0 0 0.024245 0 0 LBP 3929 broad.mit.edu 37 20 36975003 36975003 + Silent SNP C C T rs149360570 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr20:36975003C>T ENST00000217407.2 + 1 245 c.84C>T c.(82-84)ccC>ccT p.P28P NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 28 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GTGCCAACCCCGGCTTGGTCG 0.612000 7 47 0 0 0.001984 0 0 SYNE1 23345 broad.mit.edu 37 6 152631904 152631904 + Silent SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:152631904T>C ENST00000367255.5 - 88 17416 c.16815A>G c.(16813-16815)caA>caG p.Q5605Q SYNE1_ENST00000423061.1_Silent_p.Q5534Q|SYNE1_ENST00000341594.5_Silent_p.Q5217Q|SYNE1_ENST00000448038.1_Silent_p.Q5534Q|SYNE1_ENST00000265368.4_Silent_p.Q5605Q|SYNE1_ENST00000356820.4_Silent_p.Q129Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5605 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) GTTCTGCCACTTGCTGAGACA 0.413000 HNSCC(10;0.0054) 15 20 0 0 0.020292 0 0 OR52N1 79473 broad.mit.edu 37 11 5809578 5809578 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:5809578G>T ENST00000317078.1 - 1 468 c.469C>A c.(469-471)Ctt>Att p.L157I TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 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) GGGATAACAAGCATCACACCC 0.507000 9 35 0.000442599 0.000478293 0.006214 1 0 PCDH11X 27328 broad.mit.edu 37 X 91090730 91090730 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:91090730G>A ENST00000373094.1 + 1 1072 c.227G>A c.(226-228)cGa>cAa p.R76Q PCDH11X_ENST00000361655.2_Missense_Mutation_p.R76Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R76Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R76Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R76Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R76Q NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 76 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding 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 CCACTGATTCGAATTGAAGAG 0.438000 21 141 0 0 0.016522 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 52 0 0 0.021553 0 0 LRRC14B 389257 broad.mit.edu 37 5 195405 195405 + Silent SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:195405C>T ENST00000328278.3 + 2 1510 c.1482C>T c.(1480-1482)ttC>ttT p.F494F NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 494 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 TTGGTGCTTTCTTGCTGCAAG 0.473000 17 46 0 0 0.028581 0 0 F11 2160 broad.mit.edu 37 4 187208888 187208888 + Nonsense_Mutation SNP G G T rs142952627 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr4:187208888G>T ENST00000264692.4 + 14 1804 c.1471G>T c.(1471-1473)Gaa>Taa p.E491* F11_ENST00000403665.2_Nonsense_Mutation_p.E543*|RP11-215A19.1_ENST00000505103.1_RNA P03951 FA11_HUMAN coagulation factor XI 543 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGTGACCAACGAAGAGTGCCA 0.408000 8 68 0.000157383 0.000173813 0.003080 1 0 CCDC19 25790 broad.mit.edu 37 1 159842833 159842833 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:159842833C>T ENST00000426543.2 - 11 1678 c.1223G>A c.(1222-1224)cGg>cAg p.R408Q CCDC19_ENST00000368099.4_Missense_Mutation_p.R493Q|CCDC19_ENST00000476696.1_5'UTR Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 493 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GGTGGCAATCCGGTTCTGCAC 0.597000 6 77 0 0 0.021553 0 0 KCNC3 3748 broad.mit.edu 37 19 50826961 50826961 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:50826961G>A ENST00000376959.2 - 2 1412 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C KCNC3_ENST00000477616.1_Missense_Mutation_p.R417C|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 417 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) CGGACGAAGCGGACCACCCGC 0.657000 10 31 0 0 0.008291 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271479 26271479 + Missense_Mutation SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:26271479C>A ENST00000305910.3 - 1 133 c.134G>T c.(133-135)gGc>gTc p.G45V NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 45 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 AGCCACGGTGCCGGGACGGTA 0.642000 9 80 0.00010058 0.000111694 0.013537 1 0 SCN10A 6336 broad.mit.edu 37 3 38739930 38739930 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:38739930C>T ENST00000449082.2 - 27 4780 c.4781G>A c.(4780-4782)cGc>cAc p.R1594H NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1594 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GAGCAGTGTGCGGATCCCCTT 0.537000 8 90 0 0 0.006214 0 0 OR6N1 128372 broad.mit.edu 37 1 158735880 158735880 + Missense_Mutation SNP A A G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:158735880A>G ENST00000335094.2 - 1 612 c.593T>C c.(592-594)gTa>gCa p.V198A NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AACAAAATCTACTAGGACATT 0.483000 10 90 0 0 0.010729 0 0 SHC1 6464 broad.mit.edu 37 1 154938440 154938440 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:154938440G>A ENST00000448116.2 - 10 1589 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W SHC1_ENST00000368445.5_Missense_Mutation_p.R456W|SHC1_ENST00000368450.1_Missense_Mutation_p.R346W|SHC1_ENST00000606391.1_Missense_Mutation_p.R257W|SHC1_ENST00000368449.4_Missense_Mutation_p.R227W|SHC1_ENST00000368453.4_Missense_Mutation_p.R347W NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 456 CH1.|Pro-rich. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity p.R347W(1)|p.R457W(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AACAGGTCCCGGGGTGCACTG 0.562000 26 91 0 0 0.006320 0 0 PPFIA1 8500 broad.mit.edu 37 11 70224267 70224267 + Silent SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:70224267C>T ENST00000253925.7 + 26 3731 c.3516C>T c.(3514-3516)tcC>tcT p.S1172S AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Silent_p.S1172S NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1172 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CTATGTCTTCCCCCTCTATGC 0.488000 20 215 0 0 0.016522 0 0 ZNF562 54811 broad.mit.edu 37 19 9764328 9764328 + Missense_Mutation SNP A A G rs61743320 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:9764328A>G ENST00000448622.1 - 6 740 c.578T>C c.(577-579)gTg>gCg p.V193A ZNF562_ENST00000541032.1_Missense_Mutation_p.V156A|ZNF562_ENST00000453372.2_Missense_Mutation_p.V193A|ZNF562_ENST00000293648.4_Missense_Mutation_p.V121A|ZNF562_ENST00000537617.1_Missense_Mutation_p.V77A|ZNF562_ENST00000590155.1_Missense_Mutation_p.V192A|ZNF562_ENST00000453792.2_Missense_Mutation_p.V124A NM_001130031.1|NM_001130032.1 NP_001123503.1|NP_001123504.1 Q6V9R5 ZN562_HUMAN zinc finger protein 562 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 TTCAAGATGCACAGCAAGGCC 0.403000 8 65 0 0 0.003080 0 0 C8B 732 broad.mit.edu 37 1 57415426 57415426 + Splice_Site SNP C C A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:57415426C>A ENST00000543257.1 - 7 1077 c.e7-1 C8B_ENST00000535057.1_Splice_Site|C8B_ENST00000371237.4_Splice_Site NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGCCTTGGGTCTAAAGAAGAA 0.368000 8 26 6.5536e-12 7.93538e-12 0.003080 1 0 MAP1B 4131 broad.mit.edu 37 5 71494067 71494067 + Missense_Mutation SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:71494067G>T ENST00000296755.7 + 5 5183 c.4885G>T c.(4885-4887)Gca>Tca p.A1629S NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1629 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CCCTAAAACTGCAAAGTCCAG 0.443000 7 102 0.00307968 0.00324092 0.003080 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274157 39274157 + Silent SNP G G A rs145503152 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:39274157G>A ENST00000391413.2 - 1 449 c.411C>T c.(409-411)ccC>ccT p.P137P NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 137 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.P137P(3) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) tgctgcagctggggtggcagc 0.672000 7 22 0 0 0.001984 0 0 TAPBPL 55080 broad.mit.edu 37 12 6566666 6566666 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:6566666G>C ENST00000266556.7 + 4 825 c.660G>C c.(658-660)ttG>ttC p.L220F TAPBPL_ENST00000544021.1_Missense_Mutation_p.L143F|TAPBPL_ENST00000545700.1_3'UTR NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 220 Ig-like V-type. antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 CACCGGGCTTGGACCTCATCA 0.622000 12 74 0 0 0.010729 0 0 CASR 846 broad.mit.edu 37 3 121980531 121980531 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:121980531G>A ENST00000498619.1 + 4 1087 c.649G>A c.(649-651)Gac>Aac p.D217N CASR_ENST00000490131.1_Missense_Mutation_p.D217N|CASR_ENST00000296154.5_Missense_Mutation_p.D217N NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 217 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGCTGATGACGACTATGGGCG 0.537000 10 127 0 0 0.006214 0 0 NAV3 89795 broad.mit.edu 37 12 78400890 78400890 + Silent SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:78400890C>G ENST00000397909.2 + 8 1745 c.1572C>G c.(1570-1572)tcC>tcG p.S524S NAV3_ENST00000266692.7_Silent_p.S524S|NAV3_ENST00000536525.2_Silent_p.S524S|NAV3_ENST00000228327.6_Silent_p.S524S Q8IVL0 NAV3_HUMAN neuron navigator 3 524 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 TTCCGTCTTCCAGTGGTATTC 0.448000 HNSCC(70;0.22) 13 69 0 0 0.016723 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 118 0 0 0.014758 0 0 OR10A2 341276 broad.mit.edu 37 11 6891559 6891559 + Missense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:6891559C>G ENST00000307322.4 + 1 636 c.574C>G c.(574-576)Ctg>Gtg p.L192V NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CGGAACCATTCTGGTGGTCAT 0.502000 20 106 0 0 0.008871 0 0 CCDC138 165055 broad.mit.edu 37 2 109463283 109463283 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr2:109463283G>A ENST00000295124.4 + 12 1473 c.1413G>A c.(1411-1413)caG>caA p.Q471Q CCDC138_ENST00000412964.2_Silent_p.Q471Q NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 471 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 ATTCTCCACAGCATTCTGTGG 0.363000 4 69 0 0 0.009096 0 0 REPS2 9185 broad.mit.edu 37 X 17072947 17072947 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:17072947G>C ENST00000357277.3 + 8 1159 c.988G>C c.(988-990)Gac>Cac p.D330H REPS2_ENST00000303843.7_Missense_Mutation_p.D329H|REPS2_ENST00000380064.4_Missense_Mutation_p.D190H NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 330 EF-hand.|EH 2. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) TAGTGATGCTGACTGTGATGG 0.512000 8 83 0 0 0.006214 0 0 CNNM1 26507 broad.mit.edu 37 10 101090475 101090475 + Nonsense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr10:101090475C>G ENST00000356713.4 + 1 1620 c.1331C>G c.(1330-1332)tCa>tGa p.S444* CNNM1_ENST00000370534.4_Nonsense_Mutation_p.S79*|CNNM1_ENST00000370528.3_Nonsense_Mutation_p.S373*|CNNM1_ENST00000446890.1_Nonsense_Mutation_p.S373* NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 444 CBS 1. S -> P (in Ref. 4; AAH98307). ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) ATGCTGCGCTCAGACGCGGTG 0.612000 8 47 0 0 0.006214 0 0 HMGB3 3149 broad.mit.edu 37 X 150156302 150156302 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:150156302C>T ENST00000325307.7 + 5 614 c.518C>T c.(517-519)gCt>gTt p.A173V HMGB3_ENST00000448905.2_Missense_Mutation_p.A173V NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 173 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.A173D(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) AAGGGTCCTGCTAAAGTTGCC 0.443000 5 84 0 0 0.021553 0 0 OR10H4 126541 broad.mit.edu 37 19 16060695 16060695 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:16060695G>A ENST00000322107.1 + 1 878 c.878G>A c.(877-879)aGc>aAc p.S293N NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 ATCATTTTCAGCCTAAGGAAC 0.448000 44 95 0 0 0.014410 0 0 SLC13A1 6561 broad.mit.edu 37 7 122787224 122787224 + Silent SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr7:122787224C>T ENST00000194130.2 - 7 840 c.801G>A c.(799-801)gaG>gaA p.E267E SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 267 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TATTGAAATACTCTGCAAAGA 0.368000 4 25 0 0 0.014758 0 0 KLHL9 55958 broad.mit.edu 37 9 21333736 21333736 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr9:21333736G>A ENST00000359039.4 - 1 1643 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W KLHL9_ENST00000537938.1_Missense_Mutation_p.R307W Q9P2J3 KLHL9_HUMAN kelch-like family member 9 375 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody p.R375W(1) endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) TTATTATACCGAGGATCAAAT 0.383000 29 65 0 0 0.009535 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762772 130762772 + Missense_Mutation SNP G G C rs148429620 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:130762772G>C ENST00000392429.1 + 2 3583 c.1205G>C c.(1204-1206)cGg>cCg p.R402P TMEM200A_ENST00000296978.3_Missense_Mutation_p.R402P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R402P NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 402 integral to membrane p.R402Q(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GACTTAGACCGGGGTCCCTCC 0.502000 7 82 0 0 0.001984 0 0 ARID1A 8289 broad.mit.edu 37 1 27106228 27106228 + Nonsense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:27106228C>T ENST00000324856.7 + 20 6210 c.5839C>T c.(5839-5841)Cag>Tag p.Q1947* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1730*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q275*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1564* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1947 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TAGCCCAGCACAGAGCCACCG 0.532000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 18 73 0 0 0.008871 0 0 CENPI 2491 broad.mit.edu 37 X 100403043 100403043 + Missense_Mutation SNP A A T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:100403043A>T ENST00000372927.1 + 19 2264 c.1987A>T c.(1987-1989)Att>Ttt p.I663F CENPI_ENST00000218507.5_Missense_Mutation_p.I663F|CENPI_ENST00000423383.1_Missense_Mutation_p.I663F NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 663 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AGGAATATATATTGACCCTGA 0.363000 16 178 0 0 0.006122 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 40 0 0 0.009096 0 0 CDC27 996 broad.mit.edu 37 17 45235606 45235606 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:45235606G>A ENST00000066544.3 - 5 534 c.441C>T c.(439-441)ttC>ttT p.F147F CDC27_ENST00000446365.2_Silent_p.F86F|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Silent_p.F147F|CDC27_ENST00000531206.1_Silent_p.F147F NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 147 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GAGACCAGAGGAAAGGATTTA 0.418000 6 54 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7579377 7579377 + Nonsense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:7579377G>A ENST00000420246.2 - 4 442 c.310C>T c.(310-312)Cag>Tag p.Q104* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 104 Interaction with HIPK1 (By similarity).|Interaction with WWOX. Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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) TAGCTGCCCTGGTAGGTTTTC 0.632000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 57 0 0 0.006122 0 0 GPR182 11318 broad.mit.edu 37 12 57389441 57389441 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:57389441G>A ENST00000300098.1 + 2 667 c.448G>A c.(448-450)Gac>Aac p.D150N NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 150 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 CCTCAGTGTCGACCGCTATGT 0.597000 12 71 0 0 0.010729 0 0 ANKHD1 54882 broad.mit.edu 37 5 139921779 139921779 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr5:139921779C>T ENST00000297183.6 + 34 7716 c.7592C>T c.(7591-7593)cCt>cTt p.P2531L ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P2531L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTTCAGTCCCTGCTCTCAAA 0.453000 7 42 0 0 0.004482 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227248 43227248 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr17:43227248G>A ENST00000332499.2 + 1 2565 c.691G>A c.(691-693)Gcc>Acc p.A231T NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 231 Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCGGGCCGCCGCCAAATCCGA 0.622000 19 49 0 0 0.010504 0 0 PCSK2 5126 broad.mit.edu 37 20 17462541 17462541 + Missense_Mutation SNP G G C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr20:17462541G>C ENST00000262545.2 + 12 2058 c.1743G>C c.(1741-1743)aaG>aaC p.K581N PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.K562N|PCSK2_ENST00000536609.1_Missense_Mutation_p.K546N NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 581 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCGCAGAAGGGGGTGCTGA 0.617000 6 32 0 0 0.001984 0 0 MYH15 22989 broad.mit.edu 37 3 108195321 108195321 + Missense_Mutation SNP C C T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:108195321C>T ENST00000273353.3 - 13 1272 c.1216G>A c.(1216-1218)Gag>Aag p.E406K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 406 Myosin head-like. 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 TTTACCAACTCAGAGGAGTTA 0.393000 6 29 0 0 0.021553 0 0 NPTX2 4885 broad.mit.edu 37 7 98256574 98256574 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr7:98256574G>A ENST00000265634.3 + 4 1151 c.986G>A c.(985-987)gGa>gAa p.G329E NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 329 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TTCCAGGACGGAGAGAAGCTG 0.642000 15 44 0 0 0.020292 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938023 116938023 + Silent SNP A A G rs145831200 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:116938023A>G ENST00000229554.5 + 1 374 c.237A>G c.(235-237)acA>acG p.T79T RSPH4A_ENST00000368581.4_Silent_p.T79T|RSPH4A_ENST00000368580.4_Silent_p.T79T NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 79 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GACCAGAAACATCATCACCTG 0.657000 Kartagener syndrome 13 57 0 0 0.013537 0 0 ACAP3 116983 broad.mit.edu 37 1 1236026 1236026 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:1236026G>A ENST00000354700.5 - 6 587 c.385C>T c.(385-387)Cgg>Tgg p.R129W ACAP3_ENST00000353662.3_Missense_Mutation_p.R87W NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 129 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 AGGTCCTCCCGCACCTTGTCA 0.647000 11 45 0 0 0.013537 0 0 HNRNPU 3192 broad.mit.edu 37 1 245019248 245019248 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr1:245019248G>A ENST00000444376.2 - 11 2302 c.2068C>T c.(2068-2070)Cgt>Tgt p.R690C HNRNPU_ENST00000283179.9_Missense_Mutation_p.R709C NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 709 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) AATCCTCCACGTCCTCTATGG 0.403000 12 206 0 0 0.013537 0 0 BAI3 577 broad.mit.edu 37 6 70071087 70071087 + Missense_Mutation SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:70071087T>C ENST00000370598.1 + 29 4743 c.3922T>C c.(3922-3924)Tat>Cat p.Y1308H BAI3_ENST00000238918.8_Missense_Mutation_p.Y514H|BAI3_ENST00000546190.1_Missense_Mutation_p.Y272H NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1308 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) GGAAAGTGACTATATTGTGAT 0.398000 6 50 0 0 0.021553 0 0 OSBPL11 114885 broad.mit.edu 37 3 125282600 125282600 + Missense_Mutation SNP C C G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:125282600C>G ENST00000296220.5 - 7 1245 c.956G>C c.(955-957)aGt>aCt p.S319T NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 319 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 CACCGGCTTACTCTGATCAGT 0.413000 13 67 0 0 0.016723 0 0 CUL4B 8450 broad.mit.edu 37 X 119672528 119672528 + Silent SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:119672528G>T ENST00000371322.5 - 13 1900 c.1839C>A c.(1837-1839)tcC>tcA p.S613S CUL4B_ENST00000336592.6_Silent_p.S618S|CUL4B_ENST00000404115.3_Silent_p.S631S NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 631 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTTTAAGTTTGGACAGCATTG 0.383000 25 103 7.26314e-15 8.84783e-15 0.007291 1 0 ASTN2 23245 broad.mit.edu 37 9 119770538 119770538 + Splice_Site SNP C C T rs139435569 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr9:119770538C>T ENST00000313400.4 - 7 1524 c.1423_splice c.e7-1 p.G475_splice ASTN2_ENST00000373996.3_Splice_Site_p.G475_splice|ASTN2_ENST00000361209.2_Splice_Site_p.G424_splice|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 475 integral to membrane p.G424E(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GAAGCTGCTTCCTATGGGTGA 0.498000 8 46 0 0 0.003080 0 0 WDR62 284403 broad.mit.edu 37 19 36593683 36593683 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr19:36593683G>A ENST00000401500.2 + 27 3300 c.3265G>A c.(3265-3267)Gaa>Aaa p.E1089K WDR62_ENST00000270301.7_Missense_Mutation_p.E1084K NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 1084 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTCTGAAGCTGAAGACCACTT 0.617000 5 36 0 0 0.014758 0 0 BTN2A2 10385 broad.mit.edu 37 6 26392973 26392973 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr6:26392973G>A ENST00000356709.4 + 8 1461 c.1350G>A c.(1348-1350)ctG>ctA p.L450L BTN2A2_ENST00000482536.1_Silent_p.L240L|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000352867.2_Silent_p.L334L|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Silent_p.L450L NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 450 B30.2/SPRY. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 GCGTCTTCCTGGACTATGAAG 0.547000 10 101 0 0 0.008291 0 0 TOPBP1 11073 broad.mit.edu 37 3 133358856 133358856 + Missense_Mutation SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr3:133358856G>A ENST00000260810.5 - 13 2311 c.2180C>T c.(2179-2181)aCg>aTg p.T727M NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 727 BRCT 5. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TCTCTTTCCCGTTCTAGCAGT 0.363000 Other conserved DNA damage response genes 10 42 0 0 0.013537 0 0 OR4C12 283093 broad.mit.edu 37 11 50003965 50003965 + Missense_Mutation SNP T T G TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr11:50003965T>G ENST00000335238.4 - 1 106 c.73A>C c.(73-75)Acg>Ccg p.T25P NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 ACTACAAACGTGACTTTCTCC 0.408000 6 54 0 0 0.001984 0 0 TMBIM4 51643 broad.mit.edu 37 12 66539718 66539718 + Translation_Start_Site SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:66539718T>C ENST00000544599.1 - 0 866 TMBIM4_ENST00000286424.7_Missense_Mutation_p.I170V|TMBIM4_ENST00000539652.1_Missense_Mutation_p.I123V|TMBIM4_ENST00000358230.3_Missense_Mutation_p.I123V|TMBIM4_ENST00000398033.4_Missense_Mutation_p.I123V|TMBIM4_ENST00000542724.1_Missense_Mutation_p.I92V|TMBIM4_ENST00000556010.1_Missense_Mutation_p.I123V Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TGCAGAATAATATATACATCA 0.303000 10 41 0 0 0.006214 0 0 FGD1 2245 broad.mit.edu 37 X 54492144 54492144 + Silent SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:54492144G>T ENST00000375135.3 - 7 2215 c.1482C>A c.(1480-1482)atC>atA p.I494I NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 494 DH. 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 CCTCATGGATGATGACTTTAA 0.562000 6 71 5.9392e-07 6.8608e-07 0.021553 1 0 FAT1 2195 broad.mit.edu 37 4 187540153 187540154 + Frame_Shift_Ins INS - - T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr4:187540153_187540154insT ENST00000441802.2 - 10 7795_7796 c.7586_7587insA c.(7585-7587)tcafs p.S2529fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2529 Cadherin 23. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTACAATATGGTAAGTAACGTG 0.411 HNSCC(5;0.00058) 41 100 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 5 10 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 7 201 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 13 235 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 14 150 --- --- --- --- DICER1 23405 broad.mit.edu 37 14 95562901 95562901 + Frame_Shift_Del DEL A A - TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr14:95562901delA ENST00000526495.1 - 25 4647 c.4356delT c.(4354-4356)ttfs p.F1452fs DICER1_ENST00000343455.3_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.F1452fs|DICER1_ENST00000556045.1_Frame_Shift_Del_p.F350fs Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1452 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TATTATCTATAAATCTGATAT 0.413 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 11 67 --- --- --- --- PRR25 388199 broad.mit.edu 37 16 855518 855523 + In_Frame_Del DEL GCAGCT GCAGCT - rs137876084 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chr16:855518_855523delGCAGCT ENST00000301698.1 + 1 76_81 c.76_81delGCAGCT c.(76-81)del p.AA26del NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 26 large_intestine(1)|lung(1)|skin(1) 3 CACGGGTGGGGCAGCTGCACACCCCA 0.631 11 6 --- --- --- --- GPM6B 2824 broad.mit.edu 37 X 13825851 13825851 + Frame_Shift_Del DEL G G - rs112718705 TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:13825851delG ENST00000316715.4 - 2 536 c.99delC c.(97-99)cafs p.H33fs GPM6B_ENST00000355135.2_Frame_Shift_Del_p.H33fs|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000493677.1_Frame_Shift_Del_p.H7fs|GPM6B_ENST00000454189.2_Intron NM_001001995.1 NP_001001995.1 Q13491 GPM6B_HUMAN glycoprotein M6B 20 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 GGTACATCCAGTGGTACCTGC 0.517 11 135 --- --- --- --- FANCB 2187 broad.mit.edu 37 X 14871234 14871235 + Frame_Shift_Ins INS - - T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eb3f291-082c-48a8-b653-09264342adee f3de3c44-abb1-4a38-945c-cbdd7dd132a5 g.chrX:14871234_14871235insT ENST00000398334.1 - 6 1519_1520 c.1252_1253insA c.(1252-1254)tatfs p.Y418fs FANCB_ENST00000324138.3_Frame_Shift_Ins_p.Y418fs NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 418 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TTTTGAAATAATTTTTTCCTTA 0.312 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 82 --- --- --- ---