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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut OR4Q3 441669 broad.mit.edu 37 14 20216441 20216442 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20216441_20216442CC>TT uc010tkt.2 + 0 855_856 c.855_856CC>TT c.(853-858)cccctc>ccTTtc p.L286F NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTGAACCCCCTCATCTACAC 0.416000 39 17 0 0 0.004672 0 0 DHRS12 79758 broad.mit.edu 37 13 52373720 52373720 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:52373720C>A uc001vfq.3 - 1 188 c.140G>T c.(139-141)gGa>gTa p.G47V DHRS12_uc001vfr.1_Nonsense_Mutation_p.E26*|DHRS12_uc001vfs.1_Nonsense_Mutation_p.E26* A0PJE2 DHR12_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 12 (DHRS12), transcript variant 2, mRNA. 47 binding|oxidoreductase activity cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 7 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) GCTGTTTCCTCCAGTGACCAA 0.527000 85 36 1.03484e-13 1.05861e-13 0.005524 1 0 CELSR1 9620 broad.mit.edu 37 22 46860109 46860109 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:46860109G>A uc003bhw.1 - 1 3678 c.3678C>T c.(3676-3678)ctC>ctT p.L1226L NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1226 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCTCCACGAAGAGGGCCAGCA 0.602000 29 20 0 0 0.010504 0 0 ZNF718 255403 broad.mit.edu 37 4 59433 59433 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:59433G>A uc003fzv.1 + 1 270 c.114G>A c.(112-114)agG>agA p.R38R ZNF718_uc003fzt.4_Silent_p.R38R|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron NM_182524 NP_872330 Q3SXZ3 ZN718_HUMAN Homo sapiens zinc finger protein 595 (ZNF595), mRNA. 38 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) AGAACTACAGGAACCTGGTCT 0.438000 360 14 0 0 0.006122 0 0 TRIM39-RPP21 202658 broad.mit.edu 37 6 30298623 30298623 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:30298623C>T uc010jrz.3 + 3 831 c.519C>T c.(517-519)tcC>tcT p.S173S TRIM39-RPP21_uc003npz.3_Silent_p.S173S|TRIM39-RPP21_uc003nqb.3_Silent_p.S173S|TRIM39-RPP21_uc003nqc.3_Silent_p.S173S|TRIM39-RPP21_uc010jsa.2_Silent_p.S173S NM_021253 NP_067076 A6ZJ12 A6ZJ12_HUMAN Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA. 85 intracellular zinc ion binding GCTGCAAGTCCTCTGAGGAGA 0.517000 36 7 0 0 0.003080 0 0 COPG1 22820 broad.mit.edu 37 3 128976410 128976410 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:128976410C>T uc003els.3 + 8 777 c.677C>T c.(676-678)cCc>cTc p.P226L COPG1_uc010htb.3_Missense_Mutation_p.P132L NM_016128 NP_057212 Q9Y678 COPG_HUMAN Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA. 226 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity CTTAAGTCTCCCTTTGCCTAC 0.542000 102 47 0 0 0.003610 0 0 AL117485 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:18844888A>G uc002zoe.3 + 3 c.2142A>G AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. GCTCACGGAAATACAGCTTCA 0.587000 63 5 0 0 0.000602 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122172 12122172 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:12122172C>T uc003nac.3 + 3 2323 c.2144C>T c.(2143-2145)aCc>aTc p.T715I HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 715 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCTCTTGTCACCACGTCAACA 0.532000 38 5 0 0 0.001168 0 0 ME1 4199 broad.mit.edu 37 6 84117513 84117513 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:84117513G>A uc003pjy.3 - 1 451 c.186C>T c.(184-186)ttC>ttT p.F62F ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron NM_002395 NP_002386 P48163 MAOX_HUMAN Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA. 62 NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCAGATGCTCGAAATTTTTTA 0.383000 50 23 0 0 0.002780 0 0 CARD6 84674 broad.mit.edu 37 5 40853623 40853624 + Missense_Mutation DNP AC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:40853623_40853624AC>TT uc003jmg.3 + 2 2264_2265 c.2189_2190AC>TT c.(2188-2190)aac>aTT p.N730I NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 730 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GTTCTAGAGAACTCCTGGCTCT 0.500000 157 46 0 0 0.004672 0 0 TAB1 10454 broad.mit.edu 37 22 39777762 39777762 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:39777762C>T uc003axq.4 + 3 607 c.545C>T c.(544-546)tCc>tTc p.S182F TAB1_uc003axr.3_Intron NM_004711 NP_004702 Q15750 TAB1_HUMAN Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA. 229 PP2C-like. I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GCCCTCTTCTCCCAGGACTAC 0.687000 43 18 0 0 0.001882 0 0 PCSK5 5125 broad.mit.edu 37 9 78796501 78796501 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:78796501G>A uc004akc.2 + 15 2729 c.2191G>A c.(2191-2193)Gat>Aat p.D731N PCSK5_uc004ajz.3_Missense_Mutation_p.D731N|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Silent_p.R5R NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 731 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTCATATCAGGATACCAGTAA 0.433000 30 14 0 0 0.002450 0 0 USP1 7398 broad.mit.edu 37 1 62911009 62911009 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:62911009A>G uc001daj.2 + 5 1486 c.1158A>G c.(1156-1158)gaA>gaG p.E386E USP1_uc001dak.2_Silent_p.E386E|USP1_uc001dal.2_Silent_p.E386E NM_001017415 NP_003359 O94782 UBP1_HUMAN Homo sapiens ubiquitin specific peptidase 1 (USP1), transcript variant 2, mRNA. 386 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) GGAAGTGTGAAAGTGATAACA 0.348000 20 6 0 0 0.001168 0 0 DNAH17 8632 broad.mit.edu 37 17 76540046 76540046 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:76540046C>T uc010dhp.2 - 16 2550 c.2425G>A c.(2425-2427)Gac>Aac p.D809N DNAH17_uc002jvv.2_Missense_Mutation_p.D511N NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCTTATTGTCCTTTCTTTCA 0.502000 54 55 0 0 0.003610 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6311588 6311589 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:6311588_6311589CC>TT uc002kmz.4 - 2 196_197 c.36_37GG>AA c.(34-39)atggat>atAAat p.12_13MD>IN L3MBTL4_uc002kmy.4_Missense_Mutation_p.12_13MD>IN|L3MBTL4_uc010dkt.3_Missense_Mutation_p.12_13MD>IN NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 12 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TCTTTGGAATCCATATTAAGCT 0.485000 138 40 0 0 0.004672 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503114 140503114 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140503114C>T uc003lip.1 + 0 1534 c.1534C>T c.(1534-1536)Ctg>Ttg p.L512L NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 512 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACGGCCACCTGTTCGCCCT 0.692000 87 22 0 0 0.003271 0 0 NDST1 3340 broad.mit.edu 37 5 149901282 149901282 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:149901282G>A uc003lsk.4 + 1 968 c.466G>A c.(466-468)Gac>Aac p.D156N NDST1_uc011dcj.2_Missense_Mutation_p.D156N|NDST1_uc003lsl.3_Missense_Mutation_p.D156N NM_001543 NP_001534 P52848 NDST1_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA. 156 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGCTGCTGGACAAGTACTG 0.587000 98 39 0 0 0.002852 0 0 IL12RB1 3594 broad.mit.edu 37 19 18191674 18191674 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:18191674G>A uc002nhx.1 - 4 548 c.497C>T c.(496-498)tCt>tTt p.S166F IL12RB1_uc002nhw.1_Missense_Mutation_p.S126F|IL12RB1_uc010xqb.1_Missense_Mutation_p.S126F|IL12RB1_uc002nhy.3_Missense_Mutation_p.S126F NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 126 Fibronectin type-III 2. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CACCTCAGGAGACTTCTCTGT 0.582000 44 11 0 0 0.000978 0 0 abParts 0 broad.mit.edu 37 14 106790973 106790973 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106790973C>T uc021ser.1 - 619 c.17419G>A Parts of antibodies, mostly variable regions. AGGTTTGTGTCTGGGCGCACA 0.582000 67 37 0 0 0.004289 0 0 CHST1 8534 broad.mit.edu 37 11 45671428 45671428 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:45671428G>A uc021qgn.1 - 0 1046 c.1046C>T c.(1045-1047)aCc>aTc p.T349I CHST1_uc001mys.2_Missense_Mutation_p.T349I NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 349 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GTTTCGCACGGTGCCGTATTT 0.667000 47 21 0 0 0.002780 0 0 SAMD3 154075 broad.mit.edu 37 6 130536361 130536361 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:130536361C>T uc003qbw.3 - 2 386 c.58G>A c.(58-60)Gag>Aag p.E20K SAMD3_uc003qbx.3_Missense_Mutation_p.E20K|SAMD3_uc010kfg.1_Missense_Mutation_p.E20K|SAMD3_uc003qby.3_Missense_Mutation_p.E20K|SAMD3_uc003qbz.1_5'UTR NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA. 20 SAM. breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TGAACTAGCTCTCCTAAATTT 0.393000 25 7 0 0 0.004482 0 0 LTN1 26046 broad.mit.edu 37 21 30304892 30304892 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:30304892G>A uc002ymr.2 - 27 5121 c.5108C>T c.(5107-5109)cCa>cTa p.P1703L NM_015565 NP_056380 O94822 LTN1_HUMAN Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA. 1657 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TGAACCCAGTGGATAATTTGA 0.418000 73 40 0 0 0.005524 0 0 RELN 5649 broad.mit.edu 37 7 103143606 103143606 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:103143606G>A uc022ajr.1 - 51 8506 c.8346C>T c.(8344-8346)ttC>ttT p.F2782F RELN_uc022ajq.1_Silent_p.F2782F|RELN_uc010liz.3_Silent_p.F2782F NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2782 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.F2782L(2) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AACTCACACCGAAGTCAGTAG 0.408000 32 9 0 0 0.006214 0 0 SUSD2 56241 broad.mit.edu 37 22 24583630 24583630 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:24583630C>T uc002zzn.1 + 11 2027 c.1983C>T c.(1981-1983)ttC>ttT p.F661F NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN Homo sapiens sushi domain containing 2 (SUSD2), mRNA. 661 VWFD. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 ACCCCACCTTCGAGCCCCTCT 0.572000 38 16 0 0 0.007413 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701850 8701850 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:8701850G>A uc002glp.2 - 0 818 c.589C>T c.(589-591)Cat>Tat p.H197Y NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA. 197 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 TCCCAGGGATGATCTTTCAGC 0.562000 59 24 0 0 0.002780 0 0 LRWD1 222229 broad.mit.edu 37 7 102110281 102110281 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:102110281G>A uc003uzn.3 + 10 1532 c.1394G>A c.(1393-1395)gGc>gAc p.G465D MIR4467_uc022ajg.1_5'Flank NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA. 465 DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GGCTGCGAGGGCGGCTGCTGC 0.711000 25 9 0 0 0.006214 0 0 MS4A2 2206 broad.mit.edu 37 11 59861027 59861027 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:59861027C>T uc001nop.3 + 4 635 c.533C>T c.(532-534)tCc>tTc p.S178F MS4A2_uc009ymu.3_Missense_Mutation_p.S178F|MS4A2_uc021qka.1_Missense_Mutation_p.S133F NM_000139 NP_000130 Q01362 FCERB_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA. 178 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) GCTTCCTTTTCCACTGTATGT 0.408000 34 12 0 0 0.001368 0 0 ATP8A1 10396 broad.mit.edu 37 4 42592857 42592857 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:42592857G>A uc003gwr.2 - 6 727 c.495C>T c.(493-495)ctC>ctT p.L165L ATP8A1_uc003gws.2_Intron|ATP8A1_uc011byz.1_Silent_p.L165L NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 165 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GATCTGCTGGGAGATGTTCCC 0.458000 50 28 0 0 0.003271 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12819328 12819328 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:12819328G>A uc002gnr.4 + 5 714 c.387_splice c.e5+1 p.E129_splice ARHGAP44_uc010vvk.2_Splice_Site_p.E129_splice|ARHGAP44_uc010vvl.2_Splice_Site_p.E129_splice|ARHGAP44_uc002gns.4_Splice_Site|ARHGAP44_uc010vvm.2_Splice_Site_p.E129_splice|ARHGAP44_uc010vvn.2_Splice_Site NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 129 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TGCTGGCGGAGGTAAGCAGCA 0.512000 14 12 0 0 0.001855 0 0 LLGL1 3996 broad.mit.edu 37 17 18143908 18143908 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:18143908C>T uc002gsp.3 + 16 2284 c.2223C>T c.(2221-2223)ccC>ccT p.P741P NM_004140 NP_004131 Q15334 L2GL1_HUMAN Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA. 741 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) ACCACGGGCCCACCATGTGGG 0.662000 116 39 0 0 0.002522 0 0 ROS1 6098 broad.mit.edu 37 6 117674322 117674322 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:117674322G>A uc003pxp.1 - 25 4351 c.4152C>T c.(4150-4152)acC>acT p.T1384T ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1384 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGCTAACAAGGGTTTTTCCTG 0.308000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 30 9 0 0 0.004482 0 0 MRPS18C 51023 broad.mit.edu 37 4 84377272 84377272 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:84377272G>A uc003hor.4 + 0 155 c.42G>A c.(40-42)aaG>aaA p.K14K HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank NM_016067 NP_057151 Q9Y3D5 RT18C_HUMAN Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA. 14 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) TAGGGAGGAAGAAGTTGACAC 0.547000 114 38 0 0 0.004878 0 0 NMT1 4836 broad.mit.edu 37 17 43182242 43182242 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:43182242T>C uc002ihz.3 + 10 1366 c.1348T>C c.(1348-1350)Ttc>Ctc p.F450L NM_021079 NP_066565 P30419 NMT1_HUMAN Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA. 450 N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GTTTGATGTGTTCAATGCACT 0.483000 31 21 0 0 0.001882 0 0 PRDM9 56979 broad.mit.edu 37 5 23526679 23526679 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:23526679G>A uc003jgo.3 + 10 1664 c.1482G>A c.(1480-1482)atG>atA p.M494I NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 494 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAAGAATAATGGAAGAAGAGT 0.443000 HNSCC(3;0.000094) 13 11 0 0 0.008291 0 0 NWD1 284434 broad.mit.edu 37 19 16860477 16860478 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16860477_16860478CC>TT uc002neu.4 + 5 1446_1447 c.1024_1025CC>TT c.(1024-1026)ccc>TTc p.P342F NWD1_uc002net.4_Missense_Mutation_p.P207F|NWD1_uc002nev.4_Missense_Mutation_p.P136F|NWD1_uc021uqg.1_Missense_Mutation_p.P207F NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 342 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACTCTTTGGGCCCCCAGGCATT 0.634000 24 10 0 0 0.004672 0 0 CCDC108 255101 broad.mit.edu 37 2 219870227 219870227 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:219870227G>A uc002vjl.1 - 31 5064 c.4980C>T c.(4978-4980)tcC>tcT p.S1660S NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 1660 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTTGTTAGGGGATTTTTCCT 0.552000 49 14 0 0 0.001855 0 0 ARMC4 55130 broad.mit.edu 37 10 28284008 28284008 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:28284008C>T uc009xky.3 - 1 162 c.64G>A c.(64-66)Gaa>Aaa p.E22K ARMC4_uc001itz.3_Missense_Mutation_p.E22K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 22 binding p.E22K(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGGGTGATTTCGAGGATTCCA 0.453000 28 10 0 0 0.001368 0 0 KYNU 8942 broad.mit.edu 37 2 143713841 143713841 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:143713841C>T uc010fnm.3 + 6 721 c.505C>T c.(505-507)Cat>Tat p.H169Y KYNU_uc002tvk.3_Missense_Mutation_p.H169Y|KYNU_uc002tvl.3_Missense_Mutation_p.H169Y NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 169 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CCCTTCTGATCATGTAAGGAC 0.343000 16 5 0 0 0.001168 0 0 CHKA 1119 broad.mit.edu 37 11 67832028 67832028 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:67832028G>A uc001onj.3 - 9 1410 c.1196C>T c.(1195-1197)tCc>tTc p.S399F CHKA_uc001onk.3_Missense_Mutation_p.S381F NM_001277 NP_001268 P35790 CHKA_HUMAN Homo sapiens choline kinase alpha (CHKA), transcript variant 1, mRNA. 399 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) TTTTATAATGGATTTTTCTTC 0.294000 10 4 0 0 0.009096 0 0 PRKACG 5568 broad.mit.edu 37 9 71628115 71628115 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:71628115G>A uc004agy.3 - 0 925 c.894C>T c.(892-894)ttC>ttT p.F298F NM_002732 NP_002723 P22612 KAPCG_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA. 298 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity p.F298L(2) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TGGTTGTGGCGAACCACTTGT 0.567000 68 30 0 0 0.003755 0 0 FAM169A 26049 broad.mit.edu 37 5 74130407 74130407 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:74130407C>T uc003kdm.3 - 4 377 c.334G>A c.(334-336)Gag>Aag p.E112K FAM169A_uc010izm.3_Missense_Mutation_p.E112K|FAM169A_uc003kdl.3_Intron NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 112 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 ACCACTCTCTCCCCAAGAGTG 0.408000 13 3 0 0 0.009096 0 0 TTYH2 94015 broad.mit.edu 37 17 72248397 72248397 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72248397A>T uc002jkc.3 + 10 1172 c.1141A>T c.(1141-1143)Atc>Ttc p.I381F TTYH2_uc010wqw.2_Missense_Mutation_p.I360F|TTYH2_uc002jkd.3_Missense_Mutation_p.I60F NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA. 381 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TCTTGCTGGCATCTGCTACGA 0.622000 48 43 0 0 0.003214 0 0 ARAP3 64411 broad.mit.edu 37 5 141052692 141052692 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:141052692G>A uc003llm.3 - 6 1059 c.981C>T c.(979-981)ttC>ttT p.F327F ARAP3_uc011dbe.2_5'UTR|ARAP3_uc003lln.3_Silent_p.F249F|ARAP3_uc003llo.1_Silent_p.F327F NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. 327 PH 1. cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CACCCTTAGGGAAGGGGTCCT 0.552000 30 5 0 0 0.003080 0 0 CELSR1 9620 broad.mit.edu 37 22 46765589 46765589 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:46765589G>A uc003bhw.1 - 26 7872 c.7872_splice c.e26+1 p.I2624_splice CELSR1_uc011arc.1_Splice_Site_p.H1090_splice NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 2624 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCACACTCACGATTATAACAG 0.622000 26 11 0 0 0.000978 0 0 TRPC7 57113 broad.mit.edu 37 5 135561043 135561043 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:135561043C>T uc003lbn.2 - 10 2485 c.2263_splice c.e10-1 p.K755_splice TRPC7_uc010jef.2_Splice_Site_p.K691_splice|TRPC7_uc010jeg.2_Splice_Site|TRPC7_uc010jej.2_Splice_Site_p.K306_splice|TRPC7_uc010jeh.2_Splice_Site_p.K694_splice|TRPC7_uc010jei.2_Splice_Site_p.K639_splice NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 755 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCGAGTCTTCTGGATAAAAC 0.448000 9 6 0 0 0.003080 0 0 OR8B3 390271 broad.mit.edu 37 11 124266627 124266627 + Silent SNP G A A rs144139982 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:124266627G>A uc010saj.2 - 0 621 c.621C>T c.(619-621)atC>atT p.I207I OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I207I(2)|p.N206T(1) kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGGGTACCATGATATTAATAC 0.418000 101 38 0 0 0.004289 0 0 SLC39A8 64116 broad.mit.edu 37 4 103189132 103189132 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:103189132A>G uc003hwb.1 - 5 1474 c.945T>C c.(943-945)aaT>aaC p.N315N SLC39A8_uc011ceo.1_Silent_p.N315N|SLC39A8_uc003hwa.1_Silent_p.N248N|SLC39A8_uc003hwc.2_Silent_p.N315N NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA. 315 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) CATCGATGAAATTGTGGAGGG 0.502000 55 19 0 0 0.007413 0 0 NHLRC3 387921 broad.mit.edu 37 13 39613751 39613751 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:39613751C>T uc001uxc.3 + 2 610 c.288C>T c.(286-288)ttC>ttT p.F96F PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Silent_p.F96F|NHLRC3_uc001uxe.3_5'UTR NM_001012754 NP_001012772 Q5JS37 NHLC3_HUMAN Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA. 96 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) ATGGATATTTCCTACGAGCCT 0.398000 29 15 0 0 0.003163 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407503 1407503 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:1407503G>A uc010nct.2 + 5 633 c.311G>A c.(310-312)gGa>gAa p.G104E CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.G104E|CSF2RA_uc004cpq.2_Missense_Mutation_p.G104E|CSF2RA_uc004cpn.2_Missense_Mutation_p.G104E|CSF2RA_uc004cpo.2_Missense_Mutation_p.G104E|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.G104E|CSF2RA_uc010ncv.2_Missense_Mutation_p.G104E|CSF2RA_uc004cpr.2_Missense_Mutation_p.G104E NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 104 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGTCAAAGAGGATTTCAACAG 0.443000 153 64 0 0 0.003610 0 0 KCNC2 3747 broad.mit.edu 37 12 75442073 75442073 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:75442073C>T uc001sxg.1 - 3 2184 c.1640G>A c.(1639-1641)gGa>gAa p.G547E KCNC2_uc009zry.3_Missense_Mutation_p.G547E|KCNC2_uc001sxe.3_Missense_Mutation_p.G547E|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA. 547 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CGGCTCACTTCCTGTACTGTC 0.478000 27 15 0 0 0.004007 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848717 92848717 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:92848717C>T uc011khy.2 - 2 219 c.196G>A c.(196-198)Ggc>Agc p.G66S HEPACAM2_uc003uml.3_Missense_Mutation_p.G31S|HEPACAM2_uc010lff.3_Missense_Mutation_p.G31S|HEPACAM2_uc003umm.3_Missense_Mutation_p.G43S NM_198151 NP_937794 A8MVW5 HECA2_HUMAN Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA. 43 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CCTCTGACGCCATGGACAGTG 0.512000 65 16 0 0 0.004007 0 0 HBS1L 10767 broad.mit.edu 37 6 135290425 135290425 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:135290425T>A uc003qez.2 - 15 2056 c.1849A>T c.(1849-1851)Att>Ttt p.I617F HBS1L_uc003qey.2_Missense_Mutation_p.I453F|HBS1L_uc011ecy.1_Missense_Mutation_p.I341F|HBS1L_uc011ecz.1_Missense_Mutation_p.I453F|HBS1L_uc011eda.1_Missense_Mutation_p.I575F NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA. 617 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) AAGACACTAATCAATCGTTTA 0.338000 30 7 0 0 0.008291 0 0 FBXO38 81545 broad.mit.edu 37 5 147821539 147821539 + Missense_Mutation SNP C G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:147821539C>G uc003lpf.1 + 21 3516 c.3396C>G c.(3394-3396)atC>atG p.I1132M FBXO38_uc003lpg.1_Missense_Mutation_p.I1057M|FBXO38_uc003lph.2_Missense_Mutation_p.I887M NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA. 1132 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCACTATCTATGCTCCTA 0.383000 15 4 0 0 0.000602 0 0 ARL14 80117 broad.mit.edu 37 3 160395299 160395299 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:160395299A>G uc003fdq.3 + 0 352 c.165A>G c.(163-165)gaA>gaG p.E55E NM_025047 NP_079323 Q8N4G2 ARL14_HUMAN Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA. 55 small GTPase mediated signal transduction intracellular GTP binding lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) TCGAGTTGGAAAGGAATCTTT 0.428000 35 12 0 0 0.001855 0 0 MLLT6 4302 broad.mit.edu 37 17 36878937 36878937 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:36878937A>G uc002hqi.4 + 17 2812 c.2799A>G c.(2797-2799)acA>acG p.T933T MLLT6_uc002hqk.4_Silent_p.T264T|MLLT6_uc021twh.1_Silent_p.T56T NM_005937 NP_005928 P55198 AF17_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA. 933 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TCAGCCTTACAGAGCAGCAGA 0.637000 T MLL AL 20 4 0 0 0.009096 0 0 OVCH1 341350 broad.mit.edu 37 12 29617510 29617510 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:29617510G>A uc001rix.1 - 17 2055 c.2055C>T c.(2053-2055)ctC>ctT p.L685L NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN Homo sapiens ovochymase 1 (OVCH1), mRNA. 685 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CGCTGTGTGGGAGACATACTG 0.458000 32 10 0 0 0.006214 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603627 28603627 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:28603627G>A uc002dqg.2 - 6 1083 c.732C>T c.(730-732)cgC>cgT p.R244R NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.R244R NM_177528 NP_803564 P50226 ST1A2_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA. 244 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 TGAACTCCCGGCGGACGGTGG 0.607000 92 32 0 0 0.004878 0 0 KRT1 3848 broad.mit.edu 37 12 53070892 53070892 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53070892T>A uc001sau.1 - 5 1264 c.1205A>T c.(1204-1206)aAt>aTt p.N402I KRT1_uc001sav.1_Missense_Mutation_p.N402I NM_006121 NP_006112 P04264 K2C1_HUMAN Homo sapiens keratin 1 (KRT1), mRNA. 402 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GATCACACGATTCAGCTCAGA 0.433000 28 11 0 0 0.008291 0 0 ABCA9 10350 broad.mit.edu 37 17 67016591 67016591 + Silent SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:67016591G>C uc002jhu.3 - 18 2681 c.2538C>G c.(2536-2538)gtC>gtG p.V846V ABCA9_uc010dez.3_Silent_p.V846V NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 846 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CTATTGCACAGACCTGCTGCC 0.423000 34 38 0 0 0.002522 0 0 THSD7B 80731 broad.mit.edu 37 2 138169301 138169301 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:138169301C>T uc002tva.1 + 12 2725 c.2725C>T c.(2725-2727)Cca>Tca p.P909S THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P799S NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTGCATTCTTCCAGAAGGCAG 0.483000 45 30 0 0 0.009535 0 0 ANGPT1 284 broad.mit.edu 37 8 108264107 108264107 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:108264107C>T uc003ymn.3 - 8 1941 c.1473G>A c.(1471-1473)atG>atA p.M491I ANGPT1_uc011lhv.2_Missense_Mutation_p.M291I|ANGPT1_uc003ymo.3_Missense_Mutation_p.M490I NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 491 Fibrinogen C-terminal. Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GTCGAATCATCATAGTTGTGG 0.413000 37 17 0 0 0.004990 0 0 HERC2 8924 broad.mit.edu 37 15 28414666 28414666 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:28414666G>A uc001zbj.3 - 65 10299 c.10193C>T c.(10192-10194)tCa>tTa p.S3398L NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3398 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) AAGAATATGTGATAAGGCCTG 0.373000 10 13 0 0 0.001855 0 0 PDP2 57546 broad.mit.edu 37 16 66919126 66919126 + Missense_Mutation SNP C G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:66919126C>G uc021tjw.1 + 0 939 c.939C>G c.(937-939)aaC>aaG p.N313K PDP2_uc002eqk.2_Missense_Mutation_p.N313K NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA. 313 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) ATGCCTGGAACCAGGCCGAGC 0.592000 30 49 0 0 0.003610 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781298 128781298 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:128781298G>A uc001qet.3 + 1 444 c.130G>A c.(130-132)Gcc>Acc p.A44T KCNJ5_uc009zck.3_Missense_Mutation_p.A44T|KCNJ5_uc001qew.3_Missense_Mutation_p.A44T NM_000890 NP_000881 P48544 IRK5_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA. 44 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GCGCCTGCTGGCCGAGGGCAA 0.597000 50 28 0 0 0.008361 0 0 PFKL 5211 broad.mit.edu 37 21 45732069 45732069 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:45732069C>T uc002zek.3 + 6 861 c.460C>T c.(460-462)Cag>Tag p.Q154* PFKL_uc002zel.3_Nonsense_Mutation_p.Q107*|PFKL_uc011afd.1_Nonsense_Mutation_p.Q154* P17858 K6PL_HUMAN Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA. 107 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) CAACCTGGTCCAGCACGGCAT 0.657000 4 3 0 0 0.009096 0 0 OTOF 9381 broad.mit.edu 37 2 26739411 26739411 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:26739411C>T uc002rhk.3 - 4 511 c.384G>A c.(382-384)tgG>tgA p.W128* OTOF_uc010ylb.1_Non-coding_Transcript NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 128 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCATCGTCCCAGGAGCCCA 0.642000 54 29 0 0 0.009535 0 0 OR5D13 390142 broad.mit.edu 37 11 55541018 55541018 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55541018C>T uc010ril.2 + 0 105 c.105C>T c.(103-105)ttC>ttT p.F35F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TTTTCTTGTTCGTCTACACAG 0.398000 41 22 0 0 0.001882 0 0 GTSE1 51512 broad.mit.edu 37 22 46722511 46722511 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:46722511C>T uc011aqy.2 + 8 1896 c.1684C>T c.(1684-1686)Cgg>Tgg p.R562W GTSE1_uc011aqz.2_Missense_Mutation_p.R409W|GTSE1_uc003bhl.1_Missense_Mutation_p.R187W|GTSE1_uc003bhm.1_Missense_Mutation_p.R187W|GTSE1_uc003bhn.3_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA. 543 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule p.E562K(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TGTGCCAGCTCGGAGACGTTC 0.597000 40 7 0 0 0.001984 0 0 LCT 3938 broad.mit.edu 37 2 136570092 136570092 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:136570092G>A uc002tuu.1 - 6 2153 c.2142C>T c.(2140-2142)aaC>aaT p.N714N NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 714 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCCACACATGGTTCACGTGTT 0.537000 38 20 0 0 0.010504 0 0 RAB4A 5867 broad.mit.edu 37 1 229431640 229431640 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:229431640C>T uc001hth.3 + 3 481 c.273C>T c.(271-273)ctC>ctT p.L91L NM_004578 NP_004569 P20338 RAB4A_HUMAN Homo sapiens RAB4A, member RAS oncogene family (RAB4A), mRNA. 86 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) GGGCTCTCCTCGTCTATGATA 0.552000 26 14 0 0 0.003163 0 0 ANO2 57101 broad.mit.edu 37 12 5915235 5915235 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:5915235C>T uc001qnm.2 - 8 1033 c.961G>A c.(961-963)Gat>Aat p.D321N NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN Homo sapiens anoctamin 2 (ANO2), mRNA. 326 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCATTCATATCGTCCTCTGGA 0.478000 16 4 0 0 0.000602 0 0 MYH6 4624 broad.mit.edu 37 14 23869930 23869930 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:23869930G>A uc001wjv.3 - 12 1469 c.1398C>T c.(1396-1398)ttC>ttT p.F466F MYH6_uc010akp.2_Silent_p.F466F NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 466 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGAAGATCTCGAAGCCAGCGA 0.552000 32 12 0 0 0.001855 0 0 OR5H6 79295 broad.mit.edu 37 3 97983363 97983363 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:97983363C>T uc003dsi.1 + 0 235 c.235C>T c.(235-237)Ctt>Ttt p.L79F NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTACTTATTCCTTGGGAGTTT 0.413000 66 41 0 0 0.008740 0 0 OTOR 56914 broad.mit.edu 37 20 16730641 16730641 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:16730641G>A uc002wpj.3 + 2 393 c.349G>A c.(349-351)Gaa>Aaa p.E117K NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN Homo sapiens otoraplin (OTOR), mRNA. 117 sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 AGCTACCAAGGAAGTTCCCAC 0.488000 18 8 0 0 0.003080 0 0 DPH1 1801 broad.mit.edu 37 17 1943834 1943834 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:1943834C>T uc010vqs.2 + 7 993 c.987C>T c.(985-987)tcC>tcT p.S329S DPH1_uc002fts.3_Silent_p.S319S|DPH1_uc002ftt.3_Silent_p.S303S|DPH1_uc010cjx.3_Silent_p.S179S|DPH1_uc002ftv.3_Silent_p.S75S|DPH1_uc002ftw.3_Silent_p.S47S|OVCA2_uc002ftx.3_5'Flank NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA. 319 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 TGGGCCTTTCCTTTGTGAGGC 0.567000 42 19 0 0 0.010504 0 0 DNAH7 56171 broad.mit.edu 37 2 196749415 196749415 + Missense_Mutation SNP C T T rs13034775 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:196749415C>T uc002utj.4 - 34 5758 c.5657G>A c.(5656-5658)cGa>cAa p.R1886Q NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1886 R -> Q (in dbSNP:rs13034775). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R1886R(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAACGTATTTCGAGTTCGATC 0.358000 28 10 0 0 0.008291 0 0 PTPRF 5792 broad.mit.edu 37 1 44085233 44085233 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:44085233C>T uc001cjr.3 + 27 5261 c.4921C>T c.(4921-4923)Ctc>Ttc p.L1641F PTPRF_uc001cjs.3_Missense_Mutation_p.L1632F|PTPRF_uc001cju.3_Missense_Mutation_p.L1030F|PTPRF_uc009vwt.3_Missense_Mutation_p.L1201F|PTPRF_uc001cjv.3_Missense_Mutation_p.L1112F|PTPRF_uc001cjw.3_Missense_Mutation_p.L867F NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1641 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGCCATGGAGCTCGAGTTCAA 0.652000 35 18 0 0 0.002780 0 0 SAMD9 54809 broad.mit.edu 37 7 92735076 92735076 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:92735076T>C uc003umf.3 - 2 605 c.335A>G c.(334-336)cAa>cGa p.Q112R SAMD9_uc003umg.3_Missense_Mutation_p.Q112R|SAMD9_uc022ahg.1_Missense_Mutation_p.Q112R NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 112 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTTTGTTTTTGCTTTGAAGT 0.383000 75 5 0 0 0.000602 0 0 AX746964 0 broad.mit.edu 37 5 140242883 140242883 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140242883C>T uc003lhy.1 - 0 342 c.93G>A c.(91-93)gcG>gcA p.A31A PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399; ACCTGATCATCGCCATCTGCG 0.647000 26 8 0 0 0.006214 0 0 PNKP 11284 broad.mit.edu 37 19 50370417 50370417 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:50370417G>A uc002pqj.3 - 1 155 c.45C>T c.(43-45)ccC>ccT p.P15P PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.P15P NM_007254 NP_009185 Q96T60 PNKP_HUMAN Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA. 15 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CTCCCCCAGGGGGGCTCTCGA 0.711000 Other BER factors 20 5 0 0 0.000602 0 0 OPRK1 4986 broad.mit.edu 37 8 54141901 54141901 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:54141901G>A uc003xrh.1 - 2 1474 c.1099C>T c.(1099-1101)Cct>Tct p.P367S OPRK1_uc022aup.1_Missense_Mutation_p.P247S|OPRK1_uc003xri.1_Missense_Mutation_p.P367S|OPRK1_uc010lyc.1_Missense_Mutation_p.P278S NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 367 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGGTAAGCAGGATCCTGAACT 0.478000 44 11 0 0 0.000978 0 0 KRT83 3889 broad.mit.edu 37 12 52715014 52715014 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52715014G>A uc001saf.2 - 0 169 c.106C>T c.(106-108)Ccc>Tcc p.P36S NM_002282 NP_002273 P78385 KRT83_HUMAN Homo sapiens keratin 83 (KRT83), mRNA. 36 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCGCGGTAGGGGGCGGCGGTG 0.701000 47 17 0 0 0.010504 0 0 FUT8 2530 broad.mit.edu 37 14 66028473 66028473 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:66028473C>T uc001xin.3 + 2 1919 c.192C>T c.(190-192)gcC>gcT p.A64A FUT8_uc001xio.3_Silent_p.A64A|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Silent_p.A64A|FUT8_uc001xiq.3_Intron NM_178155 NP_004471 Q9BYC5 FUT8_HUMAN Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA. 64 L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi Golgi cisterna membrane|integral to membrane SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GGCGAATGGCCGAATCTCTCC 0.403000 15 7 0 0 0.003080 0 0 MMP13 4322 broad.mit.edu 37 11 102824925 102824925 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:102824925G>A uc001phl.3 - 3 626 c.597C>T c.(595-597)gcC>gcT p.A199A NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 199 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) CATCAAAATGGGCATCTCCTC 0.423000 29 6 0 0 0.001984 0 0 ZNF831 128611 broad.mit.edu 37 20 57768850 57768850 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:57768850C>T uc002yan.3 + 0 2776 c.2776C>T c.(2776-2778)Cct>Tct p.P926S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 926 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACCTCAGGCTCCTAGAGTGCT 0.642000 26 10 0 0 0.008291 0 0 NBPF14 25832 broad.mit.edu 37 1 148252068 148252068 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:148252068G>A uc001erd.4 - 18 2482 c.2411C>T c.(2410-2412)tCa>tTa p.S804L NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Intron|NBPF14_uc021owj.1_Missense_Mutation_p.S450L|NBPF14_uc021owk.1_Missense_Mutation_p.S206L|NBPF14_uc021owl.1_Missense_Mutation_p.S694L|NBPF14_uc001erb.3_Missense_Mutation_p.S418L|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc010paj.2_Missense_Mutation_p.S303L Q5TI25 NBPFE_HUMAN SubName: Full=Uncharacterized protein; 445 NBPF 9. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TCCATCCAGTGAGTCCTGTAA 0.448000 151 48 0 0 0.003610 0 0 PRB4 5545 broad.mit.edu 37 12 11462321 11462321 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:11462321G>A uc001qzf.1 - 1 117 c.83C>T c.(82-84)tCt>tTt p.S28F PRB4_uc001qzt.3_Missense_Mutation_p.S28F NM_002723 NP_002714 P10163 PRB4_HUMAN Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA. 28 S -> P (in Ref. 5; AA sequence). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TAGGAAGAGAGATTCTTCCTG 0.378000 HNSCC(22;0.051) 38 14 0 0 0.002450 0 0 OR51D1 390038 broad.mit.edu 37 11 4661821 4661821 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:4661821C>T uc010qyk.2 + 0 877 c.801C>T c.(799-801)ccC>ccT p.P267P NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTATGTACCCCTCATTGGGC 0.557000 61 36 0 0 0.003755 0 0 TRAIP 10293 broad.mit.edu 37 3 49878425 49878425 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49878425C>T uc003cxs.1 - 7 804 c.698G>A c.(697-699)aGa>aAa p.R233K TRAIP_uc010hla.1_Intron NM_005879 NP_005870 Q9BWF2 TRAIP_HUMAN Homo sapiens TRAF interacting protein (TRAIP), mRNA. 233 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACCTTGCTTCTGGAGGAAAA 0.507000 OREG0015575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 28 0 0 0.008361 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587994 68587994 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:68587994G>A uc003dnd.3 + 3 563 c.347G>A c.(346-348)tGg>tAg p.W116* FAM19A1_uc003dne.3_Nonsense_Mutation_p.W116*|FAM19A1_uc003dng.3_Nonsense_Mutation_p.W116* NM_001252216 NP_001239145 Q7Z5A9 F19A1_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA. 116 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) AATTCTGGATGGATGTGCGCA 0.428000 28 9 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179642167 179642167 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179642167G>A uc021vsy.1 - 25 4850 c.4625C>T c.(4624-4626)tCa>tTa p.S1542L TTN_uc021vsz.1_Missense_Mutation_p.S1496L|TTN_uc021vta.1_Missense_Mutation_p.S1496L|TTN_uc021vtb.1_Missense_Mutation_p.S1496L|TTN_uc002unb.2_Missense_Mutation_p.S1542L|AK123298_uc002unc.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1542 Ig-like 6. 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) TAAAATCACTGAAATTGAAGA 0.383000 10 8 0 0 0.003080 0 0 FAM83B 222584 broad.mit.edu 37 6 54805265 54805265 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54805265C>T uc003pck.3 + 4 1612 c.1496C>T c.(1495-1497)tCc>tTc p.S499F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 499 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGAATTGAATCCTACTTAAAT 0.403000 44 13 0 0 0.001855 0 0 KCNH2 3757 broad.mit.edu 37 7 150648080 150648080 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150648080G>A uc003wic.3 - 7 2475 c.2074C>T c.(2074-2076)Ccc>Tcc p.P692S KCNH2_uc003wib.3_Missense_Mutation_p.P352S|KCNH2_uc011kux.2_Missense_Mutation_p.P596S|KCNH2_uc003wid.3_Missense_Mutation_p.P352S|KCNH2_uc003wie.3_Missense_Mutation_p.P692S NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 692 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGGCGCAGGGGATTGGGGATC 0.647000 29 18 0 0 0.007413 0 0 PCDH18 54510 broad.mit.edu 37 4 138452734 138452734 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:138452734G>A uc003ihe.4 - 0 896 c.509C>T c.(508-510)tCc>tTc p.S170F PCDH18_uc003ihf.4_Missense_Mutation_p.S163F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 170 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTGTGGAGGGAATTTTCCCC 0.458000 22 9 0 0 0.006214 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241098 60241098 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:60241098G>A uc003jsp.4 + 0 143 c.16G>A c.(16-18)Gat>Aat p.D6N NDUFAF2_uc003jso.4_Non-coding_Transcript|ERCC8_uc003jsm.3_5'Flank|ERCC8_uc003jsl.3_5'Flank|ERCC8_uc011cqp.1_5'Flank|ERCC8_uc003jsn.3_5'Flank NM_174889 NP_777549 Q8N183 MIMIT_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA. 6 membrane|mitochondrion NADH dehydrogenase (ubiquinone) activity|electron carrier activity p.D6Y(2) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TTGGTCTCAGGATTTGTTCCG 0.607000 11 6 0 0 0.001168 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40839962 40839962 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:40839962C>T uc002iay.3 + 7 1485 c.1269C>T c.(1267-1269)atC>atT p.I423I CNTNAP1_uc010wgs.2_Non-coding_Transcript NM_003632 NP_003623 P78357 CNTP1_HUMAN Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA. 423 Laminin G-like 2. axon guidance|cell adhesion paranode region of axon SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) ACGTGTCCATCGCGCAGAGCG 0.617000 83 23 0 0 0.003954 0 0 TMCO7 79613 broad.mit.edu 37 16 68941384 68941384 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:68941384C>T uc002ewi.4 + 9 1718 c.1706C>T c.(1705-1707)tCc>tTc p.S569F NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA. 569 integral to membrane binding endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2) 20 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) CAGAAGGTATCCTCTGAGCAG 0.473000 139 86 0 0 0.003610 0 0 MKL2 57496 broad.mit.edu 37 16 14306259 14306259 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:14306259G>A uc010uza.2 + 4 424 c.269G>A c.(268-270)cGa>cAa p.R90Q MKL2_uc002dcg.3_Missense_Mutation_p.R90Q|MKL2_uc002dch.3_Missense_Mutation_p.R79Q|MKL2_uc010uzb.2_Missense_Mutation_p.R39Q NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA. 79 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCTTGGAACGAGCCAGAGTA 0.388000 24 14 0 0 0.001855 0 0 OR8B8 26493 broad.mit.edu 37 11 124310337 124310337 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:124310337G>A uc010sal.2 - 0 645 c.645C>T c.(643-645)ttC>ttT p.F215F NM_012378 NP_036510 Q15620 OR8B8_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CATAGGAAATGAAGATGGTGA 0.483000 58 20 0 0 0.001882 0 0 TDRD5 163589 broad.mit.edu 37 1 179599910 179599910 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:179599910T>C uc010pnp.2 + 6 1499 c.981T>C c.(979-981)ttT>ttC p.F327F TDRD5_uc021pfm.1_Silent_p.F327F|TDRD5_uc001gnf.2_Silent_p.F327F|TDRD5_uc021pfn.1_Silent_p.F327F|TDRD5_uc001gnh.2_5'UTR NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 327 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGGTAATTTTTAAAGAGCAAC 0.328000 22 13 0 0 0.001855 0 0 KCNIP4 80333 broad.mit.edu 37 4 21950252 21950252 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:21950252C>T uc021xmt.1 - 0 123 c.3G>A c.(1-3)atG>atA p.M1I KCNIP4_uc003gqi.1_5'UTR|KCNIP4_uc021xmu.1_Missense_Mutation_p.M1I NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 1 plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TCCTCACATTCATGTCTAGGG 0.667000 16 8 0 0 0.006214 0 0 IARS2 55699 broad.mit.edu 37 1 220284190 220284190 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:220284190C>T uc001hmc.3 + 10 1494 c.1390C>T c.(1390-1392)Ccg>Tcg p.P464S RNU5F-1_uc021pjd.1_Intron NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA. 464 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) GCATAGCTATCCGTATGACTG 0.358000 13 10 0 0 0.006214 0 0 APOB 338 broad.mit.edu 37 2 21229685 21229685 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:21229685G>A uc002red.3 - 25 10183 c.10055C>T c.(10054-10056)aCc>aTc p.T3352I NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3352 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) TTCAGCATTGGTATTCAGTGT 0.373000 266 109 0 0 0.003610 0 0 THRB 7068 broad.mit.edu 37 3 24164584 24164584 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:24164584C>T uc003ccz.4 - 11 1697 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K THRB_uc010hfe.3_Missense_Mutation_p.E393K|THRB_uc003ccy.4_Missense_Mutation_p.E393K|THRB_uc003ccx.4_Missense_Mutation_p.E393K NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 393 Interaction with NR2F6.|Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGTACTTTTCTATTCTCTCA 0.473000 50 20 0 0 0.010504 0 0 ZBTB1 22890 broad.mit.edu 37 14 64989825 64989825 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:64989825C>T uc021rul.1 + 0 1603 c.1603C>T c.(1603-1605)Cga>Tga p.R535* ZBTB1_uc001xhh.4_Nonsense_Mutation_p.R535*|ZBTB1_uc010aqg.3_Nonsense_Mutation_p.R535*|ZBTB1_uc001xhi.2_Nonsense_Mutation_p.R535*|ZBTB1_uc021rum.1_5'Flank NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA. 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R535*(2) kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CTGCCCTTTTCGATGTCCTAA 0.363000 68 30 0 0 0.004289 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665272 6665272 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:6665272C>T uc002mfk.2 - 4 770 c.388G>A c.(388-390)Gat>Aat p.D130N TNFSF14_uc002mfj.2_Missense_Mutation_p.D94N NM_003807 NP_003798 O43557 TNF14_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA. 130 T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 AGGGCCCCATCGTGGTAGCTG 0.652000 23 11 0 0 0.008291 0 0 RASAL3 64926 broad.mit.edu 37 19 15574876 15574876 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15574876C>T uc002nbe.2 - 1 380 c.294G>A c.(292-294)ccG>ccA p.P98P NM_022904 NP_075055 Q86YV0 RASL3_HUMAN Homo sapiens RAS protein activator like 3 (RASAL3), mRNA. 98 Pro-rich. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity p.P98P(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GGTCTGGCTCCGGCGGTGGGT 0.657000 19 10 0 0 0.000978 0 0 GHR 2690 broad.mit.edu 37 5 42565968 42565968 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:42565968C>T uc021xxv.1 + 1 150 c.13C>T c.(13-15)Cct>Tct p.P5S GHR_uc003jmt.3_5'UTR|GHR_uc003jmu.3_5'UTR|GHR_uc003jmv.2_5'UTR|GHR_uc021xxw.1_5'UTR|GHR_uc021xxx.1_5'UTR|GHR_uc021xxy.1_5'UTR|GHR_uc021xxz.1_5'UTR|GHR_uc021xya.1_5'UTR|GHR_uc021xyb.1_5'UTR|GHR_uc021xyc.1_5'UTR|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_5'UTR NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 0 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GATTGCAGGTCCTACAGGTAT 0.438000 56 22 0 0 0.001882 0 0 DSC2 1824 broad.mit.edu 37 18 28671022 28671022 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:28671022G>A uc002kwl.4 - 3 897 c.443C>T c.(442-444)tCc>tTc p.S148F DSC2_uc002kwk.4_Missense_Mutation_p.S148F NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 148 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) AGGACCCAAGGAGTTTTCTAG 0.403000 15 4 0 0 0.000602 0 0 SLC35F4 341880 broad.mit.edu 37 14 58060780 58060780 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:58060780C>T uc021rtp.1 - 1 215 c.166G>A c.(166-168)Ggc>Agc p.G56S SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR NM_001206920 NP_001193849 Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA. breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTACTGATGCCACTGTGTGAA 0.493000 17 7 0 0 0.004482 0 0 PNN 5411 broad.mit.edu 37 14 39644500 39644500 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:39644500G>A uc001wuw.4 + 0 114 c.17G>A c.(16-18)aGa>aAa p.R6K NM_002687 NP_002678 Q9H307 PININ_HUMAN Homo sapiens pinin, desmosome associated protein (PNN), mRNA. 6 Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GTCGCCGTGAGAACTTTGCAG 0.592000 9 4 0 0 0.000602 0 0 SCN3A 6328 broad.mit.edu 37 2 166003341 166003341 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166003341C>T uc002ucx.3 - 11 2071 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K SCN3A_uc002ucy.3_Missense_Mutation_p.E527K|SCN3A_uc002ucz.3_Missense_Mutation_p.E527K|SCN3A_uc002uda.1_Missense_Mutation_p.E396K|SCN3A_uc002udb.1_Missense_Mutation_p.E396K NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 527 voltage-gated sodium channel complex voltage-gated sodium channel activity p.S526P(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCTTCAGATTCGGATTTGGGA 0.438000 75 24 0 0 0.003954 0 0 INPPL1 3636 broad.mit.edu 37 11 71944756 71944756 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71944756T>C uc001osf.3 + 18 2327 c.2180T>C c.(2179-2181)gTt>gCt p.V727A INPPL1_uc001osg.3_Missense_Mutation_p.V485A NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 727 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ACATTTGAGGTTGGAGTTACC 0.542000 60 18 0 0 0.002780 0 0 SPANXE 171489 broad.mit.edu 37 X 140785801 140785801 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:140785801G>A uc004fbq.3 - 1 208 c.115C>T c.(115-117)Ccg>Tcg p.P39S NM_145665 NP_663698 Q8TAD1 SPNXE_HUMAN Homo sapiens SPANX family, member E (SPANXE), mRNA. 39 cytoplasm|nucleus Acute lymphoblastic leukemia(192;7.65e-05) AGTTTTTTCGGAGCAGGTTGC 0.483000 23 35 0 0 0.003755 0 0 DMD 1756 broad.mit.edu 37 X 32632560 32632560 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:32632560C>T uc004dda.1 - 11 1586 c.1342G>A c.(1342-1344)Gtt>Att p.V448I DMD_uc004dcz.2_Missense_Mutation_p.V325I|DMD_uc004dcy.1_Missense_Mutation_p.V444I|DMD_uc004ddb.1_Missense_Mutation_p.V440I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.V440I|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 448 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCATTAAAACTCTATGTAAA 0.323000 3 5 0 0 0.000602 0 0 OR8D4 338662 broad.mit.edu 37 11 123778024 123778024 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:123778024G>A uc010saa.2 + 0 886 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) GAGGAACAATGAAGTAAGAAA 0.323000 21 11 0 0 0.001368 0 0 SEMG2 6407 broad.mit.edu 37 20 43850392 43850392 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:43850392C>T uc010ggz.3 + 1 176 c.119C>T c.(118-120)cCa>cTa p.P40L SEMG2_uc002xnk.3_Missense_Mutation_p.P40L|SEMG2_uc002xnl.3_Missense_Mutation_p.P40L NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. 40 sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TCCCAATTTCCACATGGACAA 0.388000 45 11 0 0 0.001368 0 0 NUDC 10726 broad.mit.edu 37 1 27269436 27269436 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:27269436C>T uc001bng.1 + 5 737 c.621C>T c.(619-621)ctC>ctT p.L207L BC016143_uc021ojq.1_Intron NM_006600 NP_006591 Q9Y266 NUDC_HUMAN Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA. 207 CS. cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) GGCGGCACCTCCGGGTGGGGC 0.602000 40 26 0 0 0.004656 0 0 LOC81691 81691 broad.mit.edu 37 16 20857542 20857542 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20857542G>A uc002dhy.4 + 19 2500 c.2125_splice c.e19-1 p.T709_splice ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Splice_Site_p.T709_splice|LOC81691_uc002dhx.3_Splice_Site_p.T678_splice NM_001199053 NP_001185982 Q96IC2 REXON_HUMAN Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA. 709 nucleolus RNA binding|exonuclease activity|nucleotide binding endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1) 18 TTTGATCCCAGACTCTGAAAC 0.547000 111 48 0 0 0.003610 0 0 GPR55 9290 broad.mit.edu 37 2 231775585 231775585 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:231775585G>A uc021vxz.1 - 0 93 c.93C>T c.(91-93)ttC>ttT p.F31F GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.F31F|GPR55_uc010fxs.1_Silent_p.F31F NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA. 31 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) GGCCCAGGACGAAGGTGGGGA 0.532000 35 20 0 0 0.010504 0 0 CADM2 253559 broad.mit.edu 37 3 85851313 85851313 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:85851313G>A uc003dql.3 + 1 184 c.184G>A c.(184-186)Gct>Act p.A62T CADM2_uc003dqj.3_Missense_Mutation_p.A60T|CADM2_uc003dqk.3_Missense_Mutation_p.A69T|CADM2_uc003dqm.2_5'UTR|CADM2_uc021xay.1_5'UTR|CADM2_uc021xaz.1_5'UTR|CADM2_uc021xba.1_Intron NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 60 Ig-like V-type. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTCAAATCCAGCTCAACAGAC 0.353000 17 11 0 0 0.000978 0 0 GSTA1 2938 broad.mit.edu 37 6 52657738 52657738 + Missense_Mutation SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:52657738G>C uc003paz.3 - 5 574 c.462C>G c.(460-462)agC>agG p.S154R GSTA1_uc021zan.1_Missense_Mutation_p.S154R NM_145740 NP_665683 P08263 GSTA1_HUMAN Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA. 154 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TGTCAGCCCGGCTCAGCTTGT 0.517000 93 37 0 0 0.005524 0 0 OR2L2 26246 broad.mit.edu 37 1 248201644 248201644 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:248201644C>T uc001idw.3 + 0 171 c.75C>T c.(73-75)ttC>ttT p.F25F OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTGGCCTTTTCGTATTCACCC 0.378000 80 29 0 0 0.008361 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003415 75003415 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:75003415C>T uc004ecj.2 - 0 1665 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA. 491 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTTCTGTGGTCGCTTTCTGTA 0.478000 11 14 0 0 0.003163 0 0 abParts 0 broad.mit.edu 37 14 106899331 106899331 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106899331C>T uc021ser.1 - 374 c.12297G>A Parts of antibodies, mostly variable regions. ACCAGCTGCACCTCACACTGG 0.522000 54 15 0 0 0.004990 0 0 ACE 1636 broad.mit.edu 37 17 61558997 61558997 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:61558997C>T uc002jau.2 + 6 1050 c.1016C>T c.(1015-1017)cCt>cTt p.P339L ACE_uc010wpi.2_Missense_Mutation_p.P339L|ACE_uc010ddu.2_Missense_Mutation_p.P156L NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 339 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TCCCCCATGCCTCCCGAGTTC 0.642000 44 13 0 0 0.001855 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909132 32909132 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:32909132T>A uc003tdb.2 - 3 2356 c.1697A>T c.(1696-1698)cAt>cTt p.H566L AVL9_uc011kai.2_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA. 566 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TTCAGATATATGCTGCCGCAG 0.478000 56 26 0 0 0.003954 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748110 41748111 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:41748110_41748111GG>AA uc003gwf.4 - 2 1018_1019 c.658_659CC>TT c.(658-660)ccg>TTg p.P220L NM_003924 NP_003915 Q99453 PHX2B_HUMAN Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA. 220 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.G216fs*88(1) autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 agctccagccgggctgggcccg 0.817000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 24 10 0 0 0.004672 0 0 L1TD1 54596 broad.mit.edu 37 1 62672651 62672651 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:62672651G>A uc021ooc.1 + 3 786 c.351G>A c.(349-351)ggG>ggA p.G117G L1TD1_uc001dae.4_Silent_p.G117G NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 117 p.G117W(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 ggatggtagggaaaatagaag 0.328000 66 16 0 0 0.008871 0 0 C15orf2 23742 broad.mit.edu 37 15 24921643 24921643 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:24921643G>A uc001ywo.3 + 0 1103 c.629G>A c.(628-630)gGa>gAa p.G210E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 210 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCTCTGGAGGGAAATGTCTAC 0.612000 32 7 0 0 0.003080 0 0 IL36B 27177 broad.mit.edu 37 2 113786542 113786542 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:113786542G>A uc002tiq.1 - 3 339 c.235C>T c.(235-237)Cag>Tag p.Q79* IL36B_uc002tir.1_Nonsense_Mutation_p.Q79* NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 79 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 GGCTTGCCCTGAATTTCTGCA 0.398000 41 21 0 0 0.005443 0 0 SSPO 23145 broad.mit.edu 37 7 149486764 149486764 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:149486764G>A uc010lpk.3 + 30 4538 c.4538G>A c.(4537-4539)gGa>gAa p.G1513E NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 1513 LDL-receptor class A 4. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGTGTGACGGAGTCTGGGAC 0.657000 9 5 0 0 0.000602 0 0 OR5H1 26341 broad.mit.edu 37 3 97851821 97851821 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:97851821C>T uc011bgt.2 + 0 280 c.280C>T c.(280-282)Ctc>Ttc p.L94F NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GATGATATCTCTCTCTGAATG 0.398000 76 29 0 0 0.004878 0 0 CDC40 51362 broad.mit.edu 37 6 110551240 110551240 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:110551240A>T uc003pua.3 + 14 1707 c.1646A>T c.(1645-1647)cAt>cTt p.H549L NM_015891 NP_056975 O60508 PRP17_HUMAN Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA. 549 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) TTTAAAGCTCATGATAAAGTG 0.373000 36 12 0 0 0.001368 0 0 SCN10A 6336 broad.mit.edu 37 3 38835276 38835276 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38835276C>T uc003ciq.3 - 0 226 c.226G>A c.(226-228)Ggg>Agg p.G76R NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 76 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) AGGGGCTCCCCGATCAGTTCT 0.562000 88 35 0 0 0.004289 0 0 abParts 0 broad.mit.edu 37 14 107099352 107099352 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:107099352C>T uc021ser.1 - 105 c.4736G>A Parts of antibodies, mostly variable regions. GAAGGTGAATCCAGAGGCTGC 0.552000 34 11 0 0 0.000978 0 0 LCE1A 353131 broad.mit.edu 37 1 152800122 152800123 + Missense_Mutation DNP CG TT TT rs141081392 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152800122_152800123CG>TT uc010pdw.2 + 0 174_175 c.174_175CG>TT c.(172-177)ggcggc>ggTTgc p.G59C NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN Homo sapiens late cornified envelope 1A (LCE1A), mRNA. 59 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCTCTGGGGGCGGCTGCAGCTC 0.668000 51 6 0 0 0.004672 0 0 KRT17 3872 broad.mit.edu 37 17 39776926 39776926 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:39776926T>A uc002hxh.2 - 5 1287 c.1166A>T c.(1165-1167)gAg>gTg p.E389V JUP_uc010wfs.2_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN Homo sapiens keratin 17 (KRT17), mRNA. 389 Coil 2.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Breast(137;0.000307) ATCCTCTCCCTCCAGCAGGCG 0.607000 39 10 0 0 0.000978 0 0 BPIFA3 128861 broad.mit.edu 37 20 31805433 31805433 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:31805433C>T uc002wyr.3 + 0 299 c.91C>T c.(91-93)Caa>Taa p.Q31* BPIFA3_uc002wys.3_Nonsense_Mutation_p.Q31* NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA. 31 extracellular region lipid binding TGGCCTGGCCCAAGCCCACAG 0.622000 27 9 0 0 0.006214 0 0 SLIT2 9353 broad.mit.edu 37 4 20525485 20525485 + Silent SNP C T T rs145340436 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:20525485C>T uc003gpr.1 + 12 1437 c.1233C>T c.(1231-1233)atC>atT p.I411I SLIT2_uc003gps.1_Silent_p.I411I NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 411 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTCAGACCATCGCCAAGGGGA 0.418000 50 25 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179582050 179582050 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179582050C>T uc021vsy.1 - 84 21904 c.21679G>A c.(21679-21681)Gaa>Aaa p.E7227K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3888K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8154 Ig-like 54. 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) GTACCACTTTCTCCAAGAGCA 0.408000 33 15 0 0 0.002450 0 0 DDX43 55510 broad.mit.edu 37 6 74110016 74110016 + Silent SNP G A A rs140241372 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74110016G>A uc003pgw.3 + 2 710 c.366G>A c.(364-366)acG>acA p.T122T DDX43_uc011dyn.1_Non-coding_Transcript NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA. 122 KH. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CAATGCAAACGAAAGCAAAAG 0.353000 44 18 0 0 0.004990 0 0 PSG5 5673 broad.mit.edu 37 19 43689174 43689174 + Missense_Mutation SNP C T T rs146386413 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:43689174C>T uc002ovu.3 - 1 321 c.190G>A c.(190-192)Ggc>Agc p.G64S PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G64S NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 64 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CAGATGTAGCCAGCAAGATTC 0.448000 132 43 0 0 0.008740 0 0 OR4A5 81318 broad.mit.edu 37 11 51411976 51411976 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:51411976G>A uc001nhi.2 - 0 473 c.420C>T c.(418-420)ttC>ttT p.F140F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CCAACAGAAGGAAGCAAACCT 0.473000 21 13 0 0 0.001855 0 0 LPA 4018 broad.mit.edu 37 6 161006198 161006198 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:161006198C>T uc003qtl.3 - 26 4289 c.4169G>A c.(4168-4170)cGa>cAa p.R1390Q NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3898 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TCCATCACCTCGGTAGCAGTC 0.453000 96 39 0 0 0.008740 0 0 PPFIA2 8499 broad.mit.edu 37 12 81777804 81777804 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:81777804C>T uc001szo.2 - 8 1143 c.982G>A c.(982-984)Gag>Aag p.E328K PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E254K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E229K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E328K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E328K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E310K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E328K|PPFIA2_uc010sue.2_Missense_Mutation_p.E228K NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 254 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCACTTACCTCCCTAATGTCC 0.408000 19 3 0 0 0.004672 0 0 HKR1 284459 broad.mit.edu 37 19 37853799 37853799 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:37853799C>T uc002ogb.3 + 5 1371 c.1102C>T c.(1102-1104)Ctg>Ttg p.L368L HKR1_uc002ofx.3_Silent_p.L84L|HKR1_uc002ofy.3_Silent_p.L84L|HKR1_uc002oga.3_Silent_p.L350L|HKR1_uc010xto.2_Silent_p.L350L|HKR1_uc002ogc.3_Silent_p.L349L|HKR1_uc010xtp.2_Silent_p.L307L|HKR1_uc002ogd.3_Silent_p.L307L NM_181786 NP_861451 P10072 HKR1_HUMAN Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA. 368 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGCTTTAGCCTGAAGTCAAA 0.532000 41 15 0 0 0.002450 0 0 OSMR 9180 broad.mit.edu 37 5 38924670 38924671 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:38924670_38924671CC>AT uc003jln.2 + 13 2419_2420 c.2017_2018CC>AT c.(2017-2019)cca>ATa p.P673I OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 673 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GCAGTGCCACCCACGATTTGAA 0.361000 51 11 0 0 0.004672 0 0 DPP4 1803 broad.mit.edu 37 2 162875264 162875264 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:162875264C>T uc002ubz.3 - 15 1956 c.1395G>A c.(1393-1395)gcG>gcA p.A465A DPP4_uc010fpb.3_Silent_p.A141A NM_001935 NP_001926 P27487 DPP4_HUMAN Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA. 465 T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.A465A(4)|p.A465V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) GATAATACTTCGCCTCTTTAC 0.473000 49 15 0 0 0.003163 0 0 COL4A3 1285 broad.mit.edu 37 2 228137770 228137771 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:228137770_228137771GG>AA uc002vom.2 + 25 2026_2027 c.1864_1865GG>AA c.(1864-1866)gga>AAa p.G622K BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 622 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.G622E(3) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CGGACCCCAAGGAGAACCTGGT 0.624000 35 11 0 0 0.004672 0 0 DMXL2 23312 broad.mit.edu 37 15 51857296 51857296 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:51857296C>T uc010ufy.2 - 3 578 c.353G>A c.(352-354)tGg>tAg p.W118* DMXL2_uc002abf.3_Nonsense_Mutation_p.W118*|DMXL2_uc010bfa.3_Nonsense_Mutation_p.W118* NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 118 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTGAGGATCCCATGCTAAGTT 0.284000 4 3 0 0 0.004672 0 0 PCSK5 5125 broad.mit.edu 37 9 78784740 78784740 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:78784740G>A uc004akc.2 + 12 2278 c.1740G>A c.(1738-1740)agG>agA p.R580R PCSK5_uc004ajy.2_Silent_p.R580R|PCSK5_uc004ajz.3_Silent_p.R580R|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 580 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTCAGCTAAGGAACTTTAAGA 0.423000 38 19 0 0 0.010504 0 0 ITGB8 3696 broad.mit.edu 37 7 20431099 20431099 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:20431099G>A uc003suu.3 + 6 1739 c.1034G>A c.(1033-1035)gGa>gAa p.G345E ITGB8_uc011jyh.2_Missense_Mutation_p.G210E|ITGB8_uc003sut.3_Missense_Mutation_p.G345E NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 345 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCAGTTCAAGGAAAACAATTT 0.284000 20 8 0 0 0.004482 0 0 PASD1 139135 broad.mit.edu 37 X 150832599 150832599 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:150832599T>C uc004fev.4 + 10 1182 c.850T>C c.(850-852)Ttg>Ctg p.L284L NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 284 nucleus signal transducer activity p.S283F(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGCCTTATCCTTGCAAGACTT 0.478000 20 15 0 0 0.004007 0 0 BLVRA 644 broad.mit.edu 37 7 43832342 43832342 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:43832342C>T uc010kxv.3 + 5 460 c.283C>T c.(283-285)Ctt>Ttt p.L95F BLVRA_uc003tir.3_Missense_Mutation_p.L95F NM_001253823 NP_001240752 P53004 BIEA_HUMAN Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA. 95 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) CAAGCACGTCCTTGTGGAATA 0.468000 24 8 0 0 0.006214 0 0 MYLK2 85366 broad.mit.edu 37 20 30407947 30407947 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:30407947C>T uc002wwq.2 + 2 173 c.71C>T c.(70-72)cCc>cTc p.P24L NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA. 24 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTAAAGGTCCCACAGGTGAA 0.602000 31 15 0 0 0.004007 0 0 DEFB118 117285 broad.mit.edu 37 20 29960723 29960723 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:29960723G>A uc002wvr.3 + 1 155 c.122G>A c.(121-123)gGa>gAa p.G41E NM_054112 NP_473453 Q96PH6 DB118_HUMAN Homo sapiens defensin, beta 118 (DEFB118), mRNA. 41 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGCAAAGATGGAGAAGCAGTG 0.433000 22 15 0 0 0.004990 0 0 UNC5C 8633 broad.mit.edu 37 4 96256715 96256715 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:96256715G>A uc003hto.3 - 1 545 c.192C>T c.(190-192)ttC>ttT p.F64F UNC5C_uc010ilc.2_Silent_p.F64F|UNC5C_uc003htq.3_Silent_p.F64F NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 64 Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCTCAATAAGGAAATGTGGCA 0.413000 19 8 0 0 0.003080 0 0 CSDC2 27254 broad.mit.edu 37 22 41968137 41968137 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:41968137C>T uc003bak.1 + 1 465 c.168C>T c.(166-168)acC>acT p.T56T NM_014460 NP_055275 Q9Y534 CSDC2_HUMAN Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA. 56 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|protein binding prostate(2)|upper_aerodigestive_tract(1) 3 GGACCAGGACCTATTCAGCGT 0.652000 8 4 0 0 0.001168 0 0 SLC4A9 83697 broad.mit.edu 37 5 139740441 139740441 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:139740441G>A uc003lfm.2 + 1 382 c.347G>A c.(346-348)tGg>tAg p.W116* SLC4A9_uc003lfj.2_Nonsense_Mutation_p.W92*|SLC4A9_uc011czg.1_Nonsense_Mutation_p.W92*|SLC4A9_uc003lfl.2_Nonsense_Mutation_p.W92*|SLC4A9_uc003lfk.2_Nonsense_Mutation_p.W92* NM_031467 NP_113655 Q96Q91 B3A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA. 116 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.R115R(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGCCGGTGGAGTGCCCCC 0.622000 18 13 0 0 0.004007 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855633 12855633 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12855633C>T uc001auj.2 + 3 1016 c.913C>T c.(913-915)Cta>Tta p.L305L NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 305 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTATGGCTACCTATTGGAAGA 0.473000 61 26 0 0 0.003755 0 0 PTPRT 11122 broad.mit.edu 37 20 40733211 40733211 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:40733211G>A uc002xkg.3 - 24 3722 c.3538C>T c.(3538-3540)Cag>Tag p.Q1180* PTPRT_uc010ggj.3_Nonsense_Mutation_p.Q1199*|PTPRT_uc010ggi.3_Nonsense_Mutation_p.Q383* NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1180 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.S1180F(1)|p.Q1202K(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCTCATACCTGAAATTCATCT 0.443000 42 19 0 0 0.008871 0 0 VPS13B 157680 broad.mit.edu 37 8 100523548 100523548 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:100523548C>T uc003yiv.3 + 28 4627 c.4516C>T c.(4516-4518)Cct>Tct p.P1506S VPS13B_uc003yiw.3_Missense_Mutation_p.P1481S|VPS13B_uc003yix.1_Missense_Mutation_p.P976S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1506 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCTTTATTTTCCTTTACTTAA 0.353000 22 7 0 0 0.001984 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858604 9858605 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:9858604_9858605CC>TT uc010uym.2 - 13 3106_3107 c.2796_2797GG>AA c.(2794-2799)atggac>atAAac p.932_933MD>IN GRIN2A_uc002czo.4_Missense_Mutation_p.932_933MD>IN|GRIN2A_uc010uyn.2_Missense_Mutation_p.775_776MD>IN|GRIN2A_uc002czr.4_Missense_Mutation_p.932_933MD>IN NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 932 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAACCATGTCCATGATGAGGG 0.441000 69 36 0 0 0.004672 0 0 EXOSC5 56915 broad.mit.edu 37 19 41903149 41903149 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:41903149G>A uc002oqo.3 - 0 108 c.85C>T c.(85-87)Cgg>Tgg p.R29W BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN Homo sapiens exosome component 5 (EXOSC5), mRNA. 29 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|RNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 GCAAAGTGCCGGAGGCTGCAG 0.592000 64 33 0 0 0.002445 0 0 APOA1 335 broad.mit.edu 37 11 116707761 116707761 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:116707761G>A uc001ppv.1 - 2 194 c.156C>T c.(154-156)gaC>gaT p.D52D NM_000039 NP_000030 P02647 APOA1_HUMAN Homo sapiens apolipoprotein A-I (APOA1), mRNA. 52 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GGGACACATAGTCTCTGCCGC 0.592000 237 107 0 0 0.003610 0 0 LAMB1 3912 broad.mit.edu 37 7 107564460 107564460 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:107564460C>T uc003vev.2 - 31 5530 c.5369G>A c.(5368-5370)gGa>gAa p.G1790E LAMB1_uc003vew.2_Missense_Mutation_p.G1766E NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 1766 axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGGACTTCTCCTTCCAGTCT 0.358000 30 6 0 0 0.001168 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481765 140481765 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140481765G>A uc003lio.3 + 0 1532 c.1532G>A c.(1531-1533)gGc>gAc p.G511D BC016751_uc003lin.3_Non-coding_Transcript NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 511 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGACAACGGCCACCTGTTT 0.667000 56 25 0 0 0.005443 0 0 PSG5 5673 broad.mit.edu 37 19 43689225 43689225 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:43689225C>T uc002ovu.3 - 1 270 c.139G>A c.(139-141)Gag>Aag p.E47K PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E47K NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 47 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TCCTTCCCCTCGGAAACTTTG 0.468000 86 46 0 0 0.003610 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965601 35965601 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:35965601C>A uc003jjv.2 - 3 923 c.730G>T c.(730-732)Gca>Tca p.A244S UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.A244S|UGT3A1_uc011cor.2_Missense_Mutation_p.A210S|UGT3A1_uc003jjy.2_Missense_Mutation_p.A190S NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 244 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACAACTCTGCTTTCAGTAGA 0.448000 30 11 3.07112e-06 3.12688e-06 0.000978 1 0 ABCB5 340273 broad.mit.edu 37 7 20778753 20778753 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:20778753G>A uc010kuh.3 + 23 3252 c.3015G>A c.(3013-3015)ggG>ggA p.G1005G ABCB5_uc003suw.4_Silent_p.G560G NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 560 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTCAAGAAGGGAAAAAGCCAG 0.478000 6 5 0 0 0.000602 0 0 KCNH2 3757 broad.mit.edu 37 7 150645555 150645555 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150645555G>A uc003wic.3 - 10 3070 c.2669C>T c.(2668-2670)tCc>tTc p.S890F KCNH2_uc003wib.3_Missense_Mutation_p.S550F|KCNH2_uc011kux.2_Missense_Mutation_p.S794F NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 890 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCTGCGGAAGGACAACTTGCG 0.652000 36 5 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179398780 179398780 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179398780C>T uc021vsy.1 - 306 95083 c.94858G>A c.(94858-94860)Gaa>Aaa p.E31620K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25315K|TTN_uc021vta.1_Missense_Mutation_p.E25248K|TTN_uc021vtb.1_Missense_Mutation_p.E25123K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32547 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) ACTCCATCTTCGTAGGTGATT 0.398000 27 18 0 0 0.004990 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283589 40283589 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:40283589T>A uc003ayg.3 - 1 415 c.164A>T c.(163-165)aAt>aTt p.N55I NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 55 ENTH. breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CCACAGCATATTCATAATCTC 0.423000 52 21 0 0 0.002780 0 0 ZNF560 147741 broad.mit.edu 37 19 9578870 9578870 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9578870G>A uc002mlp.1 - 9 963 c.753C>T c.(751-753)ctC>ctT p.L251L ZNF560_uc010dwr.1_Silent_p.L145L NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ATAGAGAAAGGAGGTCTTTTG 0.373000 36 9 0 0 0.000978 0 0 COL4A5 1287 broad.mit.edu 37 X 107834830 107834830 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:107834830G>A uc022ccg.1 + 20 1581 c.1379G>A c.(1378-1380)gGa>gAa p.G460E COL4A5_uc004enz.1_Missense_Mutation_p.G460E|COL4A5_uc004eob.1_Missense_Mutation_p.G68E NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 460 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCCCCCCAGGATCTCCAGGT 0.398000 Alport syndrome with Diffuse Leiomyomatosis 15 31 0 0 0.004289 0 0 NLRP7 199713 broad.mit.edu 37 19 55449500 55449500 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55449500C>T uc002qih.4 - 4 2117 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K NLRP7_uc010esk.3_Missense_Mutation_p.E681K|NLRP7_uc002qig.4_Missense_Mutation_p.E653K|NLRP7_uc002qii.4_Missense_Mutation_p.E681K|NLRP7_uc010esl.3_Missense_Mutation_p.E709K NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 681 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGTTTCACTTCCAGAAACTTG 0.498000 90 39 0 0 0.006999 0 0 KPNA3 3839 broad.mit.edu 37 13 50306751 50306751 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:50306751G>A uc001vdj.2 - 4 692 c.277C>T c.(277-279)Cag>Tag p.Q93* NM_002267 NP_002258 O00505 IMA3_HUMAN Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA. 93 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) CTTGCTGCCTGGACAGCACTC 0.328000 56 28 0 0 0.002836 0 0 FGA 2243 broad.mit.edu 37 4 155508061 155508061 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:155508061C>T uc003iod.1 - 4 578 c.520G>A c.(520-522)Gat>Aat p.D174N FGA_uc003ioe.1_Missense_Mutation_p.D174N|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 174 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ATCTTAATATCAATGTCCACC 0.398000 33 11 0 0 0.001368 0 0 NWD1 284434 broad.mit.edu 37 19 16902315 16902315 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16902315G>A uc002neu.4 + 13 3517 c.3095G>A c.(3094-3096)gGa>gAa p.G1032E NWD1_uc002net.4_Missense_Mutation_p.G897E|NWD1_uc002nev.4_Missense_Mutation_p.G826E|NWD1_uc021uqg.1_Missense_Mutation_p.G897E NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1032 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCAGCTACGGGAAAACTTCAG 0.547000 25 12 0 0 0.000978 0 0 CCDC54 84692 broad.mit.edu 37 3 107096458 107096458 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:107096458G>A uc003dwi.1 + 0 271 c.24G>A c.(22-24)agG>agA p.R8R NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 8 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 ACACCAAAAGGGTAAAAGCTG 0.398000 43 20 0 0 0.008871 0 0 CAV3 859 broad.mit.edu 37 3 8787421 8787421 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:8787421G>A uc003bra.3 + 1 401 c.324G>A c.(322-324)aaG>aaA p.K108K C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Silent_p.K108K NM_001234 NP_001225 P56539 CAV3_HUMAN Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. 108 Required for interaction with DAG1. T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CATGCATTAAGAGCTACCTGA 0.607000 22 10 0 0 0.006214 0 0 CROCC 9696 broad.mit.edu 37 1 17272816 17272816 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:17272816C>T uc001azt.2 + 15 2268 c.2199C>T c.(2197-2199)tcC>tcT p.S733S CROCC_uc009voz.1_Silent_p.S496S|CROCC_uc001azu.2_Silent_p.S36S NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA. 733 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGGAGGCCTCCCTGCAGGACT 0.627000 44 14 0 0 0.002450 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711032 58711032 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:58711032G>A uc001nnh.2 + 1 91 c.41G>A c.(40-42)gGa>gAa p.G14E GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 0 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) tcacaagaaggatctgaagtg 0.438000 11 7 0 0 0.001984 0 0 STAU2 27067 broad.mit.edu 37 8 74495023 74495023 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:74495023G>A uc003xzm.3 - 11 1545 c.1204C>T c.(1204-1206)Cct>Tct p.P402S STAU2_uc011lfh.2_Missense_Mutation_p.P298S|STAU2_uc003xzn.3_Missense_Mutation_p.P370S|STAU2_uc011lfg.2_Missense_Mutation_p.P230S|STAU2_uc003xzo.3_Missense_Mutation_p.P402S|STAU2_uc003xzq.3_Missense_Mutation_p.P182S|STAU2_uc003xzp.3_Missense_Mutation_p.P370S|STAU2_uc011lfi.2_Missense_Mutation_p.P364S|STAU2_uc010lzk.3_Missense_Mutation_p.P370S|STAU2_uc010lzl.1_Missense_Mutation_p.P230S NM_001164380 NP_001157855 Q9NUL3 STAU2_HUMAN Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA. 402 Required for dendritic transport (By similarity). transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GTTGGTTCAGGAAACCCAGGC 0.398000 31 13 0 0 0.003163 0 0 SHANK1 50944 broad.mit.edu 37 19 51205794 51205794 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51205794G>A uc002psx.1 - 10 1696 c.1677C>T c.(1675-1677)ttC>ttT p.F559F NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 559 SH3. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCACAGCCATGAAGGAGCGTC 0.701000 18 8 0 0 0.006214 0 0 ANXA9 8416 broad.mit.edu 37 1 150960762 150960762 + Missense_Mutation SNP C T T rs150067239 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:150960762C>T uc001ewa.2 + 11 1267 c.797C>T c.(796-798)tCg>tTg p.S266L NM_003568 NP_003559 O76027 ANXA9_HUMAN Homo sapiens annexin A9 (ANXA9), mRNA. 266 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCCAGCTTCGGTGATCAAG 0.517000 53 16 0 0 0.010504 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115534 15115534 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:15115534G>A uc003bzm.1 - 13 2724 c.2110C>T c.(2110-2112)Cct>Tct p.P704S ZFYVE20_uc010hek.1_Missense_Mutation_p.P704S NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA. 704 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GGAACCAGAGGGCTTGAGAGC 0.562000 65 34 0 0 0.003755 0 0 PIPOX 51268 broad.mit.edu 37 17 27383203 27383203 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:27383203C>T uc002hdr.1 + 7 1379 c.1053C>T c.(1051-1053)ttC>ttT p.F351F NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN Homo sapiens pipecolic acid oxidase (PIPOX), mRNA. 351 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GGCACGGGTTCAAGCTGGCCC 0.522000 42 15 0 0 0.004007 0 0 ODZ1 10178 broad.mit.edu 37 X 123663718 123663718 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:123663718C>T uc010nqy.3 - 15 2831 c.2767G>A c.(2767-2769)Gga>Aga p.G923R ODZ1_uc011muj.2_Missense_Mutation_p.G922R|ODZ1_uc004euj.3_Missense_Mutation_p.G923R NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 923 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 ACATACCTTCCATCTTGCCGG 0.483000 20 26 0 0 0.009535 0 0 SACS 26278 broad.mit.edu 37 13 23904967 23904967 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:23904967C>T uc001uon.2 - 9 13637 c.13048G>A c.(13048-13050)Gaa>Aaa p.E4350K SACS_uc001uoo.2_Missense_Mutation_p.E4203K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 4350 J. cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTAAAAACTTCATTGGCAATG 0.383000 36 23 0 0 0.002299 0 0 IQCF3 401067 broad.mit.edu 37 3 51864793 51864793 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:51864793C>T uc021wyy.1 + 6 1229 c.441C>T c.(439-441)ttC>ttT p.F147F IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Silent_p.F147F NM_001085479 NP_001193952 P0C7M6 IQCF3_HUMAN Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA. 147 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGCCAGAGTTCCACATTGAAA 0.488000 22 11 0 0 0.008291 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64569190 64569190 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:64569190G>A uc003jtp.3 - 11 2411 c.1597C>T c.(1597-1599)Caa>Taa p.Q533* ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.Q154* NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 533 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TTCCCAGTTTGACACAGTGTC 0.433000 101 41 0 0 0.003610 0 0 TBC1D29 26083 broad.mit.edu 37 17 28890221 28890221 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:28890221C>T uc002hfh.3 + 4 922 c.231C>T c.(229-231)gcC>gcT p.A77A TBC1D29_uc002hfi.3_Non-coding_Transcript NM_015594 NP_056409 Q9UFV1 TBC29_HUMAN Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA. 77 intracellular Rab GTPase activator activity breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Myeloproliferative disorder(56;0.0255) CTCACAGGGCCCTCAAGGGCA 0.632000 7 3 0 0 0.004672 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382377 41382377 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41382377G>A uc003jmm.1 - 1 465 c.363C>T c.(361-363)gtC>gtT p.V121V NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 121 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGCCTTCATTGACTTTGGCAC 0.433000 42 19 0 0 0.008871 0 0 GGT7 2686 broad.mit.edu 37 20 33450629 33450629 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:33450629G>A uc002xay.3 - 2 588 c.545C>T c.(544-546)tCt>tTt p.S182F GGT7_uc002xaz.1_Missense_Mutation_p.S199F|GGT7_uc002xba.1_Missense_Mutation_p.S182F NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA. 182 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GCCCAGGCCAGAACTGTGTGG 0.592000 39 22 0 0 0.002299 0 0 DNAH2 146754 broad.mit.edu 37 17 7664188 7664188 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:7664188C>T uc002giu.1 + 16 2930 c.2916C>T c.(2914-2916)tcC>tcT p.S972S NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 972 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACAAGGACTCCTTCATTCATC 0.532000 38 23 0 0 0.003954 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283477 33283477 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:33283477G>A uc003oeb.3 - 1 1369 c.1217C>T c.(1216-1218)tCc>tTc p.S406F TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.S406F|ZBTB22_uc021ywm.1_Missense_Mutation_p.S406F NM_005453 NP_005444 O15209 ZBT22_HUMAN Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA. 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GGGGGCATAGGAAGAGGGAGT 0.592000 141 35 0 0 0.003755 0 0 SLC27A1 376497 broad.mit.edu 37 19 17598335 17598335 + Missense_Mutation SNP G T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:17598335G>T uc002ngu.1 + 3 841 c.791G>T c.(790-792)aGc>aTc p.S264I SLC27A1_uc002ngt.1_5'UTR|SLC27A1_uc010xpp.1_Missense_Mutation_p.S85I NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA. 264 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GTCGTGCACAGCAGGTGAGGG 0.612000 12 5 3.59834e-05 3.6563e-05 0.001168 1 0 AKAP8L 26993 broad.mit.edu 37 19 15511150 15511150 + Missense_Mutation SNP C G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15511150C>G uc002naw.1 - 7 1103 c.1004G>C c.(1003-1005)gGa>gCa p.G335A AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.G274A|AKAP8L_uc002nay.1_Missense_Mutation_p.G335A NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA. 335 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 ATCCTCTTTTCCCTCCTCATC 0.458000 41 12 0 0 0.003163 0 0 DNAH8 1769 broad.mit.edu 37 6 38862567 38862567 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38862567G>A uc021yzh.1 + 58 8783 c.8674G>A c.(8674-8676)Gct>Act p.A2892T DNAH8_uc003ooe.2_Missense_Mutation_p.A2675T NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GACCATAAAAGCTGAGGAGTG 0.438000 16 9 0 0 0.006214 0 0 ANGPT4 51378 broad.mit.edu 37 20 854937 854937 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:854937C>T uc002wei.3 - 7 1444 c.1341G>A c.(1339-1341)gtG>gtA p.V447V ANGPT4_uc010zpn.2_Intron NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 447 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 CTCCAGACATCACTTGGGCAC 0.617000 40 22 0 0 0.002780 0 0 PBRM1 55193 broad.mit.edu 37 3 52643747 52643747 + Nonsense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:52643747T>A uc003des.2 - 15 2161 c.2149A>T c.(2149-2151)Aag>Tag p.K717* PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.K717*|PBRM1_uc003der.2_Nonsense_Mutation_p.K685*|PBRM1_uc003det.2_Nonsense_Mutation_p.K732*|PBRM1_uc003deu.2_Nonsense_Mutation_p.K732*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.K717*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.K717*|PBRM1_uc003dey.2_Nonsense_Mutation_p.K717*|PBRM1_uc003dez.1_Nonsense_Mutation_p.K717*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.K630*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.K63*|PBRM1_uc003dfc.3_Nonsense_Mutation_p.K84* NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 717 Bromo 5. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCTTGGTACTTGTTGGCCATC 0.398000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 46 22 0 0 0.001882 0 0 NRXN2 9379 broad.mit.edu 37 11 64453402 64453402 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:64453402C>T uc021qkw.1 - 5 1330 c.868G>A c.(868-870)Gcg>Acg p.A290T NRXN2_uc021qkx.1_Missense_Mutation_p.A266T|NRXN2_uc001oas.3_Missense_Mutation_p.A266T|NRXN2_uc001oaq.3_5'UTR NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 290 Laminin G-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TTGAAGGTCGCCACAAACTCC 0.582000 24 10 0 0 0.008291 0 0 OR1L8 138881 broad.mit.edu 37 9 125330619 125330619 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125330619G>A uc004bmp.1 - 0 138 c.138C>T c.(136-138)atC>atT p.I46I NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGGCCAGGATGATGAGCAGGT 0.483000 44 24 0 0 0.003954 0 0 FNBP4 23360 broad.mit.edu 37 11 47744803 47744803 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:47744803G>A uc009ylv.3 - 14 2683 c.2530C>T c.(2530-2532)Ctt>Ttt p.L844F FNBP4_uc001ngj.3_Missense_Mutation_p.L751F NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN Homo sapiens formin binding protein 4 (FNBP4), mRNA. 844 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GCTGCTGGAAGGCTAACTGGT 0.458000 56 29 0 0 0.004289 0 0 SKAP1 8631 broad.mit.edu 37 17 46423357 46423357 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:46423357C>T uc002ini.1 - 3 302 c.190G>A c.(190-192)Gga>Aga p.G64R SKAP1_uc002inj.1_Missense_Mutation_p.G64R|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.G64R NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA. 64 T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|plasma membrane SH2 domain binding|antigen binding|protein kinase binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 CTGTCCTGTCCAATGTCTCCC 0.428000 17 9 0 0 0.008291 0 0 DNAH8 1769 broad.mit.edu 37 6 38998124 38998124 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38998124C>T uc021yzh.1 + 92 14189 c.14080C>T c.(14080-14082)Cac>Tac p.H4694Y DNAH8_uc003ooe.2_Missense_Mutation_p.H4477Y NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTCCCCGGATCACTGGATCCT 0.478000 59 23 0 0 0.002299 0 0 CALN1 83698 broad.mit.edu 37 7 71571220 71571220 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:71571220C>T uc003twb.4 - 3 695 c.304G>A c.(304-306)Gag>Aag p.E102K CALN1_uc003twa.4_Missense_Mutation_p.E60K|CALN1_uc003twc.4_Missense_Mutation_p.E60K NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 60 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ATGCCCAGCTCCTGCTTGGAG 0.562000 27 8 0 0 0.004482 0 0 TTPA 7274 broad.mit.edu 37 8 63978529 63978529 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:63978529A>G uc003xux.2 - 2 518 c.486T>C c.(484-486)ggT>ggC p.G162G NM_000370 NP_000361 P49638 TTPA_HUMAN Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA. 162 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) AAAACTGCCAACCTTCCAGAT 0.398000 16 6 0 0 0.001984 0 0 COL5A3 50509 broad.mit.edu 37 19 10089653 10089653 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:10089653C>T uc002mmq.1 - 39 2964 c.2878G>A c.(2878-2880)Gaa>Aaa p.E960K NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 960 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGTCCCAGTTCCCCCTACAGG 0.622000 11 3 0 0 0.004672 0 0 MEFV 4210 broad.mit.edu 37 16 3293258 3293258 + Silent SNP G A A rs104895152 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3293258G>A uc002cun.1 - 9 2269 c.2229C>T c.(2227-2229)ttC>ttT p.F743F MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Silent_p.F323F|MEFV_uc021tby.1_Silent_p.F246F|MEFV_uc021tbz.1_Silent_p.F162F|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 743 B30.2/SPRY. F -> L (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) AGCAGCTGGCGAATGTATAGA 0.517000 61 20 0 0 0.010504 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175466 207175466 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:207175466G>A uc002vbp.2 + 4 6464 c.6214G>A c.(6214-6216)Gag>Aag p.E2072K NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 2072 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AATAGTACCAGAGTTTGAGAG 0.378000 15 11 0 0 0.000978 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677598 37677598 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:37677598G>A uc002ofq.3 - 4 1093 c.841C>T c.(841-843)Cag>Tag p.Q281* ZNF585B_uc002ofr.1_Nonsense_Mutation_p.Q95* NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTGTTTTCTGGATGAAGGCC 0.413000 100 32 0 0 0.003755 0 0 THSD7B 80731 broad.mit.edu 37 2 138414698 138414698 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:138414698G>A uc002tva.1 + 22 4253 c.4253G>A c.(4252-4254)tGg>tAg p.W1418* THSD7B_uc010zbj.1_Non-coding_Transcript NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CGAACTGTATGGTGCCAGCGT 0.413000 41 14 0 0 0.004007 0 0 APOB 338 broad.mit.edu 37 2 21231675 21231675 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:21231675G>A uc002red.3 - 25 8193 c.8065C>T c.(8065-8067)Cca>Tca p.P2689S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2689 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) TATATATCTGGAACGGGCCAC 0.438000 312 147 0 0 0.003610 0 0 FRK 2444 broad.mit.edu 37 6 116263665 116263665 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:116263665C>T uc003pwi.1 - 7 1877 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q NM_002031 NP_002022 P42685 FRK_HUMAN Homo sapiens fyn-related kinase (FRK), mRNA. 477 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AAATGTAGGTCGTTCCTTAGG 0.408000 60 14 0 0 0.003163 0 0 TNFSF8 944 broad.mit.edu 37 9 117680408 117680408 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:117680408G>A uc004bji.2 - 1 498 c.206C>T c.(205-207)cCc>cTc p.P69L TNFSF8_uc022bmi.1_Missense_Mutation_p.P69L NM_001244 NP_001235 P32971 TNFL8_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA. 69 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 AGGTGAGTTGGGAATGGAGTC 0.373000 12 3 0 0 0.000602 0 0 PVRL2 5819 broad.mit.edu 37 19 45368885 45368885 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:45368885C>T uc002ozw.1 + 1 836 c.446C>T c.(445-447)tCc>tTc p.S149F PVRL2_uc002ozv.3_Missense_Mutation_p.S149F NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA. 149 Ig-like V-type. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CCCAAGGGGTCCGTCCGAGGG 0.662000 38 29 0 0 0.009535 0 0 SALL1 6299 broad.mit.edu 37 16 51175809 51175809 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:51175809C>T uc021tif.1 - 1 355 c.33G>A c.(31-33)gtG>gtA p.V11V SALL1_uc021tid.1_Silent_p.V11V|SALL1_uc021tie.1_Silent_p.V108V|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 108 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGCTGCAGTCCACTTGATCTG 0.532000 65 29 0 0 0.002445 0 0 FSTL4 23105 broad.mit.edu 37 5 132535325 132535325 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:132535325C>T uc003kyn.1 - 15 2209 c.1991G>A c.(1990-1992)aGc>aAc p.S664N FSTL4_uc003kym.1_Missense_Mutation_p.S313N NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 664 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGAGGCGGGGCTGTCCTGTCG 0.637000 29 12 0 0 0.000978 0 0 PDLIM5 10611 broad.mit.edu 37 4 95506861 95506861 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:95506861C>T uc003hti.3 + 5 1007 c.856C>T c.(856-858)Ctt>Ttt p.L286F PDLIM5_uc003htf.3_Missense_Mutation_p.L163F|PDLIM5_uc003htg.3_Missense_Mutation_p.L183F|PDLIM5_uc011cdx.1_Missense_Mutation_p.L183F|PDLIM5_uc003htj.3_5'UTR|PDLIM5_uc003htk.3_Missense_Mutation_p.L183F|PDLIM5_uc011cdy.2_Missense_Mutation_p.L164F|PDLIM5_uc003hth.3_Missense_Mutation_p.L177F|PDLIM5_uc003htl.3_5'UTR NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA. 286 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TTTCCGAATCCTTGCCCAGAT 0.468000 33 8 0 0 0.006214 0 0 MCAM 4162 broad.mit.edu 37 11 119182038 119182038 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:119182038C>A uc001pwf.3 - 11 1530 c.1501G>T c.(1501-1503)Gcc>Tcc p.A501S MCAM_uc001pwg.1_5'Flank NM_006500 NP_006491 P43121 MUC18_HUMAN Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA. 501 Ig-like C2-type 3. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) TCGTTGGAGGCCGTGCATTCA 0.617000 23 8 1.12685e-05 1.14577e-05 0.004482 1 0 MME 4311 broad.mit.edu 37 3 154886527 154886527 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:154886527G>A uc010hvr.1 + 19 2132 c.1921G>A c.(1921-1923)Gga>Aga p.G641R MME_uc003fab.1_Missense_Mutation_p.G641R|MME_uc003fac.1_Missense_Mutation_p.G641R|MME_uc003fad.1_Missense_Mutation_p.G641R|MME_uc003fae.1_Missense_Mutation_p.G641R NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 641 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) ACAGCTTAATGGAATTAATAC 0.299000 25 11 0 0 0.002450 0 0 MYH4 4622 broad.mit.edu 37 17 10362577 10362577 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10362577G>A uc002gmn.3 - 14 1689 c.1578C>T c.(1576-1578)ctC>ctT p.L526L AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 526 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CCTTCTCGATGAGCTCGATGC 0.478000 55 22 0 0 0.003954 0 0 KCNK10 54207 broad.mit.edu 37 14 88693803 88693803 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:88693803G>A uc001xwm.3 - 3 719 c.597C>T c.(595-597)ctC>ctT p.L199L KCNK10_uc001xwn.3_Silent_p.L199L|KCNK10_uc001xwo.3_Silent_p.L194L NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 194 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.L199L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGAAACCAAAGAGTGGAATTC 0.413000 55 24 0 0 0.002780 0 0 INPP5D 3635 broad.mit.edu 37 2 234106748 234106748 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:234106748C>T uc010zmo.2 + 23 2767 c.2614C>T c.(2614-2616)Ccg>Tcg p.P872S INPP5D_uc010zmp.2_Missense_Mutation_p.P871S NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 901 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAGGGCCCCTCCGTGCAGTGG 0.597000 13 4 0 0 0.009096 0 0 OR4M2 390538 broad.mit.edu 37 15 22369378 22369378 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:22369378C>T uc010tzu.2 + 0 901 c.803C>T c.(802-804)tCc>tTc p.S268F abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(2) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTCGTTTTCCCTAGATAAA 0.423000 98 14 0 0 0.004007 0 0 ASTN2 23245 broad.mit.edu 37 9 119976662 119976662 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:119976662T>C uc004bjt.2 - 2 1091 c.990A>G c.(988-990)gaA>gaG p.E330E ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 330 integral to membrane p.G329V(1)|p.E330*(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 CCACCTTCTCTTCCCCTGGAT 0.567000 57 25 0 0 0.003954 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288818 7288818 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:7288818C>T uc001qss.3 + 4 1333 c.795C>T c.(793-795)atC>atT p.I265I CLSTN3_uc001qsr.3_Silent_p.I253I NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 253 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACAAAAGGATCGAATATGCAC 0.552000 33 20 0 0 0.010504 0 0 MARS2 92935 broad.mit.edu 37 2 198570826 198570826 + Missense_Mutation SNP A G G rs150082953 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:198570826A>G uc002uuq.3 + 0 799 c.697A>G c.(697-699)Atc>Gtc p.I233V BC021693_uc002uup.3_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA. 233 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CCCTCAGGCGATCACCCCCGA 0.587000 32 12 0 0 0.001368 0 0 DGKG 1608 broad.mit.edu 37 3 186038225 186038225 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:186038225G>A uc003fqa.3 - 1 561 c.24C>T c.(22-24)tcC>tcT p.S8S DGKG_uc003fqb.3_Silent_p.S8S|DGKG_uc003fqc.3_Silent_p.S8S|DGKG_uc011brx.2_Silent_p.S8S NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 8 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CTGGAGTGAGGGAGACCCACC 0.468000 35 14 0 0 0.003163 0 0 GPR158 57512 broad.mit.edu 37 10 25755615 25755615 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:25755615G>A uc001isj.3 + 4 1431 c.1371G>A c.(1369-1371)acG>acA p.T457T NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 457 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTTGGAAACGATCCTTTTTG 0.338000 24 12 0 0 0.001855 0 0 ILDR2 387597 broad.mit.edu 37 1 166904701 166904701 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:166904701C>T uc001gdx.2 - 5 773 c.717G>A c.(715-717)ggG>ggA p.G239G NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 239 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TTGCTGCTTTCCCTGCTTCAT 0.582000 19 7 0 0 0.003080 0 0 THSD7B 80731 broad.mit.edu 37 2 137988647 137988647 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:137988647C>T uc002tva.1 + 6 1664 c.1664C>T c.(1663-1665)cCc>cTc p.P555L THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P445L NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGCCCAGTTCCCCCTCCTCCT 0.473000 29 13 0 0 0.002450 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40837285 40837285 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:40837285C>T uc002iay.3 + 4 778 c.562C>T c.(562-564)Ccg>Tcg p.P188S CNTNAP1_uc010wgs.2_Non-coding_Transcript NM_003632 NP_003623 P78357 CNTP1_HUMAN Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA. 188 axon guidance|cell adhesion paranode region of axon SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CTACCGCTTCCCGCGAGGGGT 0.647000 61 10 0 0 0.008291 0 0 HDAC9 9734 broad.mit.edu 37 7 18975558 18975558 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:18975558G>A uc003sui.3 + 21 2971 c.2930G>A c.(2929-2931)gGa>gAa p.G977E HDAC9_uc003sue.3_Missense_Mutation_p.G974E|HDAC9_uc003suh.3_Missense_Mutation_p.G974E|HDAC9_uc003suj.3_Missense_Mutation_p.G933E|HDAC9_uc003suk.3_Missense_Mutation_p.G222E NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 974 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCCCTTCTAGGAAATGAGGTA 0.408000 63 21 0 0 0.010504 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092827 147092827 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:147092827G>A uc003weu.2 + 9 2141 c.1625G>A c.(1624-1626)gGa>gAa p.G542E MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 542 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.P541P(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGGAAGCCGGGAAGTTTCGCG 0.438000 HNSCC(39;0.1) 47 17 0 0 0.007413 0 0 KCNH7 90134 broad.mit.edu 37 2 163302691 163302691 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:163302691A>T uc002uch.2 - 6 1620 c.1391T>A c.(1390-1392)aTa>aAa p.I464K KCNH7_uc002uci.3_Missense_Mutation_p.I457K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 464 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TAAAATATCTATGATAAACAT 0.358000 17 6 0 0 0.001168 0 0 COL4A1 1282 broad.mit.edu 37 13 110827028 110827028 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:110827028G>A uc001vqw.4 - 37 3389 c.3267C>T c.(3265-3267)atC>atT p.I1089I NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1089 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCATTCCTGGGATCCCAATGC 0.527000 99 47 0 0 0.003610 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058892 152058892 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152058892C>T uc001ezo.1 - 2 1331 c.1266G>A c.(1264-1266)caG>caA p.Q422Q NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 422 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACTTCCCATCCTGTGTTTGGG 0.458000 45 27 0 0 0.004656 0 0 OR6B1 135946 broad.mit.edu 37 7 143701745 143701745 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:143701745G>A uc003wdt.1 + 0 656 c.656G>A c.(655-657)gGa>gAa p.G219E NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G219R(1)|p.G219*(1) breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CTGTCCTACGGATGCATTCTG 0.473000 74 33 0 0 0.002445 0 0 TULP1 7287 broad.mit.edu 37 6 35478719 35478719 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:35478719G>A uc003okv.4 - 4 430 c.418C>T c.(418-420)Ctt>Ttt p.L140F TULP1_uc003okw.4_Missense_Mutation_p.L87F|TULP1_uc021yyx.1_Missense_Mutation_p.L140F|TULP1_uc021yyy.1_Missense_Mutation_p.L140F NM_003322 NP_003313 O00294 TULP1_HUMAN Homo sapiens tubby like protein 1 (TULP1), mRNA. 140 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GGAGGCAGAAGGATTTTctct 0.577000 47 40 0 0 0.005524 0 0 OR52E4 390081 broad.mit.edu 37 11 5906188 5906188 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5906188C>T uc010qzs.2 + 0 666 c.666C>T c.(664-666)atC>atT p.I222I TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGTGCTTATCCTTAGAGCTG 0.423000 56 23 0 0 0.001882 0 0 KCNK1 3775 broad.mit.edu 37 1 233807093 233807093 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:233807093C>T uc010pxo.1 + 2 996 c.828C>T c.(826-828)ttC>ttT p.F276F NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 276 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGAAAAAATTCAGAAAAATGT 0.463000 23 14 0 0 0.002450 0 0 MTX1 4580 broad.mit.edu 37 1 155182223 155182223 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:155182223G>A uc001fjb.3 + 4 925 c.819G>A c.(817-819)cgG>cgA p.R273R MTX1_uc001fjc.3_Silent_p.R242R NM_002455 NP_002446 Q13505 MTX1_HUMAN Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA. 273 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AAGTGACCCGGAAGTGGTATG 0.552000 53 9 0 0 0.000978 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899902 151899902 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:151899902G>A uc022chj.1 - 0 899 c.899C>T c.(898-900)tCc>tTc p.S300F MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.S300F|MAGEA12_uc022chi.1_Missense_Mutation_p.S300F|MAGEA12_uc004fgc.3_Missense_Mutation_p.S300F NM_005367 NP_005358 P43365 MAGAC_HUMAN Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA. 300 MAGE. S -> P (in Ref. 1; AAA19023). breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGGTGGGTAGGAAATGTGAGG 0.567000 35 39 0 0 0.007835 0 0 ATP8A1 10396 broad.mit.edu 37 4 42577650 42577650 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:42577650C>T uc003gwr.2 - 12 1427 c.1195G>A c.(1195-1197)Gaa>Aaa p.E399K ATP8A1_uc003gws.2_Missense_Mutation_p.E399K|ATP8A1_uc011byz.1_Missense_Mutation_p.E399K NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 399 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TGGCCAAGTTCCTCATTCAGA 0.358000 79 33 0 0 0.004289 0 0 DZIP1 22873 broad.mit.edu 37 13 96274644 96274644 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:96274644G>A uc001vmk.3 - 8 1915 c.1063C>T c.(1063-1065)Cca>Tca p.P355S DZIP1_uc001vml.3_Missense_Mutation_p.P355S NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 355 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TGGGGATATGGAGAACGGTCT 0.423000 34 15 0 0 0.003163 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 2603 2603 + RNA SNP C G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrGL000237.1:2603C>G uc011mgu.1 - 0 c.84G>C Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. gttacaggctccagcctccag 0.612000 0 2 0 0 0.004672 0 0 ATL1 51062 broad.mit.edu 37 14 51099023 51099023 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:51099023A>G uc021rsw.1 + 13 1884 c.1643A>G c.(1642-1644)gAa>gGa p.E548G ATL1_uc001wyd.4_Missense_Mutation_p.E543G|ATL1_uc001wyf.4_Missense_Mutation_p.E546G|ATL1_uc001wye.4_Missense_Mutation_p.E543G|ATL1_uc021rsx.1_Missense_Mutation_p.E548G NM_015915 NP_056999 Q8WXF7 ATLA1_HUMAN Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA. 548 Sufficient for membrane association. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 CCAAAGTCGGAATCTACTGAA 0.338000 18 5 0 0 0.001984 0 0 SCN2A 6326 broad.mit.edu 37 2 166210824 166210824 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166210824C>T uc002udc.3 + 16 3332 c.3042C>T c.(3040-3042)atC>atT p.I1014I SCN2A_uc002udd.3_Silent_p.I1014I|SCN2A_uc002ude.3_Silent_p.I1014I NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1014 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGAAAGGAATCGATTTTGTTA 0.348000 46 24 0 0 0.002780 0 0 PCDH18 54510 broad.mit.edu 37 4 138451129 138451129 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:138451129G>A uc003ihe.4 - 0 2501 c.2114C>T c.(2113-2115)tCc>tTc p.S705F PCDH18_uc003ihf.4_Missense_Mutation_p.S698F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S485F|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 705 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S705F(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGCTCCTAAGGAAATAATTAT 0.423000 56 19 0 0 0.006122 0 0 TIGD5 84948 broad.mit.edu 37 8 144680469 144680469 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:144680469C>T uc003yyx.2 + 0 396 c.396C>T c.(394-396)ttC>ttT p.F132F EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank NM_032862 NP_116251 E7EWS2 E7EWS2_HUMAN Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA. 132 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) ACGCCTGGTTCCTGGCGCTGC 0.697000 12 4 0 0 0.000602 0 0 TTLL7 79739 broad.mit.edu 37 1 84385483 84385483 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:84385483C>T uc001djc.3 - 12 1795 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 467 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TCATACTTTTCAAGTAATGCT 0.343000 47 13 0 0 0.004007 0 0 FAM83B 222584 broad.mit.edu 37 6 54805518 54805518 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54805518C>T uc003pck.3 + 4 1865 c.1749C>T c.(1747-1749)acC>acT p.T583T NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 583 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCCCAGACACCCCTACGAATG 0.468000 33 11 0 0 0.000978 0 0 SLC45A3 85414 broad.mit.edu 37 1 205589662 205589662 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:205589662G>A uc001hcy.2 - 2 1762 c.512C>T c.(511-513)cCa>cTa p.P171L SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.P171L NM_001973 NP_001964 Q96JT2 S45A3_HUMAN Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA. 0 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TTTCTCGGCTGGATTCTCAGT 0.418000 T """ETV1, ETV5, ELK4, ERG""" prostate 26 13 0 0 0.002450 0 0 USP16 10600 broad.mit.edu 37 21 30400247 30400247 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:30400247C>T uc002ymy.3 + 1 215 c.13C>T c.(13-15)Cgg>Tgg p.R5W USP16_uc002ymx.3_Missense_Mutation_p.R5W|USP16_uc002ymw.3_Missense_Mutation_p.R5W|USP16_uc011acm.2_Intron|USP16_uc011acn.2_Intron NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA. 5 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 GGGAAAGAAACGGACAAAGGG 0.299000 14 3 0 0 0.004672 0 0 FKBP15 23307 broad.mit.edu 37 9 115973809 115973809 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:115973809G>A uc004bgs.2 - 1 270 c.117C>T c.(115-117)ttC>ttT p.F39F FKBP15_uc010muu.1_Silent_p.F103F|FKBP15_uc011lxd.1_Intron|FKBP15_uc010mut.1_5'UTR|FKBP15_uc004bgt.2_Silent_p.F39F NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 39 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTGTGTACTGGAAAAATTCAT 0.453000 12 5 0 0 0.001168 0 0 DOCK6 57572 broad.mit.edu 37 19 11333778 11333778 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:11333778A>G uc002mqs.4 - 24 3001 c.2960T>C c.(2959-2961)gTg>gCg p.V987A DOCK6_uc010xlq.2_Missense_Mutation_p.V326A NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 987 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GGCCAGCTCCACATCCTGGGG 0.627000 25 9 0 0 0.006214 0 0 DNAJC28 54943 broad.mit.edu 37 21 34860722 34860722 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:34860722G>A uc021wim.1 - 0 979 c.979C>T c.(979-981)Cat>Tat p.H327Y DNAJC28_uc002yrv.3_Missense_Mutation_p.H327Y|DNAJC28_uc002yrw.3_Missense_Mutation_p.H327Y NM_017833 NP_060303 Q9NX36 DJC28_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA. 327 LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 GCATCAAAATGGACTTTTTGC 0.338000 39 11 0 0 0.000978 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45457597 45457597 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:45457597C>T uc001rol.3 - 0 c.1598G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CCTGTAACATCGTCACTGGTT 0.498000 13 3 0 0 0.009096 0 0 MLL2 8085 broad.mit.edu 37 12 49425089 49425089 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:49425089G>A uc001rta.4 - 38 13399 c.13399C>T c.(13399-13401)Ctc>Ttc p.L4467F NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 4467 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TTTGCCCGGAGTAGCTTCTGC 0.627000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 35 18 0 0 0.008871 0 0 OR7G1 125962 broad.mit.edu 37 19 9225705 9225705 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9225705G>A uc021uoi.1 - 0 735 c.735C>T c.(733-735)ctC>ctT p.L245L OR7G1_uc002mks.1_Silent_p.L245L NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 AAAAAACAGAGAGGTGACAGC 0.428000 13 7 0 0 0.001984 0 0 CASR 846 broad.mit.edu 37 3 121980978 121980978 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:121980978G>A uc003eew.4 + 3 1534 c.1096G>A c.(1096-1098)Gga>Aga p.G366R CASR_uc003eev.4_Missense_Mutation_p.G366R NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 366 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) AGGTGCAAAAGGACCTTTACC 0.498000 29 6 0 0 0.003080 0 0 EYA2 2139 broad.mit.edu 37 20 45771711 45771711 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:45771711C>T uc002xsm.3 + 9 1276 c.902C>T c.(901-903)tCc>tTc p.S301F EYA2_uc010ghp.3_Missense_Mutation_p.S301F|EYA2_uc002xsq.3_Intron NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 301 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) ACCACGACGTCCGTGCGCATT 0.493000 24 16 0 0 0.004990 0 0 GML 2765 broad.mit.edu 37 8 143927901 143927901 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:143927901G>A uc003yxg.3 + 3 362 c.272G>A c.(271-273)gGa>gAa p.G91E NM_002066 NP_002057 Q99445 GML_HUMAN Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA. 91 UPAR/Ly6. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GAAGCCCCAGGAAAAATCTTC 0.388000 19 12 0 0 0.000978 0 0 COL9A1 1297 broad.mit.edu 37 6 70963122 70963122 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:70963122C>T uc003pfg.4 - 25 1889 c.1730G>A c.(1729-1731)gGa>gAa p.G577E COL9A1_uc003pfe.4_Missense_Mutation_p.G150E|COL9A1_uc003pff.4_Missense_Mutation_p.G334E NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 577 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACCAGGAATTCCAGGTACACC 0.368000 35 12 0 0 0.002450 0 0 RHD 6007 broad.mit.edu 37 1 25599183 25599183 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:25599183C>A uc009vro.3 + 0 203 c.145C>A c.(145-147)Caa>Aaa p.Q49K C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Missense_Mutation_p.Q49K|RHD_uc001bjz.3_Missense_Mutation_p.Q49K|RHD_uc001bkc.3_Missense_Mutation_p.Q49K|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Missense_Mutation_p.Q49K|RHD_uc001bkb.3_Missense_Mutation_p.Q49K|RHD_uc009vrn.3_Missense_Mutation_p.Q49K|RHD_uc009vrp.3_Missense_Mutation_p.Q49K Q02161 RHD_HUMAN Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA. 49 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCATCCTATCAAGGTGAGAG 0.522000 33 41 2.69774e-35 2.76532e-35 0.003610 1 0 ASAP3 55616 broad.mit.edu 37 1 23769057 23769057 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:23769057G>A uc001bha.2 - 5 646 c.522C>T c.(520-522)atC>atT p.I174I ASAP3_uc010odz.1_Silent_p.I43I|ASAP3_uc010oea.1_Silent_p.I165I|ASAP3_uc001bhc.1_Silent_p.I174I NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA. 174 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 CCTCCCCAGGGATCCCTCCTG 0.627000 31 8 0 0 0.003080 0 0 DACT1 51339 broad.mit.edu 37 14 59112095 59112095 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:59112095C>A uc001xdw.3 + 3 918 c.754C>A c.(754-756)Ccc>Acc p.P252T DACT1_uc010trv.2_5'UTR|DACT1_uc001xdx.3_Missense_Mutation_p.P215T|DACT1_uc010trw.2_5'UTR NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 252 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 AGATGTGAATCCCAAGTACCA 0.478000 38 30 9.78485e-24 1.00232e-23 0.002836 1 0 AFAP1L2 84632 broad.mit.edu 37 10 116064521 116064521 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:116064521G>A uc001lbn.3 - 10 1542 c.1241C>T c.(1240-1242)tCc>tTc p.S414F AFAP1L2_uc001lbo.3_Missense_Mutation_p.S414F|AFAP1L2_uc010qse.2_Missense_Mutation_p.S467F|AFAP1L2_uc001lbp.3_Missense_Mutation_p.S442F|AFAP1L2_uc001lbr.1_Missense_Mutation_p.S414F|AFAP1L2_uc010qsd.2_5'UTR|AFAP1L2_uc001lbq.1_5'Flank NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA. 414 PH 2. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity p.Y413*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GATGCGGAAGGAGTAGAGGTG 0.682000 14 3 0 0 0.004672 0 0 ZHX1 11244 broad.mit.edu 37 8 124267362 124267362 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:124267362C>T uc003yqe.3 - 2 1435 c.825G>A c.(823-825)ttG>ttA p.L275L C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Silent_p.L275L|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Silent_p.L275L|ZHX1_uc022bak.1_Silent_p.L275L NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA. 275 Required for dimerization.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CTTTGGGAATCAAATTAGAAT 0.438000 56 38 0 0 0.004878 0 0 GRID2 2895 broad.mit.edu 37 4 94690535 94690535 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:94690535C>T uc011cdt.2 + 14 2793 c.2535C>T c.(2533-2535)tcC>tcT p.S845S GRID2_uc011cdu.2_Silent_p.S750S NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 845 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.S845C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTGTCCTCTCCTGCTTCATAG 0.493000 36 14 0 0 0.003163 0 0 OR5H6 79295 broad.mit.edu 37 3 97983875 97983875 + Silent SNP G A A rs146320551 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:97983875G>A uc003dsi.1 + 0 747 c.747G>A c.(745-747)ggG>ggA p.G249G NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G249G(2) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTATCAAAGGGATACGAAAAG 0.388000 25 5 0 0 0.001168 0 0 MYT1L 23040 broad.mit.edu 37 2 1926949 1926949 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:1926949C>T uc002qxe.3 - 9 1419 c.592G>A c.(592-594)Gat>Aat p.D198N MYT1L_uc002qxd.3_Missense_Mutation_p.D198N|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 198 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCAGTTCATCGTAATTGTCA 0.408000 10 11 0 0 0.000978 0 0 MRO 83876 broad.mit.edu 37 18 48326495 48326495 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:48326495G>A uc010dpa.3 - 5 795 c.646C>T c.(646-648)Caa>Taa p.Q216* MRO_uc010xdn.2_Nonsense_Mutation_p.Q150*|MRO_uc002lew.4_Nonsense_Mutation_p.Q202*|MRO_uc010dpb.3_Nonsense_Mutation_p.Q164*|MRO_uc010dpc.3_Nonsense_Mutation_p.Q150*|MRO_uc002lex.4_Nonsense_Mutation_p.Q202* NM_001127176 NP_001120648 Q9BYG7 MSTRO_HUMAN Homo sapiens maestro (MRO), transcript variant 4, mRNA. 202 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) GAACAGGCTTGAAATGTTGTT 0.393000 33 17 0 0 0.004007 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377421 125377421 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125377421C>T uc011lyy.2 + 0 405 c.405C>T c.(403-405)atC>atT p.I135I NM_012364 NP_036496 Q15612 OR1Q1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA. 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 ACACTATGATCCTGACTAGAA 0.473000 54 18 0 0 0.006122 0 0 ASCC3 10973 broad.mit.edu 37 6 101173462 101173462 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:101173462C>T uc003pqk.3 - 10 2184 c.1855G>A c.(1855-1857)Gat>Aat p.D619N ASCC3_uc011eai.1_Missense_Mutation_p.D521N|ASCC3_uc003pql.3_Missense_Mutation_p.D619N NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. 619 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GGTCCTCTATCTTCATGCAGC 0.378000 46 8 0 0 0.004482 0 0 OR6C3 254786 broad.mit.edu 37 12 55725759 55725759 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55725759A>G uc010spj.2 + 0 275 c.275A>G c.(274-276)aAc>aGc p.N92S NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 ATTTCCTATAACAACTGTGCA 0.413000 40 11 0 0 0.008291 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184698 72184698 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:72184698G>A uc002fcc.4 - 4 617 c.445C>T c.(445-447)Cac>Tac p.H149Y PMFBP1_uc002fcd.3_Missense_Mutation_p.H149Y|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.H4Y NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 149 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCTCGTTGTGATTTCCCATT 0.502000 230 19 0 0 0.003954 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428151 128428151 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:128428151C>T uc003ysf.3 + 0 295 c.40C>T c.(40-42)Cct>Tct p.P14S LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron NM_001159542 NP_001153014 Q06416 P5F1B_HUMAN Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA. 14 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 CTTCTCGCCCCCTCCAGGCGG 0.632000 1 4 0 0 0.009096 0 0 TAAR6 319100 broad.mit.edu 37 6 132891845 132891845 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:132891845G>A uc011eck.2 + 0 385 c.385G>A c.(385-387)Gac>Aac p.D129N NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA. 129 plasma membrane G-protein coupled receptor activity p.I128I(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CATCTCCATCGACAGGTACAT 0.483000 202 57 0 0 0.003610 0 0 VPS13B 157680 broad.mit.edu 37 8 100847491 100847491 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:100847491T>C uc003yiv.3 + 52 9867 c.9756T>C c.(9754-9756)agT>agC p.S3252S VPS13B_uc003yiw.3_Silent_p.S3227S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3252 protein transport p.P3251R(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGACCCTAGTCCTCGAGTAA 0.343000 21 7 0 0 0.003080 0 0 LOC494141 494141 broad.mit.edu 37 11 18231632 18231632 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:18231632G>A uc009yhh.3 + 1 c.656G>A LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA. AGGGACAACGGAAGCAATTTT 0.458000 15 9 0 0 0.004482 0 0 GABRE 2564 broad.mit.edu 37 X 151138709 151138709 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:151138709G>A uc004ffi.3 - 1 276 c.222C>T c.(220-222)atC>atT p.I74I GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 74 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TAGTGTTCAGGATGCGAGAGG 0.537000 22 33 0 0 0.003755 0 0 PRIC285 85441 broad.mit.edu 37 20 62192982 62192983 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:62192982_62192983GG>AA uc002yfm.2 - 12 7699_7700 c.6807_6808CC>TT c.(6805-6810)ccccgg>ccTTgg p.R2270W PRIC285_uc002yfl.1_Missense_Mutation_p.R1701W NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 2270 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding p.R2270Q(1)|p.R2270L(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CTCCCCTCCCGGGGGCTCTTCC 0.658000 60 31 0 0 0.004672 0 0 PADI3 51702 broad.mit.edu 37 1 17601233 17601233 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:17601233G>A uc001bai.3 + 10 1299 c.1259G>A c.(1258-1260)gGg>gAg p.G420E NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 420 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GTGGCCAATGGGAAAGAGTAC 0.607000 OREG0013148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 17 0 0 0.006122 0 0 NFS1 9054 broad.mit.edu 37 20 34257606 34257606 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:34257606G>A uc002xdw.2 - 13 1388 c.1311_splice c.e13-1 p.S437_splice CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|NFS1_uc002xdt.2_Splice_Site_p.S377_splice|NFS1_uc010zvl.2_Splice_Site_p.S386_splice|NFS1_uc010zvk.2_Splice_Site_p.S235_splice NM_021100 NP_066923 Q9Y697 NFS1_HUMAN Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 437 Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TCCCAGAGAGGGCTGCCAAAG 0.532000 54 16 0 0 0.006122 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130370521 130370521 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:130370521T>A uc003qbt.3 + 3 373 c.197T>A c.(196-198)gTa>gAa p.V66E L3MBTL3_uc003qbu.3_Missense_Mutation_p.V66E NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA. 66 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) ACTTGGATGGTACCAACTGCT 0.363000 17 5 0 0 0.001168 0 0 C9orf171 389799 broad.mit.edu 37 9 135413046 135413046 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:135413046G>A uc004cbn.3 + 4 739 c.691G>A c.(691-693)Gaa>Aaa p.E231K C9orf171_uc004cbo.3_Missense_Mutation_p.E195K NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA. 231 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 GTGGGTACAGGAACAAAAGGC 0.552000 65 22 0 0 0.002299 0 0 TRAM2 9697 broad.mit.edu 37 6 52372354 52372354 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:52372354A>G uc003paq.3 - 6 772 c.623T>C c.(622-624)tTa>tCa p.L208S EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_5'Flank NM_012288 NP_036420 Q15035 TRAM2_HUMAN Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA. 208 TLC. collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) CACTCACTTTAAGAGGTATGC 0.453000 29 25 0 0 0.004656 0 0 GLI1 2735 broad.mit.edu 37 12 57865553 57865553 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:57865553C>T uc001snx.3 + 11 3124 c.3030C>T c.(3028-3030)agC>agT p.S1010S GLI1_uc021qzi.1_Silent_p.S969S|GLI1_uc009zpq.3_Silent_p.S882S NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 1010 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CAAACCCCAGCTGTGGTCATC 0.587000 69 30 0 0 0.002096 0 0 FAM123B 139285 broad.mit.edu 37 X 63410232 63410232 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:63410232G>A uc022byb.1 - 0 2935 c.2935C>T c.(2935-2937)Cag>Tag p.Q979* FAM123B_uc004dvo.3_Nonsense_Mutation_p.Q979* NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 979 Pro-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 CTGTCCAACTGGTTGGGGCTT 0.562000 6 7 0 0 0.001984 0 0 DNAH5 1767 broad.mit.edu 37 5 13751222 13751222 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13751222G>A uc003jfd.2 - 64 11218 c.11176C>T c.(11176-11178)Cag>Tag p.Q3726* DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3726 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCAGTAACTGATCTTCTAGA 0.453000 Kartagener syndrome 42 15 0 0 0.003163 0 0 STAB2 55576 broad.mit.edu 37 12 104155081 104155081 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:104155081G>A uc001tjw.3 + 65 7438 c.7252G>A c.(7252-7254)Gag>Aag p.E2418K STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 2418 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.T2417T(1)|p.T2417M(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCCCTAGACGGAGACCAGGTT 0.517000 50 20 0 0 0.002780 0 0 COL7A1 1294 broad.mit.edu 37 3 48618556 48618556 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:48618556G>A uc003ctz.2 - 52 4936 c.4935_splice c.e52+1 p.P1645_splice COL7A1_uc021wxp.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1645 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGTCTCACCGGAGGACCCTC 0.557000 10 5 0 0 0.000602 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631753 101631753 + Missense_Mutation SNP C T T rs138439271 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:101631753C>T uc003knm.3 - 0 501 c.214G>A c.(214-216)Gaa>Aaa p.E72K NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 72 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.E72K(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGCTTCTCTTCGGAGACATTG 0.582000 35 15 0 0 0.004990 0 0 CNTN4 152330 broad.mit.edu 37 3 2928860 2928860 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:2928860G>A uc003bpc.3 + 9 1231 c.892G>A c.(892-894)Gaa>Aaa p.E298K CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.E298K|CNTN4_uc003bpd.1_Missense_Mutation_p.E298K NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 298 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATGTGTAGCTGAAAATTCCAG 0.378000 16 4 0 0 0.000602 0 0 THOC5 8563 broad.mit.edu 37 22 29940511 29940511 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:29940511G>A uc003afr.3 - 3 513 c.178C>T c.(178-180)Cag>Tag p.Q60* THOC5_uc003afs.3_Nonsense_Mutation_p.Q60*|THOC5_uc003aft.3_Nonsense_Mutation_p.Q60*|THOC5_uc003afu.3_Nonsense_Mutation_p.Q60*|THOC5_uc003afv.1_Nonsense_Mutation_p.Q60*|THOC5_uc003afw.1_5'Flank NM_001002878 NP_003669 Q13769 THOC5_HUMAN Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA. 60 Interaction with CSF1R (By similarity).|Interaction with THOC7. RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton RNA binding|protein binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGTAGCTCCTGGCAGGTGTAC 0.542000 65 40 0 0 0.006230 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853576 12853576 + Missense_Mutation SNP G A A rs1063759 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12853576G>A uc001auj.2 + 1 303 c.200G>A c.(199-201)gGa>gAa p.G67E NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 67 p.L66Q(1)|p.L66M(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCTCTGGGATCACTGATG 0.542000 89 38 0 0 0.002852 0 0 SALL2 6297 broad.mit.edu 37 14 21993173 21993173 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:21993173C>T uc001wbe.3 - 1 971 c.689G>A c.(688-690)gGg>gAg p.G230E SALL2_uc010tly.2_Missense_Mutation_p.G228E|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA. 230 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGAGGCAGTCCCTGTCCCAGG 0.592000 29 12 0 0 0.001368 0 0 CD300LG 146894 broad.mit.edu 37 17 41939181 41939181 + Missense_Mutation SNP G A A rs147587037 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:41939181G>A uc002iem.3 + 6 970 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA. 301 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GGAGGAAAAGGAAGCCCCTTC 0.602000 15 19 0 0 0.001882 0 0 MYH2 4620 broad.mit.edu 37 17 10447105 10447105 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10447105G>A uc010coi.3 - 7 792 c.664C>T c.(664-666)Caa>Taa p.Q222* AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.Q222*|MYH2_uc010coj.3_Nonsense_Mutation_p.Q222* NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 222 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGATGATTTGATCTTCCAGA 0.522000 30 12 0 0 0.001368 0 0 PCDH1 5097 broad.mit.edu 37 5 141243015 141243015 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:141243015C>T uc003llp.3 - 2 2998 c.2881G>A c.(2881-2883)Ggc>Agc p.G961S PCDH1_uc011dbf.2_Missense_Mutation_p.G939S|PCDH1_uc003llq.3_Missense_Mutation_p.G961S NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 961 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCAGGGCTGCCTGGTGGGTAG 0.637000 16 7 0 0 0.003080 0 0 ECE1 1889 broad.mit.edu 37 1 21551882 21551882 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:21551882G>A uc001bek.2 - 16 1976 c.1901C>T c.(1900-1902)tCc>tTc p.S634F ECE1_uc001bem.2_Missense_Mutation_p.S618F|ECE1_uc001bej.2_Missense_Mutation_p.S622F|ECE1_uc001bei.2_Missense_Mutation_p.S631F|ECE1_uc010odl.1_Missense_Mutation_p.S634F NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 634 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GGCCTCCACGGATGAGTTCTT 0.627000 18 8 0 0 0.008291 0 0 OR4D9 390199 broad.mit.edu 37 11 59282701 59282701 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:59282701C>T uc010rkv.2 + 0 316 c.316C>T c.(316-318)Ctt>Ttt p.L106F NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA. 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L106F(2) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CTTCTTCCACCTTCTGGGGGG 0.478000 48 19 0 0 0.007413 0 0 RP1L1 94137 broad.mit.edu 37 8 10470524 10470524 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:10470524C>T uc003wtc.3 - 3 1313 c.1084G>A c.(1084-1086)Gta>Ata p.V362I NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 362 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGGGGTCTACCTCCCCCAGA 0.682000 34 27 0 0 0.005443 0 0 KIAA0317 9870 broad.mit.edu 37 14 75139651 75139651 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:75139651G>A uc001xqb.3 - 10 1810 c.1305C>T c.(1303-1305)ggC>ggT p.G435G KIAA0317_uc010tut.1_Silent_p.G274G NM_001039479 NP_001034568 O15033 K0317_HUMAN Homo sapiens KIAA0317 (KIAA0317), mRNA. 435 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.00404) AGGTCTCAGAGCCTCCTGGGG 0.512000 24 18 0 0 0.008871 0 0 SSH2 85464 broad.mit.edu 37 17 27998981 27998981 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:27998981G>A uc002heo.1 - 7 700 c.700C>T c.(700-702)Ccc>Tcc p.P234S SSH2_uc010wbh.1_Missense_Mutation_p.P261S|SSH2_uc002hep.1_Missense_Mutation_p.P234S NM_033389 NP_203747 Q76I76 SSH2_HUMAN Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA. 234 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGAGAGTCGGGCCGGTGGGAC 0.443000 85 33 0 0 0.003755 0 0 DNAH7 56171 broad.mit.edu 37 2 196891521 196891521 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:196891521C>T uc002utj.4 - 6 731 c.630G>A c.(628-630)atG>atA p.M210I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 210 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATCCTCTCTCATTTCATCAG 0.328000 15 3 0 0 0.009096 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870544 140870544 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140870544C>T uc003lla.2 + 0 1737 c.1737C>T c.(1735-1737)ctC>ctT p.L579L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.L579L NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA. 579 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAGCGTCTCCCTCGCTCTG 0.587000 28 7 0 0 0.004482 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829107 96829107 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:96829107G>A uc001kkb.3 - 0 148 c.53C>T c.(52-54)tCa>tTa p.S18L CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 18 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TCTCCAGAGTGAAAAGAGAAG 0.458000 11 9 0 0 0.008291 0 0 EYA4 2070 broad.mit.edu 37 6 133789771 133789771 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:133789771G>A uc011ecs.2 + 10 1188 c.872G>A c.(871-873)gGa>gAa p.G291E EYA4_uc011ecq.2_Missense_Mutation_p.G237E|EYA4_uc011ecr.2_Missense_Mutation_p.G237E|EYA4_uc003qec.4_Missense_Mutation_p.G291E|EYA4_uc003qed.4_Missense_Mutation_p.G291E|EYA4_uc003qee.4_Missense_Mutation_p.G268E|BC041459_uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 291 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCAACGTATGGAGCGTATATG 0.428000 68 21 0 0 0.010504 0 0 BC067347 0 broad.mit.edu 37 17 20744483 20744483 + RNA SNP A G G rs9906250 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:20744483A>G uc010crb.2 + 0 c.143A>G Homo sapiens cDNA clone IMAGE:6269068, partial cds. GCCTGAGCCCAAGCCGGGGCC 0.751000 13 8 0 0 0.006214 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111595649 111595649 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:111595649C>T uc003kpv.1 - 7 944 c.670G>A c.(670-672)Gga>Aga p.G224R NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA. 224 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GGAGTTAATCCTAAGAAATAC 0.358000 25 9 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 9063963 9063963 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9063963G>A uc002mkp.3 - 2 23687 c.23483C>T c.(23482-23484)tCc>tTc p.S7828F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7830 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S7828Y(3)|p.S3461Y(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGGTCAGGGAGGAAGCTAG 0.542000 49 21 0 0 0.001882 0 0 DOCK1 1793 broad.mit.edu 37 10 128830008 128830008 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:128830008C>T uc010qun.2 + 16 1783 c.1719C>T c.(1717-1719)atC>atT p.I573I DOCK1_uc001ljt.3_Silent_p.I552I NM_001380 NP_001371 Q14185 DOCK1_HUMAN Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA. 552 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ACGATCTTATCGTCTATAAGG 0.438000 32 21 0 0 0.002780 0 0 MYH2 4620 broad.mit.edu 37 17 10436665 10436665 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10436665C>T uc010coi.3 - 20 2506 c.2378G>A c.(2377-2379)cGa>cAa p.R793Q AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R793Q|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 793 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GGCCTGGGTTCGGGTAATCAG 0.473000 40 16 0 0 0.007413 0 0 OR6T1 219874 broad.mit.edu 37 11 123814015 123814015 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:123814015G>A uc010sab.2 - 0 531 c.531C>T c.(529-531)ttC>ttT p.F177F NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGTCACGAAAGAAGTGGTCAA 0.562000 31 27 0 0 0.006320 0 0 GPR139 124274 broad.mit.edu 37 16 20043675 20043675 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20043675G>A uc002dgu.1 - 1 606 c.444C>T c.(442-444)gtC>gtT p.V148V GPR139_uc010vaw.1_Silent_p.V55V NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 148 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CACTTACAATGACTTTCCGGG 0.512000 74 31 0 0 0.002096 0 0 GPD1 2819 broad.mit.edu 37 12 50501442 50501442 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:50501442G>A uc001rvz.3 + 5 738 c.705G>A c.(703-705)atG>atA p.M235I GPD1_uc001rwa.3_Missense_Mutation_p.M212I NM_005276 NP_005267 P21695 GPDA_HUMAN Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA. 235 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) TCATGGAGATGATAGCCTTCG 0.587000 107 38 0 0 0.004878 0 0 FAM75D1 389763 broad.mit.edu 37 9 84606491 84606491 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:84606491C>T uc004amn.3 + 3 1153 c.1106C>T c.(1105-1107)tCt>tTt p.S369F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 369 integral to membrane p.S368S(1) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TCTTTTTCCTCTAATTTTGTG 0.483000 39 11 0 0 0.008291 0 0 OXSR1 9943 broad.mit.edu 37 3 38289197 38289197 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38289197C>T uc003chy.3 + 13 1638 c.1296C>T c.(1294-1296)atC>atT p.I432I OXSR1_uc010hhb.3_Silent_p.I366I NM_005109 NP_005100 O95747 OXSR1_HUMAN Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA. 432 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAACCAAGATCCCAATCAGTC 0.368000 18 7 0 0 0.003080 0 0 GLMN 11146 broad.mit.edu 37 1 92713505 92713505 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:92713505G>A uc001dor.3 - 16 1630 c.1515C>T c.(1513-1515)ttC>ttT p.F505F GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Silent_p.F491F NM_053274 NP_444504 Q92990 GLMN_HUMAN Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA. 505 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) GTGGCTTTAAGAAATTATTCT 0.289000 Multiple Glomus Tumors (of the Skin), Familial 37 7 0 0 0.008291 0 0 MMP27 64066 broad.mit.edu 37 11 102565806 102565806 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:102565806C>T uc001phd.1 - 6 948 c.925G>A c.(925-927)Gat>Aat p.D309N NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 309 Hemopexin-like 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TCCGTGATATCATAATAGATC 0.403000 34 11 0 0 0.000978 0 0 PADI3 51702 broad.mit.edu 37 1 17601191 17601191 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:17601191C>T uc001bai.3 + 10 1257 c.1217C>T c.(1216-1218)tCc>tTc p.S406F NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 406 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGCCTGGACTCCTTTGGGAAC 0.607000 OREG0013148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 11 0 0 0.000978 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655883 138655883 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:138655883G>A uc003qhu.3 + 32 6071 c.5900G>A c.(5899-5901)aGc>aAc p.S1967N NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 1967 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GATGACAGAAGCCAGTCCCGG 0.642000 11 4 0 0 0.009096 0 0 KCNK10 54207 broad.mit.edu 37 14 88693840 88693840 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:88693840A>G uc001xwm.3 - 3 682 c.560T>C c.(559-561)aTc>aCc p.I187T KCNK10_uc001xwn.3_Missense_Mutation_p.I187T|KCNK10_uc001xwo.3_Missense_Mutation_p.I182T NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 182 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AATACAAAAGATTTTGCCTCC 0.408000 48 21 0 0 0.002780 0 0 CSMD2 114784 broad.mit.edu 37 1 34015943 34015943 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:34015943G>A uc001bxm.1 - 55 8928 c.8751C>T c.(8749-8751)tcC>tcT p.S2917S CSMD2_uc001bxn.1_Silent_p.S2773S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2892 Sushi 21. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GATGGCCACAGGACACCACTG 0.562000 33 10 0 0 0.006214 0 0 UCK1 83549 broad.mit.edu 37 9 134404656 134404656 + Splice_Site SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:134404656A>G uc004cay.3 - 4 467 c.366_splice c.e4-1 p.R122_splice UCK1_uc010mzk.3_Splice_Site_p.R113_splice|UCK1_uc004cba.3_Splice_Site_p.R122_splice|UCK1_uc004caz.3_Splice_Site NM_031432 NP_113620 Q9HA47 UCK1_HUMAN Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA. 122 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) GTCTCTGGTAACCTGAGGGGC 0.602000 27 6 0 0 0.001168 0 0 PEG3 5178 broad.mit.edu 37 19 57293392 57293392 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:57293392G>A uc002qnr.2 - 8 957 c.575C>T c.(574-576)tCc>tTc p.S192F BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc010etp.2_Missense_Mutation_p.S192F|PEG3_uc010ygs.1_Missense_Mutation_p.S192F|PEG3_uc002qnq.2_Missense_Mutation_p.S192F NM_015363 NP_056178 Q9GZU2 PEG3_HUMAN Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA. 334 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P191H(1) 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) AGCACTAAGGGAACTAAGTTC 0.502000 53 26 0 0 0.005443 0 0 DNAH5 1767 broad.mit.edu 37 5 13928256 13928256 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13928256C>T uc003jfd.2 - 2 266 c.224G>A c.(223-225)gGa>gAa p.G75E DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 75 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGAGACCTCCAACAGCAAA 0.338000 Kartagener syndrome 42 11 0 0 0.001855 0 0 EPHB2 2048 broad.mit.edu 37 1 23111538 23111538 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:23111538C>T uc009vqj.1 + 2 925 c.780C>T c.(778-780)ttC>ttT p.F260F EPHB2_uc001bge.3_Silent_p.F260F|EPHB2_uc001bgf.3_Silent_p.F260F|EPHB2_uc010odu.2_Silent_p.F260F NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 260 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AAGCAGGCTTCGAGGCCGTTG 0.617000 63 18 0 0 0.006122 0 0 NT5M 56953 broad.mit.edu 37 17 17207002 17207002 + Silent SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:17207002G>C uc002grf.3 + 0 323 c.138G>C c.(136-138)ctG>ctC p.L46L NT5M_uc002grg.3_Silent_p.L46L NM_020201 NP_064586 Q9NPB1 NT5M_HUMAN Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA. 46 DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix 5'-nucleotidase activity|metal ion binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 ACGGCGTGCTGGCTGACTTCG 0.756000 18 8 0 0 0.008291 0 0 USP7 7874 broad.mit.edu 37 16 8995974 8995974 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:8995974G>A uc002czl.2 - 17 2211 c.2012C>T c.(2011-2013)gCt>gTt p.A671V USP7_uc010uyk.1_Missense_Mutation_p.A572V|USP7_uc010uyj.1_Missense_Mutation_p.A572V|USP7_uc002czk.2_Missense_Mutation_p.A655V|USP7_uc010uyl.1_Non-coding_Transcript NM_003470 NP_003461 Q93009 UBP7_HUMAN Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA. 671 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process PML body|cytoplasm cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CGCTCCACTAGCAGCCAGCTC 0.458000 46 16 0 0 0.007413 0 0 LAMA2 3908 broad.mit.edu 37 6 129833584 129833584 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:129833584G>A uc021zfb.1 + 62 9039 c.8934G>A c.(8932-8934)ctG>ctA p.L2978L LAMA2_uc003qbn.3_Silent_p.L2976L|LAMA2_uc003qbo.3_Silent_p.L2972L|BC035400_uc003qbq.3_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 2978 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.L2978L(2) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGTTCTTCTGGGGATCAGTA 0.358000 67 25 0 0 0.003954 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430968 37430968 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:37430968G>A uc021ppc.1 + 6 1074 c.975G>A c.(973-975)agG>agA p.R325R ANKRD30A_uc001iza.1_Silent_p.R325R NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 381 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAAGACCTAGGAAGATCGCAT 0.428000 42 26 0 0 0.004656 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249718 140249718 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140249718G>A uc003lia.2 + 0 1888 c.1030G>A c.(1030-1032)Gat>Aat p.D344N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.D344N NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 360 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACACCAACGATAACTCTCC 0.512000 40 11 0 0 0.002450 0 0 CPAMD8 27151 broad.mit.edu 37 19 17013605 17013605 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:17013605C>T uc002nfb.3 - 34 4712 c.4680G>A c.(4678-4680)caG>caA p.Q1560Q CPAMD8_uc002nfd.1_Silent_p.Q25Q NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1513 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTCAGGCTCCTGGAGGCTTA 0.657000 70 37 0 0 0.006230 0 0 LRP1B 53353 broad.mit.edu 37 2 141641501 141641501 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:141641501T>A uc002tvj.1 - 24 5026 c.4054A>T c.(4054-4056)Ata>Tta p.I1352L LRP1B_uc010fnl.1_Missense_Mutation_p.I534L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1352 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGCTGTCTATCCAGTATATG 0.493000 TSP Lung(27;0.18) 65 27 0 0 0.007291 0 0 OR51I1 390063 broad.mit.edu 37 11 5462652 5462652 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5462652C>T uc010qze.2 - 0 132 c.93G>A c.(91-93)ctG>ctA p.L31L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCAGAAAATCAGGGCAACCC 0.537000 49 17 0 0 0.004990 0 0 APCS 325 broad.mit.edu 37 1 159558454 159558454 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:159558454G>A uc001ftv.3 + 1 724 c.628G>A c.(628-630)Gaa>Aaa p.E210K NM_001639 NP_001630 P02743 SAMP_HUMAN Homo sapiens amyloid P component, serum (APCS), mRNA. 210 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TCTGAACTATGAAATCAGAGG 0.488000 45 11 0 0 0.002450 0 0 OR1L6 392390 broad.mit.edu 37 9 125512364 125512364 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125512364C>T uc022bna.1 + 0 238 c.238C>T c.(238-240)Cct>Tct p.P80S NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 AGTCATAGTGCCTAAGATGCT 0.468000 37 23 0 0 0.003330 0 0 PHGDH 26227 broad.mit.edu 37 1 120277300 120277300 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:120277300C>T uc001ehz.3 + 5 781 c.554C>T c.(553-555)tCc>tTc p.S185F PHGDH_uc009whl.3_Missense_Mutation_p.S87F|PHGDH_uc009whm.3_Missense_Mutation_p.S83F|PHGDH_uc001eib.3_Missense_Mutation_p.S151F NM_006623 NP_006614 O43175 SERA_HUMAN Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA. 185 L-serine biosynthetic process|brain development NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) GTCTCGGCCTCCTTTGGTGTT 0.507000 675 230 0 0 0.003610 0 0 SEC14L3 266629 broad.mit.edu 37 22 30857339 30857339 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:30857339C>T uc003ahy.3 - 10 1128 c.1039G>A c.(1039-1041)Gtg>Atg p.V347M SEC14L3_uc003ahz.3_Missense_Mutation_p.V270M|SEC14L3_uc003aia.3_Missense_Mutation_p.V288M|SEC14L3_uc003aib.3_Missense_Mutation_p.V288M NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 347 GOLD. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TCCTCGGGCACCATGTGGGCG 0.607000 59 19 0 0 0.007413 0 0 KDM8 79831 broad.mit.edu 37 16 27221559 27221559 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:27221559G>A uc010vcn.1 + 1 347 c.229G>A c.(229-231)Gag>Aag p.E77K KDM8_uc010bxv.2_Missense_Mutation_p.E39K|KDM8_uc002doh.2_Missense_Mutation_p.E39K|KDM8_uc010bxw.2_Missense_Mutation_p.E39K NM_001145348 NP_079049 Q8N371 KDM8_HUMAN Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA. 39 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GGACCTCGGGGAGAAAGTGGA 0.612000 23 18 0 0 0.006122 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140810551 140810551 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140810551C>T uc003lkt.2 + 0 394 c.225C>T c.(223-225)ttC>ttT p.F75F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.F75F NM_003735 NP_003726 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA. 75 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCTTTTCGCCCTGAATC 0.632000 57 28 0 0 0.007291 0 0 HAS1 3036 broad.mit.edu 37 19 52217175 52217175 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:52217175G>A uc002pxn.1 - 3 1276 c.1263C>T c.(1261-1263)ttC>ttT p.F421F HAS1_uc010epc.1_Silent_p.F14F|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Silent_p.F414F|HAS1_uc002pxp.1_Silent_p.F413F NM_001523 NP_001514 Q92839 HAS1_HUMAN Homo sapiens hyaluronan synthase 1 (HAS1), mRNA. 414 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding p.L420L(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGGCCGCCACGAAGAAGGGGA 0.672000 22 6 0 0 0.006214 0 0 HYDIN 54768 broad.mit.edu 37 16 71098709 71098709 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:71098709C>T uc002ezr.3 - 15 2261 c.2110G>A c.(2110-2112)Gag>Aag p.E704K HYDIN_uc010cfz.2_Missense_Mutation_p.E449K|HYDIN_uc021tkq.1_Missense_Mutation_p.E704K|HYDIN_uc010vmc.2_Missense_Mutation_p.E721K|HYDIN_uc010vmd.2_Missense_Mutation_p.E731K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 704 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AAGTCCACCTCTGTATTGACC 0.502000 32 28 0 0 0.007291 0 0 MAPT 4137 broad.mit.edu 37 17 44060998 44060998 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:44060998C>T uc002ijr.4 + 5 1150 c.828C>T c.(826-828)tcC>tcT p.S276S MAPT_uc010dau.3_Silent_p.S276S|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.S124S NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 276 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CCAAAGTTTCCACAGAGATCC 0.642000 55 7 0 0 0.006214 0 0 VPS13A 23230 broad.mit.edu 37 9 79890467 79890467 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:79890467C>T uc004akr.3 + 24 2826 c.2566C>T c.(2566-2568)Cag>Tag p.Q856* VPS13A_uc004akp.4_Nonsense_Mutation_p.Q856*|VPS13A_uc004akq.4_Nonsense_Mutation_p.Q856*|VPS13A_uc004aks.3_Nonsense_Mutation_p.Q856* NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 856 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGAACCTCTTCAGTTTCCAAC 0.313000 53 31 0 0 0.003271 0 0 ADCY5 111 broad.mit.edu 37 3 123019094 123019094 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:123019094G>A uc003egh.2 - 14 2773 c.2773C>T c.(2773-2775)Ctg>Ttg p.L925L ADCY5_uc021xdd.1_Silent_p.L575L|ADCY5_uc003egg.2_Silent_p.L558L|ADCY5_uc003egi.1_Silent_p.L484L NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 925 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CTGATCTGCAGGAACACGGAG 0.642000 27 7 0 0 0.004482 0 0 STAB2 55576 broad.mit.edu 37 12 104048356 104048356 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:104048356C>T uc001tjw.3 + 12 1617 c.1431C>T c.(1429-1431)ctC>ctT p.L477L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 477 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGCTTAAACTCCATGGAGGCA 0.403000 24 6 0 0 0.001984 0 0 LEMD2 221496 broad.mit.edu 37 6 33752165 33752165 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:33752165G>A uc011drm.2 - 2 830 c.817C>T c.(817-819)Ctg>Ttg p.L273L LEMD2_uc011drl.2_5'UTR NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA. 273 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 AGTTCATGCAGCAGCTCCAGC 0.572000 45 17 0 0 0.004990 0 0 ADAM7 8756 broad.mit.edu 37 8 24299996 24299996 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:24299996C>T uc003xeb.3 + 1 176 c.63C>T c.(61-63)atC>atT p.I21I ADAM7_uc003xea.1_Silent_p.I21I NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 21 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AAAAGTTCATCCTTGGAGTAG 0.408000 86 28 0 0 0.008361 0 0 LUZP2 338645 broad.mit.edu 37 11 24936055 24936055 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:24936055C>T uc001mqs.3 + 6 767 c.493C>T c.(493-495)Cgt>Tgt p.R165C LUZP2_uc009yif.3_Missense_Mutation_p.R79C|LUZP2_uc009yig.3_Intron NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA. 165 Leucine-zipper. extracellular region p.R165H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GAAGGAGCTTCGTTATGGGAA 0.318000 17 7 0 0 0.004482 0 0 CASP9 842 broad.mit.edu 37 1 15819453 15819453 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:15819453G>A uc001awn.3 - 8 1481 c.1236C>T c.(1234-1236)ttC>ttT p.F412F CASP9_uc001awm.2_3'UTR|CASP9_uc001awo.3_Silent_p.F262F|CASP9_uc001awp.3_Silent_p.F256F|CASP9_uc009voi.3_Silent_p.F256F|CASP9_uc010obm.2_Silent_p.F329F NM_001229 NP_127463 P55211 CASP9_HUMAN Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA. 412 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) ATGTTTTAAAGAAAAGTTTTT 0.483000 63 34 0 0 0.004878 0 0 CPXM2 119587 broad.mit.edu 37 10 125530537 125530537 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:125530537C>T uc001lhk.1 - 7 1322 c.997G>A c.(997-999)Gaa>Aaa p.E333K CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 333 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGACACATTTCATTCACAACT 0.433000 71 55 0 0 0.003610 0 0 NKAIN2 154215 broad.mit.edu 37 6 125112496 125112496 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:125112496C>T uc003pzo.3 + 4 763 c.486C>T c.(484-486)ttC>ttT p.F162F NKAIN2_uc010keq.3_Silent_p.F95F|NKAIN2_uc003pzp.3_Silent_p.F161F|NKAIN2_uc010ker.3_Silent_p.F72F NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA. 162 integral to membrane|plasma membrane p.G161V(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TGGCAGGTTTCATCTACGCCT 0.403000 25 10 0 0 0.008291 0 0 ABCA3 21 broad.mit.edu 37 16 2376160 2376160 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:2376160T>A uc002cpy.1 - 4 882 c.170A>T c.(169-171)tAc>tTc p.Y57F ABCA3_uc010bsk.1_Missense_Mutation_p.Y57F|ABCA3_uc010bsl.1_Missense_Mutation_p.Y57F|ABCA3_uc002cpz.1_Missense_Mutation_p.Y57F NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 57 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTGGCCCGGGTAGATGGTGGC 0.577000 31 20 0 0 0.002299 0 0 DUOX2 50506 broad.mit.edu 37 15 45399629 45399629 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:45399629C>T uc001zun.3 - 13 1810 c.1607G>A c.(1606-1608)cGa>cAa p.R536Q DUOX2_uc010bea.3_Missense_Mutation_p.R536Q NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 536 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGTGGTATTTCGGATGTCTTC 0.557000 51 23 0 0 0.002299 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160273928 160273928 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:160273928G>A uc003iqg.4 + 20 3784 c.3474G>A c.(3472-3474)tcG>tcA p.S1158S NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA. 1158 Ser-rich. MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TTAGCAATTCGTCTTTTGACT 0.483000 28 15 0 0 0.004990 0 0 FMN2 56776 broad.mit.edu 37 1 240286540 240286540 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:240286540G>A uc010pye.2 + 1 1902 c.1677G>A c.(1675-1677)gaG>gaA p.E559E FMN2_uc010pyd.2_Silent_p.E559E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 559 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.E702E(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGAAGCAGAGAAGTTTTGCT 0.522000 38 17 0 0 0.004990 0 0 ABLIM3 22885 broad.mit.edu 37 5 148630942 148630942 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:148630942C>T uc003lpy.2 + 20 2060 c.1809C>T c.(1807-1809)ttC>ttT p.F603F ABLIM3_uc003lpz.1_Silent_p.F603F|ABLIM3_uc003lqa.1_Silent_p.F500F|ABLIM3_uc003lqb.3_Silent_p.F492F|ABLIM3_uc003lqc.1_Silent_p.F570F|ABLIM3_uc003lqd.1_Silent_p.F508F|ABLIM3_uc003lqe.1_Silent_p.F492F|ABLIM3_uc003lqf.3_Silent_p.F492F NM_014945 NP_055760 O94929 ABLM3_HUMAN Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA. 603 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACCTCTTCCACTACGACA 0.582000 16 12 0 0 0.002450 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454988 84454988 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:84454988C>T uc001vlk.3 - 0 1541 c.655G>A c.(655-657)Gat>Aat p.D219N NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 219 LRRCT 1. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAGAGCAGATCACAGGTGCAG 0.547000 27 9 0 0 0.004482 0 0 HTR1A 3350 broad.mit.edu 37 5 63257040 63257040 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:63257040G>A uc011cqt.2 - 0 507 c.507C>T c.(505-507)atC>atT p.I169I NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 169 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity p.S168F(1) cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCATGGGCGGGATAGAGATGA 0.612000 93 44 0 0 0.003610 0 0 MYOM3 127294 broad.mit.edu 37 1 24417428 24417428 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:24417428G>A uc001bin.4 - 11 1454 c.1291C>T c.(1291-1293)Cgg>Tgg p.R431W MYOM3_uc001bim.4_Missense_Mutation_p.R88W|MYOM3_uc001bio.3_Missense_Mutation_p.R431W|MYOM3_uc001bip.1_Missense_Mutation_p.R88W NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 431 Fibronectin type-III 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ATTGGGCACCGACAAGTCCCT 0.642000 55 14 0 0 0.008871 0 0 NOX3 50508 broad.mit.edu 37 6 155732367 155732367 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:155732367G>A uc003qqm.3 - 10 1539 c.1436C>T c.(1435-1437)aCc>aTc p.T479I NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN Homo sapiens NADPH oxidase 3 (NOX3), mRNA. 479 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) ATCCCAGCCGGTAAGAAATAT 0.398000 25 8 0 0 0.003080 0 0 SCN10A 6336 broad.mit.edu 37 3 38751002 38751002 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38751002G>A uc003ciq.3 - 23 4248 c.4248C>T c.(4246-4248)gtC>gtT p.V1416V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1416 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) TGTCAATTATGACCCCAACAA 0.408000 31 8 0 0 0.004482 0 0 POM121L12 285877 broad.mit.edu 37 7 53103667 53103667 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:53103667C>T uc003tpz.3 + 0 319 c.303C>T c.(301-303)gcC>gcT p.A101A NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 101 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGCGCCCTGCCCTTCCCGGGG 0.726000 22 8 0 0 0.003080 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517495 158517495 + Missense_Mutation SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:158517495G>C uc010pil.2 - 0 401 c.401C>G c.(400-402)cCa>cGa p.P134R NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA. 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GTAGCGTAGTGGATTACAAAT 0.468000 22 10 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179579150 179579150 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179579150C>T uc021vsy.1 - 87 22844 c.22619G>A c.(22618-22620)tGg>tAg p.W7540* TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.W4201* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8467 Ig-like 57. 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) ATAAGAAATCCATATGTTGTC 0.408000 26 12 0 0 0.001368 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11864800 11864800 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:11864800G>A uc002dbk.3 - 8 1145 c.947C>T c.(946-948)tCt>tTt p.S316F ZC3H7A_uc002dbl.3_Missense_Mutation_p.S316F|ZC3H7A_uc002dbm.2_Intron NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA. 316 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CATGCTAGGAGAGACACTGGC 0.483000 53 23 0 0 0.003330 0 0 TRERF1 55809 broad.mit.edu 37 6 42236163 42236163 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:42236163G>A uc003ose.2 - 4 1729 c.1166C>T c.(1165-1167)cCc>cTc p.P389L TRERF1_uc011duq.1_Missense_Mutation_p.P389L|TRERF1_uc003osb.2_Missense_Mutation_p.P228L|TRERF1_uc003osc.2_Missense_Mutation_p.P228L|TRERF1_uc003osd.2_Missense_Mutation_p.P389L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 389 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGTAGAGGGGGTGGCTGTA 0.612000 118 35 0 0 0.003755 0 0 MDGA2 161357 broad.mit.edu 37 14 47566138 47566138 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:47566138C>T uc001wwj.4 - 5 1272 c.1114G>A c.(1114-1116)Gat>Aat p.D372N MDGA2_uc001wwi.4_Missense_Mutation_p.D74N|MDGA2_uc010ani.3_5'UTR NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 303 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CCAGCATCATCTGAGGTGATG 0.458000 43 17 0 0 0.008871 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169087 32169087 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32169087C>T uc003obb.3 - 21 4085 c.3946G>A c.(3946-3948)Gcc>Acc p.A1316T NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1316 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGCACCCGGGCCAGGGCAAAC 0.647000 241 70 0 0 0.003610 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12941848 12941848 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12941848C>T uc001aun.2 - 2 773 c.702G>A c.(700-702)agG>agA p.R234R NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 234 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTGAAGATTCCTCATGTGGC 0.488000 202 96 0 0 0.003610 0 0 ASAH2 56624 broad.mit.edu 37 10 51974535 51974535 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:51974535C>T uc001jjd.3 - 7 1108 c.1108G>A c.(1108-1110)Gat>Aat p.D370N ASAH2_uc009xos.3_Missense_Mutation_p.D370N NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA. 370 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 TTGGCGTTATCACAGGACTCT 0.418000 8 3 0 0 0.003080 0 0 EPPK1 83481 broad.mit.edu 37 8 144940269 144940269 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:144940269C>T uc003zaa.1 - 0 7166 c.7153G>A c.(7153-7155)Ggc>Agc p.G2385S NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2385 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGAAGAAGCCCTTGGTGTCG 0.647000 351 11 0 0 0.000978 0 0 FUT9 10690 broad.mit.edu 37 6 96651677 96651677 + Missense_Mutation SNP C T T rs146949446 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:96651677C>T uc003pop.4 + 2 987 c.646C>T c.(646-648)Cat>Tat p.H216Y FUT9_uc021zcw.1_Missense_Mutation_p.H216Y NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 216 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CATTGAAATCCATACCTACGG 0.373000 27 10 0 0 0.006214 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229160 8229160 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8229160G>A uc003gkv.4 + 11 1840 c.1739G>A c.(1738-1740)cGg>cAg p.R580Q SH3TC1_uc003gkw.4_Missense_Mutation_p.R504Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 580 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TCCCAGGCCCGGGTGTACTTT 0.667000 67 24 0 0 0.004656 0 0 RSPO2 340419 broad.mit.edu 37 8 108970434 108970434 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:108970434C>T uc003yms.3 - 4 1148 c.490G>A c.(490-492)Gga>Aga p.G164R RSPO2_uc003ymq.3_Missense_Mutation_p.G97R|RSPO2_uc003ymr.3_Missense_Mutation_p.G100R NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN Homo sapiens R-spondin 2 (RSPO2), mRNA. 164 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CATTTAAATCCACATGTGCGA 0.388000 34 10 0 0 0.008291 0 0 APOBR 55911 broad.mit.edu 37 16 28509501 28509501 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:28509501C>T uc002dqb.2 + 2 3088 c.3055C>T c.(3055-3057)Cgg>Tgg p.R1019W NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R548W NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 1010 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CTCTTTTCGTCGGACTCCGGC 0.682000 4 7 0 0 0.001984 0 0 MEP1A 4224 broad.mit.edu 37 6 46794105 46794105 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46794105C>T uc011dwh.1 + 7 885 c.877C>T c.(877-879)Ctt>Ttt p.L293F MEP1A_uc010jzh.1_Missense_Mutation_p.L265F|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.L165F NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 265 MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.Q292Q(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AACTCACACTCTTTTGGACCA 0.418000 45 13 0 0 0.001855 0 0 OR4K1 79544 broad.mit.edu 37 14 20404300 20404300 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20404300C>T uc001vwj.2 + 0 534 c.475C>T c.(475-477)Cac>Tac p.H159Y NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTCTGTGAGCCACTTGGCTTT 0.478000 44 17 0 0 0.004990 0 0 ADI1 55256 broad.mit.edu 37 2 3504598 3504598 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:3504598G>A uc002qxp.4 - 2 499 c.407C>T c.(406-408)aCg>aTg p.T136M ADI1_uc010yiq.2_Non-coding_Transcript NM_018269 NP_060739 Q9BV57 MTND_HUMAN Homo sapiens acireductone dioxygenase 1 (ADI1), mRNA. 136 L-methionine salvage from methylthioadenosine cytoplasm|nucleus|plasma membrane acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) CTCGTCCACCGTGAAGCGGTG 0.637000 21 9 0 0 0.004482 0 0 TMEM59L 25789 broad.mit.edu 37 19 18726820 18726820 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:18726820C>T uc010ebu.1 + 3 531 c.444C>T c.(442-444)tcC>tcT p.S148S TMEM59L_uc002njy.4_Silent_p.S148S NM_012109 NP_036241 Q9UK28 TM59L_HUMAN Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA. 148 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GGGCCCTCTCCCTCTTGGACT 0.507000 66 24 0 0 0.003330 0 0 BTBD7 55727 broad.mit.edu 37 14 93720013 93720013 + Missense_Mutation SNP G A A rs143914698 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:93720013G>A uc001ybo.3 - 6 2058 c.1732C>T c.(1732-1734)Ccc>Tcc p.P578S BTBD7_uc010aur.3_Missense_Mutation_p.P103S|BTBD7_uc010two.2_Missense_Mutation_p.P398S|BTBD7_uc001ybp.3_Missense_Mutation_p.P227S NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 578 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TCCACATAGGGAGAGAAGAGT 0.398000 44 9 0 0 0.006214 0 0 NUP214 8021 broad.mit.edu 37 9 134011373 134011373 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:134011373C>T uc004cag.3 + 8 1096 c.985C>T c.(985-987)Ctt>Ttt p.L329F NUP214_uc004cah.3_Missense_Mutation_p.L329F|NUP214_uc004caf.1_Missense_Mutation_p.L329F NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 329 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGTTAGTATCCTTGCTCGACA 0.388000 T """DEK, SET, ABL1""" """AML, T-ALL""" 27 17 0 0 0.008871 0 0 LRRC16B 90668 broad.mit.edu 37 14 24525540 24525540 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:24525540G>A uc001wlj.2 + 10 960 c.803G>A c.(802-804)gGg>gAg p.G268E NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 268 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GGGGTGTTTGGGGAGAACGGG 0.622000 11 3 0 0 0.004672 0 0 FDXR 2232 broad.mit.edu 37 17 72860067 72860067 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72860067G>A uc010wrl.2 - 9 1341 c.1254C>T c.(1252-1254)tcC>tcT p.S418S FDXR_uc010wri.2_Silent_p.S323S|FDXR_uc010wrj.2_Silent_p.S373S|FDXR_uc002jlw.3_Silent_p.S132S|FDXR_uc002jlx.3_Silent_p.S381S|FDXR_uc002jly.3_Silent_p.S375S|FDXR_uc010wrk.2_Silent_p.S406S|FDXR_uc010wrm.2_Silent_p.S335S|FDXR_uc002jlz.3_Silent_p.S367S|FDXR_uc002jmb.3_Intron NM_024417 NP_077728 P22570 ADRO_HUMAN Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 375 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CCCCAAGCTTGGAGTCAAAGG 0.597000 93 25 0 0 0.004656 0 0 ATP10D 57205 broad.mit.edu 37 4 47514830 47514830 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:47514830A>G uc003gxk.1 + 1 437 c.273A>G c.(271-273)ttA>ttG p.L91L ATP10D_uc003gxj.3_Silent_p.L91L NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 91 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CAAGAAATTTATTTGAACAAT 0.318000 21 9 0 0 0.006214 0 0 USP47 55031 broad.mit.edu 37 11 11919184 11919184 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:11919184G>A uc001mjs.3 + 4 1300 c.537G>A c.(535-537)ttG>ttA p.L179L USP47_uc001mjq.1_Silent_p.L199L|USP47_uc001mjr.3_Silent_p.L111L NM_017944 NP_060414 Q96K76 UBP47_HUMAN Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA. 199 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex|cytoplasm WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) CTTGCTATTTGAATAGCCTTT 0.259000 41 19 0 0 0.001882 0 0 TFAP2C 7022 broad.mit.edu 37 20 55209280 55209280 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:55209280G>A uc002xya.3 + 4 1121 c.878G>A c.(877-879)aGg>aAg p.R293K TFAP2C_uc010zzi.2_Missense_Mutation_p.R124K NM_003222 NP_003213 Q92754 AP2C_HUMAN Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA. 293 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.G292G(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CCGGCCGGGAGGCGGAAAGCC 0.463000 25 13 0 0 0.001368 0 0 FAM47A 158724 broad.mit.edu 37 X 34149014 34149014 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:34149014G>A uc004ddg.3 - 0 1434 c.1382C>T c.(1381-1383)tCc>tTc p.S461F NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 461 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CCCACAAGGGGATTTATGAGG 0.582000 11 19 0 0 0.010504 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7987110 7987110 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:7987110A>G uc003mxx.4 + 0 776 c.341A>G c.(340-342)aAc>aGc p.N114S TXNDC5_uc003mxw.3_Intron Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA. GAAGGGAGCAACCTGACCCCT 0.527000 26 8 0 0 0.003080 0 0 PRRG3 79057 broad.mit.edu 37 X 150868549 150868549 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:150868549G>A uc022cgt.1 + 2 138 c.89G>A c.(88-90)gGc>gAc p.G30D PRRG3_uc004few.2_Missense_Mutation_p.G30D NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA. 30 Gla. extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) CTGCGCCAGGGCACCATCGAG 0.562000 7 16 0 0 0.004007 0 0 F5 2153 broad.mit.edu 37 1 169524446 169524446 + Silent SNP T G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:169524446T>G uc001ggg.1 - 6 1237 c.1092A>C c.(1090-1092)gcA>gcC p.A364A F5_uc010plr.1_Non-coding_Transcript NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 364 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.Y363Y(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTATTACAGGTGCATAGTCCC 0.458000 73 34 0 0 0.003755 0 0 NACA2 342538 broad.mit.edu 37 17 59668312 59668312 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:59668312C>T uc002izj.2 - 0 252 c.230G>A c.(229-231)cGg>cAg p.R77Q NM_199290 NP_954984 Q9H009 NACA2_HUMAN Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA. 77 NAC-A/B. protein transport cytoplasm|nucleus p.R77W(1) large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) CATAGCCTTCCGTGCCCTCTT 0.463000 94 78 0 0 0.003610 0 0 SH3BGR 6450 broad.mit.edu 37 21 40847107 40847107 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:40847107C>T uc002yya.3 + 2 521 c.467C>T c.(466-468)tCc>tTc p.S156F SH3BGR_uc002yxz.3_Missense_Mutation_p.S45F NM_007341 NP_001001713 P55822 SH3BG_HUMAN Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA. 156 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) ATTATTTATTCCTTCCTTGGT 0.373000 21 5 0 0 0.001168 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140175498 140175498 + Missense_Mutation SNP G A A rs17844246 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140175498G>A uc003lhd.2 + 0 1055 c.949G>A c.(949-951)Gag>Aag p.E317K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E317K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E317K NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 332 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGTCCTACGAGATTCAGGT 0.388000 20 8 0 0 0.004482 0 0 LAMC1 3915 broad.mit.edu 37 1 183083788 183083788 + Missense_Mutation SNP T G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:183083788T>G uc001gpy.4 + 4 1401 c.1144T>G c.(1144-1146)Tgc>Ggc p.C382G NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 382 Laminin EGF-like 2. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTGAGAGGTGCCGAGAGAA 0.522000 55 33 0 0 0.009535 0 0 KCNJ5 3762 broad.mit.edu 37 11 128786396 128786396 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:128786396T>C uc001qet.3 + 2 1344 c.1030T>C c.(1030-1032)Tat>Cat p.Y344H KCNJ5_uc009zck.3_Missense_Mutation_p.Y344H|KCNJ5_uc001qew.3_Missense_Mutation_p.Y344H NM_000890 NP_000881 P48544 IRK5_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA. 344 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) AAAGGGCTTCTATGAGGTGGA 0.562000 80 42 0 0 0.003610 0 0 EXD2 55218 broad.mit.edu 37 14 69704344 69704344 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:69704344G>A uc001xky.3 + 8 1591 c.1345G>A c.(1345-1347)Gac>Aac p.D449N EXD2_uc001xkt.3_Missense_Mutation_p.D324N|EXD2_uc001xkv.3_Missense_Mutation_p.D449N|EXD2_uc001xkw.3_Missense_Mutation_p.D324N|EXD2_uc001xku.3_Missense_Mutation_p.D194N|EXD2_uc001xkx.3_Missense_Mutation_p.D324N|EXD2_uc010aqt.3_Missense_Mutation_p.D449N|EXD2_uc010tte.2_Missense_Mutation_p.D449N NM_001193360 NP_060669 Q9NVH0 EXD2_HUMAN Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA. 324 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 CGAGATGAAGGACCACAACTC 0.532000 25 3 0 0 0.004672 0 0 GALNT8 26290 broad.mit.edu 37 12 4870183 4870183 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:4870183G>A uc001qne.1 + 6 1325 c.1233G>A c.(1231-1233)gaG>gaA p.E411E NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 411 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CCCACCTAGAGAGACACCACA 0.547000 33 19 0 0 0.008871 0 0 DCT 1638 broad.mit.edu 37 13 95092305 95092305 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:95092305C>T uc010afh.3 - 9 1933 c.1506G>A c.(1504-1506)tgG>tgA p.W502* DCT_uc001vlv.4_Nonsense_Mutation_p.W469* NM_001129889 NP_001123361 P40126 TYRP2_HUMAN Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA. 469 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity p.G501*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GAGTTGTGGGCCAACCTGGAG 0.408000 19 8 0 0 0.006214 0 0 GLRB 2743 broad.mit.edu 37 4 157999189 157999189 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:157999189T>C uc003ipj.2 + 1 215 c.13T>C c.(13-15)Ttg>Ctg p.L5L GLRB_uc021xtp.1_Silent_p.L5L|GLRB_uc021xtq.1_Silent_p.L5L NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 5 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GAAGTTTTTATTGACAACTGC 0.318000 10 7 0 0 0.001984 0 0 DNAH8 1769 broad.mit.edu 37 6 38897335 38897335 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38897335C>T uc021yzh.1 + 74 11276 c.11167C>T c.(11167-11169)Ctt>Ttt p.L3723F DNAH8_uc003ooe.2_Missense_Mutation_p.L3506F|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGAGGACAGCCTTTCCTTGGG 0.413000 74 23 0 0 0.006320 0 0 KIAA1244 57221 broad.mit.edu 37 6 138531086 138531086 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:138531086G>A uc003qhu.3 + 3 430 c.259G>A c.(259-261)Gat>Aat p.D87N NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 87 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.T86T(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CATGGAAACAGATTCTGATGA 0.488000 77 17 0 0 0.007413 0 0 GPR158 57512 broad.mit.edu 37 10 25684905 25684905 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:25684905C>T uc001isj.3 + 2 1134 c.1074C>T c.(1072-1074)ttC>ttT p.F358F NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 358 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AAGCAGGATTCTATCATCCTG 0.363000 15 13 0 0 0.006122 0 0 OR4C11 219429 broad.mit.edu 37 11 55371798 55371798 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55371798C>T uc010rii.2 - 0 77 c.52G>A c.(52-54)Gat>Aat p.D18N NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA. 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 CTCAAGGGATCCTGTGTTAAT 0.383000 12 17 0 0 0.004007 0 0 OR1D5 8386 broad.mit.edu 37 17 2966263 2966263 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:2966263G>A uc021tns.1 - 0 639 c.639C>T c.(637-639)ttC>ttT p.F213F NM_014566 NP_055381 P58170 OR1D5_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|lung(10) 11 ATGTGGTCATGAACCCTAAGG 0.493000 12 6 0 0 0.006214 0 0 CASP10 843 broad.mit.edu 37 2 202073798 202073798 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:202073798C>T uc002uxj.1 + 8 1346 c.928C>T c.(928-930)Ctg>Ttg p.L310L CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.L243L|CASP10_uc002uxk.1_Silent_p.L267L|CASP10_uc002uxl.2_Silent_p.L310L|CASP10_uc002uxm.2_Silent_p.L267L NM_032977 NP_116759 Q92851 CASPA_HUMAN Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA. 310 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 AACAGAGATCCTGAGTCATGT 0.378000 21 14 0 0 0.001855 0 0 A1CF 29974 broad.mit.edu 37 10 52601719 52601719 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:52601719C>T uc001jjj.3 - 4 456 c.268G>A c.(268-270)Gat>Aat p.D90N A1CF_uc010qho.2_Missense_Mutation_p.D98N|A1CF_uc010qhn.2_Missense_Mutation_p.D98N|A1CF_uc009xov.3_Missense_Mutation_p.D90N|A1CF_uc001jji.3_Missense_Mutation_p.D90N|A1CF_uc001jjh.3_Missense_Mutation_p.D98N|A1CF_uc001jjk.1_Missense_Mutation_p.D90N NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 90 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CCATTAAAATCCATCATCATT 0.289000 20 7 0 0 0.001984 0 0 CDH7 1005 broad.mit.edu 37 18 63477088 63477088 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:63477088T>C uc002lkb.3 + 2 785 c.359T>C c.(358-360)cTc>cCc p.L120P CDH7_uc002ljz.3_Missense_Mutation_p.L120P|CDH7_uc002lka.3_Missense_Mutation_p.L120P NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 120 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TACTACACGCTCCGAGCTCAA 0.493000 37 12 0 0 0.001368 0 0 abParts 0 broad.mit.edu 37 14 106610536 106610536 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106610536C>T uc021ser.1 - 1671 c.32035G>A Parts of antibodies, mostly variable regions. GAAAGTGAATCCAGAGGCTGC 0.577000 60 21 0 0 0.008871 0 0 ZNF597 146434 broad.mit.edu 37 16 3486612 3486612 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3486612G>A uc002cvd.3 - 3 1271 c.1087C>T c.(1087-1089)Cat>Tat p.H363Y NM_152457 NP_689670 Q96LX8 ZN597_HUMAN Homo sapiens zinc finger protein 597 (ZNF597), mRNA. 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 TCCTCTGTATGAATGTTCtga 0.448000 3 4 0 0 0.009096 0 0 XDH 7498 broad.mit.edu 37 2 31621561 31621561 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:31621561C>T uc002rnv.1 - 4 390 c.311G>A c.(310-312)aGa>aAa p.R104K NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 104 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTTGGCAATTCTCTCCTAAAA 0.557000 68 30 0 0 0.002445 0 0 CHCHD10 400916 broad.mit.edu 37 22 24108364 24108364 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:24108364G>A uc002zxw.3 - 2 440 c.360C>T c.(358-360)tcC>tcT p.S120S NM_213720 NP_998885 Q8WYQ3 CHC10_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10), mRNA. 120 CHCH. mitochondrion large_intestine(2)|lung(1) 3 CCTCACACAGGGACAGGTCAC 0.662000 15 4 0 0 0.000602 0 0 SGSM1 129049 broad.mit.edu 37 22 25251354 25251354 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:25251354C>T uc003abg.2 + 6 783 c.626C>T c.(625-627)tCc>tTc p.S209F SGSM1_uc010guu.1_Missense_Mutation_p.S209F|SGSM1_uc003abh.2_Missense_Mutation_p.S209F|SGSM1_uc003abj.2_Missense_Mutation_p.S209F|SGSM1_uc003abi.1_Missense_Mutation_p.S184F|SGSM1_uc003abf.2_Missense_Mutation_p.S209F NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 209 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 ATCCACAGCTCCCACGTGCGG 0.622000 15 7 0 0 0.001984 0 0 UGT2B11 10720 broad.mit.edu 37 4 70071286 70071286 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:70071286C>T uc003heh.3 - 4 1012 c.1003_splice c.e4-1 p.V335_splice AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 335 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCCACAGAACCTGTTACAGTA 0.398000 42 14 0 0 0.001855 0 0 SELP 6403 broad.mit.edu 37 1 169564075 169564075 + Silent SNP C T T rs138760541 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:169564075C>T uc001ggi.4 - 12 2207 c.2142G>A c.(2140-2142)gcG>gcA p.A714A SELP_uc001ggh.3_Silent_p.A549A|SELP_uc009wvr.3_Silent_p.A714A NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 714 Sushi 9. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AGCAGTTCATCGCTATTGGCT 0.408000 23 10 0 0 0.000978 0 0 OR52N4 390072 broad.mit.edu 37 11 5776591 5776591 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5776591G>A uc001mbu.3 + 0 669 c.621G>A c.(619-621)ctG>ctA p.L207L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTGCCCTCCTGATTTGGGGCT 0.488000 49 27 0 0 0.005443 0 0 FAT2 2196 broad.mit.edu 37 5 150922197 150922197 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:150922197G>A uc003lue.4 - 8 8504 c.8491C>T c.(8491-8493)Cag>Tag p.Q2831* NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2831 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGCTCACCTGGCCATCTCTC 0.517000 28 19 0 0 0.001882 0 0 SCN10A 6336 broad.mit.edu 37 3 38798279 38798279 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38798279G>A uc003ciq.3 - 8 1176 c.1176C>T c.(1174-1176)atC>atT p.I392I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 392 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) CTACAGCCAAGATCAAGTTGA 0.478000 69 19 0 0 0.007413 0 0 TRIM3 10612 broad.mit.edu 37 11 6472639 6472639 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6472639G>A uc001mdh.3 - 8 1959 c.1563C>T c.(1561-1563)ttC>ttT p.F521F TRIM3_uc001mdi.3_Silent_p.F521F|TRIM3_uc010raj.2_Silent_p.F402F|TRIM3_uc009yfd.3_Silent_p.F521F|TRIM3_uc010rak.1_Silent_p.F521F NM_006458 NP_006449 O75382 TRIM3_HUMAN Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA. 521 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCAAAACGGAACTTGAACT 0.582000 41 19 0 0 0.001882 0 0 RANGAP1 5905 broad.mit.edu 37 22 41660766 41660766 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:41660766C>T uc003azs.3 - 3 1852 c.382G>A c.(382-384)Ggt>Agt p.G128S RANGAP1_uc003azt.3_Missense_Mutation_p.G128S|RANGAP1_uc003azu.3_Missense_Mutation_p.G128S|RANGAP1_uc011aoz.2_Missense_Mutation_p.G118S NM_002883 NP_002874 P46060 RAGP1_HUMAN Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA. 128 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole Ran GTPase activator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTTGCACACCGTCGGGCCCG 0.602000 35 9 0 0 0.004482 0 0 ESPL1 9700 broad.mit.edu 37 12 53663155 53663155 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53663155G>A uc001sck.2 + 2 520 c.429G>A c.(427-429)gtG>gtA p.V143V ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 143 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 ATGAGGCCGTGGCTCGGGGCA 0.622000 40 20 0 0 0.010504 0 0 MCHR2 84539 broad.mit.edu 37 6 100369011 100369011 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:100369011C>T uc003pqh.1 - 5 1143 c.828G>A c.(826-828)caG>caA p.Q276Q MCHR2_uc003pqi.1_Silent_p.Q276Q NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 276 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GCTGTTCCATCTGTAAGTTCA 0.473000 46 17 0 0 0.004990 0 0 CFHR5 81494 broad.mit.edu 37 1 196967416 196967416 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196967416C>T uc001gts.4 + 6 1257 c.1129C>T c.(1129-1131)Cct>Tct p.P377S NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 377 Sushi 6. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GAAATGGAATCCTGAAGTAGA 0.308000 11 6 0 0 0.004482 0 0 NOD1 10392 broad.mit.edu 37 7 30494798 30494798 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:30494798G>A uc003tav.3 - 4 854 c.331C>T c.(331-333)Cct>Tct p.P111S NOD1_uc010kvs.2_Missense_Mutation_p.P111S NM_006092 NP_006083 Q9Y239 NOD1_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA. 111 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AGCAGGGAAGGGGAGAAGCCG 0.617000 39 13 0 0 0.002450 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918948 12918948 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12918948G>A uc001aum.1 + 1 171 c.84G>A c.(82-84)atG>atA p.M28I NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 28 p.M28K(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTGCCATGGAGGAGCTGC 0.607000 63 33 0 0 0.002445 0 0 OR51E2 81285 broad.mit.edu 37 11 4703151 4703151 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:4703151C>T uc001lzk.2 - 1 1035 c.791G>A c.(790-792)gGa>gAa p.G264E OR51E2_uc021qcr.1_Missense_Mutation_p.G264E NM_030774 NP_110401 Q9H255 O51E2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGGCTGTTTCCAAAGCGGTG 0.517000 30 18 0 0 0.004990 0 0 ADCK2 90956 broad.mit.edu 37 7 140389516 140389516 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:140389516C>T uc003vvy.1 + 5 1855 c.1677C>T c.(1675-1677)acC>acT p.T559T ADCK2_uc003vvz.3_Silent_p.T559T NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 559 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) ACACCATCACCCTGGAGAAGG 0.607000 17 7 0 0 0.001984 0 0 HTR2C 3358 broad.mit.edu 37 X 114141390 114141390 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:114141390C>T uc004epu.1 + 5 1517 c.789C>T c.(787-789)ttC>ttT p.F263F HTR2C_uc010nqc.1_Silent_p.F263F|HTR2C_uc004epv.1_Missense_Mutation_p.P232S NM_000868 NP_000859 P28335 5HT2C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA. 263 ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GTCTGGATTTCCTGAAGTGCT 0.522000 22 40 0 0 0.006230 0 0 CSMD1 64478 broad.mit.edu 37 8 3200886 3200886 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:3200886G>A uc022aqr.1 - 22 3951 c.3561C>T c.(3559-3561)tcC>tcT p.S1187S CSMD1_uc011kwj.2_Silent_p.S580S|CSMD1_uc003wqe.3_Silent_p.S344S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1188 CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACAGGTGATTGGATGTGCTGT 0.428000 29 15 0 0 0.003163 0 0 IGHG1 3500 broad.mit.edu 37 14 106208017 106208017 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106208017C>T uc001yse.3 - 4 830 c.384G>A c.(382-384)gtG>gtA p.V128V abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron RecName: Full=Ig gamma-1 chain C region; TCTCCCACTCCACGGCGATGT 0.612000 121 49 0 0 0.003610 0 0 C6orf170 221322 broad.mit.edu 37 6 121615761 121615761 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:121615761T>C uc003pyo.1 - 10 1254 c.1186A>G c.(1186-1188)Aag>Gag p.K396E C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_5'Flank NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 396 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) TTCCTAGTCTTACACATTTCA 0.318000 92 31 0 0 0.003755 0 0 MRPS31 10240 broad.mit.edu 37 13 41345346 41345346 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:41345346C>T uc001uxm.4 - 1 1 c.-74_splice c.e1-1 NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) CCCGCCCTCTCTTCCGCTTCC 0.637000 10 4 0 0 0.009096 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54676174 54676174 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:54676174G>A uc003dhf.3 + 10 1121 c.1073G>A c.(1072-1074)gGa>gAa p.G358E CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G264E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G92E|ESRG_uc003dhj.3_5'Flank NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 358 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACGGGACAAGGAAGTATCTGC 0.408000 15 8 0 0 0.004482 0 0 STARD13 90627 broad.mit.edu 37 13 33704280 33704280 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:33704280C>T uc001uuw.3 - 4 660 c.534G>A c.(532-534)agG>agA p.R178R STARD13_uc001uuu.3_Silent_p.R170R|STARD13_uc001uuv.3_Silent_p.R60R|STARD13_uc001uux.3_Silent_p.R143R|STARD13_uc010abh.1_Silent_p.R163R|STARD13_uc021rhz.1_Silent_p.R170R|STARD13_uc021ria.1_Silent_p.R60R NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 178 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TGGTCGTGTTCCTCATCCCCG 0.607000 19 9 0 0 0.006214 0 0 COL11A2 1302 broad.mit.edu 37 6 33143458 33143458 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:33143458C>T uc003ocx.1 - 30 2497 c.2269_splice c.e30-1 p.G757_splice COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Splice_Site_p.G671_splice|COL11A2_uc003ocz.1_Splice_Site_p.G650_splice NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 757 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCAACTTCGCCCTGTGTGAGA 0.652000 46 11 0 0 0.001368 0 0 OR2K2 26248 broad.mit.edu 37 9 114090048 114090048 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:114090048G>A uc011lwp.2 - 0 666 c.666C>T c.(664-666)tcC>tcT p.S222S NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TCAGAATAGTGGAAAGGATGA 0.453000 17 7 0 0 0.003080 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993481 140993481 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:140993481G>A uc004fbt.3 + 3 615 c.291G>A c.(289-291)caG>caA p.Q97Q MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 97 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCTCCAGAATTCTCAGA 0.572000 HNSCC(15;0.026) 15 42 0 0 0.008740 0 0 DSCAM 1826 broad.mit.edu 37 21 41414529 41414529 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:41414529C>T uc002yyq.1 - 31 5907 c.5455G>A c.(5455-5457)Gaa>Aaa p.E1819K DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1819 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTGGCGTGTTCGTAGGCCCTG 0.527000 38 19 0 0 0.007413 0 0 ASTN2 23245 broad.mit.edu 37 9 119738420 119738420 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:119738420C>T uc004bjt.2 - 7 1672 c.1571G>A c.(1570-1572)gGg>gAg p.G524E ASTN2_uc022bml.1_Missense_Mutation_p.G224E|ASTN2_uc022bmm.1_Missense_Mutation_p.G224E NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 575 EGF-like 1. 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 GGCTTGCTCCCCTGTCACCAG 0.498000 44 15 0 0 0.010504 0 0 RP1L1 94137 broad.mit.edu 37 8 10467708 10467708 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:10467708C>T uc003wtc.3 - 3 4129 c.3900G>A c.(3898-3900)gaG>gaA p.E1300E NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1300 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTAATTGCACCTCTTCTTGCA 0.498000 50 17 0 0 0.007413 0 0 NWD1 284434 broad.mit.edu 37 19 16860798 16860798 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16860798C>T uc002neu.4 + 5 1767 c.1345C>T c.(1345-1347)Cgg>Tgg p.R449W NWD1_uc002net.4_Missense_Mutation_p.R314W|NWD1_uc002nev.4_Missense_Mutation_p.R243W|NWD1_uc021uqg.1_Missense_Mutation_p.R314W NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 449 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCGCCATGCTCGGAGGGTTCC 0.597000 63 20 0 0 0.002299 0 0 DSG4 147409 broad.mit.edu 37 18 28970666 28970666 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:28970666C>T uc002kwr.2 + 5 700 c.565C>T c.(565-567)Cat>Tat p.H189Y DSG4_uc002kwq.2_Missense_Mutation_p.H189Y NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 189 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGAAGAAAATCATCTGAATTC 0.408000 22 14 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9005617 9005617 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9005617G>A uc002mkp.3 - 45 39993 c.39789C>T c.(39787-39789)acC>acT p.T13263T MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.T80T|MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13265 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGCTGTGGGTCAGCTGGC 0.562000 84 34 0 0 0.003755 0 0 FLG2 388698 broad.mit.edu 37 1 152329303 152329303 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152329303C>T uc001ezw.4 - 2 1032 c.959G>A c.(958-960)gGa>gAa p.G320E AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 320 Ser-rich. calcium ion binding|structural molecule activity p.S319*(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) TCCCTTAATTCCTGACTGACA 0.483000 64 28 0 0 0.005443 0 0 XIST 7503 broad.mit.edu 37 X 73053208 73053208 + Splice_Site SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:73053208T>A uc004ebm.1 - 3 c.11437_splice c.e3-1 Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GCTCAGAATGTCCTTAAGAAG 0.418000 12 16 0 0 0.002299 0 0 PROL1 58503 broad.mit.edu 37 4 71275418 71275418 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:71275418C>T uc003hfi.3 + 2 547 c.373C>T c.(373-375)Cct>Tct p.P125S NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 125 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCCCCATTTCCTCCTATTCC 0.413000 57 17 0 0 0.007413 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480243 140480243 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140480243G>A uc003lio.3 + 0 10 c.10G>A c.(10-12)Gga>Aga p.G4R BC016751_uc003lin.3_Non-coding_Transcript NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 4 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGGAGGCGGGAGGAGAGCG 0.522000 39 11 0 0 0.002450 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713205 138713205 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:138713205G>A uc004cgr.4 - 10 3302 c.3302C>T c.(3301-3303)tCc>tTc p.S1101F CAMSAP1_uc004cgq.4_Missense_Mutation_p.S991F|CAMSAP1_uc010nbg.3_Missense_Mutation_p.S823F NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA. 1101 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CGGCCTTCCGGAACGGGAATT 0.637000 43 14 0 0 0.001855 0 0 ADAM2 2515 broad.mit.edu 37 8 39691492 39691492 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:39691492C>T uc003xnj.3 - 2 234 c.159G>A c.(157-159)ggG>ggA p.G53G ADAM2_uc003xnk.3_Silent_p.G53G|ADAM2_uc011lck.2_Silent_p.G53G|ADAM2_uc003xnl.3_Silent_p.G53G NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 53 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.G53V(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TATATGGTTTCCCTTCAATTA 0.289000 18 5 0 0 0.000602 0 0 BIN2 51411 broad.mit.edu 37 12 51695836 51695836 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:51695836C>T uc001ryg.3 - 4 428 c.376G>A c.(376-378)Gaa>Aaa p.E126K BIN2_uc009zlz.3_Intron|BIN2_uc001ryh.3_Missense_Mutation_p.E2K|BIN2_uc010sng.2_Missense_Mutation_p.E100K NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 126 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 ACATAGATTTCCATGGTCCTT 0.458000 19 8 0 0 0.008291 0 0 AKR1B10 57016 broad.mit.edu 37 7 134217804 134217804 + Missense_Mutation SNP G A A rs148486050 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:134217804G>A uc003vrr.3 + 3 720 c.400G>A c.(400-402)Gga>Aga p.G134R NM_020299 NP_064695 O60218 AK1BA_HUMAN Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA. 134 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding p.G134R(2) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TGCCATCGGTGGAAAAGCAAC 0.453000 76 34 0 0 0.006999 0 0 MEP1A 4224 broad.mit.edu 37 6 46787402 46787402 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46787402G>A uc011dwh.1 + 5 609 c.601G>A c.(601-603)Gat>Aat p.D201N MEP1A_uc010jzh.1_Missense_Mutation_p.D173N|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.D73N NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 173 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GACGGACCGGGATGATTATGT 0.473000 154 43 0 0 0.003610 0 0 INPP5D 3635 broad.mit.edu 37 2 233944049 233944049 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:233944049C>T uc010zmo.2 + 1 292 c.139C>T c.(139-141)Cgg>Tgg p.R47W INPP5D_uc010zmp.2_Missense_Mutation_p.R47W NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 47 SH2. T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TTTCAGGTATCGGAATTGCGT 0.398000 14 7 0 0 0.003080 0 0 FGD3 89846 broad.mit.edu 37 9 95780429 95780429 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:95780429C>T uc004asz.2 + 10 1815 c.1287C>T c.(1285-1287)atC>atT p.I429I FGD3_uc004asw.2_Silent_p.I429I|FGD3_uc004asx.2_Silent_p.I429I|FGD3_uc004ata.3_Silent_p.I232I|FGD3_uc011luc.1_Silent_p.I32I NM_033086 NP_149077 Q5JSP0 FGD3_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA. 429 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TGCAGGATATCGTCAAGCCAA 0.463000 51 16 0 0 0.001882 0 0 CENPE 1062 broad.mit.edu 37 4 104079922 104079922 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:104079922C>T uc003hxb.1 - 22 2813 c.2723G>A c.(2722-2724)aGg>aAg p.R908K CENPE_uc003hxc.1_Missense_Mutation_p.R883K NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 908 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGTTTTCTCCCTTTCTACAGT 0.358000 18 9 0 0 0.006214 0 0 MXRA5 25878 broad.mit.edu 37 X 3241350 3241350 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:3241350C>T uc004crg.4 - 4 2533 c.2376G>A c.(2374-2376)ggG>ggA p.G792G NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 792 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGAGATTTTTCCCACGGACTT 0.453000 16 30 0 0 0.009535 0 0 ABCC6 368 broad.mit.edu 37 16 16267236 16267237 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:16267236_16267237CC>TT uc002den.4 - 20 2728_2729 c.2691_2692GG>AA c.(2689-2694)aaggac>aaAAac p.D898N ABCC6_uc010bvo.3_Non-coding_Transcript NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 898 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GTGGTACGGTCCTTCTCAGGGA 0.535000 45 9 0 0 0.004672 0 0 APBB2 323 broad.mit.edu 37 4 40936483 40936484 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:40936483_40936484GG>AA uc003gvn.3 - 9 1873_1874 c.1243_1244CC>TT c.(1243-1245)cca>TTa p.P415L APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Missense_Mutation_p.P414L|APBB2_uc003gvm.3_Missense_Mutation_p.P393L|APBB2_uc011byt.1_Missense_Mutation_p.P376L NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 414 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding p.P415P(1) central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CTTGGCTTCTGGGTCACTGTTG 0.381000 79 25 0 0 0.004672 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528560 65528560 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:65528560G>A uc003xvj.2 - 2 742 c.538C>T c.(538-540)Ctg>Ttg p.L180L NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 180 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AATGGATACAGTTCTGCCGTG 0.353000 24 14 0 0 0.003163 0 0 NPAS1 4861 broad.mit.edu 37 19 47548651 47548651 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:47548651G>A uc002pfw.3 + 11 1711 c.1515G>A c.(1513-1515)caG>caA p.Q505Q NPAS1_uc002pfy.3_Silent_p.Q505Q|NPAS1_uc010xyj.2_3'UTR NM_002517 NP_002508 Q99742 NPAS1_HUMAN Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA. 505 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) TCCTGAAGCAGGATCCGGTGC 0.731000 21 7 0 0 0.003080 0 0 OR4K13 390433 broad.mit.edu 37 14 20502263 20502263 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20502263C>T uc010tkz.2 - 0 655 c.655G>A c.(655-657)Gga>Aga p.G219R NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATTATGACTCCATAGGAGACA 0.493000 34 18 0 0 0.001882 0 0 BZW1 9689 broad.mit.edu 37 2 201681923 201681923 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:201681923C>T uc010zhg.2 + 5 668 c.593C>T c.(592-594)tCc>tTc p.S198F BZW1_uc002uwc.3_Missense_Mutation_p.S166F|BZW1_uc021vus.1_Missense_Mutation_p.S170F NM_001207068 NP_001193997 Q7L1Q6 BZW1_HUMAN Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA. 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 CTTAATGCATCCATTCTTAAT 0.413000 43 14 0 0 0.002450 0 0 ABCA12 26154 broad.mit.edu 37 2 215884434 215884434 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:215884434C>T uc002vew.3 - 11 1594 c.1374G>A c.(1372-1374)atG>atA p.M458I ABCA12_uc002vev.3_Missense_Mutation_p.M140I|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 458 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCCCAAAGCTCATATCAGAGA 0.463000 17 9 0 0 0.004482 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504398 151504398 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:151504398G>A uc003ilw.3 + 0 1322 c.217G>A c.(217-219)Gaa>Aaa p.E73K LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA. 73 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) TTCGCCCACCGAATTTGAGGT 0.607000 22 11 0 0 0.000978 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665287 6665287 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:6665287C>T uc002mfk.2 - 4 755 c.373G>A c.(373-375)Ggc>Agc p.G125S TNFSF14_uc002mfj.2_Missense_Mutation_p.G89S NM_003807 NP_003798 O43557 TNF14_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA. 125 T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 TAGCTGAGGCCCCTCAGGAAG 0.642000 18 8 0 0 0.003080 0 0 AK057473 0 broad.mit.edu 37 17 20805643 20805643 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:20805643G>A uc002gyg.1 + 3 c.827G>A AK057473_uc002gyh.1_Non-coding_Transcript Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210. AGACGACGACGAAGTCTCCCA 0.557000 31 12 0 0 0.001855 0 0 CACNA1S 779 broad.mit.edu 37 1 201047112 201047112 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:201047112C>T uc001gvv.3 - 10 1741 c.1514G>A c.(1513-1515)tGt>tAt p.C505Y NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 505 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GATACCGCTACACACCACGAA 0.577000 36 25 0 0 0.005443 0 0 THSD7B 80731 broad.mit.edu 37 2 138400061 138400061 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:138400061G>A uc002tva.1 + 19 3713 c.3713G>A c.(3712-3714)cGa>cAa p.R1238Q THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTTTAGGTCGAATGAGCCGG 0.478000 70 25 0 0 0.003954 0 0 FLT1 2321 broad.mit.edu 37 13 28877373 28877373 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:28877373C>T uc001usb.3 - 29 4233 c.3948G>A c.(3946-3948)agG>agA p.R1316R FLT1_uc010aap.2_Silent_p.R321R|FLT1_uc010aaq.2_Silent_p.R441R|FLT1_uc001usa.3_Silent_p.R534R NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 1316 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACGCGATTTTCCTTTCCAGCT 0.572000 35 21 0 0 0.002299 0 0 CRB2 286204 broad.mit.edu 37 9 126128238 126128238 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:126128238C>T uc004bnx.1 + 2 553 c.461C>T c.(460-462)cCc>cTc p.P154L CRB2_uc004bnw.1_Missense_Mutation_p.P154L NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 154 EGF-like 3; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GCCTCAGCGCCCTGCCTGCAC 0.701000 26 8 0 0 0.006214 0 0 immunoglobulin_heavy_chain 0 broad.mit.edu 37 14 107034960 107034960 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:107034960G>A uc001ysz.3 - 1 149 c.120C>T c.(118-120)tcC>tcT p.S40S abParts_uc021ser.1_Non-coding_Transcript Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene. AACCCTTACAGGAGATCTTCA 0.562000 10 6 0 0 0.001168 0 0 PIEZO2 63895 broad.mit.edu 37 18 10675266 10675266 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:10675266G>A uc002kos.2 - 49 7936 c.7762C>T c.(7762-7764)Cca>Tca p.P2588S PIEZO2_uc002koq.3_Missense_Mutation_p.P380S NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA. 2588 integral to membrane ion channel activity ACATAATATGGATAAATCTTT 0.274000 40 22 0 0 0.003330 0 0 AMN 81693 broad.mit.edu 37 14 103395162 103395162 + Silent SNP G A A rs141455061 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:103395162G>A uc001ymg.4 + 4 396 c.363G>A c.(361-363)ggG>ggA p.G121G AMN_uc001ymh.4_Silent_p.G67G NM_030943 NP_112205 Q9BXJ7 AMNLS_HUMAN Homo sapiens amnionless homolog (mouse) (AMN), mRNA. 121 lipid metabolic process|lipoprotein metabolic process|multicellular organismal development integral to membrane|plasma membrane kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCGCTCTGGGGACGAGGCAC 0.677000 22 8 0 0 0.004482 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734794 16734794 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:16734794G>A uc010vwr.1 - 2 781 c.339C>T c.(337-339)gcC>gcT p.A113A Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA. GGTCAGTCCTGGCCAGGGTCA 0.622000 23 3 0 0 0.004672 0 0 PCSK5 5125 broad.mit.edu 37 9 78947362 78947362 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:78947362G>A uc004akc.2 + 32 5041 c.4503G>A c.(4501-4503)gtG>gtA p.V1501V NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 671 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CAACCTGTGTGAAGGACTGCC 0.527000 32 9 0 0 0.006214 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400783 49400783 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:49400783C>T uc001jgi.3 - 15 2440 c.2109G>A c.(2107-2109)atG>atA p.M703I FRMPD2_uc001jgh.3_Missense_Mutation_p.M671I|FRMPD2_uc001jgj.3_Missense_Mutation_p.M672I NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 703 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TGAAGTTATCCATTGATGTAC 0.527000 40 13 0 0 0.002450 0 0 LILRP2 79166 broad.mit.edu 37 19 55221631 55221631 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55221631C>T uc002qgs.1 + 0 c.2031C>T LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GCATCCTGATCGCAGGTGAGG 0.677000 23 11 0 0 0.000978 0 0 USH2A 7399 broad.mit.edu 37 1 215847677 215847677 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:215847677G>A uc001hku.1 - 62 13963 c.13576C>T c.(13576-13578)Cga>Tga p.R4526* NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4526 Fibronectin type-III 30. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.D4525H(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGCTGGTTCGATCTTTGACA 0.517000 HNSCC(13;0.011) 59 26 0 0 0.004656 0 0 SCN10A 6336 broad.mit.edu 37 3 38798227 38798227 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38798227C>T uc003ciq.3 - 8 1228 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 410 sensory perception voltage-gated sodium channel complex p.E410Q(2)|p.D409Y(1) 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) GCTTCAATTTCATCAGTGGTT 0.498000 64 36 0 0 0.003271 0 0 ATG9B 285973 broad.mit.edu 37 7 150718281 150718281 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150718281G>A uc011kvc.2 - 4 1033 c.957C>T c.(955-957)atC>atT p.I319I ATG9B_uc003wig.4_Non-coding_Transcript NM_173681 NP_775952 Q674R7 ATG9B_HUMAN Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA. 319 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCACCGGGGGGATGTGCAGGG 0.617000 62 25 0 0 0.007291 0 0 DNAH5 1767 broad.mit.edu 37 5 13839615 13839615 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13839615G>A uc003jfd.2 - 34 5774 c.5732C>T c.(5731-5733)cCc>cTc p.P1911L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1911 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAGTCCATGGGACTCTTGAT 0.358000 Kartagener syndrome 28 17 0 0 0.006122 0 0 OR4X2 119764 broad.mit.edu 37 11 48267098 48267098 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:48267098C>T uc001ngs.1 + 0 443 c.443C>T c.(442-444)tCc>tTc p.S148F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TTCATGCATTCCTTTGCACAA 0.498000 75 33 0 0 0.003271 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790170 133790170 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:133790170G>A uc001qgx.4 - 17 3681 c.3450C>T c.(3448-3450)ccC>ccT p.P1150P NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 1150 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CAGCCGGCTCGGGGTAAGGCA 0.687000 48 24 0 0 0.003954 0 0 PARD3 56288 broad.mit.edu 37 10 34759085 34759085 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:34759085G>A uc010qej.2 - 3 840 c.510C>T c.(508-510)ccC>ccT p.P170P PARD3_uc010qep.2_Silent_p.P170P|PARD3_uc010qeq.2_Silent_p.P170P|PARD3_uc010qek.2_Silent_p.P170P|PARD3_uc010qel.2_Silent_p.P170P|PARD3_uc010qem.2_Silent_p.P170P|PARD3_uc010qen.2_Silent_p.P170P|PARD3_uc010qeo.2_Silent_p.P170P|PARD3_uc001ixr.2_Silent_p.P170P|PARD3_uc001ixq.2_Silent_p.P170P|PARD3_uc001ixp.2_Silent_p.P170P|PARD3_uc001ixt.1_Silent_p.P35P|PARD3_uc001ixu.2_Silent_p.P170P NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 170 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ACCAGCGTGTGGGATTTTTCC 0.493000 44 29 0 0 0.006320 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159781847 159781847 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:159781847C>T uc003lyd.3 - 1 311 c.307G>A c.(307-309)Gga>Aga p.G103R NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA. 58 Collagen-like. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCATTCGTCCCATCATTCCT 0.662000 10 6 0 0 0.001168 0 0 ZNF214 7761 broad.mit.edu 37 11 7021860 7021860 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:7021860G>A uc009yfh.1 - 2 1353 c.1054C>T c.(1054-1056)Cac>Tac p.H352Y ZNF214_uc001mfa.2_Missense_Mutation_p.H352Y|ZNF214_uc010ray.1_Missense_Mutation_p.H352Y NM_013249 NP_037381 Q9UL59 ZN214_HUMAN Homo sapiens zinc finger protein 214 (ZNF214), mRNA. 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTCCTATGTGAAGTCTCTGG 0.368000 33 6 0 0 0.001168 0 0 TNXB 7148 broad.mit.edu 37 6 32037995 32037995 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32037995G>A uc003nzl.2 - 13 5389 c.5187C>T c.(5185-5187)acC>acT p.T1729T NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1811 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CATCCAGAGGGGTGACAGTGA 0.632000 129 44 0 0 0.003610 0 0 CFH 3075 broad.mit.edu 37 1 196706689 196706689 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196706689G>A uc001gtj.4 + 16 2921 c.2681G>A c.(2680-2682)gGg>gAg p.G894E CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 894 Sushi 15. complement activation, alternative pathway extracellular space p.G894G(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TATGCACATGGGACTAAATTG 0.378000 20 9 0 0 0.006214 0 0 MAP3K5 4217 broad.mit.edu 37 6 136888793 136888793 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:136888793C>T uc003qhc.3 - 25 4098 c.3737G>A c.(3736-3738)gGa>gAa p.G1246E MAP3K5_uc011edj.2_Missense_Mutation_p.G493E|MAP3K5_uc011edk.1_Missense_Mutation_p.G1092E NM_005923 NP_005914 Q99683 M3K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA. 1246 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTTCATCCTTCCAAGCTGTAC 0.438000 17 5 0 0 0.001168 0 0 MON1A 84315 broad.mit.edu 37 3 49947860 49947860 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49947860G>A uc003cxz.3 - 3 1488 c.1362C>T c.(1360-1362)tcC>tcT p.S454S MON1A_uc003cya.3_Silent_p.S292S|MON1A_uc003cyb.2_Silent_p.S292S NM_032355 NP_115731 Q86VX9 MON1A_HUMAN Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA. 357 protein binding p.S454N(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCTCGCGAAAGGACGAGGAGG 0.602000 19 15 0 0 0.004007 0 0 ZFHX4 79776 broad.mit.edu 37 8 77620131 77620131 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:77620131G>A uc003yau.2 + 2 3328 c.2941G>A c.(2941-2943)Ggc>Agc p.G981S ZFHX4_uc003yat.1_Missense_Mutation_p.G955S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G955S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 955 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G980V(1) 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) TAAAGAAGGGGGCAAAAGCAA 0.428000 HNSCC(33;0.089) 49 11 0 0 0.001368 0 0 FRAS1 80144 broad.mit.edu 37 4 79373339 79373339 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:79373339C>T uc003hlb.2 + 46 7034 c.6594C>T c.(6592-6594)tcC>tcT p.S2198S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2197 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAGACAAATCCCCACCAGTCA 0.458000 36 9 0 0 0.006214 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481080 140481080 + Missense_Mutation SNP C T T rs17844390 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140481080C>T uc003lio.3 + 0 847 c.847C>T c.(847-849)Cat>Tat p.H283Y BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 283 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCATTTTTTCATGCTTCTGA 0.358000 31 8 0 0 0.006214 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16941845 16941845 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrY:16941845C>T uc011nas.1 + 5 1286 c.1107C>T c.(1105-1107)atC>atT p.I369I NLGN4Y_uc004fte.2_Silent_p.I181I|NLGN4Y_uc004ftg.2_Silent_p.I349I|NLGN4Y_uc004ftf.2_Silent_p.I42I|NLGN4Y_uc004fth.2_Silent_p.I349I NM_001206850 NP_001193779 Q8NFZ3 NLGNY_HUMAN Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA. 349 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 GCGACGTCATCCCAGACGACC 0.572000 8 15 0 0 0.002780 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68812211 68812211 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:68812211C>T uc003hdr.1 - 1 211 c.90G>A c.(88-90)gtG>gtA p.V30V LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Silent_p.V30V NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA. 30 cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TCACTGCCACCACTGTCAGGG 0.438000 18 12 0 0 0.000978 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143809 61143809 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:61143809C>T uc021wfy.1 - 0 c.74G>A C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds. GTGGTGAACTCCCCTCGTGCG 0.667000 84 23 0 0 0.002299 0 0 ENPP1 5167 broad.mit.edu 37 6 132189168 132189168 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:132189168C>T uc011ecf.2 + 11 1195 c.1175C>T c.(1174-1176)gCc>gTc p.A392V ENPP1_uc003qcy.3_Missense_Mutation_p.A22V NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 392 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GTCATCAAAGCCTTGCAGAGG 0.393000 60 22 0 0 0.005443 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3679916 3679916 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:3679916G>A uc002wja.3 - 6 1719 c.1719C>T c.(1717-1719)taC>taT p.Y573Y SIGLEC1_uc002wiz.4_Silent_p.Y573Y NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 573 Ig-like C2-type 5. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.Y573F(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CCCGGCAGTGGTATGAGCCGG 0.677000 10 8 0 0 0.004482 0 0 ACSM1 116285 broad.mit.edu 37 16 20673121 20673121 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20673121G>A uc002dhm.1 - 5 1055 c.987C>T c.(985-987)ttC>ttT p.F329F ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F329F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 329 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CATACCTGGTGAAATCCTGCT 0.388000 21 8 0 0 0.008291 0 0 ATN1 1822 broad.mit.edu 37 12 7047862 7047862 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:7047862C>T uc001qrw.1 + 6 2973 c.2736C>T c.(2734-2736)gaC>gaT p.D912D ATN1_uc001qrx.1_Silent_p.D912D NM_001007026 NP_001931 P54259 ATN1_HUMAN Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. 912 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GGGCAGTGGACCCGGGGCTCC 0.627000 86 30 0 0 0.007291 0 0 CXorf22 170063 broad.mit.edu 37 X 35988949 35988949 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:35988949G>A uc004ddj.3 + 10 1945 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 627 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TACTACATTTGAAAAACAGCA 0.289000 2 4 0 0 0.009096 0 0 SSPO 23145 broad.mit.edu 37 7 149497078 149497078 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:149497078C>T uc010lpk.3 + 47 7109 c.7109C>T c.(7108-7110)cCa>cTa p.P2370L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2373 cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTGTGACTCCAGCGACCCCT 0.617000 34 10 0 0 0.000978 0 0 FLNC 2318 broad.mit.edu 37 7 128484134 128484134 + Silent SNP G A A rs61737781 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:128484134G>A uc003vnz.4 + 19 3215 c.3006G>A c.(3004-3006)cgG>cgA p.R1002R FLNC_uc003voa.4_Silent_p.R1002R NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1002 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGGATGTGCGGATGACTTCGC 0.662000 22 12 0 0 0.000978 0 0 SERPINB11 89778 broad.mit.edu 37 18 61377503 61377503 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:61377503G>A uc002ljk.4 + 1 247 c.76G>A c.(76-78)Gat>Aat p.D26N SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Missense_Mutation_p.D26N NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 26 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CAACATAGGAGATAACATCTT 0.448000 18 6 0 0 0.001984 0 0 BARX2 8538 broad.mit.edu 37 11 129306737 129306737 + Silent SNP C T T rs149011396 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:129306737C>T uc001qfc.4 + 1 329 c.279C>T c.(277-279)atC>atT p.I93I NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN Homo sapiens BARX homeobox 2 (BARX2), mRNA. 93 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCCCGGGAATCGCCCAGGCAC 0.677000 53 22 0 0 0.002780 0 0 NLRP8 126205 broad.mit.edu 37 19 56466362 56466362 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56466362C>T uc002qmh.3 + 2 1009 c.938C>T c.(937-939)tCt>tTt p.S313F NLRP8_uc010etg.3_Missense_Mutation_p.S313F NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 313 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGCCTGGGTCTGTCCTACTG 0.507000 59 13 0 0 0.001855 0 0 LY9 4063 broad.mit.edu 37 1 160788098 160788098 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160788098G>A uc001fwu.3 + 5 1483 c.1433G>A c.(1432-1434)cGa>cAa p.R478Q LY9_uc001fwv.3_Missense_Mutation_p.R478Q|LY9_uc001fww.3_Missense_Mutation_p.R388Q|LY9_uc001fwy.1_Missense_Mutation_p.R290Q|LY9_uc001fwz.3_Missense_Mutation_p.R130Q NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 478 cell adhesion|immunoglobulin mediated immune response integral to membrane p.R478*(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATTTGGAAGCGAAAAGGACGG 0.522000 30 11 0 0 0.000978 0 0 MORC1 27136 broad.mit.edu 37 3 108780899 108780899 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:108780899G>A uc003dxl.3 - 10 989 c.902C>T c.(901-903)tCc>tTc p.S301F MORC1_uc011bhn.2_Missense_Mutation_p.S301F NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 301 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.E300*(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCAATATGGATTCAGCTGG 0.343000 30 17 0 0 0.004007 0 0 SDPR 8436 broad.mit.edu 37 2 192701092 192701092 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:192701092G>A uc002utb.3 - 1 1190 c.835C>T c.(835-837)Cac>Tac p.H279Y NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 279 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ATTTTCTGGTGATTTGACGTG 0.448000 99 40 0 0 0.009718 0 0 ABCC12 94160 broad.mit.edu 37 16 48175116 48175116 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:48175116C>T uc002efc.1 - 2 770 c.424G>A c.(424-426)Gtg>Atg p.V142M ABCC12_uc002eey.1_Splice_Site|ABCC12_uc002eez.1_Splice_Site|ABCC12_uc002efa.1_Splice_Site|ABCC12_uc002efb.1_Splice_Site|ABCC12_uc002efd.1_Splice_Site|ABCC12_uc002efe.1_Splice_Site_p.P141_splice|ABCC12_uc010vgj.1_Splice_Site NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 142 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GCCGCACTCACCGGCCCTATG 0.547000 18 8 0 0 0.004482 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043697 26043697 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:26043697C>T uc003nfu.3 - 0 189 c.189G>A c.(187-189)atG>atA p.M63I HIST1H3C_uc003nfv.3_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN Homo sapiens histone cluster 1, H2bb (HIST1H2BB), mRNA. 63 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CGAAGGAATTCATGATCCCCA 0.552000 130 33 0 0 0.002836 0 0 SPAM1 6677 broad.mit.edu 37 7 123593715 123593715 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:123593715C>T uc003vle.3 + 2 530 c.91C>T c.(91-93)Cca>Tca p.P31S SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P31S|SPAM1_uc022aks.1_Missense_Mutation_p.P31S|SPAM1_uc003vlf.4_Missense_Mutation_p.P31S|SPAM1_uc010lku.3_Missense_Mutation_p.P31S NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 31 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CCTTCTGATTCCATGTTGCTT 0.403000 18 9 0 0 0.006214 0 0 KL 9365 broad.mit.edu 37 13 33629241 33629241 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:33629241G>A uc001uus.3 + 2 1396 c.1388G>A c.(1387-1389)gGt>gAt p.G463D KL_uc001uur.1_Missense_Mutation_p.G156D NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 463 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CTCATGGATGGTTTCGAGTGG 0.517000 70 26 0 0 0.003954 0 0 ZNF230 7773 broad.mit.edu 37 19 44514741 44514741 + Missense_Mutation SNP C T T rs112504832 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:44514741C>T uc002oyb.1 + 4 801 c.550C>T c.(550-552)Cgt>Tgt p.R184C NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN Homo sapiens zinc finger protein 230 (ZNF230), mRNA. 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) CTCAGCTCTTCGTATTCACCA 0.448000 44 20 0 0 0.010504 0 0 KRT17 3872 broad.mit.edu 37 17 39776928 39776928 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:39776928C>T uc002hxh.2 - 5 1285 c.1164G>A c.(1162-1164)ctG>ctA p.L388L JUP_uc010wfs.2_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN Homo sapiens keratin 17 (KRT17), mRNA. 388 Coil 2.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Breast(137;0.000307) CCTCTCCCTCCAGCAGGCGGC 0.612000 39 11 0 0 0.001368 0 0 CCL8 6355 broad.mit.edu 37 17 32647872 32647872 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:32647872G>A uc002hib.3 + 2 701 c.246G>A c.(244-246)tgG>tgA p.W82* NM_005623 NP_005614 P80075 CCL8_HUMAN Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA. 82 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) AGGAGAGATGGGTCAGGGATT 0.478000 25 6 0 0 0.003080 0 0 C19orf75 284369 broad.mit.edu 37 19 51770669 51770669 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51770669G>A uc002pwb.1 + 4 834 c.453G>A c.(451-453)gcG>gcA p.A151A C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.A57A NM_173635 NP_775906 Q8N7X8 CS075_HUMAN Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA. 151 integral to membrane p.A151V(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1) 18 AAGCTGCAGCGATCAGAGCAA 0.468000 52 29 0 0 0.006320 0 0 BCMO1 53630 broad.mit.edu 37 16 81303970 81303970 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:81303970C>T uc002fgn.1 + 6 1268 c.1050C>T c.(1048-1050)ctC>ctT p.L350L BCMO1_uc010vnp.1_Silent_p.L281L NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 350 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ACTCCAGGCTCACCTCGGTCC 0.562000 27 18 0 0 0.008871 0 0 PTPRB 5787 broad.mit.edu 37 12 71003006 71003006 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:71003006G>A uc001swb.4 - 1 198 c.168C>T c.(166-168)ctC>ctT p.L56L PTPRB_uc010sto.2_Silent_p.L56L|PTPRB_uc010stp.2_Silent_p.L56L|PTPRB_uc001swc.4_Silent_p.L274L|PTPRB_uc001swa.4_Silent_p.L274L|PTPRB_uc001swd.4_Silent_p.L273L|PTPRB_uc009zrr.2_Silent_p.L153L|PTPRB_uc001swe.3_Silent_p.L274L NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 56 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCTATAGATGAGGCTAAAGT 0.512000 37 12 0 0 0.000978 0 0 GLI2 2736 broad.mit.edu 37 2 121685022 121685022 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:121685022T>A uc010flp.3 + 1 264 c.234T>A c.(232-234)caT>caA p.H78Q GLI2_uc010yyu.1_Missense_Mutation_p.H78Q|GLI2_uc002tmp.1_Missense_Mutation_p.H78Q|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.H78Q|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Missense_Mutation_p.H78Q NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 78 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) ACGAGCCTCATTCTGTCCACG 0.622000 74 28 0 0 0.007291 0 0 RYR3 6263 broad.mit.edu 37 15 34040321 34040321 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:34040321G>A uc001zhi.3 + 53 8066 c.7996G>A c.(7996-7998)Gaa>Aaa p.E2666K RYR3_uc010bar.3_Missense_Mutation_p.E2666K NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 2666 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTAGGAGAAGGAAATTTATCG 0.547000 20 27 0 0 0.008361 0 0 SCN2A 6326 broad.mit.edu 37 2 166245738 166245738 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166245738G>A uc002udc.3 + 26 5712 c.5422G>A c.(5422-5424)Gat>Aat p.D1808N SCN2A_uc002udd.3_Missense_Mutation_p.D1808N|SCN2A_uc002ude.3_Missense_Mutation_p.D1808N|SCN2A_uc021vry.1_Missense_Mutation_p.D308N NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1808 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTTTGATCCCGATGCGACCCA 0.458000 48 25 0 0 0.004656 0 0 BICD2 23299 broad.mit.edu 37 9 95480098 95480098 + Missense_Mutation SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:95480098G>C uc004asp.1 - 5 2296 c.2239C>G c.(2239-2241)Cgt>Ggt p.R747G BICD2_uc004aso.1_Missense_Mutation_p.R747G NM_001003800 NP_001003800 Q8TD16 BICD2_HUMAN Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA. 747 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 AACATAGCACGCAGCGAGGAG 0.577000 19 9 0 0 0.004482 0 0 GIMAP4 55303 broad.mit.edu 37 7 150270001 150270001 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150270001G>A uc003whl.3 + 2 925 c.843G>A c.(841-843)aaG>aaA p.K281K GIMAP4_uc011kuu.2_Silent_p.K142K|GIMAP4_uc011kuv.2_Silent_p.K295K NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 281 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAATGGAGAAGAAACTAGCAG 0.443000 21 5 0 0 0.000602 0 0 DISP1 84976 broad.mit.edu 37 1 223177379 223177379 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:223177379C>T uc001hnu.2 + 9 2966 c.2640C>T c.(2638-2640)ccC>ccT p.P880P NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 880 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGAGCTTCCCCTACAAGCAAG 0.502000 291 118 0 0 0.003610 0 0 PAK3 5063 broad.mit.edu 37 X 110391071 110391071 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:110391071C>T uc010npv.1 + 4 518 c.491C>T c.(490-492)tCc>tTc p.S164F PAK3_uc010npt.1_Missense_Mutation_p.S128F|PAK3_uc010npu.1_Missense_Mutation_p.S128F|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.S128F|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.S149F|PAK3_uc004epa.2_Missense_Mutation_p.S143F NM_001128168 NP_001121640 O75914 PAK3_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA. 143 Linker. multicellular organismal development ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TTCTATGATTCCAAAGAAACA 0.378000 TSP Lung(19;0.15) 6 13 0 0 0.001368 0 0 C2CD2 25966 broad.mit.edu 37 21 43338965 43338965 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:43338965C>T uc002yzw.3 - 4 839 c.597_splice c.e4+1 p.E199_splice C2CD2_uc002yzu.3_Splice_Site_p.E31_splice|C2CD2_uc002yzv.3_Splice_Site_p.E44_splice|C2CD2_uc002yzx.1_Splice_Site_p.E44_splice NM_015500 NP_950251 Q9Y426 CU025_HUMAN Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA. 199 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ACGGACTGACCTCCCCCAGTG 0.517000 29 17 0 0 0.007413 0 0 CCDC87 55231 broad.mit.edu 37 11 66359889 66359889 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:66359889G>A uc001oiq.4 - 0 666 c.598C>T c.(598-600)Ccc>Tcc p.P200S CCS_uc001oir.3_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA. 200 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GTCCCAGCGGGGCAGACAGGG 0.607000 25 9 0 0 0.008291 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334064 39334064 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:39334064G>A uc002hwd.3 - 0 397 c.353C>T c.(352-354)cCc>cTc p.P118L NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA. 118 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGCAGCTGGGGCGGTAGCA 0.612000 60 63 0 0 0.003610 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513233 106513233 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:106513233T>C uc003vdv.4 + 3 2222 c.2137T>C c.(2137-2139)Ttc>Ctc p.F713L PIK3CG_uc003vdu.3_Missense_Mutation_p.F713L|PIK3CG_uc003vdw.3_Missense_Mutation_p.F713L NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 713 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TCAGCAGAGGTTCGCTGTGAT 0.458000 51 18 0 0 0.008871 0 0 ARFIP2 23647 broad.mit.edu 37 11 6500164 6500164 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6500164C>T uc001mdk.3 - 4 592 c.341G>A c.(340-342)cGa>cAa p.R114Q ARFIP2_uc010ran.2_Missense_Mutation_p.R147Q|ARFIP2_uc010ral.2_Missense_Mutation_p.R76Q|ARFIP2_uc010ram.2_Missense_Mutation_p.R29Q|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank NM_012402 NP_001229784 P53365 ARFP2_HUMAN Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 2, mRNA. 114 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCGACCAAATCGTTCTGATAA 0.537000 16 6 0 0 0.001984 0 0 SLC17A5 26503 broad.mit.edu 37 6 74325154 74325154 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74325154G>A uc003phn.4 - 7 1123 c.995C>T c.(994-996)tCa>tTa p.S332L SLC17A5_uc010kax.3_5'UTR|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.S201L NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA. 332 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATAAGGCAATGAAGATAAAAA 0.368000 24 8 0 0 0.004482 0 0 C15orf59 388135 broad.mit.edu 37 15 74032662 74032662 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:74032662A>T uc002avy.3 - 1 823 c.478T>A c.(478-480)Tcc>Acc p.S160T NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA. 160 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCCTCACTGGAGGAGTCTGGG 0.662000 32 19 0 0 0.006122 0 0 ADCY1 107 broad.mit.edu 37 7 45726197 45726197 + Silent SNP C T T rs148089389 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:45726197C>T uc003tne.4 + 13 2397 c.2379C>T c.(2377-2379)ctC>ctT p.L793L NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 793 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CCATCCTGCTCTTCTCCTGTG 0.627000 39 16 0 0 0.006122 0 0 DPP10 57628 broad.mit.edu 37 2 116447288 116447288 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:116447288C>T uc002tle.3 + 5 500 c.479C>T c.(478-480)tCa>tTa p.S160L DPP10_uc002tla.2_Missense_Mutation_p.S156L|DPP10_uc002tlb.2_Missense_Mutation_p.S106L|DPP10_uc002tlc.2_Missense_Mutation_p.S152L|DPP10_uc002tlf.2_Missense_Mutation_p.S149L NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 156 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TATACTGCTTCATATGTGATT 0.259000 3 9 0 0 0.006214 0 0 LRRC18 474354 broad.mit.edu 37 10 50121466 50121466 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:50121466G>A uc001jhd.3 - 0 815 c.735C>T c.(733-735)tcC>tcT p.S245S WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.S245S NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 245 cytoplasm p.S245S(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CCTTGGCCATGGAATTGGGTG 0.537000 76 41 0 0 0.006230 0 0 COL15A1 1306 broad.mit.edu 37 9 101829170 101829170 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:101829170T>C uc004azb.1 + 39 3864 c.3658T>C c.(3658-3660)Ttg>Ctg p.L1220L NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 1220 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCAGCTGCATTTGGCTGCTCT 0.483000 32 15 0 0 0.003163 0 0 C9orf78 51759 broad.mit.edu 37 9 132593232 132593232 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:132593232G>A uc004byp.3 - 5 532 c.460C>T c.(460-462)Cgt>Tgt p.R154C C9orf78_uc004byo.3_Missense_Mutation_p.R79C|C9orf78_uc004byq.1_Missense_Mutation_p.R100C NM_016520 NP_057604 Q9NZ63 CI078_HUMAN Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA. 154 kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) GAGGAAACACGGATGTTTTCT 0.473000 15 10 0 0 0.006214 0 0 CDC40 51362 broad.mit.edu 37 6 110514406 110514406 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:110514406C>T uc003pua.3 + 1 272 c.211C>T c.(211-213)Cac>Tac p.H71Y NM_015891 NP_056975 O60508 PRP17_HUMAN Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA. 71 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) GACTGGAGTTCACCTTGACCC 0.348000 37 10 0 0 0.008291 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760883 186760883 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:186760883C>T uc003frb.3 + 3 1025 c.392C>T c.(391-393)cCa>cTa p.P131L ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Missense_Mutation_p.P131L NM_173216 NP_775323 P15907 SIAT1_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA. 131 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|extracellular region|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GGGCCAGGACCAGGCATCAAG 0.488000 26 11 0 0 0.008291 0 0 KLRB1 3820 broad.mit.edu 37 12 9760381 9760381 + Missense_Mutation SNP C T T rs144231382 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:9760381C>T uc010sgt.2 - 0 117 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_002258 NP_002249 Q12918 KLRB1_HUMAN Homo sapiens killer cell lectin-like receptor subfamily B, member 1 (KLRB1), mRNA. 19 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 GAAGAACTTTCTGGGCCTGAG 0.413000 45 19 0 0 0.001882 0 0 FGF23 8074 broad.mit.edu 37 12 4479772 4479772 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:4479772G>A uc001qmq.1 - 2 639 c.493C>T c.(493-495)Ccc>Tcc p.P165S NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN Homo sapiens fibroblast growth factor 23 (FGF23), mRNA. 165 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TGAATTAGGGGGATCTCGTTC 0.657000 49 16 0 0 0.007413 0 0 TAGAP 117289 broad.mit.edu 37 6 159462504 159462504 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:159462504C>T uc003qrz.3 - 5 691 c.359G>A c.(358-360)gGg>gAg p.G120E TAGAP_uc011eft.2_Missense_Mutation_p.G57E|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Missense_Mutation_p.G120E NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 120 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity p.E119A(1) NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCTGAATATCCCTTCCGTTGA 0.502000 35 8 0 0 0.003080 0 0 POPDC2 64091 broad.mit.edu 37 3 119367478 119367478 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:119367478G>A uc003ecx.1 - 2 772 c.638C>T c.(637-639)tCc>tTc p.S213F POPDC2_uc010hqw.1_Missense_Mutation_p.S213F|POPDC2_uc003ecy.1_Missense_Mutation_p.S31F NM_022135 NP_071418 Q9HBU9 POPD2_HUMAN Homo sapiens popeye domain containing 2 (POPDC2), mRNA. 213 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) CCGGGGCCAGGAAATGTAGCT 0.473000 37 15 0 0 0.010504 0 0 ZNF207 7756 broad.mit.edu 37 17 30694883 30694883 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:30694883C>T uc010csz.3 + 10 1370 c.1023C>T c.(1021-1023)ttC>ttT p.F341F ZNF207_uc002hhj.4_Silent_p.F338F|ZNF207_uc002hhh.4_Silent_p.F322F|ZNF207_uc002hhi.4_Silent_p.F307F|ZNF207_uc002hhk.1_Silent_p.F338F|ZNF207_uc002hhl.1_Non-coding_Transcript O43670 ZN207_HUMAN Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA. 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) AGCCTACATTCCCTGCTTATA 0.438000 31 25 0 0 0.003330 0 0 CRNKL1 51340 broad.mit.edu 37 20 20031172 20031172 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:20031172G>A uc002wrs.3 - 2 661 c.629C>T c.(628-630)cCt>cTt p.P210L C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.P198L NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 210 Poly-Pro. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 CTTCTGTTGAGGTGGAGGTGG 0.393000 16 11 0 0 0.008291 0 0 KLRK1 22914 broad.mit.edu 37 12 10532306 10532306 + Silent SNP G A A rs148179014 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:10532306G>A uc009zhj.3 - 3 411 c.234C>T c.(232-234)ttC>ttT p.F78F AK096314_uc001qya.1_Non-coding_Transcript|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.F78F|KLRK1_uc009zhk.3_Silent_p.F78F|KLRK1_uc001qyd.3_Silent_p.F78F NM_007360 NP_001186734 P26718 NKG2D_HUMAN Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA. 78 T cell costimulation|natural killer cell activation integral to plasma membrane sugar binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1) 9 TACAGTTTAGGAATACAGCAC 0.328000 35 4 0 0 0.009096 0 0 SULF1 23213 broad.mit.edu 37 8 70515487 70515487 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:70515487C>T uc003xyg.2 + 9 1683 c.1122C>T c.(1120-1122)ctC>ctT p.L374L SULF1_uc010lza.1_Silent_p.L374L|SULF1_uc003xyd.2_Silent_p.L374L|SULF1_uc003xye.2_Silent_p.L374L|SULF1_uc003xyf.2_Silent_p.L374L|SULF1_uc003xyh.1_Non-coding_Transcript NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 374 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTGCTGGGCTCGACACACCTC 0.547000 57 19 0 0 0.007413 0 0 abParts 0 broad.mit.edu 37 14 106877922 106877922 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106877922G>A uc021ser.1 - 409 c.13003C>T Parts of antibodies, mostly variable regions. GCTGGGACAGGACCCCTGTGA 0.592000 25 14 0 0 0.004007 0 0 DNAH5 1767 broad.mit.edu 37 5 13729599 13729599 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13729599C>T uc003jfd.2 - 68 11874 c.11832G>A c.(11830-11832)ctG>ctA p.L3944L DNAH5_uc003jfc.2_Silent_p.L112L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3944 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCACCAAATTCAGCCATGTTA 0.373000 Kartagener syndrome 28 13 0 0 0.001855 0 0 UCP3 7352 broad.mit.edu 37 11 73712518 73712518 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:73712518G>A uc001our.3 - 6 1233 c.878C>T c.(877-879)aCc>aTc p.T293I NM_003356 NP_003347 P55916 UCP3_HUMAN Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA. 293 Purine nucleotide binding (By similarity). mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) CTGCTCATAGGTTACGAACAT 0.478000 24 7 0 0 0.003080 0 0 FDXR 2232 broad.mit.edu 37 17 72862359 72862360 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72862359_72862360CC>TT uc010wrl.2 - 4 616_617 c.529_530GG>AA c.(529-531)ggg>AAg p.G177K FDXR_uc010wri.2_Missense_Mutation_p.G82K|FDXR_uc010wrj.2_Missense_Mutation_p.G132K|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Missense_Mutation_p.G134K|FDXR_uc002jly.3_Missense_Mutation_p.G134K|FDXR_uc010wrk.2_Missense_Mutation_p.G165K|FDXR_uc010wrm.2_Missense_Mutation_p.G94K|FDXR_uc002jlz.3_Missense_Mutation_p.G126K|FDXR_uc002jmb.3_Non-coding_Transcript NM_024417 NP_077728 P22570 ADRO_HUMAN Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 134 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GTCCTCTGCCCCGTAGCTCTGA 0.658000 29 17 0 0 0.004672 0 0 CASR 846 broad.mit.edu 37 3 121976156 121976156 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:121976156G>A uc003eew.4 + 2 852 c.414G>A c.(412-414)acG>acA p.T138T CASR_uc003eev.4_Silent_p.T138T NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 138 T -> M (in FHH). 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) TTCCCTCTACGATTGCTGTGG 0.517000 40 19 0 0 0.010504 0 0 COL5A1 1289 broad.mit.edu 37 9 137708903 137708903 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:137708903C>T uc004cfe.3 + 52 4536 c.4154C>T c.(4153-4155)cCa>cTa p.P1385L NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1385 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAACCAGGTCCATCGGGGCCT 0.542000 32 12 0 0 0.001368 0 0 TRPM2 7226 broad.mit.edu 37 21 45825123 45825123 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:45825123C>T uc010gpt.1 + 16 2737 c.2637C>T c.(2635-2637)ttC>ttT p.F879F TRPM2_uc002zet.1_Silent_p.F879F|TRPM2_uc002zeu.1_Silent_p.F879F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F879F|TRPM2_uc002zex.1_Silent_p.F665F|TRPM2_uc002zey.1_Silent_p.F392F NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 879 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TCTTGCTCTTCGTGGCAGGGC 0.622000 36 15 0 0 0.006122 0 0 HOXD13 3239 broad.mit.edu 37 2 176959406 176959406 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:176959406G>A uc002ukf.1 + 1 1067 c.980G>A c.(979-981)cGa>cAa p.R327Q NM_000523 NP_000514 P35453 HXD13_HUMAN Homo sapiens homeobox D13 (HOXD13), mRNA. 327 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TTTCAGAACCGAAGAGTGAAG 0.468000 T NUP98 AML* 26 9 0 0 0.006214 0 0 EPHA8 2046 broad.mit.edu 37 1 22913029 22913029 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:22913029C>T uc001bfx.1 + 3 1005 c.880C>T c.(880-882)Cct>Tct p.P294S EPHA8_uc001bfw.3_Missense_Mutation_p.P294S NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 294 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.P294L(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGCCCGCTGCCCTCCCCACAG 0.687000 32 13 0 0 0.001368 0 0 BCL11B 64919 broad.mit.edu 37 14 99640494 99640494 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:99640494C>T uc001yga.3 - 3 2946 c.2679G>A c.(2677-2679)agG>agA p.R893R BCL11B_uc001ygb.3_Silent_p.R822R NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 893 nucleus zinc ion binding p.E892K(1)|p.E892*(1) NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) gcgcTTAGCTCCTCTCGGCCT 0.612000 T TLX3 T-ALL 19 7 0 0 0.003080 0 0 OR7A5 26659 broad.mit.edu 37 19 14938706 14938706 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:14938706G>A uc002mzw.3 - 0 571 c.348C>T c.(346-348)tcC>tcT p.S116S OR7A5_uc010xoa.2_Silent_p.S116S NM_017506 NP_059976 Q15622 OR7A5_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 AGGCCATCACGGACAGGAGGA 0.478000 37 12 0 0 0.001855 0 0 TYRO3 7301 broad.mit.edu 37 15 41854896 41854896 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:41854896C>T uc001zof.2 + 3 796 c.560C>T c.(559-561)cCa>cTa p.P187L NM_006293 NP_006284 Q06418 TYRO3_HUMAN Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA. 187 Ig-like C2-type 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCTCCCTCTCCATCTGTTTTA 0.572000 16 5 0 0 0.001984 0 0 CCDC74A 90557 broad.mit.edu 37 2 132289353 132289353 + Missense_Mutation SNP C T T rs145934024 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:132289353C>T uc002tta.3 + 3 713 c.661C>T c.(661-663)Cct>Tct p.P221S CCDC74A_uc002ttb.3_Missense_Mutation_p.P155S|CCDC74A_uc021vpq.1_Missense_Mutation_p.P221S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P263S NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA. 221 p.P221S(2) endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGACAAAGTTCCTGGGGTACA 0.577000 56 25 0 0 0.005443 0 0 MOGAT1 116255 broad.mit.edu 37 2 223554078 223554078 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:223554078C>T uc010fws.1 + 2 416 c.368C>T c.(367-369)tCt>tTt p.S123F MOGAT1_uc010fwt.1_Missense_Mutation_p.S83F NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA. 123 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GGGAATTTTTCTGTAAATTAT 0.408000 22 24 0 0 0.003954 0 0 ZNF670 93474 broad.mit.edu 37 1 247200868 247200868 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247200868G>A uc001icd.2 - 3 1270 c.1053C>T c.(1051-1053)gcC>gcT p.A351A ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Silent_p.A350A NM_033213 NP_149990 Q9BS34 ZN670_HUMAN Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA. 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGCTTCGAAGGGCACTGGAAG 0.403000 27 22 0 0 0.003954 0 0 NXPH3 11248 broad.mit.edu 37 17 47656122 47656122 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:47656122G>A uc002ipa.3 + 1 503 c.219G>A c.(217-219)ggG>ggA p.G73G NM_007225 NP_009156 O95157 NXPH3_HUMAN Homo sapiens neurexophilin 3 (NXPH3), mRNA. 73 II. neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CCCCGCCTGGGGAGGCTTGGG 0.672000 47 32 0 0 0.006230 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408071 107408071 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:107408071C>T uc003ver.2 - 19 2435 c.2224G>A c.(2224-2226)Gat>Aat p.D742N SLC26A3_uc003ves.2_Missense_Mutation_p.D629N NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 742 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATGGTAAAATCAATTTTTCCA 0.323000 10 7 0 0 0.004482 0 0 FER1L6 654463 broad.mit.edu 37 8 125047670 125047670 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:125047670C>A uc003yqw.3 + 18 2645 c.2439C>A c.(2437-2439)caC>caA p.H813Q FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 813 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCACCAATCACCCCCCATCTA 0.542000 27 7 0.00198382 0.00201172 0.001984 1 0 PANK2 80025 broad.mit.edu 37 20 3891387 3891387 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:3891387C>T uc002wkc.3 + 2 1151 c.1145C>T c.(1144-1146)cCg>cTg p.P382L PANK2_uc002wkb.3_Missense_Mutation_p.P91L|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_Missense_Mutation_p.P91L|PANK2_uc002wkf.3_5'UTR NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 382 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding p.P382L(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTGAAAAATCCGTATCCTCTG 0.403000 30 13 0 0 0.001368 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633621 70633621 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:70633621G>A uc001xly.3 - 1 2273 c.1519C>T c.(1519-1521)Ccc>Tcc p.P507S SLC8A3_uc001xlw.3_Missense_Mutation_p.P507S|SLC8A3_uc001xlx.3_Missense_Mutation_p.P507S|SLC8A3_uc001xlz.3_Missense_Mutation_p.P507S|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 507 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CGAGGCAAGGGAAGACTGTTG 0.493000 40 17 0 0 0.004007 0 0 CA1 759 broad.mit.edu 37 8 86240894 86240894 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:86240894G>A uc022axc.1 - 6 760 c.681C>T c.(679-681)ttC>ttT p.F227F CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Silent_p.F227F|CA1_uc022axd.1_Silent_p.F227F|CA1_uc010mae.2_Silent_p.F227F|CA1_uc003ydi.3_Silent_p.F227F NM_001164830 NP_001729 P00915 CAH1_HUMAN Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA. 227 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GAAGGCTGCGGAATTGTGCCA 0.388000 46 24 0 0 0.004656 0 0 AP3B2 8120 broad.mit.edu 37 15 83350185 83350185 + Missense_Mutation SNP G T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:83350185G>T uc010uoi.2 - 4 685 c.508C>A c.(508-510)Cct>Act p.P170T AP3B2_uc010uoh.2_Missense_Mutation_p.P170T|AP3B2_uc010uoj.2_Missense_Mutation_p.P138T|AP3B2_uc010uog.2_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA. 170 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TAGAGTTTAGGGATGGCGTGG 0.572000 41 4 0.00024832 0.000252151 0.009096 1 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101760 46101760 + Silent SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:46101760A>T uc002zfv.3 - 0 319 c.279T>A c.(277-279)ccT>ccA p.P93P TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181686 NP_859014 P59990 KR121_HUMAN Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA. 93 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 AGCAGCAGGAAGGGGTGCTGC 0.622000 40 9 0 0 0.004482 0 0 NRXN1 9378 broad.mit.edu 37 2 50779811 50779811 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:50779811G>A uc021vhh.1 - 7 2594 c.1673C>T c.(1672-1674)tCa>tTa p.S558L NRXN1_uc002rxb.4_Missense_Mutation_p.S230L|NRXN1_uc021vhg.1_Missense_Mutation_p.S598L|NRXN1_uc021vhi.1_Missense_Mutation_p.S594L|NRXN1_uc021vhj.1_Missense_Mutation_p.S554L|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 558 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TATAGTACCTGACCCCATGTC 0.443000 55 20 0 0 0.007413 0 0 NARG2 79664 broad.mit.edu 37 15 60758794 60758794 + Splice_Site SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:60758794T>C uc002agp.3 - 5 763 c.528_splice c.e5+1 p.E176_splice NARG2_uc002ago.3_Splice_Site_p.E39_splice|NARG2_uc010bgk.3_Splice_Site_p.E176_splice|NARG2_uc002agr.1_Splice_Site_p.E176_splice NM_024611 NP_001018099 Q659A1 NARG2_HUMAN Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA. 176 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TTTTTTTACCTCTGTGAAGAG 0.378000 28 12 0 0 0.001855 0 0 CEACAM5 1048 broad.mit.edu 37 19 42221515 42221515 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:42221515C>T uc002orl.3 + 4 1221 c.1100C>T c.(1099-1101)cCc>cTc p.P367L CEACAM5_uc002orj.1_Missense_Mutation_p.P366L NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 367 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCGGTCAGTCCCAGGCTGCAG 0.498000 88 39 0 0 0.002852 0 0 CP 1356 broad.mit.edu 37 3 148924025 148924025 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:148924025C>T uc003ewy.4 - 5 1391 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.E161K|CP_uc003ewz.3_Missense_Mutation_p.E380K|CP_uc010hvf.1_Missense_Mutation_p.E106K NM_000096 NP_000087 P00450 CERU_HUMAN Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA. 380 F5/8 type A 2.|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CAGATGATTTCCTCAGCGGCA 0.403000 40 14 0 0 0.003163 0 0 TBX18 9096 broad.mit.edu 37 6 85466570 85466570 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:85466570G>A uc003pkl.1 - 3 617 c.617C>T c.(616-618)tCg>tTg p.S206L TBX18_uc010kbq.2_Missense_Mutation_p.S48L NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 206 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.S206L(2) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CATCCATTTCGAACTGTGGTA 0.488000 35 9 0 0 0.006214 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027448 2027448 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:2027448G>A uc021qsx.1 - 0 423 c.192C>T c.(190-192)tcC>tcT p.S64S CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.S64S NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 64 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCCACGCAGGGGACAGGGAGG 0.622000 11 3 0 0 0.004672 0 0 PTPRD 5789 broad.mit.edu 37 9 8521361 8521361 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:8521361C>T uc003zkk.3 - 19 1620 c.877G>A c.(877-879)Gat>Aat p.D293N PTPRD_uc003zkp.3_Missense_Mutation_p.D293N|PTPRD_uc003zkq.3_Missense_Mutation_p.D293N|PTPRD_uc003zkr.3_Missense_Mutation_p.D287N|PTPRD_uc003zks.3_Missense_Mutation_p.D283N|PTPRD_uc022bdj.1_Missense_Mutation_p.D290N NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 293 Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGTCTTACATCATTCAGTTCT 0.433000 TSP Lung(15;0.13) 22 14 0 0 0.003163 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884867 228884867 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:228884867C>T uc002vpq.2 - 6 750 c.703G>A c.(703-705)Gaa>Aaa p.E235K SPHKAP_uc002vpp.2_Missense_Mutation_p.E235K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E235K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 235 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTTATATTTTCATAATCTAGT 0.343000 55 27 0 0 0.006320 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140795001 140795001 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140795001C>T uc003lkl.2 + 0 2259 c.2259C>T c.(2257-2259)ttC>ttT p.F753F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.F753F|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 759 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGGCTTTCCTGCAGACCT 0.627000 39 13 0 0 0.001855 0 0 ABHD6 57406 broad.mit.edu 37 3 58271159 58271159 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:58271159C>T uc003djs.4 + 7 1226 c.816C>T c.(814-816)atC>atT p.I272I ABHD6_uc003djt.4_Silent_p.I272I NM_020676 NP_065727 Q9BV23 ABHD6_HUMAN Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA. 272 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) CGACGCAGATCATCTGGGGGA 0.483000 44 14 0 0 0.003163 0 0 ZNF366 167465 broad.mit.edu 37 5 71739801 71739801 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:71739801C>T uc003kce.1 - 4 2203 c.2017G>A c.(2017-2019)Gga>Aga p.G673R NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TCCCATTCTCCCTTGGATGCA 0.612000 116 59 0 0 0.003610 0 0 PRDM1 639 broad.mit.edu 37 6 106555155 106555155 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:106555155G>A uc003prd.2 + 6 2506 c.2272G>A c.(2272-2274)Gaa>Aaa p.E758K PRDM1_uc003pre.3_Missense_Mutation_p.E624K NM_001198 NP_001189 O75626 PRDM1_HUMAN Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA. 758 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AGTGGAGAAGGAAATTCTGGC 0.483000 """D, N, Mis, F, S""" DLBCL 95 25 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179576943 179576943 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179576943G>A uc021vsy.1 - 92 24107 c.23882C>T c.(23881-23883)cCg>cTg p.P7961L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4622L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8888 Ig-like 62. 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) GACAAAATACGGTGGTTCTGC 0.448000 53 15 0 0 0.004007 0 0 WDR96 80217 broad.mit.edu 37 10 105974173 105974173 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:105974173G>A uc001kxw.3 - 3 544 c.428C>T c.(427-429)tCg>tTg p.S143L WDR96_uc001kxx.4_Missense_Mutation_p.S143L|WDR96_uc001kxy.1_Missense_Mutation_p.S143L|WDR96_uc001kxz.3_Missense_Mutation_p.S143L NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 143 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 AATGATACTCGATTCCCAGTT 0.328000 12 6 0 0 0.001984 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13769624C>T uc003jfd.2 - 56 9748 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 57 20 0 0 0.008871 0 0 CNGB1 1258 broad.mit.edu 37 16 57931709 57931709 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:57931709C>T uc002emt.2 - 29 3151 c.3086G>A c.(3085-3087)gGa>gAa p.G1029E CNGB1_uc010cdh.2_Missense_Mutation_p.G1023E NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 1029 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CCTTATTTCTCCAAACACAGA 0.592000 287 51 0 0 0.003610 0 0 CA10 56934 broad.mit.edu 37 17 49825153 49825153 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:49825153C>T uc002itv.4 - 4 1059 c.323G>A c.(322-324)gGa>gAa p.G108E CA10_uc002itw.4_Missense_Mutation_p.G102E|CA10_uc002itx.4_Missense_Mutation_p.G102E|CA10_uc002ity.4_Missense_Mutation_p.G102E|CA10_uc002itz.2_Missense_Mutation_p.G102E NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 102 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) TACGTGTCTTCCAGTGTTGTA 0.542000 50 14 0 0 0.004990 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251645 24251645 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:24251645G>A uc003xdz.2 + 3 568 c.348G>A c.(346-348)acG>acA p.T116T ADAMDEC1_uc010lub.2_Silent_p.T37T|ADAMDEC1_uc011lab.1_Silent_p.T37T NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 116 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AAATTACCACGAAACCTGAGA 0.458000 14 3 0 0 0.004672 0 0 OR4C46 119749 broad.mit.edu 37 11 51515764 51515764 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:51515764C>T uc010ric.2 + 0 483 c.483C>T c.(481-483)atC>atT p.I161I NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F160F(1) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TCCTCTTCATCTTCCAATTAC 0.463000 46 27 0 0 0.005443 0 0 CDH20 28316 broad.mit.edu 37 18 59221606 59221606 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:59221606C>T uc010dps.1 + 10 2236 c.2084C>T c.(2083-2085)cCc>cTc p.P695L CDH20_uc002lif.2_Missense_Mutation_p.P689L NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 695 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GGGGCCGCCCCCAAGACGCGG 0.697000 37 9 0 0 0.006214 0 0 ZBED4 9889 broad.mit.edu 37 22 50279400 50279400 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:50279400C>T uc003bix.2 + 1 2560 c.2090C>T c.(2089-2091)cCt>cTt p.P697L ZBED4_uc021wrx.1_Missense_Mutation_p.P697L NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 697 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CTCCCCGCCCCTTCCTACTTC 0.458000 68 31 0 0 0.003271 0 0 DISP1 84976 broad.mit.edu 37 1 223177389 223177389 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:223177389G>A uc001hnu.2 + 9 2976 c.2650G>A c.(2650-2652)Gag>Aag p.E884K NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 884 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.E884E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTACAAGCAAGAGATTTTTGA 0.488000 265 116 0 0 0.003610 0 0 EYA4 2070 broad.mit.edu 37 6 133789851 133789851 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:133789851G>A uc011ecs.2 + 10 1268 c.952G>A c.(952-954)Gga>Aga p.G318R EYA4_uc011ecq.2_Missense_Mutation_p.G264R|EYA4_uc011ecr.2_Missense_Mutation_p.G264R|EYA4_uc003qec.4_Missense_Mutation_p.G318R|EYA4_uc003qed.4_Missense_Mutation_p.G318R|EYA4_uc003qee.4_Missense_Mutation_p.G295R|BC041459_uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 318 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ATCTCTCCCAGGACTGACTAA 0.408000 78 28 0 0 0.007291 0 0 GABRA1 2554 broad.mit.edu 37 5 161302643 161302643 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:161302643G>A uc010jiw.3 + 6 1022 c.554G>A c.(553-555)gGa>gAa p.G185E GABRA1_uc010jix.3_Missense_Mutation_p.G185E|GABRA1_uc010jiy.3_Missense_Mutation_p.G185E|GABRA1_uc003lyx.4_Missense_Mutation_p.G185E|GABRA1_uc010jiz.3_Missense_Mutation_p.G185E|GABRA1_uc010jja.3_Missense_Mutation_p.G185E|GABRA1_uc010jjb.3_Missense_Mutation_p.G185E NM_000806 NP_001121120 P14867 GBRA1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. 185 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CTAAAATTTGGAAGTTGTGAG 0.393000 40 12 0 0 0.003163 0 0 NOP58 51602 broad.mit.edu 37 2 203149091 203149091 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:203149091C>T uc002uzb.3 + 4 471 c.321C>T c.(319-321)atC>atT p.I107I NOP58_uc010zhv.1_Silent_p.I107I NM_015934 NP_057018 Q9Y2X3 NOP58_HUMAN Homo sapiens NOP58 ribonucleoprotein homolog (yeast) (NOP58), mRNA. 107 cell growth|rRNA processing|snRNP protein import into nucleus Cajal body|box C/D snoRNP complex|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 TCAGTTGTATCCATAGTCCTG 0.338000 10 7 0 0 0.001984 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498443 123498443 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:123498443G>A uc001uej.1 - 2 424 c.225C>T c.(223-225)tcC>tcT p.S75S PITPNM2_uc001uek.1_Silent_p.S75S|PITPNM2_uc009zxu.1_Silent_p.S75S NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 75 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGGGCAGGATGGAGCGGAACC 0.622000 40 16 0 0 0.006122 0 0 CACNG5 27091 broad.mit.edu 37 17 64875095 64875095 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:64875095G>A uc010wqi.2 + 2 439 c.202G>A c.(202-204)Gag>Aag p.E68K CACNG5_uc010wqj.2_Missense_Mutation_p.E68K NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 68 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CACAGGTGAGGAGCGGGGGCG 0.468000 50 20 0 0 0.002299 0 0 PTPRB 5787 broad.mit.edu 37 12 70960357 70960357 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:70960357G>A uc001swb.4 - 12 3138 c.3108C>T c.(3106-3108)atC>atT p.I1036I PTPRB_uc010sto.2_Intron|PTPRB_uc010stp.2_Silent_p.I946I|PTPRB_uc001swc.4_Silent_p.I1254I|PTPRB_uc001swa.4_Silent_p.I1166I|PTPRB_uc001swd.4_Silent_p.I1253I|PTPRB_uc009zrr.2_Silent_p.I1133I NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1036 Fibronectin type-III 12. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCGCAGAAGGATTCCATTTT 0.413000 50 16 0 0 0.004990 0 0 CKAP5 9793 broad.mit.edu 37 11 46800070 46800070 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:46800070C>T uc001ndi.2 - 20 2639 c.2513G>A c.(2512-2514)gGa>gAa p.G838E CKAP5_uc009ylg.1_Missense_Mutation_p.G724E|CKAP5_uc001ndj.2_Missense_Mutation_p.G838E NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 838 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TGGTTCATCTCCATCTTCTCC 0.443000 31 20 0 0 0.010504 0 0 RNF17 56163 broad.mit.edu 37 13 25416274 25416274 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:25416274G>A uc001upr.3 + 18 2619 c.2578G>A c.(2578-2580)Gag>Aag p.E860K RNF17_uc010tdd.1_Missense_Mutation_p.E719K|RNF17_uc010tde.2_Missense_Mutation_p.E860K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E799K|RNF17_uc010aac.3_Missense_Mutation_p.E58K|RNF17_uc010aad.3_5'Flank NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 860 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GCTAGTTAAAGAGGGCCTAGC 0.358000 28 20 0 0 0.002299 0 0 DPPA4 55211 broad.mit.edu 37 3 109049624 109049624 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:109049624C>T uc003dxq.4 - 4 481 c.426G>A c.(424-426)cgG>cgA p.R142R DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Silent_p.R142R NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 142 nucleus protein binding p.R142L(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GCAATGATTTCCGGATTTTGG 0.393000 22 10 0 0 0.008291 0 0 ADAM29 11086 broad.mit.edu 37 4 175897249 175897249 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:175897249G>A uc003iuc.3 + 4 1243 c.573G>A c.(571-573)gtG>gtA p.V191V ADAM29_uc003iud.3_Silent_p.V191V|ADAM29_uc010irr.3_Silent_p.V191V|ADAM29_uc011cki.2_Silent_p.V191V|ADAM29_uc021xuo.1_Silent_p.V191V NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 191 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTTCTTATGTGGGCTGGTGGA 0.358000 27 15 0 0 0.003163 0 0 IGF2-AS 51214 broad.mit.edu 37 11 2161916 2161916 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:2161916G>A uc010qxi.2 + 0 159 c.43G>A c.(43-45)Gag>Aag p.E15K IGF2_uc001lvg.3_5'Flank|IGF2_uc009ydf.3_Intron|IGF2_uc021qcb.1_Intron|IGF2_uc001lvh.3_Intron|IGF2_uc001lvi.3_Intron|IGF2-AS_uc001lvk.2_Non-coding_Transcript|IGF2-AS_uc001lvl.2_Non-coding_Transcript Homo sapiens IGF2 antisense RNA 1 (non-protein coding) (IGF2-AS1), transcript variant 1, non-coding RNA. CGCCCAGCAGGAGCGAGCGCA 0.706000 4 6 0 0 0.001984 0 0 LRRC7 57554 broad.mit.edu 37 1 70505099 70505099 + Missense_Mutation SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:70505099G>C uc001dep.3 + 18 3508 c.3478G>C c.(3478-3480)Gtg>Ctg p.V1160L LRRC7_uc009wbg.3_Missense_Mutation_p.V444L|LRRC7_uc001deq.3_Missense_Mutation_p.V401L NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 1160 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CAGCGTTACAGTGACTGAGTC 0.498000 50 18 0 0 0.007413 0 0 TCL6 27004 broad.mit.edu 37 14 96129863 96129863 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:96129863G>A uc001yep.1 + 5 c.1401G>A TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA. large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) tctttctgcagcccatgccac 0.547000 T TRA@ T-ALL 17 11 0 0 0.008291 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820340 178820340 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:178820340C>T uc001gma.3 - 5 1876 c.1400G>A c.(1399-1401)gGa>gAa p.G467E RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G467E NM_004673 NP_004664 O95841 ANGL1_HUMAN Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA. 467 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 CCAGAAAATTCCATCTTGGTG 0.448000 28 16 0 0 0.006122 0 0 FAM5C 339479 broad.mit.edu 37 1 190234050 190234050 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:190234050C>T uc001gse.1 - 3 795 c.563G>A c.(562-564)aGg>aAg p.R188K FAM5C_uc010pot.1_Missense_Mutation_p.R86K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 188 extracellular region p.R188G(1)|p.D187E(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGTGCTGTCCCTGTCAATGAA 0.443000 41 11 0 0 0.000978 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161161968 161161968 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:161161968G>A uc001fyt.4 - 7 2402 c.1974C>T c.(1972-1974)atC>atT p.I658I NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 658 Cys-rich. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGCCAGCATGGATGCATCGGC 0.562000 OREG0013940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 15 0 0 0.003163 0 0 OR7D2 162998 broad.mit.edu 37 19 9296555 9296555 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9296555C>T uc002mkz.1 + 0 286 c.98C>T c.(97-99)tCc>tTc p.S33F NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA. 33 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CTGTTCCTGTCCATGTACCTG 0.507000 21 14 0 0 0.003163 0 0 COL6A3 1293 broad.mit.edu 37 2 238275439 238275439 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:238275439G>A uc002vwl.2 - 10 5676 c.5391C>T c.(5389-5391)ttC>ttT p.F1797F COL6A3_uc002vwo.2_Silent_p.F1591F|COL6A3_uc010znj.1_Silent_p.F1190F NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1797 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.A1796A(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGCCCACGCGGAACGCTGTGG 0.547000 31 10 0 0 0.006214 0 0 GBX2 2637 broad.mit.edu 37 2 237076349 237076349 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:237076349C>T uc002vvw.1 - 0 304 c.266G>A c.(265-267)gGc>gAc p.G89D GBX2_uc010zng.1_Missense_Mutation_p.G79D NM_001485 NP_001476 P52951 GBX2_HUMAN Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA. 89 LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) GGAGCAGAAGCCTGTGGGCAG 0.771000 11 9 0 0 0.000978 0 0 LZTR1 8216 broad.mit.edu 37 22 21328912 21328912 + Splice_Site SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:21328912T>C uc002ztj.2 + 7 825 c.607_splice c.e7+2 p.G203_splice LZTR1_uc002ztk.2_Splice_Site_p.G203_splice|LZTR1_uc002ztl.2_Splice_Site_p.G209_splice|LZTR1_uc011ahx.1_Splice_Site_p.G191_splice NM_144704 NP_653305 Q8N653 LZTR1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGGTGCAGGTTGGTAGTGGG 0.602000 24 9 0 0 0.004482 0 0 GALNTL2 117248 broad.mit.edu 37 3 16268951 16268951 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:16268951G>A uc003car.4 + 9 2339 c.1864G>A c.(1864-1866)Gga>Aga p.G622R GALNTL2_uc003caq.4_Missense_Mutation_p.G355R|GALNTL2_uc003cas.4_Missense_Mutation_p.G152R NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 622 Ricin B-type lectin. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 TCCGTGTGATGGAAAAGCCCG 0.433000 40 22 0 0 0.003954 0 0 BBOX1 8424 broad.mit.edu 37 11 27077077 27077077 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:27077077T>C uc001mre.1 + 2 468 c.100T>C c.(100-102)Ttg>Ctg p.L34L BBOX1_uc009yih.1_Silent_p.L34L|BBOX1_uc001mrg.1_Silent_p.L34L|BBOX1_uc021qfd.1_Silent_p.L34L NM_003986 NP_003977 O75936 BODG_HUMAN Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA. 34 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AGCTGTATGGTTGAGAGACAA 0.473000 21 13 0 0 0.001855 0 0 KDR 3791 broad.mit.edu 37 4 55968074 55968074 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:55968074G>A uc003has.3 - 14 2558 c.2256C>T c.(2254-2256)ttC>ttT p.F752F KDR_uc003hat.1_Silent_p.F752F NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 752 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTCTATTATGAAAAATGCCT 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 43 20 0 0 0.010504 0 0 FREM1 158326 broad.mit.edu 37 9 14859353 14859353 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:14859353C>T uc003zlm.3 - 4 1275 c.459G>A c.(457-459)gcG>gcA p.A153A FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 153 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTTTATCAATCGCTTGGGACA 0.488000 34 37 0 0 0.006999 0 0 CCDC141 285025 broad.mit.edu 37 2 179736919 179736919 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179736919C>T uc002une.2 - 12 2138 c.2020G>A c.(2020-2022)Gcc>Acc p.A674T CCDC141_uc002unf.1_Missense_Mutation_p.A153T NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 99 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTTTCCGTGGCTTTAAGCTGC 0.458000 23 8 0 0 0.003080 0 0 C2orf53 339779 broad.mit.edu 37 2 27361021 27361021 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:27361021G>A uc002rjb.2 - 2 757 c.177C>T c.(175-177)ccC>ccT p.P59P C2orf53_uc021vfb.1_Silent_p.P59P NM_178553 NP_848648 Q53SZ7 CB053_HUMAN Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA. 59 Pro-rich. cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGGGAGGAGGGACGACGGG 0.567000 25 3 0 0 0.004672 0 0 MAEL 84944 broad.mit.edu 37 1 166958989 166958989 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:166958989G>A uc001gdy.1 + 1 219 c.148G>A c.(148-150)Gaa>Aaa p.E50K MAEL_uc021peh.1_5'UTR|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank NM_032858 NP_116247 Q96JY0 MAEL_HUMAN Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA. 50 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GAGGGAGGAAGAAAAGGAGAA 0.547000 25 10 0 0 0.006214 0 0 LONRF3 79836 broad.mit.edu 37 X 118140157 118140157 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:118140157C>T uc004eqw.3 + 5 1520 c.1489C>T c.(1489-1491)Cac>Tac p.H497Y LONRF3_uc004eqx.3_Missense_Mutation_p.H456Y|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.H241Y NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA. 497 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 ATGCCTAGATCACAACGCAAA 0.348000 27 45 0 0 0.003610 0 0 CARD6 84674 broad.mit.edu 37 5 40843599 40843599 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:40843599G>A uc003jmg.3 + 1 704 c.629G>A c.(628-630)gGa>gAa p.G210E NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 210 Asp/Glu-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TTATACTTAGGAAAAGAGGAA 0.398000 15 9 0 0 0.006214 0 0 CREBBP 1387 broad.mit.edu 37 16 3900838 3900838 + Silent SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3900838T>A uc002cvv.3 - 1 462 c.258A>T c.(256-258)atA>atT p.I86I CREBBP_uc002cvw.3_Silent_p.I86I NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 86 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCACATTTCCTATTCCTGGGT 0.562000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 37 17 0 0 0.006122 0 0 GALNTL5 168391 broad.mit.edu 37 7 151704929 151704929 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:151704929G>A uc003wkp.3 + 6 1196 c.926G>A c.(925-927)gGa>gAa p.G309E GALNTL5_uc010lqf.3_Missense_Mutation_p.G198E|GALNTL5_uc003wkq.3_Missense_Mutation_p.G60E|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA. 309 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) GCAATGTCTGGAGGAATTTTT 0.323000 37 15 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9012794 9012794 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9012794C>T uc002mkp.3 - 33 38854 c.38650G>A c.(38650-38652)Gag>Aag p.E12884K MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12886 SEA 6. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACCCGCTCCGTGGTGTTG 0.587000 68 26 0 0 0.004656 0 0 ABCA6 23460 broad.mit.edu 37 17 67106984 67106984 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:67106984G>A uc002jhw.1 - 16 2405 c.2230C>T c.(2230-2232)Ctt>Ttt p.L744F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 744 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GTATATACAAGCTTTTCTTTG 0.303000 19 4 0 0 0.009096 0 0 PKD1 5310 broad.mit.edu 37 16 2153848 2153848 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:2153848G>A uc002cos.1 - 22 8419 c.8210C>T c.(8209-8211)tCa>tTa p.S2737L TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S2737L|PKD1_uc010bse.1_Non-coding_Transcript NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 2737 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCCCAGCTCTGAGGGCTGTGG 0.647000 16 7 0 0 0.001984 0 0 CPNE4 131034 broad.mit.edu 37 3 131404763 131404763 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:131404763G>A uc011blq.2 - 5 711 c.601C>T c.(601-603)Cgt>Tgt p.R201C CPNE4_uc003eok.3_Missense_Mutation_p.R183C|CPNE4_uc003eol.3_Missense_Mutation_p.R201C|CPNE4_uc003eom.3_Missense_Mutation_p.R183C NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 183 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCATTCATACGAAAAATTTCC 0.383000 13 8 0 0 0.006214 0 0 DPPA2 151871 broad.mit.edu 37 3 109026926 109026926 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:109026926G>A uc003dxo.3 - 5 858 c.611C>T c.(610-612)tCa>tTa p.S204L NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 204 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AATGGAACATGAATTCAAAGC 0.453000 39 5 0 0 0.000602 0 0 GRIA2 2891 broad.mit.edu 37 4 158224908 158224908 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:158224908G>A uc003ipm.4 + 2 893 c.434G>A c.(433-435)tGg>tAg p.W145* GRIA2_uc011cit.2_Nonsense_Mutation_p.W98*|GRIA2_uc021xtr.1_Nonsense_Mutation_p.W145*|GRIA2_uc003ipl.4_Nonsense_Mutation_p.W145*|GRIA2_uc003ipk.4_Nonsense_Mutation_p.W98*|GRIA2_uc010iqh.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 145 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TACTATCAATGGGACAAGTTT 0.438000 66 30 0 0 0.007291 0 0 PTCH1 5727 broad.mit.edu 37 9 98231303 98231303 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:98231303G>A uc004avk.4 - 13 2168 c.1980C>T c.(1978-1980)tcC>tcT p.S660S PTCH1_uc010mro.3_Silent_p.S509S|PTCH1_uc010mrp.3_Silent_p.S509S|PTCH1_uc010mrq.3_Silent_p.S509S|PTCH1_uc004avl.4_Silent_p.S509S|PTCH1_uc004avm.4_Silent_p.S659S|PTCH1_uc010mrr.3_Silent_p.S594S|LOC100507346_uc022bkm.1_Non-coding_Transcript|PTCH1_uc010mrs.1_Silent_p.S328S NM_000264 NP_001077076 Q13635 PTC1_HUMAN Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA. 660 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.Q659Q(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GCTGGACAGTGGACTGCATGG 0.617000 66 24 0 0 0.004656 0 0 COL6A6 131873 broad.mit.edu 37 3 130287413 130287413 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:130287413A>G uc010htl.3 + 4 2397 c.2366A>G c.(2365-2367)gAt>gGt p.D789G NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 789 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGCATTGAAGATGATCTTGTT 0.458000 37 18 0 0 0.010504 0 0 RTP3 83597 broad.mit.edu 37 3 46542317 46542317 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:46542317G>A uc003cps.1 + 1 695 c.627G>A c.(625-627)agG>agA p.R209R NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA. 209 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) ACATCTGTAGGAACTTAAGCA 0.433000 25 16 0 0 0.004990 0 0 abParts 0 broad.mit.edu 37 14 106926618 106926618 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106926618G>A uc021ser.1 - 324 c.11353C>T Parts of antibodies, mostly variable regions. TAGCAACAAGGAAAACCCAGC 0.473000 62 25 0 0 0.006320 0 0 OPRK1 4986 broad.mit.edu 37 8 54142134 54142134 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:54142134G>A uc003xrh.1 - 2 1241 c.866C>T c.(865-867)cCc>cTc p.P289L OPRK1_uc022aup.1_Missense_Mutation_p.P169L|OPRK1_uc003xri.1_Missense_Mutation_p.P289L|OPRK1_uc010lyc.1_Missense_Mutation_p.P200L NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 289 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TATGTGAATGGGAGTCCAGCA 0.567000 19 8 0 0 0.004482 0 0 DCC 1630 broad.mit.edu 37 18 50976915 50976915 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:50976915C>T uc002lfe.2 + 22 3891 c.3275C>T c.(3274-3276)cCt>cTt p.P1092L DCC_uc010dpf.2_Missense_Mutation_p.P727L NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 1092 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGTGTCACTCCTCAGAAGAAC 0.512000 36 13 0 0 0.001368 0 0 PRAM1 84106 broad.mit.edu 37 19 8563972 8563972 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:8563972G>A uc002mkd.3 - 1 783 c.720C>T c.(718-720)tcC>tcT p.S240S NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 288 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GCTGCGGCACGGACTTCTTAG 0.612000 39 12 0 0 0.000978 0 0 CACNA1C 775 broad.mit.edu 37 12 2676817 2676817 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:2676817C>T uc009zdu.1 + 12 2065 c.1752C>T c.(1750-1752)ttC>ttT p.F584F CACNA1C_uc001qkc.2_Silent_p.F584F|CACNA1C_uc001qjz.2_Silent_p.F584F|CACNA1C_uc001qkd.2_Silent_p.F584F|CACNA1C_uc001qke.2_Silent_p.F584F|CACNA1C_uc001qkf.2_Silent_p.F584F|CACNA1C_uc009zdw.1_Silent_p.F584F|CACNA1C_uc001qkg.2_Silent_p.F584F|CACNA1C_uc001qkh.2_Silent_p.F584F|CACNA1C_uc001qkl.2_Silent_p.F584F|CACNA1C_uc001qkj.2_Silent_p.F584F|CACNA1C_uc001qkk.2_Silent_p.F584F|CACNA1C_uc001qkn.2_Silent_p.F584F|CACNA1C_uc001qkm.2_Silent_p.F584F|CACNA1C_uc001qko.2_Silent_p.F584F|CACNA1C_uc001qkp.2_Silent_p.F584F|CACNA1C_uc001qkq.2_Silent_p.F584F|CACNA1C_uc001qku.2_Silent_p.F584F|CACNA1C_uc001qkr.2_Silent_p.F584F|CACNA1C_uc001qks.2_Silent_p.F584F|CACNA1C_uc001qkt.2_Silent_p.F584F|CACNA1C_uc009zdv.1_Silent_p.F581F|CACNA1C_uc001qkb.2_Silent_p.F584F|CACNA1C_uc001qka.1_Silent_p.F119F|CACNA1C_uc001qki.1_Silent_p.F320F NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 584 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGGCCTACTTCGTGTCCCTCT 0.607000 9 4 0 0 0.009096 0 0 ZNF484 83744 broad.mit.edu 37 9 95609601 95609601 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:95609601G>A uc004asu.1 - 4 1617 c.1468C>T c.(1468-1470)Cat>Tat p.H490Y ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H492Y|ZNF484_uc004asv.1_Missense_Mutation_p.H454Y|ZNF484_uc010mrb.1_Missense_Mutation_p.H454Y NM_031486 NP_001007102 Q5JVG2 ZN484_HUMAN Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA. 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TCTCCTGTATGAATTTTCTGG 0.393000 31 14 0 0 0.001855 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153279639 153279639 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153279639C>T uc001fbn.1 - 1 213 c.160G>A c.(160-162)Ggg>Agg p.G54R NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 54 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACTGCATCCCTGGGAGCTGG 0.632000 13 7 0 0 0.003080 0 0 PLCL2 23228 broad.mit.edu 37 3 17052090 17052090 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:17052090G>A uc011awc.2 + 2 1324 c.1228G>A c.(1228-1230)Gat>Aat p.D410N PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.D292N NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 418 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTATATATTCGATCCAGAACA 0.388000 43 31 0 0 0.002445 0 0 TRIM71 131405 broad.mit.edu 37 3 32931959 32931959 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:32931959C>T uc003cff.3 + 3 1326 c.1263C>T c.(1261-1263)gtC>gtT p.V421V NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 421 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 TGCAGCAGGTCCTGGAGGAGG 0.617000 36 9 0 0 0.006214 0 0 CCR2 729230 broad.mit.edu 37 3 46399427 46399427 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:46399427G>A uc003cpn.4 + 1 894 c.409G>A c.(409-411)Gat>Aat p.D137N CCR2_uc003cpm.4_Missense_Mutation_p.D137N|CCR2_uc021wxa.1_Missense_Mutation_p.D137N NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 137 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CCTGACAATCGATAGATACCT 0.458000 232 115 0 0 0.003610 0 0 OR3A2 4995 broad.mit.edu 37 17 3181392 3181392 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:3181392C>T uc002fvg.3 - 0 877 c.838G>A c.(838-840)Gat>Aat p.D280N NM_002551 NP_002542 P47893 OR3A2_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA. 280 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 ACCCCTTTATCCTTGTCTGAA 0.478000 32 14 0 0 0.002450 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947813 57947813 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:57947813C>T uc021qjm.1 + 0 897 c.897C>T c.(895-897)gcC>gcT p.A299A OR9Q1_uc001nmj.3_Silent_p.A299A NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TGAAGGAGGCCCTGAGAAAAA 0.478000 18 8 0 0 0.004482 0 0 AVPR1B 553 broad.mit.edu 37 1 206224958 206224958 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:206224958C>T uc001hds.2 + 0 676 c.518C>T c.(517-519)tCc>tTc p.S173F NM_000707 NP_000698 P47901 V1BR_HUMAN Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA. 173 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TTCATTTTTTCCCTGCGGGAG 0.652000 32 24 0 0 0.003954 0 0 LAMA4 3910 broad.mit.edu 37 6 112454586 112454586 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:112454586G>A uc003pvu.2 - 26 3970 c.3661C>T c.(3661-3663)Ctg>Ttg p.L1221L LAMA4_uc003pvv.2_Silent_p.L1214L|LAMA4_uc003pvt.2_Silent_p.L1214L NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 1221 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCAACTCCCAGGGTTTCTGTC 0.433000 68 11 0 0 0.000978 0 0 PNLDC1 154197 broad.mit.edu 37 6 160239999 160239999 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:160239999C>T uc003qsy.1 + 16 1318 c.1279C>T c.(1279-1281)Ccc>Tcc p.P427S PNLDC1_uc003qsx.1_Missense_Mutation_p.P416S NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA. 416 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TCCAGATTATCCCAGTATCCG 0.443000 78 19 0 0 0.010504 0 0 FAM50B 26240 broad.mit.edu 37 6 3850849 3850849 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:3850849C>T uc003mvu.3 + 1 916 c.804C>T c.(802-804)ttC>ttT p.F268F FAM50B_uc021ykt.1_Silent_p.F268F NM_012135 NP_036267 Q9Y247 FA50B_HUMAN Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA. 268 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) TCTTCAGCTTCGATGTGCACG 0.607000 46 11 0 0 0.008291 0 0 OR4M1 441670 broad.mit.edu 37 14 20248610 20248610 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20248610C>T uc010tku.2 + 0 129 c.129C>T c.(127-129)atC>atT p.I43I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAGGAAATATCCTTATCATTT 0.418000 92 45 0 0 0.003610 0 0 SLC24A2 25769 broad.mit.edu 37 9 19576974 19576974 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:19576974C>T uc003zoa.2 - 4 1329 c.1176G>A c.(1174-1176)aaG>aaA p.K392K SLC24A2_uc003zob.2_Silent_p.K375K NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA. 392 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CATGACATTTCTTCTTGGCGA 0.507000 41 26 0 0 0.002096 0 0 MUC16 94025 broad.mit.edu 37 19 9074844 9074844 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9074844C>T uc002mkp.3 - 2 12806 c.12602G>A c.(12601-12603)gGg>gAg p.G4201E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4203 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGGTCTTCCCCAGGCCAGA 0.502000 25 4 0 0 0.001168 0 0 WDR81 124997 broad.mit.edu 37 17 1631646 1631646 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:1631646C>T uc002ftj.2 + 0 3522 c.3393C>T c.(3391-3393)ccC>ccT p.P1131P WDR81_uc002fth.2_Silent_p.P80P|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron|WDR81_uc010vqq.1_5'Flank NM_001163809 NP_001157281 B3KXU1 B3KXU1_HUMAN Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA. 0 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGGGTGCCCCCGTGGACAAGA 0.657000 42 16 0 0 0.006122 0 0 FSCN3 29999 broad.mit.edu 37 7 127235401 127235401 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:127235401C>T uc003vmd.2 + 1 404 c.185C>T c.(184-186)gCc>gTc p.A62V FSCN3_uc003vmc.1_Missense_Mutation_p.A17V|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.A62V NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA. 62 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GAGACACAGGCCGTGGTGCGA 0.562000 33 10 0 0 0.008291 0 0 CACNA1A 773 broad.mit.edu 37 19 13418632 13418632 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:13418632G>A uc002mwy.3 - 14 2186 c.1950C>T c.(1948-1950)ttC>ttT p.F650F CACNA1A_uc010dzc.2_Silent_p.F176F|CACNA1A_uc010xnd.2_Silent_p.F650F|CACNA1A_uc021ups.1_Silent_p.F650F|CACNA1A_uc010xne.2_Silent_p.F650F|CACNA1A_uc010dze.2_Silent_p.F650F|CACNA1A_uc021upt.1_Silent_p.F651F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 651 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.T649I(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAAAAGTATCGAAGTTGGTGG 0.557000 54 23 0 0 0.003954 0 0 KCNA6 3742 broad.mit.edu 37 12 4920731 4920731 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:4920731G>A uc001qng.3 + 0 2390 c.1524G>A c.(1522-1524)cgG>cgA p.R508R KCNA6_uc021qtr.1_Silent_p.R508R NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 508 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 ACCGGGAACGGAGACCCAGCT 0.612000 HNSCC(72;0.22) 44 20 0 0 0.010504 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559235 1559235 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:1559235G>A uc010gai.3 - 1 281 c.182C>T c.(181-183)cCt>cTt p.P61L SIRPB1_uc002wfk.4_Missense_Mutation_p.P61L NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 61 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGGCCCCACAGGGATCAGGGA 0.537000 56 23 0 0 0.002780 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709186 176709186 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:176709186C>T uc001gkz.3 + 13 5169 c.4005C>T c.(4003-4005)ttC>ttT p.F1335F PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1335 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L1334L(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATGTCCTTTTCCACCATACCA 0.483000 59 20 0 0 0.002299 0 0 OR6C3 254786 broad.mit.edu 37 12 55726161 55726161 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55726161C>T uc010spj.2 + 0 677 c.677C>T c.(676-678)cCg>cTg p.P226L NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TTGAGAATCCCGTCTGCCAGT 0.353000 28 13 0 0 0.001855 0 0 PDE3A 5139 broad.mit.edu 37 12 20832983 20832983 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:20832983G>A uc001reh.2 + 15 3244 c.3204G>A c.(3202-3204)agG>agA p.R1068R PDE3A_uc021qwa.1_Silent_p.R746R NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 1068 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTTTCAAAAGGAGAAAAATCT 0.358000 21 7 0 0 0.001984 0 0 FSIP2 401024 broad.mit.edu 37 2 186670720 186670720 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:186670720G>A uc002upl.3 + 16 16954 c.16954G>A c.(16954-16956)Gaa>Aaa p.E5652K FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TAATAATAATGAAATTGAGAA 0.269000 38 10 0 0 0.000978 0 0 CEACAM6 4680 broad.mit.edu 37 19 42266031 42266031 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:42266031C>T uc002orm.2 + 3 1007 c.858C>T c.(856-858)atC>atT p.I286I NM_002483 NP_002474 P40199 CEAM6_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA. 286 Ig-like C2-type 2. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) AGCTCTTTATCCCCAACATCA 0.488000 44 14 0 0 0.003163 0 0 SNTG2 54221 broad.mit.edu 37 2 1271191 1271191 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:1271191G>A uc002qwq.3 + 13 1261 c.1132G>A c.(1132-1134)Gat>Aat p.D378N SNTG2_uc010ewi.3_Missense_Mutation_p.D251N NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 378 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GGGTCTTCAAGATTTTGACTT 0.522000 11 4 0 0 0.009096 0 0 RDH16 8608 broad.mit.edu 37 12 57348915 57348915 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:57348915G>A uc001smi.4 - 1 519 c.347C>T c.(346-348)tCc>tTc p.S116F RDH16_uc009zpa.3_Intron NM_003708 NP_003699 O75452 RDH16_HUMAN Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA. 116 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CGTGGGCAAGGAGATGCCAGC 0.552000 16 7 0 0 0.001984 0 0 CYLC1 1538 broad.mit.edu 37 X 83129493 83129493 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:83129493G>A uc004eei.1 + 3 1798 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K CYLC1_uc004eeh.1_Missense_Mutation_p.E592K NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 593 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TGAAAAAGGGGAAAAAGCAAG 0.423000 2 12 0 0 0.000978 0 0 ZNF174 7727 broad.mit.edu 37 16 3454464 3454464 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3454464G>A uc002cvc.3 + 1 1256 c.441G>A c.(439-441)gaG>gaA p.E147E ZNF174_uc002cva.2_Silent_p.E147E|ZNF174_uc002cvb.3_Silent_p.E147E NM_003450 NP_003441 Q15697 ZN174_HUMAN Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA. 147 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 TGCTCTTGGAGAAAACTGGAT 0.527000 94 35 0 0 0.006999 0 0 RCN3 57333 broad.mit.edu 37 19 50045922 50045922 + Missense_Mutation SNP T G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:50045922T>G uc002poj.3 + 5 1239 c.792T>G c.(790-792)agT>agG p.S264R NM_020650 NP_065701 Q96D15 RCN3_HUMAN Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA. 264 EF-hand 5. endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) TGGATGGGAGTGAGGTGGGCC 0.677000 9 3 0 0 0.004672 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933284 43933284 + Missense_Mutation SNP C T T rs149931639 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:43933284C>T uc003bdy.2 - 28 4335 c.4021G>A c.(4021-4023)Ggg>Agg p.G1341R EFCAB6_uc003bdz.2_Missense_Mutation_p.G1189R|EFCAB6_uc010gzi.2_Missense_Mutation_p.G1189R NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 1341 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTGATGTCCCCCTGTCTGGCC 0.557000 77 24 0 0 0.006320 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439502 145439502 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:145439502C>T uc003lnt.3 + 8 1867 c.1629C>T c.(1627-1629)acC>acT p.T543T SH3RF2_uc011dbl.1_Silent_p.T543T|SH3RF2_uc011dbm.1_Silent_p.T28T|SH3RF2_uc003lnu.3_Silent_p.T34T|SH3RF2_uc011dbn.1_Silent_p.T34T|SH3RF2_uc011dbo.2_5'UTR NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 543 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGCCCCACCATGGTCCTTC 0.617000 34 17 0 0 0.004990 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392675 22392675 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:22392675T>C uc010aiz.2 + 1 273 c.198T>C c.(196-198)atT>atC p.I66I TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_Non-coding_Transcript SubName: Full=HADV14S1; Flags: Fragment; GGGAAATGATTTTTCTTATTT 0.443000 58 26 0 0 0.002445 0 0 MARK2 2011 broad.mit.edu 37 11 63670575 63670575 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:63670575C>T uc001nxw.3 + 13 2038 c.1459C>T c.(1459-1461)Cca>Tca p.P487S MARK2_uc001nxv.4_Missense_Mutation_p.P486S|MARK2_uc001nxx.3_Missense_Mutation_p.P487S|MARK2_uc001nxy.3_Missense_Mutation_p.P486S|MARK2_uc001nxz.4_Missense_Mutation_p.P453S|MARK2_uc009yoy.3_Missense_Mutation_p.P453S NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA. 487 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CAGGAATTCCCCACTTTTGGA 0.577000 66 26 0 0 0.002096 0 0 OBSCN 84033 broad.mit.edu 37 1 228528804 228528804 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228528804C>T uc009xez.1 + 72 17750 c.17706C>T c.(17704-17706)ttC>ttT p.F5902F OBSCN_uc001hsn.3_Silent_p.F5902F|OBSCN_uc001hsr.1_Silent_p.F531F NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5902 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGGCCACTTCATCGTGTGGG 0.682000 14 6 0 0 0.003080 0 0 AXDND1 126859 broad.mit.edu 37 1 179497464 179497464 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:179497464A>G uc001gmo.3 + 22 3000 c.2613A>G c.(2611-2613)caA>caG p.Q871Q AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.Q755Q|AXDND1_uc009wxh.3_Non-coding_Transcript NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 871 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TGTTCTAGCAACCTTCAACAT 0.443000 15 5 0 0 0.000602 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117776419 117776419 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:117776419C>T uc001prs.2 - 9 1461 c.1315G>A c.(1315-1317)Gga>Aga p.G439R TMPRSS13_uc009yzr.2_Missense_Mutation_p.G404R|TMPRSS13_uc021qrc.1_Missense_Mutation_p.G439R|TMPRSS13_uc001prt.1_Missense_Mutation_p.G118R NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA. 434 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) AAGGTCTGTCCATGCATGGGG 0.527000 6 4 0 0 0.000602 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687255 68687255 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:68687255G>A uc001jmz.1 + 1 1131 c.581G>A c.(580-582)cGa>cAa p.R194Q CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.R194Q NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA. 194 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AACCGGATCCGAAGTTTAGCC 0.468000 48 18 0 0 0.008871 0 0 MGAM 8972 broad.mit.edu 37 7 141708471 141708471 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:141708471G>A uc003vwy.3 + 2 347 c.293G>A c.(292-294)cGa>cAa p.R98Q NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 98 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R98Q(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAATTGGAACGAATTAATTGC 0.403000 32 14 0 0 0.004007 0 0 CRISP2 7180 broad.mit.edu 37 6 49668450 49668450 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:49668450C>T uc003ozn.2 - 4 350 c.114G>A c.(112-114)agG>agA p.R38R CRISP2_uc003ozr.2_Silent_p.R38R|CRISP2_uc003ozo.2_Silent_p.R38R|CRISP2_uc003ozm.2_Silent_p.R38R|CRISP2_uc003ozp.2_Silent_p.R38R|CRISP2_uc003ozq.2_Silent_p.R38R|CRISP2_uc003ozl.2_Silent_p.R38R NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 38 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTACAATCTCCCTTTGCACTT 0.363000 39 14 0 0 0.002450 0 0 PRSS35 167681 broad.mit.edu 37 6 84233438 84233438 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:84233438G>A uc003pjz.3 + 1 518 c.278G>A c.(277-279)cGa>cAa p.R93Q PRSS35_uc010kbm.3_Missense_Mutation_p.R93Q|PRSS35_uc021zce.1_Missense_Mutation_p.R93Q NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 93 proteolysis extracellular region serine-type endopeptidase activity p.R93R(1) breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) AATGGCACCCGAACCTTAACC 0.453000 37 8 0 0 0.004482 0 0 SLC1A6 6511 broad.mit.edu 37 19 15067400 15067400 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15067400G>A uc002naa.1 - 5 1064 c.1057C>T c.(1057-1059)Cat>Tat p.H353Y SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.H289Y NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 353 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ATGCCGGCATGGAGGAACAGG 0.587000 23 19 0 0 0.007413 0 0 ZNF471 57573 broad.mit.edu 37 19 57037299 57037299 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:57037299T>C uc002qnh.3 + 4 1996 c.1863T>C c.(1861-1863)caT>caC p.H621H NM_020813 NP_065864 Q9BX82 ZN471_HUMAN Homo sapiens zinc finger protein 471 (ZNF471), mRNA. 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AAAGAAGTCATACTGGAGAAG 0.413000 13 7 0 0 0.003080 0 0 ASZ1 136991 broad.mit.edu 37 7 117003787 117003787 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:117003787C>T uc003vjb.2 - 12 1354 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K ASZ1_uc011kno.1_Missense_Mutation_p.E422K|ASZ1_uc011knp.1_Missense_Mutation_p.E223K NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA. 431 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) GGATCATTTTCCCGTTCATTT 0.284000 18 6 0 0 0.001168 0 0 IRF7 3665 broad.mit.edu 37 11 613290 613290 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:613290C>T uc001lqg.3 - 6 1602 c.1192G>A c.(1192-1194)Ggc>Agc p.G398S IRF7_uc009ycb.3_Missense_Mutation_p.G279S|IRF7_uc010qwf.2_Missense_Mutation_p.G384S|IRF7_uc001lqf.3_Missense_Mutation_p.G92S|IRF7_uc010qwg.2_Missense_Mutation_p.G92S|IRF7_uc001lqh.3_Missense_Mutation_p.G385S|IRF7_uc001lqi.3_Missense_Mutation_p.G356S|IRF7_uc010qwh.2_Missense_Mutation_p.G92S NM_004031 NP_004022 Q92985 IRF7_HUMAN Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA. 385 MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGCGGAGCCTGGGGGTCCG 0.672000 23 16 0 0 0.004007 0 0 HLA-G 3135 broad.mit.edu 37 6 29796437 29796437 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:29796437T>C uc003nnw.2 + 3 639 c.461T>C c.(460-462)cTg>cCg p.L154P HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Missense_Mutation_p.L126P|HLA-G_uc003raj.3_Missense_Mutation_p.L159P|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA. 154 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity p.L154fs*60(1) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 AACGAGGACCTGCGCTCCTGG 0.622000 78 19 0 0 0.007413 0 0 ZNF222 7673 broad.mit.edu 37 19 44536578 44536578 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:44536578C>T uc002oye.3 + 3 966 c.871C>T c.(871-873)Cat>Tat p.H291Y ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Missense_Mutation_p.H251Y|ZNF222_uc002oyd.3_Missense_Mutation_p.H197Y NM_001129996 NP_001123468 Q9UK12 ZN222_HUMAN Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) TCACAGAATTCATACTGGGGA 0.393000 44 24 0 0 0.003954 0 0 PI4KA 5297 broad.mit.edu 37 22 21088121 21088122 + Silent DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:21088121_21088122GG>AA uc002zsz.4 - 34 4149_4150 c.3888_3889CC>TT c.(3886-3891)accctg>acTTtg p.1296_1297TL>TL PI4KA_uc002zsy.4_Silent_p.106_107TL>TL NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 1296 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GACAGCCCCAGGGTCAGCAGCC 0.584000 54 23 0 0 0.004672 0 0 ZNF366 167465 broad.mit.edu 37 5 71756160 71756160 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:71756160C>T uc003kce.1 - 1 1350 c.1164G>A c.(1162-1164)cgG>cgA p.R388R NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGATGGGGCCCCGGTGCGTGG 0.612000 33 14 0 0 0.001855 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242503 87242503 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:87242503C>T uc003ydq.1 - 0 102 c.4G>A c.(4-6)Gat>Aat p.D2N SLC7A13_uc003ydr.1_Missense_Mutation_p.D2N NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 2 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TCCCCTCTATCCATTGTAATT 0.343000 24 13 0 0 0.003163 0 0 CD163L1 283316 broad.mit.edu 37 12 7559373 7559373 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:7559373C>T uc010sge.2 - 4 898 c.872G>A c.(871-873)gGa>gAa p.G291E CD163L1_uc001qsy.3_Missense_Mutation_p.G281E NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 281 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCCCCACCTTCCTTGGATTTT 0.478000 56 19 0 0 0.008871 0 0 C1orf109 54955 broad.mit.edu 37 1 38155297 38155298 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:38155297_38155298CC>AT uc010oig.2 - 1 549_550 c.444_445GG>AT c.(442-447)ctggac>ctATac p.D149Y C1orf109_uc001cbo.3_Missense_Mutation_p.D148Y|C1orf109_uc001cbp.3_Missense_Mutation_p.D86Y|C1orf109_uc001cbq.1_Intron|CDCA8_uc001cbr.3_5'Flank|CDCA8_uc001cbs.3_5'Flank NM_017850 NP_060320 Q9NX04 CA109_HUMAN Homo sapiens chromosome 1 open reading frame 109 (C1orf109), mRNA. 86 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) CCTAGCTTGTCCAGGACGATGT 0.520000 69 30 0 0 0.004672 0 0 NF1 4763 broad.mit.edu 37 17 29559743 29559743 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:29559743T>A uc002hgg.3 + 25 3723 c.3340T>A c.(3340-3342)Ttg>Atg p.L1114M NF1_uc002hgh.3_Missense_Mutation_p.L1114M|NF1_uc010csn.2_Missense_Mutation_p.L974M|NF1_uc002hgi.1_Missense_Mutation_p.L147M NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1114 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TATGAACCTTTTGAATGACTG 0.433000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 11 6 0 0 0.001168 0 0 COL20A1 57642 broad.mit.edu 37 20 61939340 61939340 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:61939340G>A uc011aau.2 + 6 773 c.673G>A c.(673-675)Ggg>Agg p.G225R COL20A1_uc011aav.2_Missense_Mutation_p.G46R NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 225 VWFA. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TCAGTACAGCGGGGATGCTCA 0.632000 26 7 0 0 0.001984 0 0 MST1R 4486 broad.mit.edu 37 3 49928029 49928029 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49928029G>A uc003cxy.4 - 17 3963 c.3699C>T c.(3697-3699)atC>atT p.I1233I MST1R_uc011bdc.2_Silent_p.I1184I NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 1233 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding p.D1232D(2) cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCCTGTCCAGGATGTCGCGGG 0.552000 23 8 0 0 0.006214 0 0 LCE1A 353131 broad.mit.edu 37 1 152800131 152800131 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152800131C>T uc010pdw.2 + 0 183 c.183C>T c.(181-183)agC>agT p.S61S NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN Homo sapiens late cornified envelope 1A (LCE1A), mRNA. 61 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCGGCTGCAGCTCTGGGGGAG 0.677000 48 6 0 0 0.001984 0 0 DSP 1832 broad.mit.edu 37 6 7581388 7581388 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:7581388G>A uc003mxp.1 + 22 5244 c.4965G>A c.(4963-4965)agG>agA p.R1655R DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1655 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGAGCTGAGGAGGCTCTCTT 0.552000 81 25 0 0 0.003954 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45945705 45945705 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:45945705G>A uc001nbv.1 + 4 480 c.369_splice c.e4-1 p.R123_splice GYLTL1B_uc001nbw.1_Splice_Site_p.R92_splice|GYLTL1B_uc001nbx.1_Splice_Site_p.R123_splice NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA. 123 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) CACCCAAAAGGAAAAATCCAC 0.597000 25 17 0 0 0.007413 0 0 TMEM135 65084 broad.mit.edu 37 11 87032329 87032329 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:87032329C>T uc001pch.3 + 14 1533 c.1331C>T c.(1330-1332)cCa>cTa p.P444L TMEM135_uc010rtt.2_Missense_Mutation_p.P305L|TMEM135_uc001pci.3_Missense_Mutation_p.P422L NM_022918 NP_075069 Q86UB9 TM135_HUMAN Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA. 444 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGTTGGATCCAAGATACACA 0.373000 31 7 0 0 0.006214 0 0 MLXIPL 51085 broad.mit.edu 37 7 73011984 73011984 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:73011984G>A uc003tyn.1 - 8 1179 c.1131C>T c.(1129-1131)ctC>ctT p.L377L MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Silent_p.L377L|MLXIPL_uc003tym.1_Silent_p.L377L|MLXIPL_uc003tyl.1_Silent_p.L377L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.L284L|MLXIPL_uc003tyq.1_Silent_p.L119L NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 377 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) CTTCAGGAAGGAGGAAATCAG 0.652000 18 8 0 0 0.004482 0 0 CD109 135228 broad.mit.edu 37 6 74512972 74512972 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74512972G>A uc003php.3 + 23 3339 c.2908G>A c.(2908-2910)Gaa>Aaa p.E970K CD109_uc003phq.3_Missense_Mutation_p.E970K|CD109_uc010kba.3_Missense_Mutation_p.E893K NM_133493 NP_598000 Q6YHK3 CD109_HUMAN Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. 970 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTATCAGAGGGAAGATGGCTC 0.393000 56 11 0 0 0.002450 0 0 VPS13A 23230 broad.mit.edu 37 9 79936611 79936611 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:79936611C>T uc004akr.3 + 43 6039 c.5779C>T c.(5779-5781)Cat>Tat p.H1927Y VPS13A_uc004akp.4_Missense_Mutation_p.H1927Y|VPS13A_uc004akq.4_Missense_Mutation_p.H1927Y|VPS13A_uc004aks.3_Missense_Mutation_p.H1888Y|VPS13A_uc004akt.3_Missense_Mutation_p.H267Y NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 1927 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGACAATGATCATTTCAATGC 0.328000 34 10 0 0 0.008291 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508003 37508003 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:37508003G>A uc021ppc.1 + 33 3294 c.3195G>A c.(3193-3195)ctG>ctA p.L1065L ANKRD30A_uc001iza.1_Silent_p.L1065L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1121 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAGCCACACTGAAACACCAAT 0.323000 39 12 0 0 0.000978 0 0 PLCD3 113026 broad.mit.edu 37 17 43196366 43196366 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:43196366G>A uc002iib.3 - 4 843 c.729C>T c.(727-729)atC>atT p.I243I NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA. 243 EF-hand 2. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GGAACTCCTCGATCTCAGCCC 0.642000 7 5 0 0 0.001168 0 0 PTPN5 84867 broad.mit.edu 37 11 18754168 18754168 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:18754168C>T uc001mpd.3 - 11 1731 c.1300G>A c.(1300-1302)Gat>Aat p.D434N PTPN5_uc001mpb.3_Missense_Mutation_p.D402N|PTPN5_uc001mpc.3_Missense_Mutation_p.D434N|PTPN5_uc010rdj.2_Missense_Mutation_p.D378N|PTPN5_uc001mpf.3_Missense_Mutation_p.D410N|PTPN5_uc001mpe.3_Missense_Mutation_p.D402N|PTPN5_uc010rdk.2_Missense_Mutation_p.D379N NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 434 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 AGCCGGTAATCCTCCGTGTGA 0.587000 OREG0020824 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 92 40 0 0 0.003214 0 0 COBLL1 22837 broad.mit.edu 37 2 165551054 165551054 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:165551054G>A uc002ucp.3 - 11 3184 c.2962C>T c.(2962-2964)Ccc>Tcc p.P988S COBLL1_uc002ucq.3_Missense_Mutation_p.P950S|COBLL1_uc010zcw.2_Missense_Mutation_p.P1055S|COBLL1_uc010zcx.2_Missense_Mutation_p.P996S|COBLL1_uc002ucn.3_Missense_Mutation_p.P416S|COBLL1_uc002uco.3_Missense_Mutation_p.P719S NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 1026 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GGAGCTATGGGAGGAGGGGAG 0.463000 32 13 0 0 0.002450 0 0 DOPEY1 23033 broad.mit.edu 37 6 83834472 83834472 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:83834472C>T uc011dyy.2 + 12 1622 c.1362C>T c.(1360-1362)gaC>gaT p.D454D DOPEY1_uc003pjs.1_Silent_p.D463D|DOPEY1_uc010kbl.1_Silent_p.D454D NM_001199942 NP_001186871 Q5JWR5 DOP1_HUMAN Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA. 463 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) ATAGTAATGACTCATCTGAAT 0.368000 82 23 0 0 0.004656 0 0 GALNT14 79623 broad.mit.edu 37 2 31133921 31133921 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:31133921C>T uc002rns.3 - 15 2160 c.1520G>A c.(1519-1521)tGg>tAg p.W507* GALNT14_uc002rnq.3_Nonsense_Mutation_p.W482*|GALNT14_uc010ymr.2_Nonsense_Mutation_p.W467*|GALNT14_uc002rnr.3_Nonsense_Mutation_p.W502* NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 502 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) AGTTTTGGTCCATTGCTGGTA 0.493000 44 22 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179494052 179494052 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179494052C>T uc021vsy.1 - 188 36921 c.36696G>A c.(36694-36696)ggG>ggA p.G12232G MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5927G|TTN_uc021vta.1_Silent_p.G5860G|TTN_uc021vtb.1_Silent_p.G5735G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13159 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) CTAGTTTCTTCCCTTTGAGAT 0.478000 16 9 0 0 0.004482 0 0 ANGPT4 51378 broad.mit.edu 37 20 865741 865741 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:865741C>T uc002wei.3 - 3 918 c.815G>A c.(814-816)aGg>aAg p.R272K ANGPT4_uc010zpn.2_Missense_Mutation_p.R266K NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 272 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GGCGTTAGCCCTTTCTTGCAC 0.682000 13 3 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9072184 9072184 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9072184C>T uc002mkp.3 - 2 15466 c.15262G>A c.(15262-15264)Gaa>Aaa p.E5088K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5090 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCACAGGTTCCAAGCGTGTA 0.423000 89 33 0 0 0.004878 0 0 CPZ 8532 broad.mit.edu 37 4 8602878 8602878 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8602878C>T uc003glm.3 + 2 324 c.150C>T c.(148-150)acC>acT p.T50T CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T39T|CPZ_uc003gln.3_5'UTR NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 50 FZ. Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.L48fs*58(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGCTCAGGACCTGCAGTGATG 0.632000 17 7 0 0 0.003080 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763835 110763835 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:110763835C>T uc003puf.3 - 3 862 c.795G>A c.(793-795)agG>agA p.R265R SLC22A16_uc003pue.3_Silent_p.R246R NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 265 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GCCACCAGGTCCTGACCAAGT 0.507000 57 20 0 0 0.002299 0 0 NDST3 9348 broad.mit.edu 37 4 119161732 119161732 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:119161732G>A uc003ibx.3 + 10 2575 c.2172G>A c.(2170-2172)gtG>gtA p.V724V NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 724 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TCTACGAAGTGATCTCAGCAG 0.502000 24 16 0 0 0.004990 0 0 SLC30A8 169026 broad.mit.edu 37 8 118174004 118174004 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:118174004C>T uc003yoh.3 + 4 830 c.600C>T c.(598-600)tgC>tgT p.C200C SLC30A8_uc010mcz.3_Silent_p.C151C|SLC30A8_uc003yog.3_Silent_p.C151C|SLC30A8_uc011lia.2_Silent_p.C151C|SLC30A8_uc022bab.1_Silent_p.C151C|Metazoa_SRP_uc022bac.1_5'Flank NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 200 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.R199*(1)|p.R199T(1) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ACCAGAGATGCCTTGGCCACA 0.443000 188 69 0 0 0.003610 0 0 CACNA1A 773 broad.mit.edu 37 19 13365981 13365981 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:13365981G>A uc002mwy.3 - 28 4919 c.4683C>T c.(4681-4683)ttC>ttT p.F1561F CACNA1A_uc002mwx.3_Silent_p.F267F|CACNA1A_uc010dzc.2_Silent_p.F1087F|CACNA1A_uc010xnd.2_Silent_p.F1564F|CACNA1A_uc021ups.1_Silent_p.F1561F|CACNA1A_uc010xne.2_Silent_p.F1564F|CACNA1A_uc010dze.2_Silent_p.F1561F|CACNA1A_uc021upt.1_Silent_p.F1562F|CACNA1A_uc002mwv.3_Silent_p.F78F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1562 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.F1562F(3) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGACACCACGAACTGCCACA 0.587000 24 15 0 0 0.004007 0 0 KIF17 57576 broad.mit.edu 37 1 21014262 21014262 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:21014262G>A uc001bdr.4 - 7 1675 c.1557C>T c.(1555-1557)tcC>tcT p.S519S KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.S519S NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 519 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCGCAAACCTGGAGGAAACCT 0.542000 45 18 0 0 0.007413 0 0 EFR3A 23167 broad.mit.edu 37 8 132996524 132996524 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:132996524A>G uc003yte.3 + 14 1918 c.1714A>G c.(1714-1716)Att>Gtt p.I572V NM_015137 NP_055952 Q14156 EFR3A_HUMAN Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA. 572 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TATTGATCTCATTCGACTGGC 0.348000 53 22 0 0 0.002780 0 0 MUSK 4593 broad.mit.edu 37 9 113496631 113496631 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:113496631C>T uc022blv.1 + 5 863 c.729C>T c.(727-729)atC>atT p.I243I MUSK_uc022blt.1_Silent_p.I243I|MUSK_uc004bez.2_Silent_p.I253I|MUSK_uc022blu.1_Silent_p.I243I NM_005592 NP_005583 O15146 MUSK_HUMAN Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA. 243 Ig-like 3. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TCCCCACCATCACCTGGATTG 0.507000 49 27 0 0 0.008361 0 0 TCEA2 6919 broad.mit.edu 37 20 62699406 62699406 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:62699406C>T uc021wgq.1 + 3 904 c.248C>T c.(247-249)tCc>tTc p.S83F TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.S56F|TCEA2_uc010gku.2_Intron NM_003195 NP_942016 Q15560 TCEA2_HUMAN Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA. 83 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GCAGATGCTTCCGATGCCAAA 0.647000 33 11 0 0 0.001855 0 0 RNF180 285671 broad.mit.edu 37 5 63509989 63509989 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:63509989C>T uc003jti.3 + 3 946 c.836C>T c.(835-837)tCc>tTc p.S279F RNF180_uc003jth.4_Missense_Mutation_p.S279F|RNF180_uc010iws.3_Intron NM_001113561 NP_001107033 Q86T96 RN180_HUMAN Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA. 279 integral to membrane|nuclear envelope zinc ion binding p.Y278N(1) breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) AATAGCTATTCCTTTCAGAAT 0.403000 41 15 0 0 0.006122 0 0 HM13 81502 broad.mit.edu 37 20 30142557 30142557 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:30142557C>T uc002wwc.3 + 7 847 c.733C>T c.(733-735)Ccc>Tcc p.P245S HM13_uc002wwd.3_Missense_Mutation_p.P245S|HM13_uc002wwe.3_Missense_Mutation_p.P245S|HM13_uc002wwf.3_Missense_Mutation_p.P121S NM_178581 NP_848696 Q8TCT9 HM13_HUMAN Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA. 245 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AGTGGTGTTTCCCCAGGATCT 0.532000 33 15 0 0 0.004007 0 0 DMXL1 1657 broad.mit.edu 37 5 118485868 118485868 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:118485868C>T uc010jcl.1 + 17 4527 c.4346C>T c.(4345-4347)aCt>aTt p.T1449I DMXL1_uc003ksd.2_Missense_Mutation_p.T1449I|DMXL1_uc021ycw.1_Missense_Mutation_p.T1276I NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 1449 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTTTTTCAGACTCAACTTCTA 0.338000 24 9 0 0 0.004482 0 0 PRDM8 56978 broad.mit.edu 37 4 81123399 81123399 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:81123399C>T uc010ijo.3 + 7 1622 c.783C>T c.(781-783)ttC>ttT p.F261F PRDM8_uc003hmb.4_Silent_p.F261F|PRDM8_uc003hmc.4_Silent_p.F261F NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA. 261 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CCACAGACTTCCACAACCTGG 0.716000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 19 0 0 0.001882 0 0 ASXL3 80816 broad.mit.edu 37 18 31323549 31323549 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:31323549C>T uc010dmg.1 + 11 3792 c.3737C>T c.(3736-3738)tCg>tTg p.S1246L ASXL3_uc002kxq.2_Missense_Mutation_p.S953L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTGCTATATCGGGAGCAATT 0.368000 35 8 0 0 0.004482 0 0 FCRL1 115350 broad.mit.edu 37 1 157771861 157771861 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:157771861G>A uc001frg.3 - 4 843 c.730C>T c.(730-732)Cac>Tac p.H244Y FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.H244Y|FCRL1_uc001fri.3_Missense_Mutation_p.H244Y|FCRL1_uc001frj.3_Non-coding_Transcript NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA. 244 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.H244N(3) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATATCCTCGTGATAAAACCAG 0.582000 28 13 0 0 0.001855 0 0 FLG2 388698 broad.mit.edu 37 1 152326877 152326877 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152326877C>T uc001ezw.4 - 2 3458 c.3385G>A c.(3385-3387)Gga>Aga p.G1129R AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1129 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGTCCAAAGCCAGAA 0.522000 110 53 0 0 0.003610 0 0 TLR10 81793 broad.mit.edu 37 4 38775011 38775011 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:38775011G>A uc003gtj.3 - 3 2839 c.2201C>T c.(2200-2202)cCa>cTa p.P734L TLR10_uc021xnk.1_Missense_Mutation_p.P720L|TLR10_uc003gti.3_Missense_Mutation_p.P734L|TLR10_uc021xnl.1_Missense_Mutation_p.P734L|TLR10_uc003gtk.3_Missense_Mutation_p.P734L|TLR10_uc021xnm.1_Missense_Mutation_p.P734L NM_030956 NP_001182037 Q9BXR5 TLR10_HUMAN Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA. 734 TIR. MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GCAATAGAATGGAATGGGTTC 0.403000 30 19 0 0 0.002780 0 0 AOC3 8639 broad.mit.edu 37 17 41006581 41006581 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:41006581G>A uc002ibv.3 + 1 1877 c.1717G>A c.(1717-1719)Gag>Aag p.E573K NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 573 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GGAGATGGAGGAGCAGGCCGC 0.657000 27 22 0 0 0.001882 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068513 103068513 + Missense_Mutation SNP C T T rs149244380 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:103068513C>T uc002tbx.3 + 11 2156 c.1672C>T c.(1672-1674)Cac>Tac p.H558Y IL18RAP_uc010fiz.3_Missense_Mutation_p.H416Y NM_003853 NP_003844 O95256 I18RA_HUMAN Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA. 558 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AATGCGCTACCACATGCCTGT 0.458000 76 46 0 0 0.003610 0 0 POM121 9883 broad.mit.edu 37 7 72413768 72413768 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:72413768C>T uc003twk.2 + 10 3236 c.3236C>T c.(3235-3237)aCc>aTc p.T1079I POM121_uc003twj.3_Missense_Mutation_p.T814I|POM121_uc010lam.1_Missense_Mutation_p.T814I NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 1079 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACCACCCAGACCGCCAGCAGC 0.672000 22 10 0 0 0.008291 0 0 CCDC111 201973 broad.mit.edu 37 4 185603437 185603437 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:185603437C>T uc003iwk.2 + 8 1476 c.1043C>T c.(1042-1044)cCa>cTa p.P348L CCDC111_uc003iwj.2_Missense_Mutation_p.P348L|CCDC111_uc003iwm.2_Missense_Mutation_p.P219L|CCDC111_uc003iwn.2_Intron NM_152683 NP_689896 Q96LW4 CC111_HUMAN Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA. 348 DNA replication, synthesis of RNA primer DNA primase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2) 16 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) ACATGTGAGCCATCTCAGAAT 0.358000 18 5 0 0 0.001984 0 0 AKR1D1 6718 broad.mit.edu 37 7 137801379 137801379 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:137801379C>T uc003vtz.3 + 8 1039 c.952C>T c.(952-954)Cct>Tct p.P318S AKR1D1_uc011kqf.2_Missense_Mutation_p.P277S|AKR1D1_uc011kqe.1_Missense_Mutation_p.S290F|AKR1D1_uc010lmy.1_Non-coding_Transcript NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 318 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 GCGCGATCATCCTGAATACCC 0.448000 75 31 0 0 0.003271 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16952555 16952555 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrY:16952555C>T uc011nas.1 + 6 2103 c.1924C>T c.(1924-1926)Ccc>Tcc p.P642S NLGN4Y_uc004fte.2_Missense_Mutation_p.P454S|NLGN4Y_uc004ftg.2_Missense_Mutation_p.P622S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.P315S|NLGN4Y_uc004fth.2_Missense_Mutation_p.P622S NM_001206850 NP_001193779 Q8NFZ3 NLGNY_HUMAN Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA. 622 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 GACATCATTTCCCTATGGCAC 0.483000 11 35 0 0 0.003214 0 0 HLA-C 3107 broad.mit.edu 37 6 31323234 31323234 + Missense_Mutation SNP G A A rs41557013 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:31323234G>A uc003nth.2 - 3 809 c.755C>T c.(754-756)aCt>aTt p.T252I HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Missense_Mutation_p.T131I|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript NM_005514 NP_005505 Q9TNN7 1C05_HUMAN Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA. 252 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CACAAGCTCAGTGTCCTGAGT 0.577000 66 13 0 0 0.002450 0 0 MCTP1 79772 broad.mit.edu 37 5 94134766 94134766 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:94134766C>T uc003kkx.2 - 17 2508 c.2508G>A c.(2506-2508)tgG>tgA p.W836* MCTP1_uc003kkv.2_Nonsense_Mutation_p.W615*|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Nonsense_Mutation_p.W497*|MCTP1_uc003kku.2_Nonsense_Mutation_p.W352* NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 836 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AGAAGTAGTTCCATGTCAATA 0.388000 19 6 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9061224 9061224 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9061224G>A uc002mkp.3 - 2 26426 c.26222C>T c.(26221-26223)tCc>tTc p.S8741F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8743 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGTTCTGGAGACCTTAGT 0.483000 26 9 0 0 0.006214 0 0 OR4C13 283092 broad.mit.edu 37 11 49974138 49974138 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:49974138C>T uc010rhz.2 + 0 196 c.164C>T c.(163-165)tCc>tTc p.S55F NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S55S(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TCACTGAGATCCCCCATGTAC 0.428000 100 48 0 0 0.003610 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033105 20033105 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:20033105G>A uc002wrs.3 - 1 397 c.365C>T c.(364-366)cCg>cTg p.P122L C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.P110L NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA. 122 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AACCGGAAGCGGAACTTGCAG 0.597000 43 19 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179599705 179599705 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179599705G>A uc021vsy.1 - 47 11439 c.11214C>T c.(11212-11214)tcC>tcT p.S3738S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S399S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4665 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) TCTTCACGAAGGATGGTGGCT 0.423000 7 3 0 0 0.004672 0 0 SCN1A 6323 broad.mit.edu 37 2 166904164 166904164 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166904164C>T uc002udo.4 - 9 1370 c.1143G>A c.(1141-1143)caG>caA p.Q381Q SCN1A_uc010fpk.3_Silent_p.Q381Q|SCN1A_uc021vsb.1_Silent_p.Q381Q NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 381 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCCAGAAGTCCTGAGTCATTA 0.358000 52 17 0 0 0.004007 0 0 CDH18 1016 broad.mit.edu 37 5 19483617 19483617 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:19483617T>C uc003jgd.3 - 11 2209 c.1675A>G c.(1675-1677)Act>Gct p.T559A CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.T559A|CDH18_uc021xwu.1_Intron NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 559 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R558L(1)|p.R558Q(1)|p.R558*(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCCTGAACAGTTCGACTAAAT 0.458000 12 5 0 0 0.000602 0 0 ERCC6 2074 broad.mit.edu 37 10 50666971 50666971 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:50666971A>G uc001jhs.4 - 20 4526 c.4372T>C c.(4372-4374)Tta>Cta p.L1458L ERCC6_uc009xod.3_Silent_p.L618L|ERCC6_uc010qgr.2_Silent_p.L828L|ERCC6_uc001jhr.4_Silent_p.L826L NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 1458 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GATGCAGATAACTTGGATTCA 0.478000 Direct reversal of damage;Nucleotide excision repair (NER) 44 15 0 0 0.003163 0 0 S100A2 6273 broad.mit.edu 37 1 153533975 153533975 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153533975G>A uc001fcb.3 - 2 572 c.234C>T c.(232-234)ttC>ttT p.F78F NM_005978 NP_005969 P29034 S10A2_HUMAN Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA. 79 EF-hand 2. endothelial cell migration calcium ion binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGAGTGCCAGGAAAACAGCAT 0.542000 100 23 0 0 0.003954 0 0 RALBP1 10928 broad.mit.edu 37 18 9533365 9533365 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:9533365C>T uc002kob.3 + 7 1711 c.1488C>T c.(1486-1488)ctC>ctT p.L496L RALBP1_uc002koc.3_Silent_p.L496L NM_006788 NP_006779 Q15311 RBP1_HUMAN Homo sapiens ralA binding protein 1 (RALBP1), mRNA. 496 Interacts with RalA. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 AGGAGGAGCTCCTGGCCATGG 0.468000 28 19 0 0 0.008871 0 0 CNTN6 27255 broad.mit.edu 37 3 1415290 1415290 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:1415290C>T uc003boz.3 + 14 2056 c.1789C>T c.(1789-1791)Cca>Tca p.P597S CNTN6_uc011asj.2_Missense_Mutation_p.P525S|CNTN6_uc003bpa.3_Missense_Mutation_p.P597S NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 597 Fibronectin type-III 1. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTTTCAAGGTCCACCAGGTCC 0.388000 28 9 0 0 0.004482 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382154 41382154 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41382154G>A uc003jmm.1 - 1 688 c.586C>T c.(586-588)Cat>Tat p.H196Y NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 196 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ACTGGACTATGGTAGAAGACC 0.498000 51 19 0 0 0.006122 0 0 NCAN 1463 broad.mit.edu 37 19 19334879 19334879 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:19334879C>T uc002nlz.3 + 3 624 c.525C>T c.(523-525)ttC>ttT p.F175F NCAN_uc010ecc.1_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 175 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.F175L(2)|p.F189L(1) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CACTGACCTTCGCTGAGGCCC 0.577000 34 17 0 0 0.001882 0 0 ATP1A2 477 broad.mit.edu 37 1 160090788 160090788 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160090788G>A uc001fvc.3 + 1 237 c.105G>A c.(103-105)aaG>aaA p.K35K ATP1A2_uc001fvb.2_Silent_p.K35K|ATP1A2_uc010piz.1_5'Flank NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 35 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCTGAAGAAGGAGGTGGCAA 0.607000 8 3 0 0 0.004672 0 0 LOXL3 84695 broad.mit.edu 37 2 74763204 74763204 + Missense_Mutation SNP C G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:74763204C>G uc002smp.1 - 6 1239 c.1167G>C c.(1165-1167)aaG>aaC p.K389N LOXL3_uc002smo.1_Missense_Mutation_p.K28N|LOXL3_uc010ffm.1_Missense_Mutation_p.K389N|LOXL3_uc002smq.1_Missense_Mutation_p.K244N|LOXL3_uc010ffn.1_Missense_Mutation_p.K244N NM_032603 NP_115992 P58215 LOXL3_HUMAN Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA. 389 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CTGTGATGTTCTTGTGGGGGC 0.567000 63 32 0 0 0.002445 0 0 TMEFF2 23671 broad.mit.edu 37 2 192863794 192863794 + Missense_Mutation SNP C T T rs149067350 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:192863794C>T uc002utc.3 - 5 1071 c.677G>A c.(676-678)cGa>cAa p.R226Q NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA. 226 Kazal-like 2. extracellular region|integral to membrane p.R226*(1) breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) ACCTTGACATCGACCCAAAGA 0.368000 51 16 0 0 0.004990 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152215 11152215 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:11152215C>T uc010dxp.3 + 30 4763 c.4403C>T c.(4402-4404)gCc>gTc p.A1468V SMARCA4_uc010dxo.3_Missense_Mutation_p.A1500V|SMARCA4_uc002mqf.4_Missense_Mutation_p.A1468V|SMARCA4_uc010dxq.3_Missense_Mutation_p.A1435V|SMARCA4_uc010dxr.3_Missense_Mutation_p.A1435V|SMARCA4_uc002mqj.4_Missense_Mutation_p.A1438V|SMARCA4_uc010dxs.3_Missense_Mutation_p.A1438V|SMARCA4_uc002mqh.4_Missense_Mutation_p.A558V NM_001128844 NP_003063 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA. 1468 chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATTGTGGATGCCGTGATCAAG 0.612000 """F, N, Mis""" NSCLC 22 11 0 0 0.001855 0 0 CDCA2 157313 broad.mit.edu 37 8 25343351 25343351 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:25343351C>T uc003xep.1 + 10 1919 c.1442C>T c.(1441-1443)tCa>tTa p.S481L DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S481L|CDCA2_uc003xeq.1_Missense_Mutation_p.S466L|CDCA2_uc003xer.1_Missense_Mutation_p.S144L NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 481 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GAGACCCTTTCAGGTAGTAAC 0.279000 18 8 0 0 0.004482 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140202658 140202658 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140202658C>T uc003lhl.2 + 0 1298 c.1298C>T c.(1297-1299)tCg>tTg p.S433L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.S433L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S433L NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 448 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.637000 90 36 0 0 0.005524 0 0 SEC62 7095 broad.mit.edu 37 3 169710486 169710486 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:169710486A>G uc003fgg.3 + 7 866 c.835A>G c.(835-837)Agg>Ggg p.R279G SEC62_uc003fgh.3_Missense_Mutation_p.R279G NM_003262 NP_003253 Q99442 SEC62_HUMAN Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA. 279 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 TGACTCCTTCAGGCCTCTGTA 0.423000 49 22 0 0 0.003330 0 0 NBEA 26960 broad.mit.edu 37 13 35733774 35733774 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:35733774G>A uc021rid.1 + 21 4000 c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K NBEA_uc021ric.1_Missense_Mutation_p.E1156K|NBEA_uc010abi.3_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 1156 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAAACAGGAGGAAAAACTACT 0.358000 10 3 0 0 0.004672 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895344 45895345 + Missense_Mutation DNP GG AA AA rs141349857 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:45895344_45895345GG>AA uc002pbn.3 - 7 1685_1686 c.1608_1609CC>TT c.(1606-1611)ccccct>ccTTct p.P537S PPP1R13L_uc002pbm.3_Missense_Mutation_p.P116S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P537S NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 537 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TTGTGGGTAGGGGGCAGGGCCA 0.683000 43 25 0 0 0.004672 0 0 DNAH10 196385 broad.mit.edu 37 12 124303737 124303737 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:124303737G>A uc001uft.4 + 21 3611 c.3586G>A c.(3586-3588)Gag>Aag p.E1196K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1196 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCAGATAGAGGAGTTTGCAAA 0.393000 12 5 0 0 0.000602 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651847 84651847 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:84651847G>A uc002bjz.4 + 20 3691 c.3467G>A c.(3466-3468)gGg>gAg p.G1156E ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1156E NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1156 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGGAAACAGGGAGTGTGTCC 0.547000 14 13 0 0 0.001368 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025448 16025448 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16025448C>T uc002nbu.2 - 10 1314 c.1278G>A c.(1276-1278)ggG>ggA p.G426G CYP4F11_uc010eab.1_Intron|CYP4F11_uc002nbt.2_Silent_p.G426G NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 426 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTAATGGATCCCGATAATAT 0.572000 41 28 0 0 0.009535 0 0 FAM82A1 151393 broad.mit.edu 37 2 38178549 38178549 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:38178549T>C uc002rqn.2 + 1 317 c.191T>C c.(190-192)tTa>tCa p.L64S FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA. 0 cytoplasm|integral to membrane|microtubule|spindle pole binding endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 13 AGTAGAAGGTTATTATCTGTA 0.358000 33 14 0 0 0.002450 0 0 DUSP27 92235 broad.mit.edu 37 1 167097024 167097024 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:167097024G>A uc001geb.1 + 4 2672 c.2656G>A c.(2656-2658)Gat>Aat p.D886N NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 886 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.D886V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGGTGATGGGGATGAGGACAC 0.498000 25 14 0 0 0.004007 0 0 STAB2 55576 broad.mit.edu 37 12 104102255 104102255 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:104102255C>T uc001tjw.3 + 38 4415 c.4229C>T c.(4228-4230)cCc>cTc p.P1410L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1410 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AACCAAGGACCCTTGGGAGAT 0.458000 63 32 0 0 0.003271 0 0 CYP7B1 9420 broad.mit.edu 37 8 65537059 65537059 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:65537059G>A uc003xvj.2 - 1 364 c.160C>T c.(160-162)Cct>Tct p.P54S NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 54 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) CCAAGATAAGGAAGCCAACCT 0.378000 61 17 0 0 0.008871 0 0 MICAL3 57553 broad.mit.edu 37 22 18300481 18300481 + Missense_Mutation SNP G T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:18300481G>T uc002zng.4 - 25 5299 c.4946C>A c.(4945-4947)tCc>tAc p.S1649Y MICAL3_uc011agl.2_Missense_Mutation_p.S1565Y|MICAL3_uc010gre.2_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1649 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GCGTGTGGGGGAGTCAGGCCG 0.711000 17 9 1.33987e-11 1.36973e-11 0.008291 1 0 OR2M5 127059 broad.mit.edu 37 1 248308892 248308892 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:248308892C>T uc010pze.2 + 0 443 c.443C>T c.(442-444)tCc>tTc p.S148F NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACTGCCTTCTCCTGGATCCTG 0.458000 137 40 0 0 0.006230 0 0 LGMN 5641 broad.mit.edu 37 14 93178215 93178216 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:93178215_93178216CC>TT uc001yav.3 - 9 1056_1057 c.695_696GG>AA c.(694-696)tgg>tAA p.W232* LGMN_uc001yat.3_Nonsense_Mutation_p.W232*|LGMN_uc001yau.3_Nonsense_Mutation_p.W232*|LGMN_uc001yaw.3_Nonsense_Mutation_p.W232* NM_001008530 NP_005597 Q99538 LGMN_HUMAN Homo sapiens legumain (LGMN), transcript variant 2, mRNA. 232 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TGACGCTGTACCAGTCCCCCAG 0.525000 22 15 0 0 0.004672 0 0 PTGS1 5742 broad.mit.edu 37 9 125152608 125152608 + Silent SNP C T T rs3842800 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125152608C>T uc004bmg.1 + 9 1563 c.1428C>T c.(1426-1428)tcC>tcT p.S476S PTGS1_uc011lys.1_Silent_p.S414S|PTGS1_uc010mwb.1_Silent_p.S330S|PTGS1_uc004bmf.1_Silent_p.S439S|PTGS1_uc004bmh.1_Silent_p.S367S|PTGS1_uc011lyt.1_Silent_p.S367S NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 476 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) CCTACACCTCCTTCCAGGAGC 0.557000 23 7 0 0 0.003080 0 0 BCL11A 53335 broad.mit.edu 37 2 60688266 60688266 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:60688266G>A uc002sae.1 - 3 2009 c.1781C>T c.(1780-1782)tCg>tTg p.S594L BCL11A_uc002sab.3_Missense_Mutation_p.S594L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.S263L|BCL11A_uc010ypj.2_Missense_Mutation_p.S560L|BCL11A_uc002sad.1_Missense_Mutation_p.S442L|BCL11A_uc002saf.1_Missense_Mutation_p.S560L NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 594 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TATGCGGTCCGACTCGCCGGC 0.692000 T IGH@ B-CLL 108 55 0 0 0.003610 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47115627 47115627 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:47115627C>T uc002iom.3 + 5 833 c.499C>T c.(499-501)Cgc>Tgc p.R167C IGF2BP1_uc010dbj.3_Intron NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 167 CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGAGAATGGGCGCCGAGGGGG 0.637000 53 13 0 0 0.004007 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814062 106814062 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:106814062C>T uc003ymd.3 + 7 1775 c.1752C>T c.(1750-1752)ttC>ttT p.F584F ZFPM2_uc011lhs.2_Silent_p.F315F NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 584 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCCAGAGTTCCCTAGTGTGT 0.443000 78 42 0 0 0.003610 0 0 CDCA7L 55536 broad.mit.edu 37 7 21942684 21942684 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:21942684G>A uc010kuk.3 - 8 1366 c.1246C>T c.(1246-1248)Cgg>Tgg p.R416W CDCA7L_uc003sve.4_Missense_Mutation_p.R382W|CDCA7L_uc010kul.3_Missense_Mutation_p.R370W|CDCA7L_uc003svf.4_Missense_Mutation_p.R415W NM_018719 NP_001120842 Q96GN5 CDA7L_HUMAN Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA. 416 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus p.R416L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 TCACGCTTCCGACAGTAGCTG 0.493000 18 9 0 0 0.004482 0 0 VPS13A 23230 broad.mit.edu 37 9 79933473 79933473 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:79933473C>T uc004akr.3 + 40 5539 c.5279C>T c.(5278-5280)tCc>tTc p.S1760F VPS13A_uc004akp.4_Missense_Mutation_p.S1760F|VPS13A_uc004akq.4_Missense_Mutation_p.S1760F|VPS13A_uc004aks.3_Missense_Mutation_p.S1721F|VPS13A_uc004akt.3_Missense_Mutation_p.S100F|VPS13A_uc010mpo.1_Missense_Mutation_p.S356F NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 1760 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AACTGGAGTTCCCTAATAAAT 0.358000 19 8 0 0 0.003080 0 0 OR2M5 127059 broad.mit.edu 37 1 248308834 248308834 + Missense_Mutation SNP C T T rs150844237 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:248308834C>T uc010pze.2 + 0 385 c.385C>T c.(385-387)Cct>Tct p.P129S NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P129H(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CATTTGCCACCCTCTAAGATA 0.443000 160 46 0 0 0.003610 0 0 OR13G1 441933 broad.mit.edu 37 1 247835886 247835886 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247835886G>A uc001idi.1 - 0 458 c.458C>T c.(457-459)tCc>tTc p.S153F NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGCACCCAGGAATTGGTGAC 0.463000 31 9 0 0 0.004482 0 0 KIAA0564 23078 broad.mit.edu 37 13 42393512 42393512 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:42393512G>A uc001uyj.3 - 14 1781 c.1711C>T c.(1711-1713)Cct>Tct p.P571S KIAA0564_uc001uyk.3_Missense_Mutation_p.P571S NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 571 extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GGATGGATAGGAAAAATGGAT 0.388000 21 8 0 0 0.003080 0 0 KRT82 3888 broad.mit.edu 37 12 52799831 52799831 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52799831G>A uc001sai.1 - 0 346 c.231C>T c.(229-231)ggC>ggT p.G77G NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN Homo sapiens keratin 82 (KRT82), mRNA. 77 Head. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GGTACCCGAAGCCAGGCAGGG 0.657000 26 15 0 0 0.002450 0 0 ARMC4 55130 broad.mit.edu 37 10 28272855 28272855 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:28272855C>T uc009xky.3 - 5 834 c.736G>A c.(736-738)Gaa>Aaa p.E246K ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.E246K|ARMC4_uc010qdu.1_5'Flank NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 246 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TAACAAATTTCCCCACGAATT 0.393000 20 12 0 0 0.001368 0 0 ZNF799 90576 broad.mit.edu 37 19 12502345 12502346 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:12502345_12502346GG>AA uc010dyt.3 - 3 1070_1071 c.866_867CC>TT c.(865-867)gcc>gTT p.A289V ZNF799_uc002mts.4_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 AAGCACTGAAGGCTTTCCCACA 0.426000 54 24 0 0 0.004672 0 0 TUBG1 7283 broad.mit.edu 37 17 40766579 40766579 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:40766579C>T uc002ian.3 + 9 1460 c.1062C>T c.(1060-1062)gcC>gcT p.A354A NM_001070 NP_001061 P23258 TBG1_HUMAN Homo sapiens tubulin, gamma 1 (TUBG1), mRNA. 354 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GGGGCCCCGCCAGCATCCAGG 0.647000 35 25 0 0 0.008361 0 0 KCNT2 343450 broad.mit.edu 37 1 196438156 196438156 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196438156C>T uc001gtd.1 - 5 487 c.427G>A c.(427-429)Gaa>Aaa p.E143K KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E143K|KCNT2_uc001gtf.1_Missense_Mutation_p.E143K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E143K|KCNT2_uc009wyv.1_Intron NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 143 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTAATTATTTCCAAGATGAAG 0.313000 8 5 0 0 0.001984 0 0 FGD1 2245 broad.mit.edu 37 X 54496550 54496550 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:54496550C>T uc004dtg.3 - 3 1734 c.1000G>A c.(1000-1002)Gag>Aag p.E334K FGD1_uc011moi.1_Missense_Mutation_p.E92K NM_004463 NP_004454 P98174 FGD1_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA. 334 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 Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|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 CTGTCAACCTCTTGGGAGCCA 0.647000 4 12 0 0 0.001855 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189660 58189660 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:58189660C>T uc002qpu.3 + 4 1386 c.689C>T c.(688-690)cCt>cTt p.P230L NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA. 230 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTCCTAGGCCTGAAGAGGGA 0.408000 11 4 0 0 0.000602 0 0 ENPP6 133121 broad.mit.edu 37 4 185038029 185038029 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:185038029C>T uc003iwc.3 - 4 977 c.835G>A c.(835-837)Gcc>Acc p.A279T NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA. 279 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TTCCCAGGGGCCGGCCAAAGG 0.562000 64 9 0 0 0.006214 0 0 FOXH1 8928 broad.mit.edu 37 8 145700562 145700562 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:145700562G>A uc003zdc.3 - 1 836 c.257C>T c.(256-258)tCc>tTc p.S86F NM_003923 NP_003914 O75593 FOXH1_HUMAN Homo sapiens forkhead box H1 (FOXH1), mRNA. 86 axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCGGTTGGAGGAAAGGTTGTG 0.652000 15 13 0 0 0.004007 0 0 KIF21B 23046 broad.mit.edu 37 1 200969850 200969850 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:200969850C>T uc001gvs.2 - 9 1778 c.1461G>A c.(1459-1461)gaG>gaA p.E487E KIF21B_uc009wzl.2_Silent_p.E487E|KIF21B_uc001gvr.2_Silent_p.E487E|KIF21B_uc010ppn.2_Silent_p.E487E NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 487 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.E486K(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCACCGTAGCTCCTCGATCT 0.637000 31 23 0 0 0.001882 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711613 155711613 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:155711613G>A uc002tyv.1 + 2 1489 c.1294G>A c.(1294-1296)Gac>Aac p.D432N KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 432 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CAGCTTGGGAGACTTGCCCAT 0.413000 47 16 0 0 0.004990 0 0 MYF5 4617 broad.mit.edu 37 12 81111175 81111175 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:81111175G>A uc001szg.2 + 0 468 c.333G>A c.(331-333)acG>acA p.T111T NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 111 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GGTGTACCACGACCAACCCCA 0.592000 37 14 0 0 0.002450 0 0 DPYD 1806 broad.mit.edu 37 1 98164976 98164976 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:98164976G>A uc001drv.3 - 5 748 c.611C>T c.(610-612)tCc>tTc p.S204F DPYD_uc010oub.1_Non-coding_Transcript NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 204 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGCCAAAAAGGAAGCACAACT 0.393000 39 18 0 0 0.004990 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148968090 148968090 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:148968090G>A uc003ilf.3 + 19 1915 c.1915G>A c.(1915-1917)Gac>Aac p.D639N ARHGAP10_uc003ilg.3_Missense_Mutation_p.D288N|ARHGAP10_uc003ilh.3_Missense_Mutation_p.D220N|ARHGAP10_uc003ili.3_Missense_Mutation_p.D72N NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA. 639 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CAGCAGTCTGGACTCACTTTC 0.507000 47 17 0 0 0.007413 0 0 PGBD5 79605 broad.mit.edu 37 1 230461093 230461093 + Missense_Mutation SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:230461093G>C uc010pwb.2 - 5 1159 c.1135C>G c.(1135-1137)Ctg>Gtg p.L379V NM_024554 NP_078830 Q8N414 PGBD5_HUMAN Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA. 379 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) ATGTAGCTCAGGTGAGCGGCA 0.537000 117 55 0 0 0.003610 0 0 LTBP1 4052 broad.mit.edu 37 2 33525604 33525604 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:33525604G>A uc021vft.1 + 20 3345 c.3322G>A c.(3322-3324)Ggg>Agg p.G1108R LTBP1_uc002rou.3_Missense_Mutation_p.G782R|LTBP1_uc002rov.3_Missense_Mutation_p.G729R|LTBP1_uc010ymz.2_Missense_Mutation_p.G782R|LTBP1_uc010yna.2_Missense_Mutation_p.G729R|LTBP1_uc010ynb.2_Missense_Mutation_p.G48R NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 1108 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTGTGGACAGGGGTACCAGCT 0.468000 25 8 0 0 0.006214 0 0 TRIML2 205860 broad.mit.edu 37 4 189026057 189026057 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:189026057C>T uc011cle.1 - 1 441 c.219G>A c.(217-219)tcG>tcA p.S73S TRIML2_uc003izl.2_Silent_p.S23S|TRIML2_uc011clf.1_Silent_p.S73S NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 23 ligase activity p.S23S(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GTTTCTCCCTCGATGTGTTCA 0.403000 41 20 0 0 0.008871 0 0 COL17A1 1308 broad.mit.edu 37 10 105815664 105815664 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:105815664C>A uc001kxr.3 - 17 1732 c.1563G>T c.(1561-1563)aaG>aaT p.K521N COL17A1_uc010qqv.1_Missense_Mutation_p.K505N NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 521 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGAGGCGGTCCTTTTCTATTC 0.592000 50 18 3.99206e-14 4.08653e-14 0.007413 1 0 SLC13A1 6561 broad.mit.edu 37 7 122821054 122821054 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:122821054G>A uc003vkm.3 - 1 226 c.201C>T c.(199-201)ccC>ccT p.P67P SLC13A1_uc010lks.3_5'UTR NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA. 67 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) TCCCAAACATGGGTAACATTA 0.403000 23 9 0 0 0.006214 0 0 PCDH18 54510 broad.mit.edu 37 4 138451647 138451647 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:138451647G>A uc003ihe.4 - 0 1983 c.1596C>T c.(1594-1596)atC>atT p.I532I PCDH18_uc003ihf.4_Silent_p.I525I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I312I|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 532 Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CATGATCAAAGATTCTGAGGG 0.423000 61 22 0 0 0.003330 0 0 NLRC5 84166 broad.mit.edu 37 16 57060009 57060009 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:57060009C>T uc021tiu.1 + 4 1281 c.1154C>T c.(1153-1155)tCg>tTg p.S385L NLRC5_uc021tit.1_Missense_Mutation_p.S385L|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.S190L|NLRC5_uc021tiw.1_Missense_Mutation_p.S190L|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 385 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCCCAGCCATCGCGGGAGGGG 0.612000 103 35 0 0 0.005524 0 0 ZNF676 163223 broad.mit.edu 37 19 22362968 22362968 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:22362968G>A uc002nqs.1 - 2 1869 c.1551C>T c.(1549-1551)tcC>tcT p.S517S NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TAAGGATCGAGGACCAGCTGA 0.403000 25 8 0 0 0.003080 0 0 ABCA12 26154 broad.mit.edu 37 2 215845258 215845258 + Silent SNP G A A rs138177557 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:215845258G>A uc002vew.3 - 30 4909 c.4689C>T c.(4687-4689)taC>taT p.Y1563Y ABCA12_uc002vev.3_Silent_p.Y1245Y|ABCA12_uc010zjn.2_Silent_p.Y490Y NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 1563 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTCCTTGAGGTAAAATGGGG 0.493000 45 23 0 0 0.002299 0 0 GPR116 221395 broad.mit.edu 37 6 46847735 46847735 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46847735C>T uc003oyo.3 - 8 1145 c.856G>A c.(856-858)Ggg>Agg p.G286R GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G286R|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.G286R NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 286 Ig-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) ACTGTGTCCCCTTCAAAGATG 0.408000 41 15 0 0 0.002450 0 0 APOB 338 broad.mit.edu 37 2 21234537 21234537 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:21234537C>T uc002red.3 - 25 5331 c.5203G>A c.(5203-5205)Gga>Aga p.G1735R NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1735 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) AGCTTAAGTCCTTCTTGACTG 0.443000 392 211 0 0 0.003610 0 0 DBX2 440097 broad.mit.edu 37 12 45429837 45429837 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:45429837G>A uc001rok.1 - 1 636 c.464C>T c.(463-465)tCc>tTc p.S155F NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN Homo sapiens developing brain homeobox 2 (DBX2), mRNA. 155 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) gcgccgacaggacccaccgca 0.478000 10 7 0 0 0.001984 0 0 OR4N5 390437 broad.mit.edu 37 14 20612336 20612336 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20612336C>T uc010tla.2 + 0 442 c.442C>T c.(442-444)Ctg>Ttg p.L148L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ATCGTTGGTTCTGTGGCTTGG 0.493000 98 41 0 0 0.003610 0 0 CPZ 8532 broad.mit.edu 37 4 8613827 8613827 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8613827G>A uc003glm.3 + 7 1475 c.1301G>A c.(1300-1302)gGa>gAa p.G434E CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.G423E|CPZ_uc003gln.3_Missense_Mutation_p.G297E NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 434 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AATAGGTGTGGAGGCAATTTC 0.597000 21 9 0 0 0.006214 0 0 NLRP7 199713 broad.mit.edu 37 19 55450858 55450858 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55450858G>A uc002qih.4 - 3 1405 c.1329C>T c.(1327-1329)tcC>tcT p.S443S NLRP7_uc010esk.3_Silent_p.S443S|NLRP7_uc002qig.4_Silent_p.S443S|NLRP7_uc002qii.4_Silent_p.S443S|NLRP7_uc010esl.3_Silent_p.S471S NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 443 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GACGGAGGTCGGACTCCTGCA 0.642000 33 9 0 0 0.006214 0 0 NRXN3 9369 broad.mit.edu 37 14 79454459 79454459 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:79454459T>C uc001xun.3 + 11 2609 c.2118T>C c.(2116-2118)tcT>tcC p.S706S NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.S831S NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 0 angiogenesis|cell adhesion integral to membrane p.T705T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTATGACCTCTTATTCTGGAA 0.443000 29 19 0 0 0.002780 0 0 INTU 27152 broad.mit.edu 37 4 128627808 128627808 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:128627808C>T uc003ifk.2 + 11 2058 c.1955C>T c.(1954-1956)cCc>cTc p.P652L INTU_uc011cgq.2_Non-coding_Transcript NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA. 652 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TCTCCAGTCCCCTGTTTGTCT 0.458000 55 29 0 0 0.006320 0 0 MLH3 27030 broad.mit.edu 37 14 75515207 75515207 + Silent SNP G C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:75515207G>C uc001xrd.1 - 1 1368 c.1152C>G c.(1150-1152)tcC>tcG p.S384S MLH3_uc001xre.1_Silent_p.S384S|MLH3_uc010tuy.1_Non-coding_Transcript NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA. 384 mismatch repair|reciprocal meiotic recombination MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TCCTCTCATCGGAAGTCACAC 0.328000 Mismatch excision repair (MMR) 20 6 0 0 0.001168 0 0 RPS11 6205 broad.mit.edu 37 19 50000830 50000830 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:50000830C>T uc002pob.1 + 2 281 c.201C>T c.(199-201)tcC>tcT p.S67S SNORD35B_uc002poc.3_5'Flank NM_001015 NP_001006 P62280 RS11_HUMAN Homo sapiens ribosomal protein S11 (RPS11), mRNA. 67 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) GTAATGTGTCCATTCGAGGGC 0.542000 41 13 0 0 0.001855 0 0 PRSS3 5646 broad.mit.edu 37 9 33798597 33798597 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:33798597G>A uc003ztj.4 + 3 790 c.739G>A c.(739-741)Gag>Aag p.E247K PRSS3_uc003zti.4_Missense_Mutation_p.E204K|PRSS3_uc022bfu.1_Missense_Mutation_p.E183K|PRSS3_uc003ztl.4_Missense_Mutation_p.E190K NM_007343 NP_031369 P35030 TRY3_HUMAN Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA. 247 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) GGGCTTCCTTGAGGGAGGCAA 0.562000 171 8 0 0 0.002450 0 0 SMC5 23137 broad.mit.edu 37 9 72965375 72965375 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:72965375C>T uc004ahr.2 + 23 3270 c.3153C>T c.(3151-3153)ttC>ttT p.F1051F SMC5_uc011lry.1_Silent_p.F196F NM_015110 NP_055925 Q8IY18 SMC5_HUMAN Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA. 1051 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 AATACTTTTTCATAACACCAA 0.348000 29 14 0 0 0.002450 0 0 ZNF300 91975 broad.mit.edu 37 5 150276037 150276037 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:150276037G>A uc021yfx.1 - 6 1240 c.812C>T c.(811-813)tCc>tTc p.S271F ZNF300_uc021yfy.1_Missense_Mutation_p.S255F|ZNF300_uc021yfz.1_Missense_Mutation_p.S219F NM_001172831 NP_001166303 Q96RE9 ZN300_HUMAN Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA. 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGAATAAGGGATTGTGTATT 0.353000 48 20 0 0 0.007413 0 0 CPNE1 8904 broad.mit.edu 37 20 34215288 34215288 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:34215288G>A uc010zvj.2 - 13 1532 c.1165C>T c.(1165-1167)Cgc>Tgc p.R389C CPNE1_uc002xde.3_Missense_Mutation_p.R360C|CPNE1_uc002xdf.3_Missense_Mutation_p.R384C|CPNE1_uc002xdi.3_Missense_Mutation_p.R384C|CPNE1_uc002xdj.3_Missense_Mutation_p.R384C|CPNE1_uc002xdl.3_Missense_Mutation_p.R384C|CPNE1_uc002xdm.3_Missense_Mutation_p.R384C NM_003915 NP_690905 Q99829 CPNE1_HUMAN Homo sapiens copine I (CPNE1), transcript variant 3, mRNA. 384 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity p.R384C(2) breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCATAGAGGCGAACTTGGGGC 0.577000 35 22 0 0 0.005443 0 0 DBH 1621 broad.mit.edu 37 9 136508610 136508610 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:136508610G>A uc004cel.3 + 3 829 c.820G>A c.(820-822)Gac>Aac p.D274N NM_000787 NP_000778 P09172 DOPO_HUMAN Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA. 274 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane L-ascorbic acid binding|dopamine beta-monooxygenase activity central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCCCGAGATGGACAGCGTCCC 0.652000 50 22 0 0 0.002780 0 0 PLCE1 51196 broad.mit.edu 37 10 95791437 95791437 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:95791437G>A uc001kjk.3 + 1 1268 c.634G>A c.(634-636)Gat>Aat p.D212N PLCE1_uc010qnx.2_Missense_Mutation_p.D212N NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 212 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity p.D212N(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTTTAGACGATTGTGGAAA 0.388000 16 8 0 0 0.004482 0 0 TNC 3371 broad.mit.edu 37 9 117808821 117808821 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:117808821C>T uc004bjj.4 - 16 5405 c.4993G>A c.(4993-4995)Gaa>Aaa p.E1665K TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.E1302K NM_002160 NP_002151 P24821 TENA_HUMAN Homo sapiens tenascin C (TNC), mRNA. 1665 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGGGTTATTTCCAGTGGCTCA 0.478000 60 29 0 0 0.008361 0 0 PTDSS1 9791 broad.mit.edu 37 8 97332525 97332525 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:97332525C>T uc003yht.1 + 9 1227 c.1125C>T c.(1123-1125)ctC>ctT p.L375L PTDSS1_uc003yhu.1_Silent_p.L229L NM_014754 NP_055569 P48651 PTSS1_HUMAN Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA. 375 phosphatidylserine biosynthetic process integral to membrane transferase activity p.D374N(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GACAAGATCTCTTCTCTAAGA 0.398000 74 20 0 0 0.008871 0 0 CCL4L2 388372 broad.mit.edu 37 17 34539888 34539888 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:34539888C>T uc010cuj.3 + 2 272 c.196C>T c.(196-198)Caa>Taa p.Q66* CCL4L2_uc002hlh.1_Intron|CCL4L2_uc002hlj.1_Intron|CCL4L2_uc002hli.1_Non-coding_Transcript|CCL4L2_uc010cuk.1_Non-coding_Transcript NM_207007 NP_996890 Q8NHW4 CC4L_HUMAN Homo sapiens chemokine (C-C motif) ligand 4-like 2 (CCL4L2), mRNA. 66 chemotaxis|immune response|inflammatory response extracellular space chemokine activity endometrium(1) 1 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTACGGATTCCAAACCAAAAG 0.522000 17 16 0 0 0.006122 0 0 FAT4 79633 broad.mit.edu 37 4 126372253 126372253 + Missense_Mutation SNP T G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:126372253T>G uc003ifj.4 + 8 10082 c.10082T>G c.(10081-10083)cTt>cGt p.L3361R FAT4_uc011cgp.2_Missense_Mutation_p.L1659R|FAT4_uc003ifi.1_Missense_Mutation_p.L839R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3361 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L3361V(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCTGGAATTCTTGATCGAGAA 0.403000 63 27 0 0 0.007291 0 0 APBA1 320 broad.mit.edu 37 9 72047517 72047517 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:72047517C>T uc004ahh.2 - 11 2653 c.2377G>A c.(2377-2379)Gga>Aga p.G793R NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 793 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 ACGCTCTGTCCATTGATTTCA 0.592000 43 16 0 0 0.003163 0 0 NPY2R 4887 broad.mit.edu 37 4 156135434 156135434 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:156135434G>A uc003ioq.3 + 1 832 c.343G>A c.(343-345)Gag>Aag p.E115K NPY2R_uc003ior.3_Missense_Mutation_p.E115K|NPY2R_uc021xtm.1_Missense_Mutation_p.E115K NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 115 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CTTAATGGGGGAGTGGAAAAT 0.512000 41 12 0 0 0.004007 0 0 TATDN2 9797 broad.mit.edu 37 3 10320110 10320110 + Silent SNP C T T rs146507538 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:10320110C>T uc011atr.2 + 5 2690 c.2109C>T c.(2107-2109)atC>atT p.I703I TATDN2_uc003bvg.2_Silent_p.I703I|TATDN2_uc003bvf.3_Silent_p.I703I|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank|TATDN2_uc011atw.1_5'Flank|TATDN2_uc011auf.2_5'Flank|TATDN2_uc011aug.2_5'Flank|TATDN2_uc011atx.2_5'Flank|TATDN2_uc011aty.2_5'Flank|TATDN2_uc011atz.2_5'Flank|TATDN2_uc011aua.2_5'Flank|TATDN2_uc010hdl.3_5'Flank|TATDN2_uc011aub.2_5'Flank|TATDN2_uc010hdm.3_5'Flank|TATDN2_uc011auc.2_5'Flank|TATDN2_uc011aud.2_5'Flank|TATDN2_uc011aue.2_5'Flank NM_014760 NP_055575 Q93075 TATD2_HUMAN Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA. 703 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 AGAGAATCATCGTGGAAACGG 0.607000 135 63 0 0 0.003610 0 0 C5AR1 728 broad.mit.edu 37 19 47823062 47823062 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:47823062G>A uc002pgj.1 + 1 77 c.28G>A c.(28-30)Gat>Aat p.D10N NM_001736 NP_001727 P21730 C5AR_HUMAN Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA. 10 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-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;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TACCACCCCTGATTATGGGCA 0.532000 39 16 0 0 0.004990 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565132 20565132 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20565132G>A uc002dhj.4 - 5 917 c.707C>T c.(706-708)tCg>tTg p.S236L ACSM2B_uc002dhk.4_Missense_Mutation_p.S236L|ACSM2B_uc010bwf.1_Missense_Mutation_p.S236L NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 236 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GCCCAGGCTCGAGTAGGAATG 0.507000 45 23 0 0 0.003954 0 0 RYR1 6261 broad.mit.edu 37 19 38976641 38976641 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:38976641C>T uc002oit.3 + 33 5476 c.5346C>T c.(5344-5346)ttC>ttT p.F1782F RYR1_uc002oiu.3_Silent_p.F1782F NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1782 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCCCTGTTTCGTGGCCGCTC 0.682000 22 12 0 0 0.000978 0 0 ITPR1 3708 broad.mit.edu 37 3 4706914 4706914 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:4706914C>T uc003bqc.3 + 15 1952 c.1602C>T c.(1600-1602)ttC>ttT p.F534F ITPR1_uc021wsi.1_Silent_p.F549F|ITPR1_uc021wsj.1_Silent_p.F534F|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 549 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACGCTCCTTTCAGACACATCT 0.537000 35 11 0 0 0.008291 0 0 INMT 11185 broad.mit.edu 37 7 30791851 30791851 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:30791851G>A uc003tbs.1 + 0 101 c.85G>A c.(85-87)Ggc>Agc p.G29S FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Missense_Mutation_p.G29S NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 29 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CAGCTTCGATGGCAGCCCCTC 0.567000 65 27 0 0 0.004656 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465742 24465742 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:24465742C>T uc010tcw.2 - 2 708 c.688G>A c.(688-690)Gaa>Aaa p.E230K MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.E230K NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA. 230 C1q. collagen p.E230K(2) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TGGTTGAATTCATTATACAGG 0.428000 15 4 0 0 0.001984 0 0 OR4A16 81327 broad.mit.edu 37 11 55111335 55111335 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55111335T>C uc010rie.2 + 0 659 c.659T>C c.(658-660)cTa>cCa p.L220P NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GGAGTCATCCTAAACTTCCTT 0.438000 62 21 0 0 0.002780 0 0 PRKDC 5591 broad.mit.edu 37 8 48749810 48749810 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:48749810G>A uc003xqi.3 - 57 7778 c.7721C>T c.(7720-7722)cCc>cTc p.P2574L PRKDC_uc003xqj.3_Missense_Mutation_p.P2574L NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 2575 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTCGAACATGGGGTTTGGATA 0.373000 Non-homologous end-joining 11 9 0 0 0.004482 0 0 ATP9B 374868 broad.mit.edu 37 18 77108142 77108142 + Missense_Mutation SNP C T T rs141754612 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:77108142C>T uc002lmx.3 + 24 2863 c.2849C>T c.(2848-2850)tCc>tTc p.S950F ATP9B_uc002lmw.1_Missense_Mutation_p.S950F|ATP9B_uc002lmz.1_Missense_Mutation_p.S644F|ATP9B_uc002lna.3_Intron|ATP9B_uc002lnb.1_Intron|ATP9B_uc010drb.3_Non-coding_Transcript NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 950 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GCTGTGTTTTCCTCAGTCTTC 0.557000 58 23 0 0 0.003954 0 0 NOTCH4 4855 broad.mit.edu 37 6 32187388 32187388 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32187388G>A uc003obb.3 - 7 1630 c.1491C>T c.(1489-1491)ttC>ttT p.F497F NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.F497F NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 497 EGF-like 12; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGAGGCAGTGGAAGGTGGCAA 0.602000 222 59 0 0 0.003610 0 0 GRK5 2869 broad.mit.edu 37 10 121196334 121196334 + Missense_Mutation SNP C T T rs145397190 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:121196334C>T uc001led.3 + 8 1143 c.910C>T c.(910-912)Cgt>Tgt p.R304C GRK5_uc009xzh.3_Missense_Mutation_p.R199C|GRK5_uc010qta.1_Missense_Mutation_p.R199C NM_005308 NP_005299 P34947 GRK5_HUMAN Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA. 304 Protein kinase. R -> H (in dbSNP:rs2230349). G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) AGACCTCCACCGTGAGAACAC 0.597000 9 8 0 0 0.003080 0 0 OR2D3 120775 broad.mit.edu 37 11 6942260 6942260 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6942260G>A uc010rav.2 + 0 28 c.28G>A c.(28-30)Ggt>Agt p.G10S NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T9K(1) breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGCCAAACAGGTAAACAGGC 0.398000 24 6 0 0 0.001168 0 0 VN1R2 317701 broad.mit.edu 37 19 53762620 53762620 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:53762620C>T uc002qbi.2 + 0 1076 c.992C>T c.(991-993)tCc>tTc p.S331F NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 331 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TACGCCCTTTCCTTCATCACC 0.448000 92 32 0 0 0.002096 0 0 NPAS4 266743 broad.mit.edu 37 11 66191166 66191166 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:66191166C>T uc001ohx.1 + 5 1102 c.926C>T c.(925-927)gCc>gTc p.A309V NPAS4_uc010rpc.1_Missense_Mutation_p.A99V NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 309 PAC. transcription, DNA-dependent DNA binding|signal transducer activity p.A309G(2) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCCATTACTGCCAATAACTAC 0.532000 42 12 0 0 0.000978 0 0 BRD2 6046 broad.mit.edu 37 6 32944031 32944031 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32944031C>T uc010juh.3 + 4 1919 c.615C>T c.(613-615)ctC>ctT p.L205L BRD2_uc003ocn.4_Silent_p.L205L|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Silent_p.L85L|BRD2_uc003ocq.4_Silent_p.L205L|BRD2_uc021ywf.1_Silent_p.L158L NM_001199455 NP_001186384 P25440 BRD2_HUMAN Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA. 205 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TTCTAGCGCTCCAGGGCAGTG 0.502000 35 12 0 0 0.000978 0 0 CNTD2 79935 broad.mit.edu 37 19 40732416 40732416 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:40732416G>A uc010xvi.2 - 0 182 c.133C>T c.(133-135)Ccc>Tcc p.P45S CNTD2_uc002ond.3_Non-coding_Transcript NM_024877 NP_079153 B4DX65 B4DX65_HUMAN Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA. 45 regulation of cyclin-dependent protein kinase activity protein kinase binding lung(1)|prostate(1) 2 AAGCCGTCGGGGACTGCGGCG 0.731000 16 9 0 0 0.008291 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18765916 18765916 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:18765916G>A uc010exr.3 - 3 705 c.593C>T c.(592-594)tCc>tTc p.S198F NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.S256F|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.S196F|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.S256F|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.S239F|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.S273F|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.S258F|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.S196F|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.S48F NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 256 Pro-rich. purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding CAGCTGGGTGGAGGCGGGGTA 0.657000 14 6 0 0 0.003080 0 0 OBSCN 84033 broad.mit.edu 37 1 228538555 228538555 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228538555C>T uc009xez.1 + 76 18374 c.18330C>T c.(18328-18330)ttC>ttT p.F6110F OBSCN_uc001hsn.3_Silent_p.F6110F|OBSCN_uc001hsr.1_Silent_p.F739F|OBSCN_uc009xfa.3_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6110 Ig-like 53. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding p.F6692F(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACCACGGTTCGTGAACAAGG 0.582000 37 6 0 0 0.001168 0 0 B4GALT2 8704 broad.mit.edu 37 1 44447572 44447572 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:44447572C>T uc010okl.2 + 2 688 c.612C>T c.(610-612)cgC>cgT p.R204R B4GALT2_uc001clg.3_Silent_p.R175R|B4GALT2_uc001clh.3_Silent_p.R109R|B4GALT2_uc001cli.3_Silent_p.R175R NM_030587 NP_085076 O60909 B4GT2_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA. 175 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) AGCGGCTGCGCTACGGCGTCT 0.607000 29 7 0 0 0.001984 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20490586 20490586 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:20490586C>T uc001ytf.1 + 3 c.566C>T Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. ACTGTGGCTTCAGGTGGGTGT 0.468000 272 20 0 0 0.002299 0 0 KSR2 283455 broad.mit.edu 37 12 117914313 117914313 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:117914313C>T uc001two.2 - 16 2506 c.2451G>A c.(2449-2451)gaG>gaA p.E817E NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 846 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGAGCTTATCCTCCTCTGTGT 0.607000 12 4 0 0 0.000602 0 0 LRTM1 57408 broad.mit.edu 37 3 54958975 54958975 + Missense_Mutation SNP C T T rs141303357 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:54958975C>T uc003dhl.3 - 1 409 c.275G>A c.(274-276)gGa>gAa p.G92E CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 92 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) ATGGAAAGCTCCAGGGGCCAG 0.463000 20 4 0 0 0.009096 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762527 130762527 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:130762527G>A uc003qcb.3 + 1 3338 c.960G>A c.(958-960)agG>agA p.R320R TMEM200A_uc003qca.3_Silent_p.R320R|TMEM200A_uc010kfh.3_Silent_p.R320R|TMEM200A_uc010kfi.3_Silent_p.R320R|TMEM200A_uc021zfg.1_Silent_p.R320R NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 320 integral to membrane 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) GTAGGTCAAGGAATTTGTCAA 0.428000 46 11 0 0 0.008291 0 0 MACC1 346389 broad.mit.edu 37 7 20199749 20199749 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:20199749C>T uc003sus.4 - 4 544 c.235G>A c.(235-237)Gat>Aat p.D79N MACC1_uc010kug.3_Missense_Mutation_p.D79N NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 79 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GTTATGTCATCCAAAAATGGG 0.358000 23 13 0 0 0.002450 0 0 CIT 11113 broad.mit.edu 37 12 120196473 120196473 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:120196473G>A uc001txj.2 - 20 2509 c.2453C>T c.(2452-2454)tCc>tTc p.S818F CIT_uc001txh.2_Missense_Mutation_p.S310F|CIT_uc001txi.2_Missense_Mutation_p.S776F NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 776 intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGTTCCAGGGATCTGATCTT 0.448000 67 23 0 0 0.005443 0 0 AGBL1 123624 broad.mit.edu 37 15 86697687 86697687 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:86697687G>A uc002blz.1 + 2 231 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 51 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GAAGGCCCTAGAATTGGAAGC 0.448000 14 4 0 0 0.009096 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089501 113089501 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:113089501C>T uc002thq.1 + 11 3400 c.3006C>T c.(3004-3006)aaC>aaT p.N1002N NM_198581 NP_940983 P61129 ZC3H6_HUMAN Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA. 1002 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CCAGATCAAACCCTGGTTCAT 0.522000 16 8 0 0 0.004482 0 0 ODZ2 57451 broad.mit.edu 37 5 167642239 167642239 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:167642239G>A uc010jjd.3 + 20 4013 c.4013G>A c.(4012-4014)gGa>gAa p.G1338E ODZ2_uc003lzr.4_Missense_Mutation_p.G1108E|ODZ2_uc003lzt.4_Missense_Mutation_p.G711E|ODZ2_uc010jje.3_Missense_Mutation_p.G602E NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGCGGGGATGGAGGGAAGGCC 0.557000 61 28 0 0 0.002096 0 0 CTNND2 1501 broad.mit.edu 37 5 11022919 11022919 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:11022919G>A uc003jfa.1 - 16 3106 c.2961C>T c.(2959-2961)atC>atT p.I987I CTNND2_uc010itt.2_Silent_p.I896I|CTNND2_uc011cmy.1_Silent_p.I650I|CTNND2_uc011cmz.1_Silent_p.I554I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I579I NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 987 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.I987I(2) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCAACTTCTCGATGCCACCGG 0.498000 36 13 0 0 0.002450 0 0 PRSS38 339501 broad.mit.edu 37 1 228033839 228033839 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228033839C>T uc001hrh.3 + 4 911 c.911C>T c.(910-912)gCt>gTt p.A304V NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 304 proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCAGCCCCTGCTCTCTCTCCA 0.532000 39 14 0 0 0.002450 0 0 TTC39A 22996 broad.mit.edu 37 1 51787445 51787445 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:51787445C>T uc001csl.3 - 1 202 c.97G>A c.(97-99)Gac>Aac p.D33N TTC39A_uc001csk.3_Missense_Mutation_p.D33N|TTC39A_uc010ond.2_Missense_Mutation_p.D5N|TTC39A_uc010one.2_Missense_Mutation_p.D32N|TTC39A_uc010onf.2_Missense_Mutation_p.D36N|TTC39A_uc001csn.3_Missense_Mutation_p.D32N|TTC39A_uc001cso.1_Missense_Mutation_p.D29N|TTC39A_uc009vyy.1_Missense_Mutation_p.D5N NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA. 33 binding p.0?(2)|p.L32L(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 AGGAAGAGGTCCAGGGCGGTC 0.632000 25 10 0 0 0.008291 0 0 PPAP2B 8613 broad.mit.edu 37 1 56962279 56962279 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:56962279C>T uc001cyj.2 - 5 1448 c.880G>A c.(880-882)Gaa>Aaa p.E294K NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 294 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GAAAGGATTTCCTTCCGGATA 0.478000 35 17 0 0 0.006122 0 0 LAMA1 284217 broad.mit.edu 37 18 7024446 7024447 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:7024446_7024447GG>AA uc002knm.3 - 17 2515_2516 c.2421_2422CC>TT c.(2419-2424)cacctc>caTTtc p.L808F LAMA1_uc010wzj.2_Missense_Mutation_p.L284F NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 808 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.L808L(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCATCATTGAGGTGGCAGGTGG 0.436000 17 4 0 0 0.004672 0 0 SMOX 54498 broad.mit.edu 37 20 4163123 4163123 + Missense_Mutation SNP T G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:4163123T>G uc002wkp.2 + 4 1198 c.997T>G c.(997-999)Tcg>Gcg p.S333A SMOX_uc010zqo.1_Intron|SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkm.1_Missense_Mutation_p.S333A|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.S333A NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA. 333 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) TGTGACCGTGTCGCTAGGTGT 0.637000 34 17 0 0 0.007413 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536156 31536156 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:31536156C>T uc003aka.3 - 0 314 c.185G>A c.(184-186)tGg>tAg p.W62* NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 62 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 ATGCGCATCCCAGCGGGCATG 0.637000 52 15 0 0 0.002450 0 0 MSI2 124540 broad.mit.edu 37 17 55478817 55478817 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:55478817C>T uc002iuz.1 + 5 563 c.390C>T c.(388-390)ttC>ttT p.F130F MSI2_uc010wnm.1_Silent_p.F108F|MSI2_uc002iva.3_Silent_p.F126F NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA. 130 RRM 2. cytoplasm RNA binding|nucleotide binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AGCAATATTTCGAGCAGTTTG 0.488000 T HOXA9 CML 45 30 0 0 0.002836 0 0 ENPP4 22875 broad.mit.edu 37 6 46107806 46107806 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46107806A>T uc003oxy.3 + 1 745 c.486A>T c.(484-486)gaA>gaT p.E162D NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA. 162 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CATTTGAGGAAAGACTAAATA 0.413000 53 15 0 0 0.003163 0 0 C15orf2 23742 broad.mit.edu 37 15 24922858 24922858 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:24922858G>A uc001ywo.3 + 0 2318 c.1844G>A c.(1843-1845)gGa>gAa p.G615E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 615 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGGCACCCGGGAAAGACATCA 0.473000 52 17 0 0 0.006122 0 0 XKR4 114786 broad.mit.edu 37 8 56436558 56436558 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:56436558G>A uc003xsf.3 + 2 1757 c.1725G>A c.(1723-1725)gtG>gtA p.V575V NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 575 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TCTTTCAAGTGAGGCCCACTG 0.532000 48 17 0 0 0.008871 0 0 SOGA3 387104 broad.mit.edu 37 6 127796913 127796913 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127796913G>A uc003qbd.3 - 5 3123 c.2258C>T c.(2257-2259)gCc>gTc p.A753V KIAA0408_uc003qbc.3_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 753 integral to membrane GTCGCTCTCGGCGTCGCTGTC 0.692000 80 31 0 0 0.002836 0 0 TTC6 319089 broad.mit.edu 37 14 38273927 38273927 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:38273927C>T uc001wuj.3 + 3 364 c.262C>T c.(262-264)Cat>Tat p.H88Y TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.H88Y|TTC6_uc001wui.3_Non-coding_Transcript SubName: Full=TTC6 protein; central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) TGCCATTTCTCATTCTGATAA 0.398000 69 50 0 0 0.003610 0 0 NLRP9 338321 broad.mit.edu 37 19 56243537 56243537 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56243537C>T uc002qly.3 - 1 1688 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 554 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AATTCTTTTTCCTGAGTTTCA 0.348000 18 10 0 0 0.001368 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411082 32411082 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32411082G>A uc003obh.3 + 2 558 c.449G>A c.(448-450)gGa>gAa p.G150E HLA-DRA_uc003obi.3_Missense_Mutation_p.G125E NM_019111 NP_061984 P01903 DRA_HUMAN Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA. 150 Alpha-2.|Ig-like C1-type. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane MHC class II receptor activity p.G150R(1) NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 CTTCGAAATGGAAAACCTGTC 0.527000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 42 38 0 0 0.004878 0 0 TCRBV3S1 0 broad.mit.edu 37 7 142499643 142499643 + RNA SNP C T T rs1126990 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142499643C>T uc003wbe.4 + 2 c.456C>T TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript Human TCR Cbeta1 chain cDNA. GGCTTCACCTCCGGTAAGTGA 0.507000 256 95 0 0 0.003610 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754734 94754734 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94754734C>T uc001yct.3 - 2 1347 c.881G>A c.(880-882)gGa>gAa p.G294E SERPINA10_uc001ycu.4_Missense_Mutation_p.G294E NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 294 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.G294R(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGTGGCATTTCCTTGGTAGGG 0.502000 31 14 0 0 0.004007 0 0 WNT8A 7478 broad.mit.edu 37 5 137426367 137426367 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:137426367G>A uc011cyk.1 + 4 951 c.715G>A c.(715-717)Gat>Aat p.D239N WNT8A_uc011cyj.1_Missense_Mutation_p.D239N|WNT8A_uc003lcd.1_Missense_Mutation_p.D221N Q9H1J5 WNT8A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA. 221 Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity p.A238V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AATTGAAATGGATAAGCGGCA 0.567000 20 6 0 0 0.001168 0 0 ZNF398 57541 broad.mit.edu 37 7 148863293 148863293 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:148863293C>T uc011kum.2 + 3 620 c.479C>T c.(478-480)cCa>cTa p.P160L ZNF398_uc011kul.2_5'UTR|ZNF398_uc003wfl.3_Missense_Mutation_p.P155L NM_020781 NP_065832 Q8TD17 ZN398_HUMAN Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA. 155 KRAB. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) TTTTCCACTCCAGAGTGGGAA 0.398000 45 14 0 0 0.002450 0 0 PRRC2B 84726 broad.mit.edu 37 9 134321957 134321958 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:134321957_134321958CC>TT uc004can.4 + 5 838_839 c.783_784CC>TT c.(781-786)gtccga>gtTTga p.R262* PRRC2B_uc010mzj.1_5'Flank|PRRC2B_uc004cam.1_Nonsense_Mutation_p.R262* NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 262 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CTCAGCCTGTCCGAAAAGGGGC 0.540000 14 10 0 0 0.004672 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332964 100332964 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:100332964G>A uc021sxl.1 - 1 c.189C>T DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. GGGCAGGCAGGGGCAGGGGAG 0.617000 30 6 0 0 0.004482 0 0 API5 8539 broad.mit.edu 37 11 43364037 43364037 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:43364037C>T uc010rfh.1 + 13 1725 c.1552C>T c.(1552-1554)Cgt>Tgt p.R518C API5_uc001mxf.2_3'UTR|API5_uc010rfg.1_Missense_Mutation_p.R507C|API5_uc010rfi.1_3'UTR|API5_uc021qgi.1_3'UTR NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA. 0 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding p.R518C(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 ACGAGGAAATCGTAGTCGGGG 0.463000 33 5 0 0 0.001168 0 0 FKBP15 23307 broad.mit.edu 37 9 115930833 115930833 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:115930833G>A uc004bgs.2 - 26 3642 c.3489C>T c.(3487-3489)ctC>ctT p.L1163L FKBP15_uc004bgr.2_Silent_p.L600L|FKBP15_uc011lxc.1_Silent_p.L744L NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 1163 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CATCCCCAGAGAGACTGAAGG 0.493000 16 10 0 0 0.006214 0 0 LAMA1 284217 broad.mit.edu 37 18 6948508 6948508 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:6948508G>A uc002knm.3 - 59 8698 c.8604C>T c.(8602-8604)agC>agT p.S2868S LAMA1_uc002knk.3_Silent_p.S198S|LAMA1_uc002knl.3_Silent_p.S321S|LAMA1_uc010wzj.2_Silent_p.S2344S NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2868 Laminin G-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGCTGTTTGCTGTTAACCG 0.527000 20 15 0 0 0.002450 0 0 SLC38A4 55089 broad.mit.edu 37 12 47186821 47186821 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:47186821C>T uc001rpi.2 - 2 433 c.34G>A c.(34-36)Gaa>Aaa p.E12K SLC38A4_uc001rpj.2_Missense_Mutation_p.E12K|SLC38A4_uc009zkl.2_Missense_Mutation_p.E12K NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 12 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TCATCTGGTTCGATGTTGACA 0.443000 57 18 0 0 0.008871 0 0 HTR2A 3356 broad.mit.edu 37 13 47409312 47409312 + Missense_Mutation SNP C G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:47409312C>G uc010acr.3 - 3 1765 c.1076G>C c.(1075-1077)gGg>gCg p.G359A HTR2A_uc001vbr.3_Missense_Mutation_p.G275A NM_000621 NP_000612 P28223 5HT2A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA. 359 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.G359G(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GAGCAGGGCCCCAATGACATC 0.473000 35 17 0 0 0.006122 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629369 51629369 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51629369C>T uc010yct.2 + 2 827 c.732C>T c.(730-732)ttC>ttT p.F244F SIGLEC9_uc002pvu.3_Silent_p.F244F NM_001198558 NP_001185487 Q9Y336 SIGL9_HUMAN Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA. 244 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TGACTGTCTTCCAAGGAGACG 0.607000 31 11 0 0 0.001855 0 0 ATP13A5 344905 broad.mit.edu 37 3 193081082 193081082 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:193081082G>A uc011bsq.2 - 2 327 c.327C>T c.(325-327)tcC>tcT p.S109S NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 109 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAGCCACCAGGGATTCTTCCC 0.408000 50 11 0 0 0.008291 0 0 CIB3 117286 broad.mit.edu 37 19 16275555 16275555 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16275555C>T uc002nds.3 - 4 516 c.516G>A c.(514-516)atG>atA p.M172I CIB3_uc010eae.3_Missense_Mutation_p.M111I|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.M123I NM_054113 NP_473454 Q96Q77 CIB3_HUMAN Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA. 172 EF-hand 3. calcium ion binding p.M172I(2) cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 CCCGGAGGATCATGTTCTGGA 0.572000 27 13 0 0 0.003163 0 0 UNC13C 440279 broad.mit.edu 37 15 54305959 54305959 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:54305959G>A uc021smr.1 + 0 859 c.859G>A c.(859-861)Gaa>Aaa p.E287K UNC13C_uc021sms.1_Missense_Mutation_p.E287K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 287 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGTACAAAGTGAAATTGAGCA 0.458000 35 30 0 0 0.009535 0 0 MAGEC3 139081 broad.mit.edu 37 X 140983092 140983092 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:140983092C>A uc011mwp.2 + 4 947 c.947C>A c.(946-948)tCc>tAc p.S316Y MAGEC3_uc004fbs.3_5'UTR|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 316 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GATGTGCTTTCCCGACTTGCA 0.597000 27 24 6.50621e-10 6.63327e-10 0.002836 1 0 SIVA1 10572 broad.mit.edu 37 14 105221989 105221989 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:105221989C>T uc001yph.3 + 1 210 c.141C>T c.(139-141)ttC>ttT p.F47F SIVA1_uc010tyj.1_Silent_p.F47F|SIVA1_uc001ypg.1_Silent_p.F47F|SIVA1_uc001ypi.3_Intron|SIVA1_uc021sel.1_5'Flank NM_006427 NP_006418 O15304 SIVA_HUMAN Homo sapiens SIVA1, apoptosis-inducing factor (SIVA1), transcript variant 1, mRNA. 47 Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity. activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis cytoplasm|mitochondrion|nucleoplasm|nucleus CD27 receptor binding|caspase activator activity|metal ion binding|viral receptor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) GACTCCTGTTCCTCGGGGCCC 0.597000 58 20 0 0 0.003954 0 0 CDHR2 54825 broad.mit.edu 37 5 176002512 176002512 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:176002512C>T uc021yie.1 + 9 1048 c.774C>T c.(772-774)acC>acT p.T258T CDHR2_uc003mem.2_Silent_p.T258T|CDHR2_uc003men.1_Silent_p.T258T NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 258 Cadherin 3. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TCCAGGGAACCTCGGTGCTGA 0.632000 60 24 0 0 0.005443 0 0 C2orf71 388939 broad.mit.edu 37 2 29295755 29295755 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:29295755G>A uc002rmt.2 - 0 1373 c.1373C>T c.(1372-1374)tCc>tTc p.S458F NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 458 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 AATCCCAAAGGAATCACATGG 0.557000 48 17 0 0 0.006122 0 0 DNER 92737 broad.mit.edu 37 2 230282920 230282920 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:230282920C>T uc002vpv.3 - 8 1660 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 505 EGF-like 8; calcium-binding (Potential). Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCATTATATTCCTCCTCACAG 0.532000 33 7 0 0 0.003080 0 0 LILRP2 79166 broad.mit.edu 37 19 55222099 55222099 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55222099C>T uc002qgs.1 + 0 c.2499C>T LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GTGACCTCAGCCCACGCGGGG 0.622000 28 15 0 0 0.002450 0 0 SEZ6 124925 broad.mit.edu 37 17 27285069 27285069 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:27285069A>T uc002hdp.2 - 10 2392 c.2198T>A c.(2197-2199)gTg>gAg p.V733E SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.V733E|SEZ6_uc002hdq.1_Missense_Mutation_p.V608E NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA. 733 Sushi 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GTAAGTGACCACGGTGCCGTG 0.612000 36 17 0 0 0.004990 0 0 INSL5 10022 broad.mit.edu 37 1 67266887 67266887 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:67266887G>A uc001dcw.3 - 0 56 c.18C>T c.(16-18)ttC>ttT p.F6F NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN Homo sapiens insulin-like 5 (INSL5), mRNA. 6 extracellular region hormone activity breast(2)|endometrium(1)|lung(5) 8 AAAACAGAGTGAAAATGGAGC 0.408000 15 12 0 0 0.001368 0 0 KPRP 448834 broad.mit.edu 37 1 152732712 152732712 + Silent SNP C T T rs138779194 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152732712C>T uc001fal.1 + 1 706 c.648C>T c.(646-648)agC>agT p.S216S KPRP_uc021ozf.1_Silent_p.S216S NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 216 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTACAGCAGCTGTTTCCCTC 0.562000 77 28 0 0 0.002096 0 0 RYR1 6261 broad.mit.edu 37 19 39008001 39008001 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:39008001C>T uc002oit.3 + 65 9818 c.9688C>T c.(9688-9690)Ctg>Ttg p.L3230L RYR1_uc002oiu.3_Silent_p.L3230L|RYR1_uc002oiv.1_Silent_p.L150L|RYR1_uc010xuf.1_Silent_p.L150L NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3230 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TACCCCAGTCCTGGGGCTCCC 0.637000 16 12 0 0 0.001368 0 0 NEDD4L 23327 broad.mit.edu 37 18 55992285 55992285 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:55992285C>T uc002lgy.3 + 8 854 c.571C>T c.(571-573)Cct>Tct p.P191S NEDD4L_uc002lgz.3_Missense_Mutation_p.P191S|NEDD4L_uc002lgx.3_Missense_Mutation_p.P191S|NEDD4L_uc010xee.1_Missense_Mutation_p.P70S|NEDD4L_uc002lhc.2_Missense_Mutation_p.P183S|NEDD4L_uc002lhd.2_Missense_Mutation_p.P70S|NEDD4L_uc002lhb.2_Missense_Mutation_p.P70S|NEDD4L_uc002lhe.2_Missense_Mutation_p.P183S|NEDD4L_uc002lhf.3_Missense_Mutation_p.P70S|NEDD4L_uc002lhg.3_Missense_Mutation_p.P70S|NEDD4L_uc002lhh.2_Missense_Mutation_p.P70S|NEDD4L_uc010dpm.1_Missense_Mutation_p.P42S NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA. 191 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGAGGAACTTCCTCCTCCTCC 0.498000 100 37 0 0 0.006999 0 0 STXBP5L 9515 broad.mit.edu 37 3 120924817 120924817 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:120924817C>T uc003eec.4 + 9 1065 c.925C>T c.(925-927)Ctt>Ttt p.L309F STXBP5L_uc011bji.2_Missense_Mutation_p.L309F NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 309 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TAAACCAATTCTTAAAGTAGA 0.284000 22 10 0 0 0.001855 0 0 LARP1B 55132 broad.mit.edu 37 4 129120688 129120688 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:129120688G>A uc003iga.3 + 15 2229 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K LARP1B_uc003igc.3_Missense_Mutation_p.E119K|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Non-coding_Transcript|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_5'UTR NM_018078 NP_060548 Q659C4 LAR1B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA. 700 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TCCTTCTCATGAACTTTTGAA 0.408000 17 7 0 0 0.003080 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361566 70361566 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:70361566C>T uc003hek.4 - 0 61 c.14G>A c.(13-15)tGg>tAg p.W5* UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Nonsense_Mutation_p.W5* NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 5 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AGCTGAAGTCCATTTCATAGA 0.448000 63 19 0 0 0.008871 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215754 8215754 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:8215754C>T uc002glc.3 + 1 552 c.397C>T c.(397-399)Ccc>Tcc p.P133S ARHGEF15_uc002glb.2_Missense_Mutation_p.P133S|ARHGEF15_uc002gld.3_Missense_Mutation_p.P133S|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P133S NM_173728 NP_776089 O94989 ARHGF_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA. 133 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GCCTCTGCTCCCCATGGCTGG 0.677000 64 17 0 0 0.004990 0 0 CLDN1 9076 broad.mit.edu 37 3 190026182 190026182 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:190026182G>A uc003fsh.3 - 3 760 c.520C>T c.(520-522)Ctc>Ttc p.L174F NM_021101 NP_066924 O95832 CLD1_HUMAN Homo sapiens claudin 1 (CLDN1), mRNA. 174 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) AGAAGGCAGAGAGAAGCAGCA 0.493000 38 9 0 0 0.006214 0 0 CFHR5 81494 broad.mit.edu 37 1 196977674 196977674 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196977674G>A uc001gts.4 + 9 1699 c.1571G>A c.(1570-1572)aGa>aAa p.R524K NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 524 Sushi 9. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TTAAAATGGAGAAACGATGGA 0.323000 18 13 0 0 0.001368 0 0 OR2B2 81697 broad.mit.edu 37 6 27879944 27879944 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:27879944C>T uc011dkw.2 - 0 231 c.154G>A c.(154-156)Gat>Aat p.D52N NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AGTTTGAAATCCACATGTGAC 0.393000 36 7 0 0 0.001984 0 0 TNIK 23043 broad.mit.edu 37 3 170912390 170912390 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:170912390G>A uc003fhh.2 - 4 686 c.341C>T c.(340-342)aCc>aTc p.T114I TNIK_uc003fhi.2_Missense_Mutation_p.T114I|TNIK_uc003fhj.2_Missense_Mutation_p.T114I|TNIK_uc003fhk.2_Missense_Mutation_p.T114I|TNIK_uc003fhl.2_Missense_Mutation_p.T114I|TNIK_uc003fhm.2_Missense_Mutation_p.T114I|TNIK_uc003fhn.2_Missense_Mutation_p.T114I|TNIK_uc003fho.2_Missense_Mutation_p.T114I NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA. 114 Protein kinase. Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.V113A(1) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GATCAGGTCGGTGACAGAGCC 0.463000 66 36 0 0 0.005524 0 0 NR2C2 7182 broad.mit.edu 37 3 15057667 15057668 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:15057667_15057668GG>AA uc003bzj.4 + 3 499_500 c.282_283GG>AA c.(280-285)acggat>acAAat p.D95N NR2C2_uc003bzi.3_Missense_Mutation_p.D114N NM_003298 NP_003289 P49116 NR2C2_HUMAN Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA. 95 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding p.Q95Q(1) breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGATTGTCACGGATTCTGCCTC 0.535000 48 18 0 0 0.004672 0 0 PAPPA 5069 broad.mit.edu 37 9 119115177 119115177 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:119115177C>T uc004bjn.3 + 15 4538 c.4157C>T c.(4156-4158)tCc>tTc p.S1386F PAPPA_uc011lxq.2_Missense_Mutation_p.S761F NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1386 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGCCTGGATCCTCTCGGAAG 0.517000 10 3 0 0 0.009096 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283232 7283232 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:7283232C>T uc003srb.2 + 3 1189 c.966C>T c.(964-966)ctC>ctT p.L322L C1GALT1_uc003sra.3_Silent_p.L322L NM_020156 NP_064541 Q9NS00 C1GLT_HUMAN Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA. 322 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TAGAATACCTCGTTTATCATC 0.353000 63 27 0 0 0.005443 0 0 GRHL2 79977 broad.mit.edu 37 8 102678844 102678844 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:102678844C>T uc010mbu.3 + 15 2121 c.1791C>T c.(1789-1791)atC>atT p.I597I NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 597 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATGACAACATCATCGAGCACT 0.547000 26 12 0 0 0.000978 0 0 PGM1 5236 broad.mit.edu 37 1 64120092 64120092 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:64120092C>T uc010ooz.2 + 9 1853 c.1608C>T c.(1606-1608)atC>atT p.I536I PGM1_uc001dbh.3_Silent_p.I518I|PGM1_uc010ooy.2_Silent_p.I321I NM_001172818 NP_001166290 P36871 PGM1_HUMAN Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA. 518 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GGCTGTACATCGATAGCTATG 0.532000 22 11 0 0 0.000978 0 0 PRSS1 5644 broad.mit.edu 37 7 142460361 142460361 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142460361G>A uc003wak.2 + 3 551 c.534G>A c.(532-534)aaG>aaA p.K178K TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.K118K NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 178 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACCCTGGAAAGATTACCAGCA 0.542000 116 42 0 0 0.008740 0 0 GALR1 2587 broad.mit.edu 37 18 74980684 74980684 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:74980684G>A uc002lms.4 + 2 1373 c.876G>A c.(874-876)gcG>gcA p.A292A NM_001480 NP_001471 P47211 GALR1_HUMAN Homo sapiens galanin receptor 1 (GALR1), mRNA. 292 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.L291Q(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) ACTGCCTGGCGTACAGCAATT 0.493000 38 22 0 0 0.001882 0 0 TP63 8626 broad.mit.edu 37 3 189526315 189526315 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:189526315G>A uc003fry.2 + 4 668 c.579_splice c.e4+1 p.T193_splice TP63_uc003frx.2_Splice_Site_p.T193_splice|TP63_uc003frz.2_Splice_Site_p.T193_splice|TP63_uc010hzc.1_Splice_Site_p.T193_splice|TP63_uc003fsa.2_Splice_Site_p.T99_splice|TP63_uc003fsb.2_Splice_Site_p.T99_splice|TP63_uc003fsc.2_Splice_Site_p.T99_splice|TP63_uc003fsd.2_Splice_Site_p.T99_splice|TP63_uc021xir.1_Splice_Site_p.T99_splice|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Splice_Site_p.T74_splice NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 193 T -> TP (in SHFM4). 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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCACCTGGACGGTAAGAGCAG 0.617000 HNSCC(45;0.13) 23 12 0 0 0.003163 0 0 ASB2 51676 broad.mit.edu 37 14 94420818 94420818 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94420818G>A uc001ycd.3 - 3 693 c.323C>T c.(322-324)cCc>cTc p.P108L ASB2_uc001ycc.2_Missense_Mutation_p.P60L|ASB2_uc001yce.1_Missense_Mutation_p.P6L NM_001202429 NP_001189358 Q96Q27 ASB2_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA. 60 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CTTTATCAAGGGGTCCGCAGG 0.597000 56 19 0 0 0.001882 0 0 MRE11A 4361 broad.mit.edu 37 11 94204874 94204874 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:94204874G>A uc009ywj.2 - 7 1040 c.720C>T c.(718-720)ttC>ttT p.F240F MRE11A_uc001peu.2_Silent_p.F237F|MRE11A_uc001pev.2_Silent_p.F237F P49959 MRE11_HUMAN Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA. 237 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CAAGATCAATGAAGTCATCCA 0.343000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 22 15 0 0 0.003163 0 0 ZFP42 132625 broad.mit.edu 37 4 188924167 188924167 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:188924167C>T uc003izh.1 + 3 614 c.206C>T c.(205-207)tCa>tTa p.S69L ZFP42_uc003izi.1_Missense_Mutation_p.S69L|ZFP42_uc021xvm.1_Missense_Mutation_p.S69L NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 69 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GATGATTTCTCAGACTGTTAC 0.498000 32 10 0 0 0.000978 0 0 EPHB1 2047 broad.mit.edu 37 3 134851570 134851570 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:134851570C>T uc003eqt.3 + 4 1351 c.976C>T c.(976-978)Ccc>Tcc p.P326S EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Silent_p.V214V|EPHB1_uc003equ.3_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 326 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCCATCAGGTCCCCGCAATGT 0.547000 15 4 0 0 0.009096 0 0 CLCA4 22802 broad.mit.edu 37 1 87036790 87036790 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:87036790G>A uc009wcs.3 + 7 1257 c.1213G>A c.(1213-1215)Gga>Aga p.G405R CLCA4_uc009wct.3_Missense_Mutation_p.G168R|CLCA4_uc009wcu.3_Missense_Mutation_p.G225R NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA. 405 VWFA. apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CCAACTCGATGGATCCGAAGT 0.418000 82 40 0 0 0.002522 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734739 37734739 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:37734739G>A uc003xkm.2 - 1 758 c.702C>T c.(700-702)tcC>tcT p.S234S RAB11FIP1_uc003xkn.2_Silent_p.S234S|RAB11FIP1_uc003xkp.1_Silent_p.S82S NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 234 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GGACAGACATGGACTGGGAAA 0.453000 45 23 0 0 0.004656 0 0 PLCH1 23007 broad.mit.edu 37 3 155200524 155200524 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:155200524C>T uc021xge.1 - 22 3592 c.3315G>A c.(3313-3315)gtG>gtA p.V1105V PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.V1067V NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1105 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTTGATTTTCACACCATGCA 0.478000 77 32 0 0 0.008361 0 0 MAP3K12 7786 broad.mit.edu 37 12 53879933 53879933 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53879933G>A uc001sdn.2 - 3 999 c.728C>T c.(727-729)cCc>cTc p.P243L MAP3K12_uc001sdm.2_Missense_Mutation_p.P210L NM_001193511 NP_001180440 Q12852 M3K12_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA. 210 Protein kinase. JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CAGTAAGGAGGGGGTGACAGG 0.592000 41 21 0 0 0.003330 0 0 OR8D2 283160 broad.mit.edu 37 11 124189926 124189926 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:124189926G>A uc010sah.2 - 0 168 c.168C>T c.(166-168)taC>taT p.Y56Y NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ACACTGGAGGGTAAAGTTGAG 0.438000 22 11 0 0 0.008291 0 0 ADCY8 114 broad.mit.edu 37 8 132051923 132051923 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:132051923G>A uc003ytd.4 - 0 913 c.657C>T c.(655-657)ttC>ttT p.F219F ADCY8_uc010mds.3_Silent_p.F219F NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 219 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAATGCCGGTGAAGAAGCCCA 0.622000 HNSCC(32;0.087) 25 16 0 0 0.004007 0 0 TM4SF18 116441 broad.mit.edu 37 3 149040220 149040220 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:149040220G>A uc021xfl.1 - 3 504 c.414C>T c.(412-414)ttC>ttT p.F138F TM4SF18_uc003exa.3_Silent_p.F138F NM_001184723 NP_620141 Q96CE8 T4S18_HUMAN Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA. 138 integral to membrane lung(1)|ovary(1)|prostate(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AATCTGTAAGGAAACTGAGAG 0.393000 16 8 0 0 0.000978 0 0 PAPPA2 60676 broad.mit.edu 37 1 176681099 176681099 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:176681099G>A uc001gkz.3 + 11 4944 c.3780G>A c.(3778-3780)gaG>gaA p.E1260E PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1260 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGAAGAAAGAGGATGAGGTTT 0.468000 23 6 0 0 0.001984 0 0 ANO4 121601 broad.mit.edu 37 12 101493365 101493365 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:101493365G>A uc010svm.1 + 21 2588 c.2016G>A c.(2014-2016)caG>caA p.Q672Q ANO4_uc001thw.2_Silent_p.Q637Q|ANO4_uc001thx.2_Silent_p.Q672Q|ANO4_uc001thy.2_Silent_p.Q192Q NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 672 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GGTTAATTCAGAATTGGTGGA 0.343000 HNSCC(74;0.22) 32 22 0 0 0.003954 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655068 31655068 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:31655068G>A uc002ynv.3 - 0 209 c.183C>T c.(181-183)tgC>tgT p.C61C NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA. 61 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AGGATTCTTGGCAGTAATCCA 0.512000 49 24 0 0 0.006320 0 0 WNT10A 80326 broad.mit.edu 37 2 219746962 219746962 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:219746962C>T uc002vjd.1 + 1 656 c.193C>T c.(193-195)Cca>Tca p.P65S NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA. 65 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTAACATTGCCAGGCCTGAG 0.607000 32 17 0 0 0.004990 0 0 OR13C5 138799 broad.mit.edu 37 9 107361157 107361157 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:107361157C>T uc011lvp.2 - 0 538 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GCTAGAATTTCACAGGTGAAA 0.423000 68 28 0 0 0.005443 0 0 FDX1L 112812 broad.mit.edu 37 19 10421288 10421288 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:10421288G>A uc002mny.1 - 4 445 c.426C>T c.(424-426)ctC>ctT p.L142L ZGLP1_uc002mnw.4_5'Flank|FDX1L_uc002mnx.1_Intron NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA. 142 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) TCTCCTGGAGGAGGGGGGCCA 0.632000 39 15 0 0 0.004007 0 0 RXFP1 59350 broad.mit.edu 37 4 159493972 159493972 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:159493972G>A uc003ipz.3 + 1 435 c.172G>A c.(172-174)Gat>Aat p.D58N RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Missense_Mutation_p.D58N|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.D58N|RXFP1_uc010iqm.3_Missense_Mutation_p.D58N|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 58 LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding p.D58D(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GAATCAGGCCGATGAGGACAA 0.532000 38 14 0 0 0.003163 0 0 ANO9 338440 broad.mit.edu 37 11 420587 420587 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:420587G>A uc001lpi.2 - 18 1747 c.1662C>T c.(1660-1662)ttC>ttT p.F554F ANO9_uc001lph.2_Silent_p.F247F|ANO9_uc010qvv.1_Silent_p.F410F NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN Homo sapiens anoctamin 9 (ANO9), mRNA. 554 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 AGGCGGCCACGAAGATGGTGG 0.692000 13 6 0 0 0.001984 0 0 OR2C3 81472 broad.mit.edu 37 1 247695676 247695676 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247695676G>A uc021pmb.1 - 0 138 c.138C>T c.(136-138)atC>atT p.I46I C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.I46I NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGACCAGAATGATGATGCCAT 0.488000 36 12 0 0 0.001855 0 0 SETBP1 26040 broad.mit.edu 37 18 42532839 42532839 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:42532839C>T uc010dni.3 + 3 3830 c.3534C>T c.(3532-3534)gcC>gcT p.A1178A NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 1178 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAGGCAAAGCCACAGGCTTCT 0.527000 Schinzel-Giedion syndrome 39 24 0 0 0.004656 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318466 30318466 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:30318466C>T uc009xle.2 - 2 748 c.611G>A c.(610-612)gGg>gAg p.G204E KIAA1462_uc001iux.3_Missense_Mutation_p.G204E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G66E NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 204 p.D203D(1) 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 CAGTCTCTCCCCATCTCCATC 0.483000 102 45 0 0 0.009718 0 0 NLRP4 147945 broad.mit.edu 37 19 56369516 56369516 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56369516G>A uc002qmd.4 + 2 1179 c.757G>A c.(757-759)Gag>Aag p.E253K NLRP4_uc002qmf.3_Missense_Mutation_p.E178K|NLRP4_uc010etf.3_Missense_Mutation_p.E84K NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 253 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGACTTGATGGAGAAACGGCC 0.572000 62 31 0 0 0.004289 0 0 OR4K2 390431 broad.mit.edu 37 14 20344656 20344656 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20344656C>T uc001vwh.1 + 0 230 c.230C>T c.(229-231)gCc>gTc p.A77V NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTTCTTTCGCCACCCCAAAG 0.413000 67 43 0 0 0.007835 0 0 COL13A1 1305 broad.mit.edu 37 10 71655329 71655329 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:71655329C>T uc001jql.3 + 11 1190 c.654C>T c.(652-654)caC>caT p.H218H COL13A1_uc021prz.1_Silent_p.H218H|COL13A1_uc021psa.1_Silent_p.H180H|COL13A1_uc021psb.1_Silent_p.H189H|COL13A1_uc001jqk.2_Silent_p.H218H|COL13A1_uc021psc.1_Silent_p.H218H|COL13A1_uc021psd.1_Silent_p.H218H|COL13A1_uc010qjf.2_Silent_p.H180H|COL13A1_uc021pse.1_Silent_p.H189H|COL13A1_uc021psf.1_Silent_p.H218H|COL13A1_uc021psg.1_Silent_p.H218H|COL13A1_uc021psh.1_Silent_p.H218H NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 218 Nonhelical region 2 (NC2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) AGTACCCACACCGGGTAAGTG 0.572000 34 15 0 0 0.004007 0 0 FOLR1 2348 broad.mit.edu 37 11 71906446 71906446 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71906446C>T uc001orz.2 + 3 576 c.300C>T c.(298-300)ttC>ttT p.F100F FOLR1_uc001osa.2_Silent_p.F100F|FOLR1_uc001osb.2_Silent_p.F100F|FOLR1_uc001osd.2_Silent_p.F100F NM_016724 NP_057941 P15328 FOLR1_HUMAN Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA. 100 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 AACGGCATTTCATCCAGGACA 0.547000 111 36 0 0 0.008740 0 0 MLIP 90523 broad.mit.edu 37 6 54025203 54025203 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54025203G>A uc011dxa.2 + 5 2361 c.2328G>A c.(2326-2328)aaG>aaA p.K776K MLIP_uc003pcf.2_Silent_p.K765K|MLIP_uc003pcg.4_Silent_p.K241K|MLIP_uc003pch.4_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 241 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GTGTCTCCAAGGACAACACAT 0.403000 11 5 0 0 0.000602 0 0 SLC30A8 169026 broad.mit.edu 37 8 118174023 118174023 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:118174023G>A uc003yoh.3 + 4 849 c.619G>A c.(619-621)Gaa>Aaa p.E207K SLC30A8_uc010mcz.3_Missense_Mutation_p.E158K|SLC30A8_uc003yog.3_Missense_Mutation_p.E158K|SLC30A8_uc011lia.2_Missense_Mutation_p.E158K|SLC30A8_uc022bab.1_Missense_Mutation_p.E158K|Metazoa_SRP_uc022bac.1_5'Flank NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 207 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CAATCACAAGGAAGTACAAGC 0.428000 195 80 0 0 0.003610 0 0 TAP2 6891 broad.mit.edu 37 6 32798510 32798510 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32798510C>T uc011dqf.1 - 7 1468 c.1346G>A c.(1345-1347)cGa>cAa p.R449Q TAP2_uc003ocb.1_Missense_Mutation_p.R449Q|TAP2_uc003occ.3_Missense_Mutation_p.R449Q|TAP2_uc003ocd.3_Missense_Mutation_p.R449Q NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 449 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding ATTTGGCTGTCGGTCCATGTA 0.542000 20 8 0 0 0.008291 0 0 PCLO 27445 broad.mit.edu 37 7 82546143 82546143 + Missense_Mutation SNP A C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:82546143A>C uc003uhx.2 - 6 11448 c.11159T>G c.(11158-11160)gTt>gGt p.V3720G PCLO_uc003uhv.2_Missense_Mutation_p.V3720G|PCLO_uc010lec.3_Missense_Mutation_p.V685G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3651 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGTTCTTTTAACTTTTTTCTG 0.383000 54 23 0 0 0.009535 0 0 ITGAE 3682 broad.mit.edu 37 17 3655001 3655001 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:3655001G>A uc002fwo.4 - 14 1935 c.1836C>T c.(1834-1836)ttC>ttT p.F612F NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 612 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ACACACTGCCGAAGCTGGCAC 0.612000 56 18 0 0 0.006122 0 0 SAMD9 54809 broad.mit.edu 37 7 92730772 92730772 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:92730772C>T uc003umf.3 - 2 4909 c.4639G>A c.(4639-4641)Gaa>Aaa p.E1547K SAMD9_uc003umg.3_Missense_Mutation_p.E1547K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1547K NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1547 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTGATTTTTTCATTGATTCCA 0.388000 27 15 0 0 0.002450 0 0 PTPRK 5796 broad.mit.edu 37 6 128326357 128326357 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:128326357C>T uc003qbk.3 - 14 2730 c.2363G>A c.(2362-2364)gGg>gAg p.G788E PTPRK_uc010kfc.3_Missense_Mutation_p.G789E|PTPRK_uc003qbj.3_Missense_Mutation_p.G789E|PTPRK_uc011ebu.2_Missense_Mutation_p.G789E|PTPRK_uc003qbl.1_Missense_Mutation_p.G683E|PTPRK_uc011ebv.1_Missense_Mutation_p.G799E|PTPRK_uc010kfd.1_Missense_Mutation_p.G2E NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 788 cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.A787V(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCGGGTATTCCCCATGGCATC 0.463000 28 14 0 0 0.004007 0 0 OR10H1 26539 broad.mit.edu 37 19 15917966 15917966 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15917966C>T uc002nbq.2 - 0 971 c.882G>A c.(880-882)agG>agA p.R294R NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 GCTCCTTGTTCCTGAGGCTGA 0.478000 25 6 0 0 0.001168 0 0 BDKRB2 624 broad.mit.edu 37 14 96703495 96703495 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:96703495C>T uc010avm.1 + 1 247 c.51C>T c.(49-51)tcC>tcT p.S17S BDKRB2_uc010avl.2_Missense_Mutation_p.P77L|BDKRB2_uc010twu.1_5'UTR|BDKRB2_uc001yfg.2_Silent_p.S17S NM_000623 NP_000614 P30411 BKRB2_HUMAN Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA. 17 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GTGAGGACTCCGTGCCCACCA 0.532000 48 30 0 0 0.002445 0 0 OR13G1 441933 broad.mit.edu 37 1 247836268 247836268 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247836268G>A uc001idi.1 - 0 76 c.76C>T c.(76-78)Ctc>Ttc p.L26F NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGAAAAAAGAGGAAGATAATT 0.418000 23 14 0 0 0.003163 0 0 SLAIN1 122060 broad.mit.edu 37 13 78293711 78293711 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:78293711C>T uc010thy.1 + 1 222 c.179C>T c.(178-180)tCc>tTc p.S60F SLAIN1_uc001vkk.2_5'UTR NM_001040153 NP_653196 Q8ND83 SLAI1_HUMAN Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA. 202 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TCAGAGAAATCCCTGACTCCT 0.418000 32 8 0 0 0.003080 0 0 JPH1 56704 broad.mit.edu 37 8 75227454 75227454 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:75227454C>T uc003yae.3 - 1 821 c.781G>A c.(781-783)Gat>Aat p.D261N JPH1_uc003yaf.3_Missense_Mutation_p.D261N|JPH1_uc003yag.1_Missense_Mutation_p.D125N NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 261 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CAATCTACATCGCCAAAGCTG 0.567000 38 14 0 0 0.001855 0 0 ABCA4 24 broad.mit.edu 37 1 94473808 94473808 + Missense_Mutation SNP C T T rs142253670 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:94473808C>T uc001dqh.3 - 41 5985 c.5881G>A c.(5881-5883)Gga>Aga p.G1961R ABCA4_uc001dqi.1_Missense_Mutation_p.G80R NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1961 ABC transporter 2. G -> E (in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGGCGAACTCCGACACACAGC 0.562000 41 13 0 0 0.002450 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136196 92136196 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:92136196G>A uc001xzs.1 - 13 1389 c.1249C>T c.(1249-1251)Cat>Tat p.H417Y CATSPERB_uc010aub.1_5'UTR NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 417 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.H417Y(2) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTCGGGGATGAAATACCATT 0.408000 25 7 0 0 0.001984 0 0 LCE1A 353131 broad.mit.edu 37 1 152800038 152800038 + Silent SNP C T T rs4990420 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152800038C>T uc010pdw.2 + 0 90 c.90C>T c.(88-90)ccC>ccT p.P30P NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN Homo sapiens late cornified envelope 1A (LCE1A), mRNA. 30 Cys-rich. keratinization p.P30S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ctaagtgccccccaaagtgtc 0.672000 34 13 0 0 0.001855 0 0 MFSD2A 84879 broad.mit.edu 37 1 40422863 40422863 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:40422863C>T uc001cev.3 + 1 379 c.198C>T c.(196-198)ttC>ttT p.F66F MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.3_Silent_p.F66F|MFSD2A_uc010ojc.2_Intron|MFSD2A_uc009vvy.3_Non-coding_Transcript NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA. 66 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGGGTTTCTTCCTTCAGATCT 0.527000 105 40 0 0 0.006999 0 0 STRA13 201254 broad.mit.edu 37 17 79980701 79980702 + Splice_Site DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:79980701_79980702CC>TT uc002kdc.3 - 1 72 c.36_splice c.e1+1 p.K12_splice STRA13_uc002kdd.3_Splice_Site|LRRC45_uc002kde.3_5'Flank NM_144998 NP_659435 A8MT69 CENPX_HUMAN Homo sapiens stimulated by retinoic acid 13 homolog (mouse) (STRA13), mRNA. 12 DNA repair Fanconi anaemia nuclear complex|chromosome, centromeric region DNA binding|protein binding all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCGGCCCTCACCTTCCGGAAGC 0.743000 3 5 0 0 0.004672 0 0 MTUS2 23281 broad.mit.edu 37 13 29599514 29599514 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:29599514G>A uc001usl.4 + 0 767 c.709G>A c.(709-711)Gca>Aca p.A237T NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 227 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CGCTGTCCCGGCAGCTTTCCC 0.587000 28 16 0 0 0.004007 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68139385 68139385 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:68139385G>A uc003xxo.2 - 26 4293 c.3903C>T c.(3901-3903)acC>acT p.T1301T ARFGEF1_uc003xxl.1_Silent_p.T755T|ARFGEF1_uc003xxn.2_Silent_p.T284T NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 1301 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CAATGTGCCCGGTTGTTTGGA 0.373000 23 9 0 0 0.006214 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951845 119951845 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:119951845C>T uc010inb.3 + 3 2111 c.1915C>T c.(1915-1917)Ccg>Tcg p.P639S SYNPO2_uc010ina.3_Missense_Mutation_p.P639S|SYNPO2_uc003icm.4_Missense_Mutation_p.P639S|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P567S|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 639 Pro-rich. Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGTTTCAAGTCCGATTGCTGG 0.592000 38 15 0 0 0.003163 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140203619 140203619 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140203619G>A uc003lhl.2 + 0 2259 c.2259G>A c.(2257-2259)agG>agA p.R753R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.R753R|PCDHAC2_uc003lhj.1_Silent_p.R753R NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 791 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCAGAGGAGACAGAGGG 0.632000 35 18 0 0 0.004990 0 0 LILRB1 10859 broad.mit.edu 37 19 55143633 55143633 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55143633G>A uc002qgj.3 + 5 946 c.606G>A c.(604-606)tcG>tcA p.S202S LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.S202S|LILRB1_uc002qgk.3_Silent_p.S202S|LILRB1_uc002qgm.3_Silent_p.S202S|LILRB1_uc010erq.3_Silent_p.S202S|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 202 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTTATGACTCGAACTCTCCCT 0.602000 HNSCC(37;0.09) 69 27 0 0 0.008361 0 0 RPS3 6188 broad.mit.edu 37 11 75115202 75115202 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:75115202T>C uc001owh.3 + 4 519 c.489T>C c.(487-489)ccT>ccC p.P163P SNORD15B_uc001owl.1_5'Flank NM_001005 NP_000996 P23396 RS3_HUMAN Homo sapiens ribosomal protein S3 (RPS3), mRNA. 163 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane DNA-(apurinic or apyrimidinic site) lyase activity|NF-kappaB binding|damaged DNA binding|endonuclease activity|iron-sulfur cluster binding|mRNA binding|protein kinase binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 GCGGAGACCCTGTTAACTACT 0.537000 26 22 0 0 0.002299 0 0 OR10A5 144124 broad.mit.edu 37 11 6867102 6867102 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6867102C>T uc001met.1 + 0 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_178168 NP_835462 Q9H207 O10A5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGTACTTCTTCCTCAGAAACT 0.473000 82 35 0 0 0.003610 0 0 ODZ4 26011 broad.mit.edu 37 11 78413036 78413036 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:78413036G>A uc001ozl.4 - 27 5085 c.4622C>T c.(4621-4623)tCc>tTc p.S1541F NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1541 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 CACAGCCAAGGAAGATGGGGT 0.502000 23 8 0 0 0.003080 0 0 HYDIN 54768 broad.mit.edu 37 16 70891771 70891771 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:70891771G>A uc002ezr.3 - 71 12280 c.12129C>T c.(12127-12129)atC>atT p.I4043I HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4044 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACTGGAACACGATCTAACAAG 0.478000 54 4 0 0 0.000602 0 0 ATP13A5 344905 broad.mit.edu 37 3 193029616 193029616 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:193029616A>G uc011bsq.2 - 19 2434 c.2434T>C c.(2434-2436)Ttg>Ctg p.L812L NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 812 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TTTGGAAGCAAGCTGTTGAAA 0.423000 17 15 0 0 0.004990 0 0 NXPH1 30010 broad.mit.edu 37 7 8791333 8791333 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:8791333A>T uc003srv.3 + 2 1661 c.750A>T c.(748-750)aaA>aaT p.K250N NXPH1_uc011jxh.2_Missense_Mutation_p.K133N NM_152745 NP_689958 P58417 NXPH1_HUMAN Homo sapiens neurexophilin 1 (NXPH1), mRNA. 250 V (Cys-rich). extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CAGATTATAAACTGGTACAGA 0.458000 15 10 0 0 0.008291 0 0 ZIM3 114026 broad.mit.edu 37 19 57646543 57646543 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:57646543C>T uc002qnz.1 - 4 1548 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E388G(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAGGGCTTTTCCCCAGTATGG 0.388000 67 17 0 0 0.004007 0 0 SMAD1 4086 broad.mit.edu 37 4 146460988 146460988 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:146460988G>A uc003ikc.3 + 2 849 c.433G>A c.(433-435)Gaa>Aaa p.E145K SMAD1_uc003ikd.3_Missense_Mutation_p.E145K|SMAD1_uc010iov.3_Missense_Mutation_p.E145K|SMAD1_uc011cic.2_Missense_Mutation_p.E145K|SMAD1_uc003ikf.3_Non-coding_Transcript NM_005900 NP_005891 Q15797 SMAD1_HUMAN Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA. 145 BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity p.S144G(1) endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) AAGACACAGCGAATATAATCC 0.413000 27 11 0 0 0.001368 0 0 NOBOX 135935 broad.mit.edu 37 7 144098513 144098513 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:144098513C>T uc022aoj.1 - 3 470 c.470G>A c.(469-471)aGa>aAa p.R157K NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 157 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CGGGCACAGTCTCCCAGCATC 0.637000 33 14 0 0 0.002450 0 0 CDCP1 64866 broad.mit.edu 37 3 45127293 45127293 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:45127293G>A uc003com.3 - 8 2483 c.2348C>T c.(2347-2349)gCc>gTc p.A783V NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 783 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TGCAGTTGGGGCCCTGGAGCA 0.622000 42 14 0 0 0.002450 0 0 MYH2 4620 broad.mit.edu 37 17 10429959 10429959 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10429959C>T uc010coi.3 - 29 4272 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1382K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1382 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.Y1381C(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCGTCCGTCTCGTATTTGGTC 0.532000 87 43 0 0 0.003610 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715802 68715802 + Missense_Mutation SNP G T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:68715802G>T uc003jwq.3 + 1 664 c.590G>T c.(589-591)gGt>gTt p.G197V MARVELD2_uc010ixf.3_Missense_Mutation_p.G197V|MARVELD2_uc003jws.1_Non-coding_Transcript NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA. 197 MARVEL. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) AGAATACTGGGTGTGGTGGAG 0.493000 75 28 4.22769e-11 4.31607e-11 0.006320 1 0 C1orf173 127254 broad.mit.edu 37 1 75037506 75037506 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:75037506C>T uc001dgg.3 - 13 4107 c.3888G>A c.(3886-3888)gaG>gaA p.E1296E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1296 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGTCCTCTTCCTCCTCTGGGT 0.532000 75 28 0 0 0.006320 0 0 XIRP2 129446 broad.mit.edu 37 2 168107877 168107877 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:168107877C>T uc002udx.3 + 8 10064 c.9975C>T c.(9973-9975)ttC>ttT p.F3325F XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F3150F|XIRP2_uc010fpq.3_Silent_p.F3103F|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3150 actin cytoskeleton organization cell junction actin binding p.F3325V(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGAAAATTTCGTGAATGACC 0.448000 40 13 0 0 0.001855 0 0 C8B 732 broad.mit.edu 37 1 57399040 57399040 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:57399040G>A uc001cyp.3 - 9 1587 c.1520C>T c.(1519-1521)cCc>cTc p.P507L C8B_uc010oon.2_Missense_Mutation_p.P445L|C8B_uc010ooo.2_Missense_Mutation_p.P455L NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 507 EGF-like. 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 TCCTTGGCAGGGAGCACAGTG 0.552000 44 17 0 0 0.006122 0 0 STYK1 55359 broad.mit.edu 37 12 10783863 10783863 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:10783863C>T uc001qys.2 - 4 753 c.232G>A c.(232-234)Gga>Aga p.G78R NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 78 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CCTCCATGTCCTGCTTCCCAG 0.562000 HNSCC(73;0.22) 49 24 0 0 0.002299 0 0 CPS1 1373 broad.mit.edu 37 2 211447396 211447396 + Missense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:211447396C>A uc010fur.3 + 6 684 c.602C>A c.(601-603)cCa>cAa p.P201Q CPS1_uc002vee.4_Missense_Mutation_p.P195Q NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 195 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.I201N(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTTGTGGATCCAAATAAACAG 0.338000 39 10 0.00185496 0.00188231 0.001855 1 0 PXDNL 137902 broad.mit.edu 37 8 52384800 52384800 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:52384800G>A uc003xqu.4 - 7 860 c.759C>T c.(757-759)ttC>ttT p.F253F NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 253 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCCGGCAGGTGAAGTAGACGG 0.443000 72 29 0 0 0.003271 0 0 PLG 5340 broad.mit.edu 37 6 161123340 161123340 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:161123340G>A uc003qtm.4 + 0 116 c.4G>A c.(4-6)Gaa>Aaa p.E2K PLG_uc021zhr.1_Missense_Mutation_p.E2K NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 2 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCCCAAAATGGAACATAAGGA 0.373000 64 14 0 0 0.007413 0 0 C1orf173 127254 broad.mit.edu 37 1 75038256 75038256 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:75038256C>T uc001dgg.3 - 13 3357 c.3138G>A c.(3136-3138)agG>agA p.R1046R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1046 Glu-rich. p.R1046S(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AAATTTCTTTCCTATCATCTT 0.453000 82 32 0 0 0.003755 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880252 42880252 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:42880252C>T uc001chi.2 + 4 921 c.783C>T c.(781-783)ctC>ctT p.L261L NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA. 261 ATP-grasp. protein modification process cytoplasm ATP binding|acid-amino acid ligase activity|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 GCATTGATCTCCTTATCATGG 0.517000 146 63 0 0 0.003610 0 0 OBSCN 84033 broad.mit.edu 37 1 228473858 228473858 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228473858C>T uc009xez.1 + 33 9128 c.9084C>T c.(9082-9084)atC>atT p.I3028I OBSCN_uc001hsn.3_Silent_p.I3028I|OBSCN_uc001hsq.1_Silent_p.I284I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3028 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTTGCCGGATCTCCCCGGCCA 0.627000 10 6 0 0 0.001168 0 0 UBE2V2 7336 broad.mit.edu 37 8 48962467 48962468 + Missense_Mutation DNP CC AT AT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:48962467_48962468CC>AT uc003xqm.3 + 2 240_241 c.220_221CC>AT c.(220-222)cca>ATa p.P74I NM_003350 NP_003341 Q15819 UB2V2_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2 variant 2 (UBE2V2), mRNA. 74 DNA double-strand break processing|cell proliferation|protein polyubiquitination|regulation of DNA repair UBC13-MMS2 complex|cytoplasm|nucleus acid-amino acid ligase activity|protein binding large_intestine(1)|lung(2) 3 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196) ACCTAAATACCCAGAAGCTCCT 0.297000 Rad6 pathway 22 6 0 0 0.004672 0 0 CNTN4 152330 broad.mit.edu 37 3 3072565 3072565 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:3072565C>T uc003bpc.3 + 15 2028 c.1689C>T c.(1687-1689)atC>atT p.I563I CNTN4_uc003bpb.1_Silent_p.I234I|CNTN4_uc021wsg.1_Silent_p.I563I|CNTN4_uc003bpd.1_Silent_p.I563I|CNTN4_uc003bpe.3_Silent_p.I235I|CNTN4_uc003bpf.3_Silent_p.I234I NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 563 Ig-like C2-type 6. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATTTGATGATCCGAAACATCC 0.433000 20 7 0 0 0.004482 0 0 AADACL3 126767 broad.mit.edu 37 1 12785267 12785267 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12785267C>T uc009vnn.1 + 3 590 c.357C>T c.(355-357)tcC>tcT p.S119S AADACL3_uc001aug.1_Silent_p.S49S NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA. 119 hydrolase activity p.S119S(1)|p.S49S(1) breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGAAGTCCCTGGATGCAT 0.512000 69 26 0 0 0.006320 0 0 NOS3 4846 broad.mit.edu 37 7 150695756 150695756 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150695756G>A uc003wif.3 + 6 1100 c.804G>A c.(802-804)gtG>gtA p.V268V NOS3_uc011kuy.2_Silent_p.V62V|NOS3_uc011kva.2_Silent_p.V268V|NOS3_uc011kuz.2_Silent_p.V268V|NOS3_uc011kvb.2_Silent_p.V268V NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 268 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CAGCCAACGTGGAGATCACCG 0.657000 13 6 0 0 0.001168 0 0 LRBA 987 broad.mit.edu 37 4 151773485 151773485 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:151773485G>A uc010ipj.3 - 22 3621 c.3377C>T c.(3376-3378)cCc>cTc p.P1126L LRBA_uc003ilt.4_5'Flank|LRBA_uc003ilu.4_Missense_Mutation_p.P1126L NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 1126 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GAGCTCTGTGGGTAGATTAGC 0.398000 28 12 0 0 0.002450 0 0 DPYD 1806 broad.mit.edu 37 1 97547948 97547948 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:97547948C>T uc001drv.3 - 21 2982 c.2845G>A c.(2845-2847)Gat>Aat p.D949N NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 949 4Fe-4S ferredoxin-type 2. 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTTCTTCATCAATCATAGCC 0.393000 47 26 0 0 0.005443 0 0 DMWD 1762 broad.mit.edu 37 19 46289693 46289693 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:46289693G>A uc002pdj.1 - 2 1107 c.1061C>T c.(1060-1062)tCc>tTc p.S354F DMWD_uc021uwc.1_Missense_Mutation_p.P8S|DMWD_uc010eko.1_Missense_Mutation_p.S39F NM_004943 NP_004934 Q09019 DMWD_HUMAN Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA. 354 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CTCGGTGAAGGACCACACGGT 0.647000 57 19 0 0 0.007413 0 0 HS1BP3 64342 broad.mit.edu 37 2 20838367 20838367 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:20838367G>A uc002rdw.1 - 3 493 c.452C>T c.(451-453)tCt>tTt p.S151F HS1BP3_uc002rdx.3_Missense_Mutation_p.S151F NM_022460 NP_071905 Q53T59 H1BP3_HUMAN Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA. 151 cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCAGGACAGAGGAATCTCT 0.562000 22 12 0 0 0.001855 0 0 TCP10L2 401285 broad.mit.edu 37 6 167585642 167585642 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:167585642G>A uc010kkp.3 + 1 141 c.10G>A c.(10-12)Ggt>Agt p.G4S NM_001145121 NP_001138593 B9ZVM9 B9ZVM9_HUMAN Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA. 4 endometrium(1)|kidney(2)|lung(3) 6 GATGCTGGAGGGTCAGCTCGA 0.657000 9 4 0 0 0.009096 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209184997 209184997 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:209184997C>T uc002vcz.3 + 16 2262 c.2104C>T c.(2104-2106)Ccc>Tcc p.P702S PIKFYVE_uc010fun.1_Missense_Mutation_p.P383S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P646S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 702 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TATTAAAAACCCCAAAATTCT 0.303000 55 15 0 0 0.003163 0 0 LAMA1 284217 broad.mit.edu 37 18 6975027 6975027 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:6975027G>A uc002knm.3 - 45 6592 c.6498C>T c.(6496-6498)ttC>ttT p.F2166F LAMA1_uc010wzj.2_Silent_p.F1642F NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2166 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACTGCAAGGAAATCAGACT 0.537000 9 7 0 0 0.003080 0 0 LRP1B 53353 broad.mit.edu 37 2 141215150 141215150 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:141215150C>T uc002tvj.1 - 60 10668 c.9696G>A c.(9694-9696)ggG>ggA p.G3232G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3232 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTTGGTTTTCCCATCAGTCC 0.428000 TSP Lung(27;0.18) 45 14 0 0 0.003163 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895592 24895592 + Missense_Mutation SNP G A A rs146807462 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:24895592G>A uc001upj.3 + 3 749 c.688G>A c.(688-690)Gaa>Aaa p.E230K SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 230 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CCTGTATAACGAATTCAACCA 0.428000 98 13 0 0 0.002450 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959158 10959158 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:10959158G>A uc010shh.2 - 0 422 c.422C>T c.(421-423)tCc>tTc p.S141F NM_023918 NP_076407 Q9NYW2 TA2R8_HUMAN Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA. 141 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GACCAACAAGGAAATGGCAAA 0.408000 16 5 0 0 0.001168 0 0 FAT3 120114 broad.mit.edu 37 11 92085367 92085367 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:92085367C>T uc001pdj.4 + 0 106 c.89C>T c.(88-90)tCc>tTc p.S30F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 30 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCACTGTCTCCCAGGGGCTG 0.512000 TCGA Ovarian(4;0.039) 446 176 0 0 0.003610 0 0 CD109 135228 broad.mit.edu 37 6 74528148 74528148 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74528148G>A uc003php.3 + 30 4380 c.3949G>A c.(3949-3951)Gaa>Aaa p.E1317K CD109_uc003phq.3_Missense_Mutation_p.E1300K|CD109_uc010kba.3_Missense_Mutation_p.E1240K NM_133493 NP_598000 Q6YHK3 CD109_HUMAN Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. 1317 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGCTCTTATGGAAGTTAACCT 0.423000 44 7 0 0 0.001984 0 0 SPTA1 6708 broad.mit.edu 37 1 158609395 158609395 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:158609395C>T uc001fst.1 - 34 5156 c.4957G>A c.(4957-4959)Gag>Aag p.E1653K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1653 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.L1652F(1)|p.L1652M(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATCTCTCTCTCCAATAGCTGA 0.483000 71 21 0 0 0.006320 0 0 SYCP1 6847 broad.mit.edu 37 1 115453118 115453118 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:115453118G>A uc001efr.3 + 16 1630 c.1421G>A c.(1420-1422)aGa>aAa p.R474K SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R474K|SYCP1_uc009wgw.3_Missense_Mutation_p.R474K NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 474 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCCAAGCCAGAGAGGTTTGT 0.264000 18 13 0 0 0.002450 0 0 COL5A2 1290 broad.mit.edu 37 2 189962046 189962046 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:189962046C>T uc002uqk.3 - 5 688 c.413G>A c.(412-414)gGa>gAa p.G138E NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 138 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCCTGTGATCCTGGAGGTCC 0.408000 24 9 0 0 0.008291 0 0 ASB5 140458 broad.mit.edu 37 4 177138124 177138124 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:177138124G>A uc003iuq.2 - 5 821 c.707C>T c.(706-708)cCa>cTa p.P236L ASB5_uc003iup.2_Missense_Mutation_p.P183L NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA. 236 intracellular signal transduction p.P236S(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AGCATGTAATGGAGTATCCCA 0.388000 66 24 0 0 0.003330 0 0 ZP2 7783 broad.mit.edu 37 16 21211163 21211163 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:21211163G>A uc010bwn.1 - 14 1903 c.1821C>T c.(1819-1821)ttC>ttT p.F607F ZP2_uc002dii.2_Silent_p.F577F NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 577 ZP. binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CGACTGGATGGAAGGTGGTCT 0.502000 50 17 0 0 0.007413 0 0 KCND2 3751 broad.mit.edu 37 7 120382645 120382645 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:120382645G>A uc003vjj.1 + 3 2421 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 486 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TCACTGCCTGGAAAAAACCAC 0.473000 38 20 0 0 0.001882 0 0 ITK 3702 broad.mit.edu 37 5 156670802 156670802 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:156670802G>A uc003lwo.1 + 11 1312 c.1230G>A c.(1228-1230)atG>atA p.M410I NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 410 Protein kinase. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGAAGTAATGATGTGAGTGC 0.493000 T SYK peripheral T-cell lymphoma 146 52 0 0 0.003610 0 0 OR2C1 4993 broad.mit.edu 37 16 3406086 3406086 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3406086C>T uc002cuw.1 + 0 198 c.146C>T c.(145-147)tCc>tTc p.S49F NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATCTTGCTTTCCCGCCTGGAG 0.512000 81 27 0 0 0.006320 0 0 OR4X2 119764 broad.mit.edu 37 11 48267238 48267238 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:48267238G>A uc001ngs.1 + 0 583 c.583G>A c.(583-585)Gga>Aga p.G195R NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G195V(1) breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGTTGCCAATGGAGGCACCCT 0.498000 94 43 0 0 0.002522 0 0 ASXL3 80816 broad.mit.edu 37 18 31323829 31323829 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:31323829C>T uc010dmg.1 + 11 4072 c.4017C>T c.(4015-4017)acC>acT p.T1339T ASXL3_uc002kxq.2_Silent_p.T1046T NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1339 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTCAGTACACCTCTGTGCCAA 0.463000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 115 39 0 0 0.008740 0 0 GDF5 8200 broad.mit.edu 37 20 34025183 34025183 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:34025183G>A uc010gfc.1 - 0 767 c.526C>T c.(526-528)Ctg>Ttg p.L176L GDF5_uc002xck.1_Silent_p.L176L NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 176 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GTCCTGTACAGCGAGAGCATG 0.612000 54 32 0 0 0.002836 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711179 140711179 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140711179G>A uc003lji.2 + 0 928 c.928G>A c.(928-930)Gaa>Aaa p.E310K PCDHGC5_uc011dan.2_Missense_Mutation_p.E310K NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 311 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTAGATTTCGAAGAATACAA 0.373000 15 10 0 0 0.006214 0 0 ZNF667 63934 broad.mit.edu 37 19 56953217 56953217 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56953217C>T uc002qne.3 - 6 1938 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K ZNF667_uc010etl.3_Missense_Mutation_p.E165K|ZNF667_uc002qnd.3_Missense_Mutation_p.E383K|ZNF667_uc010etm.3_Missense_Mutation_p.E326K NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA. 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TATAGTTTTTCTCCATTATGA 0.353000 29 15 0 0 0.002450 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:80328367G>A uc003hlu.3 - 0 1006 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 330 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTAGCCAACGAATAACAGCA 0.428000 53 14 0 0 0.003163 0 0 GRASP 160622 broad.mit.edu 37 12 52408956 52408956 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52408956C>T uc001rzo.1 + 7 1217 c.1161C>T c.(1159-1161)tcC>tcT p.S387S GRASP_uc001rzp.1_Silent_p.S244S NM_181711 NP_859062 Q7Z6J2 GRASP_HUMAN Homo sapiens GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein (GRASP), mRNA. 387 cell junction|perinuclear region of cytoplasm|postsynaptic membrane p.S387F(1) central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) TCAACCGCTCCCTGGAGGAGG 0.642000 27 4 0 0 0.001168 0 0 PLCL2 23228 broad.mit.edu 37 3 17052594 17052594 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:17052594G>A uc011awc.2 + 2 1828 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K PLCL2_uc011awd.2_Missense_Mutation_p.E460K NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 586 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGTTACTGACGAAGATGAAGG 0.423000 23 9 0 0 0.006214 0 0 IL17RC 84818 broad.mit.edu 37 3 9965687 9965687 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:9965687C>T uc003bua.3 + 7 1176 c.958C>T c.(958-960)Cgg>Tgg p.R320W CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.R224W|IL17RC_uc003btz.3_Missense_Mutation_p.R249W|IL17RC_uc011atp.2_Missense_Mutation_p.R105W|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.R249W|IL17RC_uc010hcu.3_Missense_Mutation_p.R249W|IL17RC_uc003bub.3_Missense_Mutation_p.R234W|IL17RC_uc010hcv.3_Missense_Mutation_p.R234W|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.R234W NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA. 320 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCCAAAACCCCGGTGGCACAA 0.577000 40 7 0 0 0.003080 0 0 MINOS1 440574 broad.mit.edu 37 1 19949983 19949983 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:19949983T>C uc021ohu.1 + 2 197 c.128T>C c.(127-129)tTa>tCa p.L43S MINOS1_uc001bch.2_Non-coding_Transcript|MINOS1_uc001bci.2_Missense_Mutation_p.L43S|MINOS1_uc021oht.1_Missense_Mutation_p.L27S|MINOS1_uc021ohv.1_Non-coding_Transcript|NBL1_uc021ohw.1_Intron|NBL1_uc009vpl.2_Intron NM_001204083 NP_001191012 Q5TGZ0 CA151_HUMAN Homo sapiens mitochondrial inner membrane organizing system 1 (MINOS1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. 43 integral to membrane|mitochondrion ATGTGGCCATTAGCCTTCGGT 0.393000 77 33 0 0 0.003271 0 0 OR51M1 390059 broad.mit.edu 37 11 5411136 5411136 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5411136C>T uc010qzc.2 + 0 530 c.508C>T c.(508-510)Cct>Tct p.P170S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 170 integral to membrane olfactory receptor activity p.I169>?(2)|p.P170H(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCACTATCCCTATTGTCCT 0.547000 124 49 0 0 0.003610 0 0 ZNF598 90850 broad.mit.edu 37 16 2052210 2052210 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:2052210C>T uc002cof.1 - 6 907 c.892G>A c.(892-894)Gag>Aag p.E298K TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN Homo sapiens zinc finger protein 598 (ZNF598), mRNA. 298 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 TGCTCACCCTCGTTCCGGCGC 0.692000 8 4 0 0 0.009096 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831772 2831773 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:2831772_2831773CC>TT uc003gfi.4 + 7 1259_1260 c.1139_1140CC>TT c.(1138-1140)ccc>cTT p.P380L SH3BP2_uc011bvp.2_Missense_Mutation_p.P408L|SH3BP2_uc003gfj.4_Missense_Mutation_p.P437L|SH3BP2_uc003gfk.4_Missense_Mutation_p.P380L|SH3BP2_uc003gfl.4_Missense_Mutation_p.P313L|SH3BP2_uc003gfm.4_Missense_Mutation_p.P355L NM_001122681 NP_003014 P78314 3BP2_HUMAN Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA. 380 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) TTTGTGCCCCCCGTGGCTCCCC 0.683000 Cherubism 33 11 0 0 0.004672 0 0 CD244 51744 broad.mit.edu 37 1 160832449 160832449 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160832449T>A uc009wtq.3 - 0 244 c.19A>T c.(19-21)Acc>Tcc p.T7S CD244_uc001fxa.3_Missense_Mutation_p.T7S|CD244_uc009wtr.3_Missense_Mutation_p.T7S|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript NM_001166663 NP_001160135 Q9BZW8 CD244_HUMAN Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA. 7 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGTATGAGGGTGACCACTTGC 0.642000 27 12 0 0 0.003163 0 0 TRA 0 broad.mit.edu 37 14 22192421 22192421 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:22192421C>T uc021rpa.1 + 1 324 c.196C>T c.(196-198)Ctt>Ttt p.L66F TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36. CCTCCAGTTCCTTCTGAAATA 0.448000 40 15 0 0 0.003163 0 0 MAPK4 5596 broad.mit.edu 37 18 48190536 48190536 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:48190536C>T uc002lev.3 + 1 1208 c.208C>T c.(208-210)Cgg>Tgg p.R70W MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.R70W NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 70 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CAAGATCATTCGGCGCCTGGA 0.607000 32 21 0 0 0.002780 0 0 TBC1D5 9779 broad.mit.edu 37 3 17226675 17226675 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:17226675G>A uc010hev.3 - 20 2108 c.1844C>T c.(1843-1845)tCc>tTc p.S615F TBC1D5_uc010heu.3_Missense_Mutation_p.S180F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S593F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 593 intracellular Rab GTPase activator activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 TTGAAGGAAGGAAATTTGGGC 0.368000 26 15 0 0 0.002450 0 0 C11orf73 51501 broad.mit.edu 37 11 86017395 86017395 + Missense_Mutation SNP C T T rs11539213 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:86017395C>T uc001pbu.3 + 1 377 c.139C>T c.(139-141)Cct>Tct p.P47S C11orf73_uc010rto.2_Intron|C11orf73_uc010rtp.2_Intron|C11orf73_uc001pbv.3_Non-coding_Transcript NM_016401 NP_057485 Q53FT3 CK073_HUMAN Homo sapiens chromosome 11 open reading frame 73 (C11orf73), transcript variant 1, mRNA. 47 P -> A (in dbSNP:rs11539213). cytoplasm kidney(1)|large_intestine(1)|urinary_tract(1) 3 Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556) AATCCCATTTCCTGAGGGAAT 0.423000 31 12 0 0 0.000978 0 0 IGSF9B 22997 broad.mit.edu 37 11 133807341 133807341 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:133807341T>C uc001qgx.4 - 4 840 c.609A>G c.(607-609)agA>agG p.R203R IGSF9B_uc001qgy.1_Silent_p.R45R NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 203 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGTAGGCACCTCTGTCCTCCC 0.607000 19 6 0 0 0.001984 0 0 NLRP10 338322 broad.mit.edu 37 11 7984979 7984979 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:7984979C>T uc001mfv.1 - 0 81 c.64G>A c.(64-66)Gag>Aag p.E22K NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 22 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAATCGTTCTCCTCAAGGTCA 0.567000 29 7 0 0 0.004482 0 0 KRT73 319101 broad.mit.edu 37 12 53005009 53005009 + Silent SNP C T T rs115352534 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53005009C>T uc001sas.3 - 5 1124 c.1089G>A c.(1087-1089)gaG>gaA p.E363E NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 363 Coil 2.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CACTCTCAATCTCCGAGCGCA 0.567000 41 22 0 0 0.002780 0 0 MAP3K4 4216 broad.mit.edu 37 6 161510469 161510469 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:161510469A>G uc003qtn.3 + 10 3081 c.2939A>G c.(2938-2940)cAg>cGg p.Q980R MAP3K4_uc010kkc.1_Missense_Mutation_p.Q980R|MAP3K4_uc003qto.3_Missense_Mutation_p.Q980R|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.Q433R|MAP3K4_uc003qtp.3_5'Flank NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 980 JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ACATCCAGTCAGCCGGTCATC 0.463000 106 25 0 0 0.008361 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430981 37430981 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:37430981G>A uc021ppc.1 + 6 1087 c.988G>A c.(988-990)Gag>Aag p.E330K ANKRD30A_uc001iza.1_Missense_Mutation_p.E330K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 386 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GATCGCATGGGAGAAAAAAGA 0.438000 44 24 0 0 0.004656 0 0 CERS6 253782 broad.mit.edu 37 2 169487543 169487543 + Silent SNP C T T rs146884858 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:169487543C>T uc002uec.1 + 3 580 c.456C>T c.(454-456)ttC>ttT p.F152F CERS6_uc002ueb.1_Silent_p.F152F NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 152 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity p.F152F(1) GAGTCAGATTCCTGAAAAAGG 0.294000 38 17 0 0 0.008871 0 0 OTUD4 54726 broad.mit.edu 37 4 146076605 146076605 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:146076605G>A uc003ika.4 - 9 774 c.636C>T c.(634-636)tcC>tcT p.S212S NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 276 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CAGCAGCAATGGAATAATCAC 0.299000 30 6 0 0 0.001984 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270515 153270515 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153270515C>T uc001fbn.1 - 6 996 c.943G>A c.(943-945)Ggc>Agc p.G315S NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 315 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCACTGTGGCCCATCAGCAGG 0.577000 164 53 0 0 0.003610 0 0 KIAA0564 23078 broad.mit.edu 37 13 42189183 42189183 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:42189183G>A uc001uyj.3 - 37 4719 c.4649C>T c.(4648-4650)tCc>tTc p.S1550F NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1550 extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GTGTTTGGGGGAGCTTACATC 0.493000 31 7 0 0 0.001984 0 0 SDSL 113675 broad.mit.edu 37 12 113865885 113865885 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:113865885C>T uc001tvi.3 + 2 305 c.98C>T c.(97-99)cCt>cTt p.P33L SDSL_uc009zwh.3_Missense_Mutation_p.P33L NM_138432 NP_612441 Q96GA7 SDSL_HUMAN Homo sapiens serine dehydratase-like (SDSL), mRNA. 33 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding p.P33P(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) GCGGGCATGCCTGTCTTCCTC 0.612000 11 6 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9088781 9088781 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9088781T>C uc002mkp.3 - 0 3238 c.3034A>G c.(3034-3036)Act>Gct p.T1012A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1012 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A1011T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATAGAAGTTGCTTCCATG 0.478000 91 41 0 0 0.008740 0 0 CD70 970 broad.mit.edu 37 19 6590921 6590921 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:6590921C>T uc010xjf.1 - 0 243 c.93G>A c.(91-93)gtG>gtA p.V31V CD70_uc002mfi.3_Silent_p.V31V NM_001252 NP_001243 P32970 CD70_HUMAN Homo sapiens CD70 molecule (CD70), mRNA. 31 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 CGAGGCAGATCACCAAGCCCG 0.642000 51 32 0 0 0.002836 0 0 CACNB4 785 broad.mit.edu 37 2 152727112 152727112 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:152727112G>A uc002tya.3 - 7 700 c.632C>T c.(631-633)cCt>cTt p.P211L CACNB4_uc002txy.3_Missense_Mutation_p.P177L|CACNB4_uc002txz.3_Missense_Mutation_p.P193L|CACNB4_uc010fnz.3_Missense_Mutation_p.P211L|CACNB4_uc021vre.1_Missense_Mutation_p.P177L|CACNB4_uc002tyb.2_Missense_Mutation_p.P177L NM_000726 NP_000717 O00305 CACB4_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA. 211 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) ATCGTAAGGAGGAATGTGCTC 0.463000 7 7 0 0 0.001984 0 0 OR4C46 119749 broad.mit.edu 37 11 51515548 51515548 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:51515548C>T uc010ric.2 + 0 267 c.267C>T c.(265-267)gcC>gcT p.A89A NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GAAAGAAGGCCATCCTATTCA 0.463000 74 29 0 0 0.007291 0 0 SCD5 79966 broad.mit.edu 37 4 83601897 83601897 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:83601897C>T uc003hna.2 - 2 852 c.532G>A c.(532-534)Gac>Aac p.D178N SCD5_uc003hnb.4_Missense_Mutation_p.D178N NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA. 178 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) GCAAGCAGGTCAGTGACGTCA 0.532000 39 18 0 0 0.006122 0 0 LNX1 84708 broad.mit.edu 37 4 54344801 54344801 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:54344801C>T uc003hag.4 - 7 1850 c.1594G>A c.(1594-1596)Gat>Aat p.D532N PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.D436N|LNX1_uc003hah.4_Non-coding_Transcript NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA. 532 PDZ 3. cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATAGGCAAATCCCATTCTCTA 0.443000 59 26 0 0 0.006320 0 0 GABRB1 2560 broad.mit.edu 37 4 47427930 47427930 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:47427930C>T uc003gxh.3 + 8 1694 c.1320C>T c.(1318-1320)atC>atT p.I440I GABRB1_uc011bze.2_Silent_p.I370I NM_000812 NP_000803 P18505 GBRB1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. 440 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGTCAAGATCCCCGACTTGA 0.562000 44 20 0 0 0.007413 0 0 B3GAT1 27087 broad.mit.edu 37 11 134253818 134253818 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:134253818C>T uc001qhq.3 - 3 638 c.377G>A c.(376-378)cGg>cAg p.R126Q B3GAT1_uc001qhr.3_Missense_Mutation_p.R126Q|B3GAT1_uc010scv.1_Missense_Mutation_p.R139Q NM_018644 NP_473366 Q9P2W7 B3GA1_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA. 126 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CAGCGGCGTCCGGCGCGGCGC 0.711000 11 6 0 0 0.001984 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622175 41622175 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:41622175G>A uc002opu.1 + 1 138 c.82G>A c.(82-84)Gga>Aga p.G28R CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.G28R|CYP2F1_uc002opv.1_Non-coding_Transcript NM_000774 NP_000765 P24903 CP2F1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA. 28 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 AAGAGATAAGGGAAAGCTGCC 0.567000 88 33 0 0 0.005524 0 0 USH2A 7399 broad.mit.edu 37 1 215844436 215844436 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:215844436C>T uc001hku.1 - 63 14398 c.14011G>A c.(14011-14013)Gaa>Aaa p.E4671K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 4671 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTATAATTCGTAATACAAA 0.418000 HNSCC(13;0.011) 59 16 0 0 0.003163 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41061813 41061813 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41061813G>A uc003jmj.4 - 5 964 c.474C>T c.(472-474)ttC>ttT p.F158F HEATR7B2_uc021xxt.1_Silent_p.F158F NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 158 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TGGCTTTGCTGAATTTCTCAA 0.418000 25 6 0 0 0.001168 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726721 8726721 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:8726721G>A uc002glq.1 - 13 1849 c.1609C>T c.(1609-1611)Cag>Tag p.Q537* PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA. 537 platelet activation cytosol GTGTAGATCTGGAAATAGATG 0.557000 17 7 0 0 0.001984 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281442 49281442 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:49281442G>A uc010acw.1 + 1 779 c.489G>A c.(487-489)tgG>tgA p.W163* CYSLTR2_uc010acx.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010acy.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010acz.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010ada.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010adb.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010adc.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc010add.1_Nonsense_Mutation_p.W163*|CYSLTR2_uc001vck.2_Nonsense_Mutation_p.W163*|CYSLTR2_uc021rjl.1_Nonsense_Mutation_p.W163* NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA. 163 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) GGATCATATGGATCCTTATCA 0.498000 64 20 0 0 0.002299 0 0 C4orf37 285555 broad.mit.edu 37 4 98480264 98480264 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:98480264G>A uc003htt.2 - 10 1415 c.1325C>T c.(1324-1326)tCc>tTc p.S442F NM_174952 NP_777612 Q8N412 CD037_HUMAN Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA. 442 cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) TTTCTCCTGGGATATCTGTTT 0.279000 61 22 0 0 0.003954 0 0 KIF1A 547 broad.mit.edu 37 2 241682373 241682373 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:241682373G>A uc010fzk.3 - 33 3860 c.3613C>T c.(3613-3615)Cct>Tct p.P1205S KIF1A_uc002vzy.3_Missense_Mutation_p.P1104S|KIF1A_uc002vzz.2_Missense_Mutation_p.P1205S NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 1104 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ATGACCCGAGGGAAGTGGCGG 0.662000 10 4 0 0 0.009096 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72165736 72165736 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:72165736C>T uc001xms.3 + 10 3774 c.3413C>T c.(3412-3414)tCc>tTc p.S1138F SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1138F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1138F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1138F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S613F NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1138 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACGGTCTCATCCATGGCTTTA 0.483000 34 18 0 0 0.007413 0 0 ERC2 26059 broad.mit.edu 37 3 56330430 56330430 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:56330430C>T uc021wzo.1 - 1 831 c.691G>A c.(691-693)Gag>Aag p.E231K ERC2_uc003dhr.1_Missense_Mutation_p.E231K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 231 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTTCGCAGCTCATCTTGAAGG 0.512000 36 15 0 0 0.002450 0 0 SNX33 257364 broad.mit.edu 37 15 75949417 75949417 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:75949417C>T uc002bau.3 + 1 1682 c.1586C>T c.(1585-1587)gCc>gTc p.A529V SNX33_uc002bav.3_Missense_Mutation_p.A142V NM_153271 NP_695003 Q8WV41 SNX33_HUMAN Homo sapiens sorting nexin 33 (SNX33), mRNA. 529 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GCCCTGCAGGCCGAGATGAAC 0.627000 33 19 0 0 0.010504 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837676 12837676 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12837676G>A uc001aui.3 + 2 1413 c.1386G>A c.(1384-1386)agG>agA p.R462R NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 462 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGGCATCAGGGCCTCCTATG 0.502000 64 21 0 0 0.002299 0 0 TRHDE 29953 broad.mit.edu 37 12 73012798 73012798 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:73012798G>A uc001sxa.3 + 12 2344 c.2314G>A c.(2314-2316)Gaa>Aaa p.E772K NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 772 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGACCGCATGGAAAACTACAA 0.333000 28 6 0 0 0.003080 0 0 PSEN1 5663 broad.mit.edu 37 14 73640349 73640349 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:73640349C>T uc001xnr.3 + 4 698 c.414C>T c.(412-414)atC>atT p.I138I PSEN1_uc001xnv.3_Silent_p.I134I|PSEN1_uc010ark.3_Silent_p.I134I|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript|PSEN1_uc001xnq.4_Silent_p.I138I NM_000021 NP_000012 P49768 PSN1_HUMAN Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA. 138 Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) ATGCTGCCATCATGATCAGTG 0.443000 44 21 0 0 0.010504 0 0 SORCS3 22986 broad.mit.edu 37 10 106924109 106924109 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:106924109C>T uc001kyi.1 + 11 2008 c.1781C>T c.(1780-1782)tCc>tTc p.S594F NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 594 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTGTTCATCTCCTCCGATGGG 0.438000 18 12 0 0 0.001855 0 0 C12orf63 374467 broad.mit.edu 37 12 97051840 97051840 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:97051840G>A uc021rcc.1 + 3 634 c.556G>A c.(556-558)Gaa>Aaa p.E186K Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 186 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GGAAAAATGGGAAACACTAGT 0.333000 31 9 0 0 0.006214 0 0 ACER1 125981 broad.mit.edu 37 19 6312490 6312490 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:6312490G>A uc002mel.2 - 1 192 c.114C>T c.(112-114)ttC>ttT p.F38F NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN Homo sapiens alkaline ceramidase 1 (ACER1), mRNA. 38 endoplasmic reticulum membrane|integral to membrane ceramidase activity p.F38fs*6(1) NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GCCCGAAGATGAAGAAGGGGA 0.557000 67 26 0 0 0.008361 0 0 MYH7B 57644 broad.mit.edu 37 20 33589805 33589805 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:33589805G>A uc002xbi.2 + 43 6174 c.5857G>A c.(5857-5859)Gat>Aat p.D1953N NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 1911 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCACGAGCTGGATGATGCGGA 0.667000 26 14 0 0 0.002450 0 0 NLRP11 204801 broad.mit.edu 37 19 56319282 56319282 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56319282C>T uc010ygf.2 - 5 2651 c.1940G>A c.(1939-1941)gGt>gAt p.G647D NLRP11_uc002qlz.3_Intron|NLRP11_uc002qmb.3_Missense_Mutation_p.G548D|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 647 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTCTGAAATACCATTAAGGTC 0.433000 48 21 0 0 0.002299 0 0 SPAG16 79582 broad.mit.edu 37 2 214727214 214727214 + Missense_Mutation SNP C G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:214727214C>G uc002veq.3 + 10 1168 c.1076C>G c.(1075-1077)tCc>tGc p.S359C SPAG16_uc010fuz.2_Missense_Mutation_p.S210C|SPAG16_uc002ver.3_Missense_Mutation_p.S305C|SPAG16_uc010zjk.2_Missense_Mutation_p.S265C NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 359 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CGCAGTGTCTCCATGCAACCC 0.448000 37 15 0 0 0.003163 0 0 PROSER1 80209 broad.mit.edu 37 13 39587627 39587627 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:39587627C>T uc001uwy.3 - 10 2635 c.1762G>A c.(1762-1764)Ggt>Agt p.G588S PROSER1_uc001uwz.3_Missense_Mutation_p.G566S NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 588 Ser-rich. TCTGAGGTACCTGGGTGGGGG 0.532000 73 30 0 0 0.002836 0 0 SPC25 57405 broad.mit.edu 37 2 169733823 169733823 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:169733823C>T uc002uel.3 - 3 402 c.271G>A c.(271-273)Ggc>Agc p.G91S NM_020675 NP_065726 Q9HBM1 SPC25_HUMAN Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA. 91 Interaction with the N-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 9 TGCTTTTTGCCTTTTACTTCA 0.338000 37 13 0 0 0.001368 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790338 133790338 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:133790338G>A uc001qgx.4 - 17 3513 c.3282C>T c.(3280-3282)atC>atT p.I1094I NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 1094 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCAGAGACAGGATGCCCGGGT 0.716000 27 17 0 0 0.006122 0 0 KCNH6 81033 broad.mit.edu 37 17 61620959 61620959 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:61620959C>T uc002jay.3 + 9 2251 c.2171C>T c.(2170-2172)tCc>tTc p.S724F KCNH6_uc010wpl.2_Missense_Mutation_p.S601F|KCNH6_uc010wpm.2_Missense_Mutation_p.S724F|KCNH6_uc002jaz.1_Missense_Mutation_p.S671F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 724 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CTCCACTCATCCCCCCGACAG 0.597000 88 18 0 0 0.007413 0 0 GRIK4 2900 broad.mit.edu 37 11 120745931 120745931 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:120745931C>T uc001pxn.2 + 10 1430 c.1143C>T c.(1141-1143)ttC>ttT p.F381F GRIK4_uc009zav.1_Silent_p.F381F|GRIK4_uc009zaw.1_Silent_p.F381F|GRIK4_uc009zax.1_Silent_p.F381F NM_014619 NP_055434 Q16099 GRIK4_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA. 381 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TCTTACAGTTCACAAGGAATG 0.493000 21 11 0 0 0.000978 0 0 PTPRD 5789 broad.mit.edu 37 9 8521541 8521541 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:8521541G>A uc003zkk.3 - 19 1440 c.697C>T c.(697-699)Cgt>Tgt p.R233C PTPRD_uc003zkp.3_Missense_Mutation_p.R233C|PTPRD_uc003zkq.3_Missense_Mutation_p.R233C|PTPRD_uc003zkr.3_Missense_Mutation_p.R227C|PTPRD_uc003zks.3_Missense_Mutation_p.R223C|PTPRD_uc022bdj.1_Missense_Mutation_p.R230C NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 233 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R232C(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTGGGACACGGCGAACTGGA 0.448000 TSP Lung(15;0.13) 13 15 0 0 0.003163 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029693 13029693 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:13029693G>A uc002wod.1 + 1 507 c.218G>A c.(217-219)gGa>gAa p.G73E SPTLC3_uc002woc.3_Missense_Mutation_p.G73E NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA. 73 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) TATGGAATTGGAACCCTGTTT 0.398000 44 28 0 0 0.006320 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21790049 21790049 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:21790049G>A uc001wag.3 + 12 1648 c.1648G>A c.(1648-1650)Gat>Aat p.D550N RPGRIP1_uc001wah.3_Missense_Mutation_p.D192N|RPGRIP1_uc001wai.3_Missense_Mutation_p.D192N|RPGRIP1_uc001waj.1_Missense_Mutation_p.D26N|RPGRIP1_uc001wak.3_Missense_Mutation_p.D25N|RPGRIP1_uc010aim.3_5'UTR|RPGRIP1_uc001wal.3_5'UTR|RPGRIP1_uc001wam.3_5'Flank NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 550 response to stimulus|visual perception cilium p.E549*(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGCTGACAATGATAATAGAGA 0.383000 15 6 0 0 0.001168 0 0 TDRD1 56165 broad.mit.edu 37 10 115985945 115985945 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:115985945C>T uc001lbg.1 + 21 3298 c.3145C>T c.(3145-3147)Cct>Tct p.P1049S TDRD1_uc001lbf.3_Missense_Mutation_p.P926S|TDRD1_uc001lbh.1_Missense_Mutation_p.P1036S|TDRD1_uc001lbi.1_Missense_Mutation_p.P1040S|TDRD1_uc010qsc.2_Missense_Mutation_p.P653S|TDRD1_uc001lbj.3_Missense_Mutation_p.P758S NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 1049 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CCTGGCGCTTCCTTTCCAAAT 0.408000 15 5 0 0 0.000602 0 0 S100A9 6280 broad.mit.edu 37 1 153330852 153330852 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153330852C>T uc001fbq.3 + 1 136 c.93C>T c.(91-93)acC>acT p.T31T NM_002965 NP_002956 P06702 S10A9_HUMAN Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA. 31 EF-hand 1. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCAGACACCCTGAACCAGG 0.522000 17 9 0 0 0.006214 0 0 DNAH2 146754 broad.mit.edu 37 17 7680855 7680855 + Missense_Mutation SNP T C C rs147602777 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:7680855T>C uc002giu.1 + 31 5164 c.5150T>C c.(5149-5151)aTt>aCt p.I1717T NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1717 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACGATAGAAATTCATGCCCGG 0.478000 228 106 0 0 0.003610 0 0 TERT 7015 broad.mit.edu 37 5 1260658 1260659 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:1260658_1260659CC>TT uc003jcb.1 - 11 2958_2959 c.2900_2901GG>AA c.(2899-2901)ggg>gAA p.G967E TERT_uc003jbz.1_Missense_Mutation_p.G163E|TERT_uc003jcc.1_Missense_Mutation_p.G904E|TERT_uc003jca.1_Missense_Mutation_p.G955E|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.G119E NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 967 CTE. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCATGTTCCTCCCAGCCTTGAA 0.574000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 32 17 0 0 0.004672 0 0 DNAH10 196385 broad.mit.edu 37 12 124341748 124341748 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:124341748T>C uc001uft.4 + 35 6255 c.6230T>C c.(6229-6231)gTa>gCa p.V2077A NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2077 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AACGATGCGGTAGAGCAGGTC 0.527000 21 16 0 0 0.008871 0 0 OR13C4 138804 broad.mit.edu 37 9 107288635 107288635 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:107288635C>T uc011lvn.2 - 0 856 c.856G>A c.(856-858)Gtt>Att p.V286I NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 GGGGTCACAACCCCATAAAAC 0.403000 34 14 0 0 0.001855 0 0 FAM83B 222584 broad.mit.edu 37 6 54806047 54806047 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54806047G>A uc003pck.3 + 4 2394 c.2278G>A c.(2278-2280)Gaa>Aaa p.E760K NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 760 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTCAAAGAAGGAAGTTAAGGG 0.368000 49 11 0 0 0.008291 0 0 NCKAP1 10787 broad.mit.edu 37 2 183859598 183859598 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:183859598G>A uc002upc.3 - 7 1161 c.759C>T c.(757-759)ctC>ctT p.L253L NCKAP1_uc002upb.3_Silent_p.L259L NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA. 253 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CATCCAAAGAGAGGTATTCAC 0.343000 69 24 0 0 0.003330 0 0 CACNA1S 779 broad.mit.edu 37 1 201019617 201019617 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:201019617T>C uc001gvv.3 - 33 4368 c.4141A>G c.(4141-4143)Atg>Gtg p.M1381V NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1381 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.M1381I(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAATTGTCCATGATGACAGCC 0.552000 33 15 0 0 0.003163 0 0 MYO1H 283446 broad.mit.edu 37 12 109826641 109826641 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:109826641C>T uc010sxn.1 + 0 118 c.118C>T c.(118-120)Ctc>Ttc p.L40F NM_001101421 NP_001094891 B4DNW6 B4DNW6_HUMAN Homo sapiens myosin IH (MYO1H), mRNA. 166 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CAGCGAGAACCTCATATACGT 0.493000 146 60 0 0 0.003610 0 0 TDRD9 122402 broad.mit.edu 37 14 104472727 104472727 + Splice_Site SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:104472727T>C uc001yom.4 + 16 1744 c.1714_splice c.e16-1 p.V572_splice TDRD9_uc001yon.4_Splice_Site_p.V310_splice NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN Homo sapiens tudor domain containing 9 (TDRD9), mRNA. 572 DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TTTATAAAGGTTGGAGCACTT 0.393000 38 15 0 0 0.003163 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835238 12835238 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12835238G>A uc001aui.3 + 0 255 c.228G>A c.(226-228)gaG>gaA p.E76E NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 76 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTAATCTAGAGATCTTTCGAG 0.577000 45 22 0 0 0.003330 0 0 ACOX3 8310 broad.mit.edu 37 4 8375329 8375329 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8375329C>T uc010idk.3 - 15 2000 c.1855G>A c.(1855-1857)Gga>Aga p.G619R ACOX3_uc003glc.4_Missense_Mutation_p.G619R|ACOX3_uc003gld.4_Intron NM_003501 NP_003492 O15254 ACOX3_HUMAN Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA. 619 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 AACACTTCTCCCGCCTGCTCA 0.597000 11 4 0 0 0.000602 0 0 ATP2B3 492 broad.mit.edu 37 X 152826321 152826321 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:152826321C>T uc004fht.1 + 16 3153 c.3027C>T c.(3025-3027)atC>atT p.I1009I ATP2B3_uc004fhs.1_Silent_p.I1009I|ATP2B3_uc010nuf.1_Silent_p.I32I|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA. 1009 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGCACCATCGTTTTGGGCA 0.567000 10 15 0 0 0.002450 0 0 METTL22 79091 broad.mit.edu 37 16 8732970 8732970 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:8732970C>T uc002cyz.3 + 5 999 c.723C>T c.(721-723)tcC>tcT p.S241S METTL22_uc021tcq.1_Non-coding_Transcript NM_024109 NP_077014 Q9BUU2 MET22_HUMAN Homo sapiens methyltransferase like 22 (METTL22), mRNA. 241 methyltransferase activity large_intestine(5)|lung(4) 9 ATCTCTTGTCCATGTGCCAGC 0.542000 32 16 0 0 0.006122 0 0 CES3 23491 broad.mit.edu 37 16 67000697 67000697 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:67000697G>A uc002eqt.3 + 7 1070 c.991G>A c.(991-993)Gag>Aag p.E331K CES3_uc010cdz.3_Missense_Mutation_p.E331K|CES3_uc010viw.2_5'Flank NM_024922 NP_079198 Q6UWW8 EST3_HUMAN Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA. 331 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) ACTCCTGAAGGAGAAGCCCTT 0.542000 209 33 0 0 0.004289 0 0 DSCR10 259234 broad.mit.edu 37 21 39580464 39580464 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:39580464G>A uc010gnt.2 + 2 c.586G>A Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA. TTTCTGTGCAGAGCCATGCTC 0.547000 159 51 0 0 0.003610 0 0 SNAP91 9892 broad.mit.edu 37 6 84303377 84303377 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:84303377G>A uc021zcf.1 - 16 1546 c.1516C>T c.(1516-1518)Cct>Tct p.P506S SNAP91_uc011dzd.2_Missense_Mutation_p.P9S|SNAP91_uc003pka.3_Missense_Mutation_p.P504S|SNAP91_uc011dze.2_Missense_Mutation_p.P504S|SNAP91_uc003pkc.3_Missense_Mutation_p.P504S|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P469S NM_014841 NP_055656 O60641 AP180_HUMAN Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA. 506 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GTAACTACAGGAACACTGGTC 0.572000 29 6 0 0 0.001168 0 0 FPR3 2359 broad.mit.edu 37 19 52327323 52327323 + Missense_Mutation SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:52327323A>G uc002pxt.1 + 1 506 c.322A>G c.(322-324)Aac>Gac p.N108D FPR3_uc021uyq.1_Missense_Mutation_p.N108D NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 108 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 GATAGACATCAACCTGTTTGT 0.478000 24 14 0 0 0.001855 0 0 CATSPERB 79820 broad.mit.edu 37 14 92189534 92189534 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:92189534C>T uc001xzs.1 - 4 309 c.169_splice c.e4-1 p.K57_splice NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 57 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) ACTGGATTTTCTTTAGGAAAG 0.353000 19 6 0 0 0.001168 0 0 SLC19A2 10560 broad.mit.edu 37 1 169446660 169446660 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:169446660G>A uc001gge.4 - 1 744 c.540C>T c.(538-540)gtC>gtT p.V180V SLC19A2_uc001ggf.4_Intron NM_006996 NP_008927 O60779 S19A2_HUMAN Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. 180 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) CTGCCACTGAGACAAGGATTT 0.512000 27 10 0 0 0.008291 0 0 FANCC 2176 broad.mit.edu 37 9 98009753 98009753 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:98009753A>G uc022bkl.1 - 2 415 c.211T>C c.(211-213)Ttg>Ctg p.L71L FANCC_uc004avh.3_Silent_p.L71L|FANCC_uc004avi.4_Silent_p.L71L|FANCC_uc010mrm.1_Non-coding_Transcript|FANCC_uc011lul.1_Non-coding_Transcript NM_001243743 NP_001230672 Q00597 FANCC_HUMAN Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA. 71 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) GCTTTTGCCAACAGTTGACCA 0.328000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 54 14 0 0 0.003163 0 0 abParts 0 broad.mit.edu 37 14 106725293 106725293 + RNA SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106725293A>G uc021ser.1 - 927 c.22219T>C Parts of antibodies, mostly variable regions. GAGATGGTGAACCGGCCCTTC 0.552000 103 37 0 0 0.004289 0 0 PLCG1 5335 broad.mit.edu 37 20 39792111 39792111 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:39792111C>T uc002xjp.1 + 8 1004 c.883C>T c.(883-885)Ctg>Ttg p.L295L PLCG1_uc002xjo.1_Silent_p.L295L|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 295 T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) ATACTTCTTCCTGGATGAGGT 0.567000 27 11 0 0 0.000978 0 0 STAC 6769 broad.mit.edu 37 3 36484998 36484998 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:36484998C>T uc003cgh.1 + 1 293 c.254C>T c.(253-255)cCa>cTa p.P85L STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.P85L NM_003149 NP_003140 Q99469 STAC_HUMAN Homo sapiens SH3 and cysteine rich domain (STAC), mRNA. 85 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 AGCTCCAGCCCACTCCCTGCT 0.562000 42 20 0 0 0.008871 0 0 COBLL1 22837 broad.mit.edu 37 2 165548907 165548907 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:165548907C>T uc002ucp.3 - 13 3460 c.3238_splice c.e13-1 p.E1080_splice COBLL1_uc002ucq.3_Splice_Site_p.E1042_splice|COBLL1_uc010zcw.2_Splice_Site_p.E1147_splice|COBLL1_uc010zcx.2_Splice_Site_p.E1088_splice|COBLL1_uc002ucn.3_Splice_Site_p.E508_splice|COBLL1_uc002uco.3_Splice_Site_p.E811_splice NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 1118 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GAGTTATTTTCCTACAAAAAT 0.318000 17 7 0 0 0.001984 0 0 ZPBP 11055 broad.mit.edu 37 7 49977183 49977183 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:49977183C>T uc003tou.3 - 7 1067 c.997G>A c.(997-999)Gga>Aga p.G333R ZPBP_uc010kyw.3_Missense_Mutation_p.G332R NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 333 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) CAATGAATTCCATCACGGGGG 0.353000 49 17 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179639101 179639101 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179639101C>T uc021vsy.1 - 29 7115 c.6890G>A c.(6889-6891)gGa>gAa p.G2297E TTN_uc021vsz.1_Missense_Mutation_p.G2251E|TTN_uc021vta.1_Missense_Mutation_p.G2251E|TTN_uc021vtb.1_Missense_Mutation_p.G2251E|TTN_uc002unb.2_Missense_Mutation_p.G2297E|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2297 Ig-like 12. 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) ATACCATTTTCCTTCTATATT 0.393000 56 19 0 0 0.010504 0 0 PLCL2 23228 broad.mit.edu 37 3 17052138 17052138 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:17052138C>T uc011awc.2 + 2 1372 c.1276C>T c.(1276-1278)Cat>Tat p.H426Y PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.H308Y NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA. 434 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.H308D(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACCTCTGTCTCATTACTTTAT 0.393000 67 16 0 0 0.004990 0 0 SEMA4F 10505 broad.mit.edu 37 2 74889939 74889939 + Silent SNP A C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:74889939A>C uc002sna.1 + 4 648 c.537A>C c.(535-537)gcA>gcC p.A179A SEMA4F_uc010ysb.1_Intron|SEMA4F_uc021vjn.1_Silent_p.A179A|SEMA4F_uc010ffq.1_Silent_p.A146A|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_Intron|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA. 179 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AGCGGTCAGCAGCTGTAATGG 0.507000 67 16 0 0 0.004007 0 0 UCHL1 7345 broad.mit.edu 37 4 41265263 41265263 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:41265263C>T uc003gvo.3 + 6 577 c.481C>T c.(481-483)Cat>Tat p.H161Y UCHL1_uc003gvp.3_Missense_Mutation_p.H80Y NM_004181 NP_004172 P09936 UCHL1_HUMAN Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA. 161 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity p.H161Y(2)|p.F160F(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 GGTGAATTTCCATTTTATTCT 0.333000 39 14 0 0 0.004007 0 0 AFF2 2334 broad.mit.edu 37 X 148062317 148062317 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:148062317G>A uc004fcp.3 + 18 4099 c.3620G>A c.(3619-3621)gGa>gAa p.G1207E AFF2_uc004fcq.3_Missense_Mutation_p.G1197E|AFF2_uc004fcr.3_Missense_Mutation_p.G1168E|AFF2_uc011mxb.2_Missense_Mutation_p.G1172E|AFF2_uc004fcs.3_Missense_Mutation_p.G1172E|AFF2_uc011mxc.2_Missense_Mutation_p.G848E NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 1207 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GTAAGCAATGGAAAGTAAGTA 0.368000 11 22 0 0 0.001882 0 0 SCN10A 6336 broad.mit.edu 37 3 38768199 38768199 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38768199G>A uc003ciq.3 - 15 2985 c.2985C>T c.(2983-2985)gtC>gtT p.V995V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 995 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) TGGGCACAGAGACCCACACAG 0.567000 22 18 0 0 0.008871 0 0 CDH12 1010 broad.mit.edu 37 5 22078763 22078763 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:22078763G>A uc010iuc.2 - 1 481 c.23C>T c.(22-24)tCc>tTc p.S8F CDH12_uc011cno.1_Missense_Mutation_p.S8F|CDH12_uc003jgk.2_Missense_Mutation_p.S8F NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 8 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GAGAAGCAGGGATAAACAGTT 0.438000 HNSCC(59;0.17) 68 30 0 0 0.006320 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617294 77617294 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:77617294G>A uc003yau.2 + 1 1358 c.971G>A c.(970-972)gGg>gAg p.G324E ZFHX4_uc003yat.1_Missense_Mutation_p.G324E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G324E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 324 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G324G(1) 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) ATAATACAGGGGATTGGCAAA 0.433000 HNSCC(33;0.089) 46 15 0 0 0.004990 0 0 TRPM6 140803 broad.mit.edu 37 9 77339653 77339653 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:77339653C>T uc004ajl.1 - 38 6183 c.5945G>A c.(5944-5946)aGa>aAa p.R1982K TRPM6_uc004ajk.1_Missense_Mutation_p.R1977K|TRPM6_uc022bib.1_Missense_Mutation_p.R1977K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R933K|TRPM6_uc010mpd.1_Missense_Mutation_p.R815K|TRPM6_uc010mpe.1_Missense_Mutation_p.R529K|TRPM6_uc004ajj.1_Missense_Mutation_p.R938K NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1982 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.R1982I(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATAGTCATTTCTTTTTAAATC 0.413000 31 13 0 0 0.002450 0 0 ANKH 56172 broad.mit.edu 37 5 14758637 14758637 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:14758637C>T uc003jfm.4 - 2 715 c.384G>A c.(382-384)acG>acA p.T128T NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA. 128 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AGGCCCTTCTCGTCTTGCTCC 0.448000 24 8 0 0 0.004482 0 0 abParts 0 broad.mit.edu 37 14 106848758 106848758 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106848758C>T uc021ser.1 - 472 c.14223G>A Parts of antibodies, mostly variable regions. GGCATCATCTCTGGAGAGGGT 0.483000 11 5 0 0 0.000602 0 0 CASZ1 54897 broad.mit.edu 37 1 10713648 10713648 + Silent SNP A C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:10713648A>C uc001aro.3 - 10 2786 c.2466T>G c.(2464-2466)ggT>ggG p.G822G CASZ1_uc001arp.1_Silent_p.G822G|CASZ1_uc009vmx.2_Silent_p.G846G NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA. 822 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ACGACACGGCACCCAGGAGGC 0.711000 21 14 0 0 0.002450 0 0 SPTA1 6708 broad.mit.edu 37 1 158624513 158624513 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:158624513C>T uc001fst.1 - 20 3123 c.2924G>A c.(2923-2925)gGa>gAa p.G975E NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 975 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCAGCAACTCCCTCCACTGG 0.512000 33 13 0 0 0.002450 0 0 ZNF609 23060 broad.mit.edu 37 15 64968228 64968228 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:64968228C>T uc002ann.3 + 3 3175 c.3175C>T c.(3175-3177)Ctg>Ttg p.L1059L NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 1059 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGACAGACCTGGTGAAATC 0.562000 39 21 0 0 0.002299 0 0 KIF24 347240 broad.mit.edu 37 9 34306349 34306349 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:34306349T>C uc003zua.4 - 2 834 c.714A>G c.(712-714)gtA>gtG p.V238V KIF24_uc010mkb.3_Silent_p.V269V NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN Homo sapiens kinesin family member 24 (KIF24), mRNA. 238 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CTCCACGACGTACCTCCCTCA 0.408000 138 50 0 0 0.003610 0 0 NNMT 4837 broad.mit.edu 37 11 114182969 114182969 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:114182969C>T uc001por.1 + 4 829 c.565C>T c.(565-567)Cca>Tca p.P189S NNMT_uc001pos.1_Missense_Mutation_p.P189S NM_006169 NP_006160 P40261 NNMT_HUMAN Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA. 189 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) CCTACTGAAGCCAGGGGGCTT 0.627000 45 13 0 0 0.002450 0 0 OR11H12 440153 broad.mit.edu 37 14 19377829 19377829 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:19377829G>A uc010tkp.2 + 0 236 c.236G>A c.(235-237)gGa>gAa p.G79E NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGTTCCTGGGAAATTTCTCC 0.413000 43 24 0 0 0.008361 0 0 C6 729 broad.mit.edu 37 5 41159289 41159289 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41159289G>A uc003jmk.2 - 11 1961 c.1751C>T c.(1750-1752)tCg>tTg p.S584L C6_uc003jml.1_Missense_Mutation_p.S584L NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 584 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.S584L(2) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCGGGTTCTCGATCTCTTATA 0.498000 38 21 0 0 0.010504 0 0 MATK 4145 broad.mit.edu 37 19 3778521 3778521 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:3778521G>A uc002lyt.3 - 12 1670 c.1270C>T c.(1270-1272)Ccg>Tcg p.P424S MATK_uc002lyv.3_Missense_Mutation_p.P425S|MATK_uc002lyu.3_Missense_Mutation_p.P383S|MATK_uc010dtq.3_Missense_Mutation_p.P423S NM_139355 NP_647611 P42679 MATK_HUMAN Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA. 424 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TTAGGGTACGGAGCCCGTCCA 0.647000 9 7 0 0 0.001984 0 0 WDR12 55759 broad.mit.edu 37 2 203762097 203762097 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:203762097G>A uc002uzl.3 - 4 1130 c.380C>T c.(379-381)tCc>tTc p.S127F NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN Homo sapiens WD repeat domain 12 (WDR12), mRNA. 127 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) PeBoW complex|nucleoplasm|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TCCTTCCAAGGACCAGATCCG 0.378000 252 108 0 0 0.003610 0 0 ENTPD8 377841 broad.mit.edu 37 9 140331429 140331429 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:140331429G>A uc004cmw.3 - 4 631 c.447C>T c.(445-447)gtC>gtT p.V149V ENTPD8_uc004cmx.3_Silent_p.V149V|ENTPD8_uc004cmy.2_3'UTR NM_001033113 NP_001028285 Q5MY95 ENTP8_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA. 149 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) ACCGGCCCAGGACCTGGGTGA 0.662000 37 18 0 0 0.006122 0 0 ZNF335 63925 broad.mit.edu 37 20 44581339 44581339 + Silent SNP G A A rs143040607 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:44581339G>A uc002xqw.3 - 18 2835 c.2712C>T c.(2710-2712)ccC>ccT p.P904P ZNF335_uc002xqv.3_Silent_p.P16P|ZNF335_uc010zxk.2_Silent_p.P749P NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN Homo sapiens zinc finger protein 335 (ZNF335), mRNA. 904 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CCTCTCCTGCGGGCTCCTCGC 0.572000 40 11 0 0 0.000978 0 0 CSMD1 64478 broad.mit.edu 37 8 3267060 3267060 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:3267060G>A uc022aqr.1 - 12 2019 c.1629C>T c.(1627-1629)ttC>ttT p.F543F CSMD1_uc011kwj.2_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 544 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCCATGGAGGAAACTGCTGC 0.507000 5 4 0 0 0.009096 0 0 SLC17A1 6568 broad.mit.edu 37 6 25811773 25811773 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:25811773C>T uc003nfh.4 - 10 1147 c.1031_splice c.e10-1 p.G344_splice SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.G344_splice|SLC17A1_uc010jqc.1_Splice_Site_p.G288_splice NM_005074 NP_005065 Q14916 NPT1_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA. 344 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAGGAGAAATCCTGGGGAGTG 0.473000 50 13 0 0 0.001368 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354227 45354227 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:45354227C>T uc002xsl.3 + 1 649 c.552C>T c.(550-552)ttC>ttT p.F184F NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 184 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GCCTCCTCTTCCTCCCTGCTG 0.627000 40 15 0 0 0.002450 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558451 140558451 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140558451C>T uc011dai.2 + 0 1081 c.836C>T c.(835-837)tCc>tTc p.S279F PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 279 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S279F(2)|p.S279S(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAGATTTCCTATTCACTT 0.413000 129 21 0 0 0.010504 0 0 LAMA5 3911 broad.mit.edu 37 20 60897381 60897381 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:60897381G>A uc002ycq.3 - 46 6357 c.6290C>T c.(6289-6291)cCc>cTc p.P2097L LAMA5_uc021wfw.1_Missense_Mutation_p.P2097L NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 2097 Laminin EGF-like 21. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGGCACTGGGGTCCCATGGT 0.721000 11 7 0 0 0.001984 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498448 123498448 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:123498448G>A uc001uej.1 - 2 419 c.220C>T c.(220-222)Cgc>Tgc p.R74C PITPNM2_uc001uek.1_Missense_Mutation_p.R74C|PITPNM2_uc009zxu.1_Missense_Mutation_p.R74C NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 74 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding p.F73L(1) NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) AGGATGGAGCGGAACCAGCTG 0.622000 39 16 0 0 0.006122 0 0 DCX 1641 broad.mit.edu 37 X 110544926 110544926 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:110544926C>T uc004epd.3 - 6 1487 c.1315G>A c.(1315-1317)Gat>Aat p.D439N DCX_uc011msv.2_Missense_Mutation_p.D444N|DCX_uc004epe.3_Missense_Mutation_p.D358N|DCX_uc004epf.3_Missense_Mutation_p.D363N|DCX_uc004epg.3_Missense_Mutation_p.D358N NM_000555 NP_835366 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 1, mRNA. 439 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TACATGGAATCACCAAGCGAG 0.448000 18 26 0 0 0.002096 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57088096 57088096 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:57088096G>A uc001njr.3 - 1 497 c.185C>T c.(184-186)cCt>cTt p.P62L TNKS1BP1_uc001njs.3_Missense_Mutation_p.P62L|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 62 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AGGCCCAACAGGCACCAGCAG 0.662000 24 13 0 0 0.003163 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361348 70361348 + Missense_Mutation SNP G A A rs41299976 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:70361348G>A uc003hek.4 - 0 279 c.232C>T c.(232-234)Cct>Tct p.P78S UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.P78S NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 78 P -> T. estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AAAGATACAGGATAAACTTCA 0.383000 30 15 0 0 0.002450 0 0 RIMS2 9699 broad.mit.edu 37 8 105260996 105260996 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:105260996C>T uc003yls.3 + 24 3839 c.3598C>T c.(3598-3600)Cct>Tct p.P1200S RIMS2_uc003ylp.3_Missense_Mutation_p.P1182S|RIMS2_uc003ylw.2_Missense_Mutation_p.P1189S|RIMS2_uc003ylq.3_Missense_Mutation_p.P996S|RIMS2_uc003ylr.3_Missense_Mutation_p.P1021S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 1244 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGCCTTGGCCCTGCTCAGCT 0.438000 HNSCC(12;0.0054) 44 15 0 0 0.004007 0 0 POTEE 445582 broad.mit.edu 37 2 131976336 131976336 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:131976336G>A uc002tsn.2 + 0 413 c.361G>A c.(361-363)Gga>Aga p.G121R PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 121 ATP binding GGGCGCTTGGGGAGACTACGA 0.602000 58 21 0 0 0.001882 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204226948 204226948 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:204226948G>A uc001hau.3 - 8 1374 c.1057C>T c.(1057-1059)Ccc>Tcc p.P353S PLEKHA6_uc009xaw.1_5'UTR|PLEKHA6_uc009xax.1_5'UTR|PLEKHA6_uc009xay.1_5'UTR|PLEKHA6_uc009xaz.1_5'UTR|PLEKHA6_uc009xba.1_5'UTR|PLEKHA6_uc009xbb.1_5'UTR|PLEKHA6_uc009xbc.1_5'UTR NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA. 353 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GAGGAGTAGGGGCCATAGTAC 0.587000 45 18 0 0 0.006122 0 0 PTPRB 5787 broad.mit.edu 37 12 71029530 71029530 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:71029530C>T uc001swc.4 - 1 417 c.372G>A c.(370-372)agG>agA p.R124R PTPRB_uc001swa.4_Silent_p.R124R|PTPRB_uc001swd.4_Silent_p.R123R|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Silent_p.R124R NM_001109754 NP_001103224 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA. 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.T123T(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGAGGTATTTCCTGGCCTTCT 0.463000 30 9 0 0 0.008291 0 0 SYNE1 23345 broad.mit.edu 37 6 152542123 152542123 + Nonsense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:152542123G>A uc021zhb.1 - 116 21938 c.21715C>T c.(21715-21717)Cag>Tag p.Q7239* SYNE1_uc003qos.4_Nonsense_Mutation_p.Q1763*|SYNE1_uc003qot.4_Nonsense_Mutation_p.Q7168*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q7239*|SYNE1_uc003qor.4_Nonsense_Mutation_p.Q139* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 7239 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) TGCCAAAGCTGAAGTAGGGCC 0.468000 HNSCC(10;0.0054) 63 16 0 0 0.004007 0 0 PBRM1 55193 broad.mit.edu 37 3 52649472 52649473 + Splice_Site DNP CC TT TT TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:52649472_52649473CC>TT uc003des.2 - 15 1831 c.1819_splice c.e15-1 p.V607_splice PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.V607_splice|PBRM1_uc003der.2_Splice_Site_p.V575_splice|PBRM1_uc003det.2_Splice_Site_p.V622_splice|PBRM1_uc003deu.2_Splice_Site_p.V622_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.V607_splice|PBRM1_uc010hmk.1_Splice_Site_p.V607_splice|PBRM1_uc003dey.2_Splice_Site_p.V607_splice|PBRM1_uc003dez.1_Splice_Site_p.V607_splice|PBRM1_uc003dfb.1_Splice_Site_p.V520_splice|PBRM1_uc003dfc.3_Splice_Site NM_181042 NP_060635 Q86U86 PB1_HUMAN Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA. 607 Bromo 4. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome DNA binding|chromatin binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCATTATAAACCTACATTCCAA 0.337000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 27 7 0 0 0.004672 0 0 CKAP4 10970 broad.mit.edu 37 12 106633345 106633346 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:106633345_106633346GG>AA uc001tlk.3 - 1 1349_1350 c.1265_1266CC>TT c.(1264-1266)tcc>tTT p.S422F NM_006825 NP_006816 Q07065 CKAP4_HUMAN Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA. 422 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CCACCTGCATGGAGAGCACCCC 0.658000 60 11 0 0 0.004672 0 0 WRNIP1 56897 broad.mit.edu 37 6 2783763 2783763 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:2783763G>A uc003mtz.3 + 4 1801 c.1610G>A c.(1609-1611)cGg>cAg p.R537Q WRNIP1_uc003mua.3_Missense_Mutation_p.R512Q NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA. 537 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding p.R537L(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TACGTGGCACGGAGGCTTGTC 0.602000 25 5 0 0 0.000602 0 0 ATR 545 broad.mit.edu 37 3 142188402 142188402 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:142188402G>A uc003eux.4 - 37 6451 c.6329C>T c.(6328-6330)tCc>tTc p.S2110F ATR_uc003euy.1_5'UTR NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 2110 FAT. DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|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 TACACGATCGGAGCGGCCAGC 0.323000 Other conserved DNA damage response genes 27 8 0 0 0.003080 0 0 ALS2 57679 broad.mit.edu 37 2 202593243 202593243 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:202593243G>A uc002uyo.3 - 14 3189 c.2833C>T c.(2833-2835)Cat>Tat p.H945Y ALS2_uc002uyp.4_Missense_Mutation_p.H945Y|ALS2_uc010ftl.3_Non-coding_Transcript NM_020919 NP_065970 Q96Q42 ALS2_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA. 945 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 ACCTGGGCATGGACCAGGGCA 0.463000 58 32 0 0 0.004289 0 0 ACAN 176 broad.mit.edu 37 15 89398533 89398533 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:89398533C>T uc010upo.1 + 11 3091 c.2717C>T c.(2716-2718)tCc>tTc p.S906F ACAN_uc010upp.1_Missense_Mutation_p.S906F|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 906 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGTCTTACTTCCACAGTGGGC 0.572000 25 5 0 0 0.000602 0 0 TMX1 81542 broad.mit.edu 37 14 51713810 51713810 + Splice_Site SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:51713810T>C uc001wza.4 + 4 440 c.315_splice c.e4-1 p.H105_splice TMX1_uc010aoa.3_Splice_Site_p.S21_splice NM_030755 NP_110382 Q9H3N1 TMX1_HUMAN Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA. 105 Thioredoxin. DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 TTCTCTTTAGTTGTAAAGATG 0.313000 20 14 0 0 0.004990 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606068 21606068 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:21606068C>T uc003cce.3 - 2 682 c.274G>A c.(274-276)Gat>Aat p.D92N ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 92 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AAACTTACATCAGAATTAAAT 0.328000 22 11 0 0 0.000978 0 0 COL18A1 80781 broad.mit.edu 37 21 46900762 46900762 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:46900762C>T uc002zhi.3 + 11 2162 c.2141C>T c.(2140-2142)cCt>cTt p.P714L COL18A1_uc002zhg.3_Missense_Mutation_p.P534L NM_030582 NP_085059 P39060 COIA1_HUMAN Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. 949 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCCGGGTTTCCTGGCCTCCCG 0.711000 9 9 0 0 0.000978 0 0 SLC26A8 116369 broad.mit.edu 37 6 35967773 35967773 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:35967773G>A uc003olm.3 - 3 552 c.441C>T c.(439-441)tcC>tcT p.S147S SLC26A8_uc003oll.3_Silent_p.S147S|SLC26A8_uc003oln.3_Silent_p.S147S NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 147 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 ACTCACCAATGGACATTTGAT 0.398000 121 37 0 0 0.005524 0 0 OR51I1 390063 broad.mit.edu 37 11 5462528 5462528 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5462528G>A uc010qze.2 - 0 256 c.217C>T c.(217-219)Ctg>Ttg p.L73L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACACTCCCAGATCATTGAGA 0.463000 27 23 0 0 0.002299 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361650 105361650 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:105361650G>A uc003ylx.1 + 1 919 c.870G>A c.(868-870)agG>agA p.R290R NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 290 osteoclast differentiation cell surface|integral to membrane|plasma membrane CTAAAGAAAGGAAAAACCTGG 0.493000 56 24 0 0 0.003954 0 0 SCN11A 11280 broad.mit.edu 37 3 38889158 38889158 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38889158G>A uc021wvy.1 - 25 4602 c.4403C>T c.(4402-4404)gCt>gTt p.A1468V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1468 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCCAATCCGAGCCAAGCGGAC 0.488000 16 5 0 0 0.001168 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117779493 117779493 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:117779493C>T uc001prs.2 - 8 1262 c.1116G>A c.(1114-1116)cgG>cgA p.R372R TMPRSS13_uc009yzr.2_Silent_p.R337R|TMPRSS13_uc021qrc.1_Silent_p.R372R|TMPRSS13_uc001prt.1_Silent_p.R51R|TMPRSS13_uc001pru.2_Silent_p.R372R NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA. 367 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GGACCTTCTCCCGGGTCCTGC 0.607000 13 7 0 0 0.003080 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18765998 18765998 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:18765998C>T uc010exr.3 - 3 623 c.511G>A c.(511-513)Gac>Aac p.D171N NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.D229N|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.D169N|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.D229N|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.D212N|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.D246N|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.D231N|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.D169N|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.D21N NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 229 Pro-rich.|Ser-rich. purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding GGCTGCGAGTCCCGGGTCTGG 0.677000 22 10 0 0 0.001368 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378226 31378226 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:31378226G>A uc003tch.3 - 1 1010 c.657C>T c.(655-657)ccC>ccT p.P219P NEUROD6_uc022abi.1_Silent_p.P219P NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 219 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CATGCCCTGGGGGAGTGGTGA 0.527000 63 13 0 0 0.002450 0 0 GNA14 9630 broad.mit.edu 37 9 80046330 80046330 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:80046330G>A uc004aku.3 - 3 1023 c.500C>T c.(499-501)tCa>tTa p.S167L NM_004297 NP_004288 O95837 GNA14_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA. 167 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 AGGCACGAATGATGGTGTGGC 0.483000 22 15 0 0 0.004990 0 0 TG 7038 broad.mit.edu 37 8 133895059 133895059 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:133895059G>A uc003ytw.3 + 8 931 c.890_splice c.e8-1 p.C297_splice NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 297 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTTCCTCTAGGCCCCACAAAA 0.498000 27 10 0 0 0.000978 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720162 160720162 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160720162C>T uc001fwq.3 + 3 733 c.718C>T c.(718-720)Ctc>Ttc p.L240F SLAMF7_uc010pjn.2_Missense_Mutation_p.L146F|SLAMF7_uc001fws.3_Missense_Mutation_p.L133F|SLAMF7_uc001fwr.3_Missense_Mutation_p.L240F|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN Homo sapiens SLAM family member 7 (SLAMF7), mRNA. 240 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCTGCTCAGTCTCTTTGTACT 0.502000 99 44 0 0 0.003610 0 0 VNN2 8875 broad.mit.edu 37 6 133070846 133070846 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:133070846A>G uc003qdt.3 - 5 1370 c.1359T>C c.(1357-1359)ccT>ccC p.P453P VNN2_uc003qds.3_Silent_p.P162P|VNN2_uc010kgb.3_Silent_p.P232P|VNN2_uc003qdv.3_Silent_p.P400P NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 453 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CAAATTTTCCAGGTGACAGAT 0.363000 13 4 0 0 0.009096 0 0 CACNA1B 774 broad.mit.edu 37 9 140938267 140938267 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:140938267G>A uc004cog.3 + 20 3473 c.3328G>A c.(3328-3330)Gag>Aag p.E1110K CACNA1B_uc022bqn.1_Missense_Mutation_p.E1110K|CACNA1B_uc011mfd.2_Missense_Mutation_p.E711K|CACNA1B_uc004coi.3_Missense_Mutation_p.E320K NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1110 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGGGAAGAAGGAGGTGGAAGC 0.587000 94 37 0 0 0.004289 0 0 KHDC1 80759 broad.mit.edu 37 6 73951815 73951815 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:73951815A>G uc003pgo.3 - 3 978 c.477T>C c.(475-477)tgT>tgC p.C159C KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Silent_p.C86C NM_001251874 NP_001238803 Q4VXA5 KHDC1_HUMAN Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA. 159 integral to membrane RNA binding large_intestine(1)|lung(4)|skin(1) 6 TCCCCACACAACAAAACATGT 0.522000 35 5 0 0 0.000602 0 0 DGKG 1608 broad.mit.edu 37 3 185983042 185983042 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:185983042G>A uc003fqa.3 - 13 1800 c.1263C>T c.(1261-1263)gtC>gtT p.V421V DGKG_uc003fqb.3_Silent_p.V382V|DGKG_uc003fqc.3_Silent_p.V421V|DGKG_uc011brx.2_Intron NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 421 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GTACCTGCATGACAAGTTCGC 0.507000 18 7 0 0 0.003080 0 0 MERTK 10461 broad.mit.edu 37 2 112761519 112761519 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:112761519G>A uc002thk.1 + 12 1947 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K MERTK_uc002thl.1_Missense_Mutation_p.E433K NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 609 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TCTTAAGCAGGAAGATGGGAC 0.463000 40 11 0 0 0.008291 0 0 NPC1L1 29881 broad.mit.edu 37 7 44560379 44560379 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:44560379C>T uc003tlb.3 - 13 3177 c.3121G>A c.(3121-3123)Gat>Aat p.D1041N NPC1L1_uc011kbw.2_Missense_Mutation_p.D995N|NPC1L1_uc003tlc.3_Missense_Mutation_p.D1041N|NPC1L1_uc003tla.3_Missense_Mutation_p.D44N NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 1041 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ACCTGGCCATCTGAAGTCAAG 0.567000 39 20 0 0 0.010504 0 0 EMB 133418 broad.mit.edu 37 5 49706754 49706754 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:49706754G>A uc003jom.3 - 3 678 c.429C>T c.(427-429)ttC>ttT p.F143F EMB_uc003jol.3_Silent_p.F74F|EMB_uc011cpy.2_Silent_p.F93F NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 143 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CCTCTCGAAAGAAACAAGAAT 0.289000 15 8 0 0 0.008291 0 0 ASB15 142685 broad.mit.edu 37 7 123269216 123269216 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:123269216G>A uc003vku.1 + 9 1460 c.1168G>A c.(1168-1170)Gcc>Acc p.A390T ASB15_uc003vkw.1_Missense_Mutation_p.A390T NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 390 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TGCAGTGAGGGCCAATAATTA 0.438000 43 9 0 0 0.006214 0 0 P4HA3 283208 broad.mit.edu 37 11 73990439 73990439 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:73990439C>T uc010rrj.2 - 7 1212 c.1169G>A c.(1168-1170)aGc>aAc p.S390N P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.S390N Q7Z4N8 P4HA3_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA. 390 endoplasmic reticulum lumen L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TTACCTTTTGCTGATGCGGTA 0.537000 79 34 0 0 0.004878 0 0 WARS 7453 broad.mit.edu 37 14 100809692 100809692 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:100809692G>A uc001yhh.1 - 7 1240 c.859C>T c.(859-861)Ccc>Tcc p.P287S WARS_uc001yhi.1_Missense_Mutation_p.P246S|WARS_uc001yhg.2_Missense_Mutation_p.P287S|WARS_uc001yhl.1_Missense_Mutation_p.P287S|WARS_uc001yhk.1_Missense_Mutation_p.P246S NM_004184 NP_998811 P23381 SYWC_HUMAN Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA. 287 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) CTGAAGGAGGGAGCAGCCTGG 0.458000 11 3 0 0 0.009096 0 0 RELN 5649 broad.mit.edu 37 7 103113260 103113260 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:103113260C>T uc022ajr.1 - 64 10542 c.10382G>A c.(10381-10383)tGa>tAa p.*3461* RELN_uc022ajq.1_3'UTR|RELN_uc010liz.3_Silent_p.*3459* NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 0 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTTGATTCTTCATGGGTATCG 0.363000 16 7 0 0 0.001984 0 0 DSC2 1824 broad.mit.edu 37 18 28659870 28659870 + Nonsense_Mutation SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:28659870C>A uc002kwl.4 - 10 2060 c.1606G>T c.(1606-1608)Gag>Tag p.E536* DSC2_uc002kwk.4_Nonsense_Mutation_p.E536* NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 536 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GTCTCTGCCTCTCTATCCAGG 0.388000 45 24 2.89027e-11 2.95268e-11 0.002299 1 0 C19orf46 163183 broad.mit.edu 37 19 36494300 36494300 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:36494300G>A uc002ocq.1 - 7 1243 c.1154C>T c.(1153-1155)gCc>gTc p.A385V C19orf46_uc021utd.1_Missense_Mutation_p.A272V|C19orf46_uc002ocr.1_Silent_p.C325C|C19orf46_uc002ocs.1_Missense_Mutation_p.A272V|C19orf46_uc010een.1_Missense_Mutation_p.A300V NM_001039876 NP_001034965 Q8N205 SYNE4_HUMAN Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA. 385 KASH. establishment of epithelial cell apical/basal polarity integral to nuclear outer membrane actin binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 8 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGGTATTCGGGCATGAGAGCA 0.552000 15 3 0 0 0.004672 0 0 RGS22 26166 broad.mit.edu 37 8 101076099 101076099 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:101076099C>T uc003yjb.1 - 7 1092 c.897G>A c.(895-897)caG>caA p.Q299Q RGS22_uc003yja.1_Silent_p.Q118Q|RGS22_uc003yjc.1_Silent_p.Q287Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Silent_p.Q203Q NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 299 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CATCAACATCCTGTTTCTTTT 0.363000 49 25 0 0 0.006320 0 0 EMB 133418 broad.mit.edu 37 5 49701641 49701641 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:49701641C>T uc003jom.3 - 4 767 c.518G>A c.(517-519)gGg>gAg p.G173E EMB_uc010ivq.3_5'Flank|EMB_uc003jol.3_Missense_Mutation_p.G104E|EMB_uc011cpy.2_Missense_Mutation_p.G123E NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 173 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AGTAGAATCCCCTACGTAAGA 0.353000 22 13 0 0 0.001855 0 0 CWH43 80157 broad.mit.edu 37 4 49005819 49005819 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:49005819C>T uc003gyv.3 + 6 1052 c.870C>T c.(868-870)ttC>ttT p.F290F CWH43_uc011bzl.2_Silent_p.F263F NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 290 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GCTGTGTCTTCGCCATCTTTA 0.488000 30 21 0 0 0.001882 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340052 29340052 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:29340052G>A uc002kxa.2 - 0 792 c.573C>T c.(571-573)ttC>ttT p.F191F NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA. 191 transport integral to membrane|mitochondrial inner membrane p.F191F(1)|p.F201F(1) CTCGAAGGCCGAAAAACAAGA 0.473000 40 15 0 0 0.008871 0 0 HFE 3077 broad.mit.edu 37 6 26091188 26091188 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:26091188C>T uc003nfx.1 + 1 356 c.196C>T c.(196-198)Cgc>Tgc p.R66C HFE_uc003nfy.1_Missense_Mutation_p.R43C|HFE_uc010jqe.1_Missense_Mutation_p.R66C|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.R66C|HFE_uc003ngb.1_Missense_Mutation_p.R66C|HFE_uc003ngc.1_Missense_Mutation_p.R66C|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank NM_000410 NP_000401 Q30201 HFE_HUMAN Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA. 66 Alpha-1. R -> C (in HFE). antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCATGAGAGTCGCCGTGTGGA 0.522000 Hemochromatosis 43 42 0 0 0.009718 0 0 TTN 7273 broad.mit.edu 37 2 179643697 179643697 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179643697C>T uc021vsy.1 - 23 4337 c.4112G>A c.(4111-4113)gGa>gAa p.G1371E TTN_uc021vsz.1_Missense_Mutation_p.G1325E|TTN_uc021vta.1_Missense_Mutation_p.G1325E|TTN_uc021vtb.1_Missense_Mutation_p.G1325E|TTN_uc002unb.2_Missense_Mutation_p.G1371E|AK123298_uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1371 Ig-like 5. 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) AATTGCATTTCCTTTAATATT 0.448000 24 9 0 0 0.004482 0 0 C1QTNF8 390664 broad.mit.edu 37 16 1144728 1144728 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:1144728G>A uc010uuw.1 - 2 469 c.195C>T c.(193-195)atC>atT p.I65I NM_207419 NP_997302 P60827 C1QT8_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA. 65 collagen lung(2)|prostate(1)|skin(1) 4 Hepatocellular(780;0.00369) TGAGGATTTCGATGTCTATAG 0.672000 32 13 0 0 0.001368 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242178 5242178 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:5242178G>A uc003jdl.3 + 16 2674 c.2536G>A c.(2536-2538)Gga>Aga p.G846R ADAMTS16_uc003jdk.1_Missense_Mutation_p.G846R NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 846 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCTGTTTCAGGGAAGGAACCC 0.488000 40 9 0 0 0.008291 0 0 DNAH8 1769 broad.mit.edu 37 6 38805726 38805726 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38805726C>T uc021yzh.1 + 32 4483 c.4374C>T c.(4372-4374)ttC>ttT p.F1458F DNAH8_uc003ooe.2_Silent_p.F1241F NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGCCAGTTTCGATGATCTGT 0.323000 20 9 0 0 0.004482 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519234 113519234 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:113519234G>A uc010ljy.1 - 3 1944 c.1913C>T c.(1912-1914)tCa>tTa p.S638L NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 638 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AATCCCACCTGATTTTTCTTC 0.378000 31 14 0 0 0.001855 0 0 NADSYN1 55191 broad.mit.edu 37 11 71185492 71185492 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71185492C>T uc001oqn.3 + 8 844 c.718C>T c.(718-720)Ctg>Ttg p.L240L NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN Homo sapiens NAD synthetase 1 (NADSYN1), mRNA. 240 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGGGGACCGCCTGTACTACGA 0.562000 52 17 0 0 0.010504 0 0 PAN2 9924 broad.mit.edu 37 12 56717878 56717878 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:56717878C>T uc001skx.3 - 12 2397 c.2020G>A c.(2020-2022)Gtg>Atg p.V674M PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.V674M|PAN2_uc001skz.3_Missense_Mutation_p.V673M NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA. 674 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGGCTCGCACGGTCTCACTG 0.537000 59 29 0 0 0.006320 0 0 ATRN 8455 broad.mit.edu 37 20 3559287 3559287 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:3559287T>C uc002wim.2 + 14 2502 c.2412T>C c.(2410-2412)acT>acC p.T804T ATRN_uc002wil.2_Silent_p.T804T|ATRN_uc021vzz.1_Silent_p.T688T NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 804 C-type lectin. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 AAATTACTACTGCCAAGGAGA 0.363000 38 17 0 0 0.010504 0 0 DDX17 10521 broad.mit.edu 37 22 38902171 38902171 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:38902171C>T uc003avy.4 - 0 175 c.72G>A c.(70-72)gtG>gtA p.V24V DDX17_uc003avx.4_Silent_p.V24V|DDX17_uc011anu.2_Intron NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 0 Poly-Gly. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) TCGCAGACGCCACCGTCGCCG 0.697000 6 4 0 0 0.009096 0 0 SREK1 140890 broad.mit.edu 37 5 65470862 65470862 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:65470862C>T uc003jun.3 + 9 1693 c.1573C>T c.(1573-1575)Ccc>Tcc p.P525S SREK1_uc010iwy.3_Missense_Mutation_p.P409S|SREK1_uc003juo.3_Missense_Mutation_p.P409S NM_001077199 NP_631907 Q8WXA9 SREK1_HUMAN Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA. 409 RNA splicing|mRNA processing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 ATCTCCGTCCCCCAGGAGGTA 0.363000 13 9 0 0 0.006214 0 0 CCDC88C 440193 broad.mit.edu 37 14 91805701 91805701 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:91805701G>A uc010aty.3 - 7 884 c.730C>T c.(730-732)Ctc>Ttc p.L244F CCDC88C_uc010twk.1_Missense_Mutation_p.L208F NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 244 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCGCTAGAGAGGCTGCTGGTG 0.662000 19 5 0 0 0.001984 0 0 DCDC2 51473 broad.mit.edu 37 6 24301956 24301956 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:24301956C>T uc003ndx.3 - 3 846 c.544G>A c.(544-546)Ggg>Agg p.G182R DCDC2_uc003ndy.3_Missense_Mutation_p.G182R NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA. 182 Doublecortin 2. cellular defense response|intracellular signal transduction|neuron migration p.G182W(2) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TGAACAGCCCCGCTCCTCAGA 0.448000 103 31 0 0 0.002836 0 0 REXO1L1 254958 broad.mit.edu 37 8 86575257 86575257 + Missense_Mutation SNP T G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:86575257T>G uc022axf.1 - 0 470 c.470A>C c.(469-471)aAc>aCc p.N157T NM_172239 NP_758439 Q8IX06 GOR_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA. 157 cytoplasm|nucleus exonuclease activity|nucleic acid binding endometrium(1)|lung(4) 5 CGGACCCCTGTTTTGGGGCTC 0.672000 8 3 0 0 0.004672 0 0 IL13RA1 3597 broad.mit.edu 37 X 117895132 117895132 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:117895132C>T uc004eqs.3 + 5 751 c.708C>T c.(706-708)ctC>ctT p.L236L IL13RA1_uc004eqr.1_Silent_p.L236L NM_001560 NP_001551 P78552 I13R1_HUMAN Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA. 236 interleukin-13 receptor complex cytokine receptor activity p.L236P(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 TTAAAAACCTCTCCTTCCACA 0.373000 17 34 0 0 0.003755 0 0 UBR4 23352 broad.mit.edu 37 1 19431085 19431085 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:19431085G>A uc001bbi.3 - 85 12725 c.12721C>T c.(12721-12723)Ctc>Ttc p.L4241F UBR4_uc010ocw.2_5'Flank|UBR4_uc001bbg.3_5'UTR|UBR4_uc001bbh.3_5'UTR NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 4241 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTACCTGTGAGACTTTTAAGG 0.517000 19 3 0 0 0.004672 0 0 LEPR 3953 broad.mit.edu 37 1 66102401 66102401 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:66102401C>T uc001dci.3 + 19 3590 c.3201C>T c.(3199-3201)ttC>ttT p.F1067F LEPR_uc009waq.3_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 1067 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGGGAAATTTCCCTGAAGAAA 0.358000 63 24 0 0 0.002780 0 0 OR6C75 390323 broad.mit.edu 37 12 55759618 55759618 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55759618C>T uc010spk.2 + 0 724 c.724C>T c.(724-726)Cat>Tat p.H242Y NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TTGCTCCTCCCATATGATAGT 0.398000 29 16 0 0 0.003163 0 0 CABS1 85438 broad.mit.edu 37 4 71201035 71201035 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:71201035G>A uc003hff.3 + 0 365 c.279G>A c.(277-279)caG>caA p.Q93Q CABS1_uc021xoz.1_Silent_p.Q93Q NM_033122 NP_149113 Q96KC9 CABS1_HUMAN Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA. 93 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CTCACCTACAGAAAGAAATTA 0.373000 24 18 0 0 0.008871 0 0 COL4A5 1287 broad.mit.edu 37 X 107814658 107814658 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:107814658C>T uc022ccg.1 + 6 602 c.400C>T c.(400-402)Cca>Tca p.P134S COL4A5_uc004enz.1_Missense_Mutation_p.P134S NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 134 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACGTGGATTTCCAGGCAGTCC 0.368000 Alport syndrome with Diffuse Leiomyomatosis 45 44 0 0 0.003610 0 0 GPR98 84059 broad.mit.edu 37 5 89992916 89992916 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:89992916G>A uc003kju.3 + 33 8204 c.8108G>A c.(8107-8109)gGa>gAa p.G2703E GPR98_uc003kjt.3_Missense_Mutation_p.G409E|GPR98_uc003kjv.3_Missense_Mutation_p.G303E NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2703 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AATGTGGCAGGAATTGTTAGC 0.393000 66 33 0 0 0.007835 0 0 MMRN1 22915 broad.mit.edu 37 4 90856447 90856447 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:90856447G>A uc003hst.3 + 5 1687 c.1616G>A c.(1615-1617)aGc>aAc p.S539N MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.S281N NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 539 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.S539T(2) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GAGTCAGTTAGCAATAATGTC 0.363000 26 9 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179640203 179640203 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179640203C>T uc021vsy.1 - 27 6613 c.6388G>A c.(6388-6390)Gaa>Aaa p.E2130K TTN_uc021vsz.1_Missense_Mutation_p.E2084K|TTN_uc021vta.1_Missense_Mutation_p.E2084K|TTN_uc021vtb.1_Missense_Mutation_p.E2084K|TTN_uc002unb.2_Missense_Mutation_p.E2130K|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2130 Ig-like 10. 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) ACATTGTCTTCGGGCCAGTAC 0.483000 26 10 0 0 0.000978 0 0 USP28 57646 broad.mit.edu 37 11 113700029 113700029 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:113700029G>A uc001poh.3 - 9 982 c.949C>T c.(949-951)Cct>Tct p.P317S USP28_uc001pog.3_Missense_Mutation_p.P25S|USP28_uc010rwy.2_Missense_Mutation_p.P192S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P317S NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 317 DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACCTGAAGAGGATACTGGCCG 0.443000 25 19 0 0 0.008871 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762670 24762670 + Missense_Mutation SNP A C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:24762670A>C uc001iru.4 + 5 1763 c.1360A>C c.(1360-1362)Aaa>Caa p.K454Q KIAA1217_uc001irs.3_Missense_Mutation_p.K374Q|KIAA1217_uc001irt.4_Missense_Mutation_p.K454Q|KIAA1217_uc010qcy.2_Missense_Mutation_p.K454Q|KIAA1217_uc010qcz.2_Missense_Mutation_p.K454Q|KIAA1217_uc001irv.1_Missense_Mutation_p.K304Q|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.K172Q|KIAA1217_uc001irz.3_Missense_Mutation_p.K172Q|KIAA1217_uc001irx.3_Missense_Mutation_p.K172Q|KIAA1217_uc001iry.3_Missense_Mutation_p.K172Q NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 454 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTACAGACAGAAATCAAGGAA 0.493000 31 10 0 0 0.008291 0 0 ACOX2 8309 broad.mit.edu 37 3 58519835 58519835 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:58519835C>T uc003dkl.3 - 3 536 c.361G>A c.(361-363)Gtc>Atc p.V121I NM_003500 NP_003491 Q99424 ACOX2_HUMAN Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA. 121 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CTCACGAAGACTCTGTGTATA 0.537000 50 19 0 0 0.001882 0 0 C6 729 broad.mit.edu 37 5 41159280 41159280 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41159280C>T uc003jmk.2 - 11 1970 c.1760G>A c.(1759-1761)cGa>cAa p.R587Q C6_uc003jml.1_Missense_Mutation_p.R587Q NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 587 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTGCATTCTCGGGTTCTCGA 0.493000 44 23 0 0 0.002299 0 0 FAT4 79633 broad.mit.edu 37 4 126411760 126411760 + Missense_Mutation SNP G A A rs148534921 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:126411760G>A uc003ifj.4 + 16 13783 c.13783G>A c.(13783-13785)Gaa>Aaa p.E4595K FAT4_uc011cgp.2_Missense_Mutation_p.E2836K|FAT4_uc003ifi.1_Missense_Mutation_p.E2072K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4595 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I4594V(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATCTATGATGAAACTGATAT 0.483000 42 20 0 0 0.010504 0 0 MICAL1 64780 broad.mit.edu 37 6 109773720 109773720 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:109773720G>A uc011eaq.2 - 4 1018 c.727C>T c.(727-729)Cct>Tct p.P243S MICAL1_uc003ptj.3_Missense_Mutation_p.P224S|MICAL1_uc003ptk.3_Missense_Mutation_p.P224S|MICAL1_uc010kdr.3_Missense_Mutation_p.P224S NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA. 224 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding p.P224S(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TCACCTTCAGGGACGAATTTA 0.552000 31 8 0 0 0.004482 0 0 PRB1 5542 broad.mit.edu 37 12 11506747 11506747 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:11506747G>A uc001qzw.1 - 2 327 c.290C>T c.(289-291)cCa>cTa p.P97L PRB1_uc001qzu.1_Missense_Mutation_p.P97L|PRB1_uc001qzv.1_Missense_Mutation_p.P97L NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 97 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M). extracellular region p.K96K(1) NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGTCCTTGTGGTTTTCCTGG 0.607000 359 83 0 0 0.003610 0 0 SOGA3 387104 broad.mit.edu 37 6 127796711 127796711 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127796711C>T uc003qbd.3 - 5 3325 c.2460G>A c.(2458-2460)tcG>tcA p.S820S KIAA0408_uc003qbc.3_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 820 integral to membrane GCTCGGCCTCCGAGCGGATGT 0.672000 107 33 0 0 0.003755 0 0 OTX2 5015 broad.mit.edu 37 14 57268930 57268930 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:57268930G>A uc001xcq.3 - 4 691 c.417C>T c.(415-417)ttC>ttT p.F139F OTX2_uc001xcp.3_Silent_p.F131F|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Silent_p.F131F NM_021728 NP_068374 P32243 OTX2_HUMAN Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA. 131 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) AGGGGGGAGTGAATTGGCCAC 0.527000 23 19 0 0 0.006122 0 0 MECR 51102 broad.mit.edu 37 1 29542634 29542634 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:29542634G>A uc001brq.1 - 2 325 c.289C>T c.(289-291)Ctt>Ttt p.L97F MECR_uc001brp.1_Missense_Mutation_p.L21F|MECR_uc001brt.1_Missense_Mutation_p.L21F|MECR_uc010ofz.1_Missense_Mutation_p.L97F NM_016011 NP_001019903 Q9BV79 MECR_HUMAN Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 97 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) AGTTCAGGAAGGAATCCGTAG 0.552000 47 11 0 0 0.000978 0 0 ACOXL 55289 broad.mit.edu 37 2 111789215 111789215 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:111789215G>A uc010yxk.1 + 14 1517 c.1293G>A c.(1291-1293)aaG>aaA p.K431K ACOXL_uc021vmm.1_Silent_p.K284K|ACOXL_uc021vmn.1_Silent_p.K254K NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 461 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TAAAGACCAAGAAGGAGGATT 0.453000 28 16 0 0 0.006122 0 0 TMEM40 55287 broad.mit.edu 37 3 12790243 12790243 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:12790243G>A uc011auv.1 - 2 337 c.170C>T c.(169-171)tCc>tTc p.S57F TMEM40_uc003bxg.1_Missense_Mutation_p.S41F|TMEM40_uc003bxh.1_Missense_Mutation_p.S41F NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN Homo sapiens transmembrane protein 40 (TMEM40), mRNA. 41 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 TTGTTCTTGGGAAAAGAGTCC 0.517000 102 46 0 0 0.003610 0 0 VPS53 55275 broad.mit.edu 37 17 613784 613784 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:613784G>A uc010cjo.2 - 1 304 c.157C>T c.(157-159)Cca>Tca p.P53S VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.P53S|VPS53_uc002frn.2_Missense_Mutation_p.P53S|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.P53S NM_001128159 NP_001121631 Q5VIR6 VPS53_HUMAN Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA. 53 protein transport Golgi apparatus|endosome membrane breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TGCTCGGTTGGGAACAGGGTA 0.418000 34 16 0 0 0.008871 0 0 SCN1A 6323 broad.mit.edu 37 2 166929996 166929996 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166929996C>T uc002udo.4 - 2 363 c.136G>A c.(136-138)Gaa>Aaa p.E46K SCN1A_uc010fpk.3_Missense_Mutation_p.E46K|SCN1A_uc021vsb.1_Missense_Mutation_p.E46K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 46 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D45D(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGGCCATTTTCGTCGTCATCT 0.448000 93 37 0 0 0.006999 0 0 C6orf58 352999 broad.mit.edu 37 6 127912742 127912742 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127912742C>T uc003qbh.3 + 5 980 c.968C>T c.(967-969)tCt>tTt p.S323F NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA. 323 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GAATCTAGCTCTAGAAGTTAT 0.269000 21 12 0 0 0.001368 0 0 FAM171A1 221061 broad.mit.edu 37 10 15290723 15290723 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:15290723G>A uc001iob.3 - 4 676 c.669C>T c.(667-669)ccC>ccT p.P223P NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 223 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TGACATAGATGGGACCATCCA 0.587000 49 21 0 0 0.010504 0 0 PPP4R4 57718 broad.mit.edu 37 14 94725701 94725701 + Missense_Mutation SNP G A A rs2180398 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94725701G>A uc001ycs.1 + 18 2276 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 708 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 ACTTCTTTTGGAAATGGTATG 0.269000 8 6 0 0 0.001984 0 0 CCDC81 60494 broad.mit.edu 37 11 86126160 86126160 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:86126160C>T uc001pbx.2 + 12 1924 c.1496C>T c.(1495-1497)cCc>cTc p.P499L CCDC81_uc001pbw.2_Missense_Mutation_p.P409L|CCDC81_uc010rtq.2_Missense_Mutation_p.P282L|CCDC81_uc001pby.2_Missense_Mutation_p.P234L NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA. 499 p.R499K(1) kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) TCTCGGCTGCCCCCCTTTGAG 0.438000 41 19 0 0 0.002780 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022436 51022436 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51022436G>A uc002pss.3 - 2 671 c.534C>T c.(532-534)ttC>ttT p.F178F NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 178 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GCACGCGGTTGAAGGCGTAGG 0.672000 43 20 0 0 0.010504 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183090 102183090 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:102183090C>T uc003dvt.1 + 6 904 c.804C>T c.(802-804)ttC>ttT p.F268F ZPLD1_uc003dvs.1_Silent_p.F252F|ZPLD1_uc011bhg.1_Silent_p.F252F NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 252 ZP. integral to membrane p.F268Y(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGATCTTTTCCTTAGGTAAG 0.313000 36 14 0 0 0.001855 0 0 FILIP1 27145 broad.mit.edu 37 6 76024867 76024867 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:76024867C>T uc010kbe.3 - 5 1220 c.690G>A c.(688-690)aaG>aaA p.K230K FILIP1_uc003phy.1_Silent_p.K227K|FILIP1_uc003phz.3_Silent_p.K128K|FILIP1_uc003pia.3_Silent_p.K227K|FILIP1_uc003pib.1_5'UTR NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 227 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TAGCATTTTCCTTTTCTTTGC 0.343000 52 12 0 0 0.000978 0 0 SLC9A3 6550 broad.mit.edu 37 5 488572 488572 + Silent SNP C A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:488572C>A uc003jbe.2 - 2 646 c.534G>T c.(532-534)ctG>ctT p.L178L SLC9A3_uc011clx.1_Silent_p.L178L NM_004174 NP_004165 P48764 SL9A3_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA. 178 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGAAGTCCAGCAGCCCAATCT 0.677000 5 3 0.00909568 0.00921744 0.009096 1 0 PCDH15 65217 broad.mit.edu 37 10 55582031 55582031 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:55582031G>A uc010qhy.1 - 34 5871 c.5476C>T c.(5476-5478)Cct>Tct p.P1826S PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1821S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1796S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1816S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1779S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1750S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1821S|PCDH15_uc010qia.1_Missense_Mutation_p.P1799S|PCDH15_uc001jju.1_Missense_Mutation_p.P1819S|PCDH15_uc010qib.1_Missense_Mutation_p.P1796S NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1819 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.P1826L(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggtggtggaggaagaggagtt 0.483000 HNSCC(58;0.16) 19 6 0 0 0.001168 0 0 EGFR 1956 broad.mit.edu 37 7 55233114 55233114 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:55233114C>T uc003tqk.3 + 14 2110 c.1864C>T c.(1864-1866)Cca>Tca p.P622S EGFR_uc003tqi.3_Missense_Mutation_p.P622S|EGFR_uc003tqj.3_Missense_Mutation_p.P622S|EGFR_uc022adm.1_Missense_Mutation_p.P622S|EGFR_uc010kzg.2_Missense_Mutation_p.P577S|EGFR_uc022adn.1_Missense_Mutation_p.P577S|EGFR_uc011kco.2_Missense_Mutation_p.P569S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 622 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCTGTGCCATCCAAACTGCAC 0.532000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 37 12 0 0 0.001855 0 0 YARS2 51067 broad.mit.edu 37 12 32908665 32908665 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:32908665G>A uc001rli.3 - 0 223 c.144C>T c.(142-144)ttC>ttT p.F48F NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA. 48 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) AGAAGTCCTTGAACAGACCTC 0.577000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 38 0 0 0.006230 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981769 92981769 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:92981769C>T uc002bra.3 + 3 632 c.477C>T c.(475-477)atC>atT p.I159I ST8SIA2_uc002brb.3_Silent_p.I138I NM_006011 NP_006002 Q92186 SIA8B_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA. 159 N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CTTGTGCCATCGTGGGCAACT 0.577000 23 19 0 0 0.006122 0 0 KRT76 51350 broad.mit.edu 37 12 53169379 53169379 + Missense_Mutation SNP A T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53169379A>T uc001sax.3 - 1 662 c.608T>A c.(607-609)tTc>tAc p.F203Y NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 203 Coil 1A.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGTTCCAGGAACCGCACCTG 0.572000 51 26 0 0 0.003954 0 0 KLHL12 59349 broad.mit.edu 37 1 202862461 202862461 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:202862461G>A uc001gyo.1 - 10 1686 c.1486C>T c.(1486-1488)Cgc>Tgc p.R496C KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Missense_Mutation_p.R534C|KLHL12_uc009xah.1_Missense_Mutation_p.R395C NM_021633 NP_067646 Q53G59 KLH12_HUMAN Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA. 496 Interaction with DVL3. Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) GAATCAGTGCGAATGTTGTAT 0.522000 85 37 0 0 0.004289 0 0 RPH3A 22895 broad.mit.edu 37 12 113327831 113327831 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:113327831G>A uc010syl.2 + 17 1928 c.1566G>A c.(1564-1566)atG>atA p.M522I RPH3A_uc001ttz.3_Missense_Mutation_p.M522I|RPH3A_uc001tty.3_Missense_Mutation_p.M518I|RPH3A_uc009zwe.1_Missense_Mutation_p.M518I|RPH3A_uc010sym.2_Missense_Mutation_p.M473I|RPH3A_uc001tua.3_Missense_Mutation_p.M282I NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 522 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CTTTTAAGATGAAACGTGCTG 0.483000 123 49 0 0 0.003610 0 0 CANT1 124583 broad.mit.edu 37 17 76993521 76993521 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:76993521G>A uc002jwj.3 - 1 679 c.184C>T c.(184-186)Cac>Tac p.H62Y CANT1_uc002jwn.3_Missense_Mutation_p.H62Y|CANT1_uc002jwk.3_Missense_Mutation_p.H62Y|CANT1_uc002jwl.2_Non-coding_Transcript NM_138793 NP_620148 Q8WVQ1 CANT1_HUMAN Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. 62 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GCCGGGCGGTGGGAGCAGAGC 0.687000 T ETV4 prostate 21 30 0 0 0.007291 0 0 COL11A2 1302 broad.mit.edu 37 6 33134889 33134889 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:33134889C>T uc003ocx.1 - 57 4416 c.4188G>A c.(4186-4188)ggG>ggA p.G1396G COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G1310G|COL11A2_uc003ocz.1_Silent_p.G1289G NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1396 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GACCAGGCAGCCCTGGGGGTC 0.607000 39 13 0 0 0.004990 0 0 ZNF451 26036 broad.mit.edu 37 6 57017092 57017092 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:57017092C>T uc003pdm.1 + 11 3050 c.2826C>T c.(2824-2826)ttC>ttT p.F942F ZNF451_uc003pdl.3_Silent_p.F942F|ZNF451_uc003pdn.1_Silent_p.F894F|BC032020_uc003pdq.1_Intron NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA. 942 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GATGCTTCTTCCTTCATCCTC 0.368000 51 7 0 0 0.003080 0 0 DNMT3B 1789 broad.mit.edu 37 20 31374317 31374317 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:31374317C>T uc002wyc.3 + 4 637 c.316C>T c.(316-318)Cga>Tga p.R106* DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Nonsense_Mutation_p.R106*|DNMT3B_uc002wye.3_Nonsense_Mutation_p.R106*|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Nonsense_Mutation_p.R118* NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA. 106 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTCCGAACTCGAAATAACAA 0.627000 46 11 0 0 0.000978 0 0 RFPL3 10738 broad.mit.edu 37 22 32756464 32756464 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:32756464C>T uc003amj.3 + 1 804 c.599C>T c.(598-600)tCt>tTt p.S200F RFPL3_uc010gwn.3_Missense_Mutation_p.S171F|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript NM_001098535 NP_006595 O75679 RFPL3_HUMAN Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA. 200 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 TGCAGAGAATCTGTTCACTGC 0.582000 52 21 0 0 0.008871 0 0 C1orf173 127254 broad.mit.edu 37 1 75065500 75065500 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:75065500T>A uc001dgg.3 - 10 1824 c.1605A>T c.(1603-1605)aaA>aaT p.K535N CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.K329N NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 535 Glu-rich. p.K534T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTAAATTATCTTTTTTATCAT 0.403000 69 23 0 0 0.003330 0 0 GLI2 2736 broad.mit.edu 37 2 121746665 121746665 + Missense_Mutation SNP G A A rs150597008 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:121746665G>A uc010flp.3 + 12 3205 c.3175G>A c.(3175-3177)Gac>Aac p.D1059N GLI2_uc002tmq.1_Missense_Mutation_p.D731N|GLI2_uc002tmr.1_Missense_Mutation_p.D714N|GLI2_uc002tmt.4_Missense_Mutation_p.D731N|GLI2_uc002tmu.4_Missense_Mutation_p.D714N NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 1059 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCCGGAGGACGACCTGGTGCT 0.706000 48 17 0 0 0.007413 0 0 OR6C75 390323 broad.mit.edu 37 12 55759740 55759740 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55759740C>T uc010spk.2 + 0 846 c.846C>T c.(844-846)ctC>ctT p.L282L NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TGGCTCCTCTCTTGAATCCCT 0.393000 34 10 0 0 0.008291 0 0 OR6C3 254786 broad.mit.edu 37 12 55725784 55725784 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55725784C>T uc010spj.2 + 0 300 c.300C>T c.(298-300)ttC>ttT p.F100F NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 AACTCTTTTTCTTTATCTTCA 0.413000 43 21 0 0 0.008871 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082095 140082095 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:140082095C>T uc004clr.1 - 1 651 c.578G>A c.(577-579)gGg>gAg p.G193E ANAPC2_uc004clq.1_Missense_Mutation_p.G52E|ANAPC2_uc011mer.1_Missense_Mutation_p.G193E|SSNA1_uc004cls.2_5'Flank NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA. 193 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GTCTGTGCCCCCTTCCCCCTT 0.587000 53 18 0 0 0.006122 0 0 MAP3K11 4296 broad.mit.edu 37 11 65367008 65367008 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:65367008G>A uc001oew.3 - 8 2556 c.2063C>T c.(2062-2064)aCc>aTc p.T688I MAP3K11_uc001oev.3_Missense_Mutation_p.T104I|MAP3K11_uc010rol.2_Missense_Mutation_p.T431I|MAP3K11_uc001oex.1_Missense_Mutation_p.T195I NM_002419 NP_002410 Q16584 M3K11_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA. 688 Pro-rich. G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GGGCGGCTCGGTCGGGCAGGG 0.741000 40 23 0 0 0.004656 0 0 CCBP2 1238 broad.mit.edu 37 3 42906687 42906687 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:42906687C>T uc003cme.3 + 2 871 c.693C>T c.(691-693)tcC>tcT p.S231S CCBP2_uc003cmf.3_Silent_p.S231S|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.S231S NM_001296 NP_001287 O00590 CCBP2_HUMAN Homo sapiens chemokine binding protein 2 (CCBP2), mRNA. 231 chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.241) TCTTCTACTCCCGTATTGGTT 0.557000 95 34 0 0 0.003755 0 0 VHDJH 0 broad.mit.edu 37 16 32077634 32077634 + RNA SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:32077634G>A uc010vfu.2 + 0 c.65G>A Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26. ATCTGCAAATGAACAGCCTGA 0.512000 314 55 0 0 0.003610 0 0 SLC4A1 6521 broad.mit.edu 37 17 42327849 42327849 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:42327849C>T uc002igf.4 - 19 2862 c.2713G>A c.(2713-2715)Gac>Aac p.D905N SLC4A1_uc021tyc.1_Missense_Mutation_p.D539N NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 905 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCCACTTCGTCGTATTCATCC 0.597000 35 10 0 0 0.001368 0 0 SCAF8 22828 broad.mit.edu 37 6 155141449 155141449 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:155141449C>T uc003qqa.3 + 15 2006 c.1774C>T c.(1774-1776)Cag>Tag p.Q592* SCAF8_uc011efj.2_Nonsense_Mutation_p.Q658*|SCAF8_uc011efk.2_Nonsense_Mutation_p.Q637*|SCAF8_uc003qpz.3_Nonsense_Mutation_p.Q592*|SCAF8_uc010kji.3_Nonsense_Mutation_p.Q613* NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA. 592 RNA splicing|mRNA processing nuclear matrix|spliceosomal complex RNA binding|RNA polymerase core enzyme binding|nucleotide binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CATGATTGATCAGGAGACTGT 0.368000 31 12 0 0 0.001368 0 0 EVPL 2125 broad.mit.edu 37 17 74005349 74005349 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:74005349C>T uc010wss.1 - 21 4231 c.4003G>A c.(4003-4005)Gtg>Atg p.V1335M EVPL_uc002jqi.2_Missense_Mutation_p.V1313M|EVPL_uc010wst.1_Missense_Mutation_p.V783M NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 1313 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCCTTGCTCACCGTCTTGGTC 0.697000 117 72 0 0 0.003610 0 0 ADAM11 4185 broad.mit.edu 37 17 42848992 42848992 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:42848992G>A uc002ihh.3 + 4 422 c.422G>A c.(421-423)gGg>gAg p.G141E ADAM11_uc010wjd.2_5'UTR NM_002390 NP_002381 O75078 ADA11_HUMAN Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA. 141 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.R140Q(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) AAGCTCCGGGGGAACCCGCAC 0.687000 84 27 0 0 0.002096 0 0 TUSC3 7991 broad.mit.edu 37 8 15480671 15480671 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:15480671G>A uc003wwt.3 + 1 565 c.221G>A c.(220-222)cGa>cAa p.R74Q TUSC3_uc003wwu.3_Missense_Mutation_p.R74Q NM_006765 NP_006756 Q13454 TUSC3_HUMAN Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA. 74 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.R74L(3) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GATAAATTCCGAAAATTTATA 0.398000 22 6 0 0 0.001168 0 0 ERAP2 64167 broad.mit.edu 37 5 96224936 96224936 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:96224936T>C uc003kmq.3 + 4 1607 c.897T>C c.(895-897)gcT>gcC p.A299A ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.A299A|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.A248A|ERAP2_uc003kmu.3_Non-coding_Transcript NM_022350 NP_071745 Q6P179 ERAP2_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA. 299 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) CACATTATGCTTTGCAGGCAT 0.393000 37 13 0 0 0.002450 0 0 SYT16 83851 broad.mit.edu 37 14 62551075 62551075 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:62551075C>T uc001xfu.1 + 4 1793 c.1596C>T c.(1594-1596)ttC>ttT p.F532F SYT16_uc010tse.1_Silent_p.F90F NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 532 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GCAGCCATTTCCGAAACCTCG 0.537000 22 16 0 0 0.006122 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527628 65527628 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:65527628G>A uc003xvj.2 - 3 1216 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 338 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGGTGGATGGGAAATCCAGAC 0.443000 21 6 0 0 0.003080 0 0 CDC45 8318 broad.mit.edu 37 22 19495387 19495387 + Splice_Site SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:19495387G>A uc011aha.2 + 13 1229 c.1151_splice c.e13+1 p.G384_splice CDC45_uc011agz.1_Splice_Site_p.G347_splice|CDC45_uc002zpr.3_Splice_Site_p.G352_splice|CDC45_uc002zpt.3_Splice_Site_p.G306_splice NM_001178010 NP_001171481 O75419 CDC45_HUMAN Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA. 352 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 AATAAATTTGGGTAAACACAC 0.388000 39 14 0 0 0.001855 0 0 ASXL2 55252 broad.mit.edu 37 2 25972779 25972779 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:25972779G>A uc002rgs.2 - 10 1867 c.1646C>T c.(1645-1647)aCt>aTt p.T549I ASXL2_uc002rgt.1_Missense_Mutation_p.T289I NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCATATTAGTCTCCTGTGG 0.502000 55 21 0 0 0.010504 0 0 MRPS23 51649 broad.mit.edu 37 17 55917233 55917233 + Silent SNP A G G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:55917233A>G uc002ivc.3 - 4 546 c.484T>C c.(484-486)Ttg>Ctg p.L162L NM_016070 NP_057154 Q9Y3D9 RT23_HUMAN Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA. 162 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) TTTTCTTCCAACGCAGTCTGT 0.478000 41 29 0 0 0.009535 0 0 SHANK3 85358 broad.mit.edu 37 22 51123077 51123077 + Missense_Mutation SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:51123077T>C uc003bne.1 + 8 1028 c.1028T>C c.(1027-1029)gTt>gCt p.V343A NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA. 343 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GACTCGGATGTTGGTGAGTTC 0.567000 41 10 0 0 0.006214 0 0 ZNF319 57567 broad.mit.edu 37 16 58031661 58031661 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:58031661G>A uc002emx.1 - 1 1132 c.509C>T c.(508-510)gCt>gTt p.A170V ZNF319_uc021tjd.1_Missense_Mutation_p.A170V NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN Homo sapiens zinc finger protein 319 (ZNF319), mRNA. 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CGCTGCCTCAGCTGGCTTGTA 0.622000 123 208 0 0 0.003610 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251642 24251642 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:24251642C>T uc003xdz.2 + 3 565 c.345C>T c.(343-345)acC>acT p.T115T ADAMDEC1_uc010lub.2_Silent_p.T36T|ADAMDEC1_uc011lab.1_Silent_p.T36T NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 115 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AGGAAATTACCACGAAACCTG 0.458000 14 5 0 0 0.000602 0 0 POLL 27343 broad.mit.edu 37 10 103345144 103345144 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:103345144G>A uc001ktg.1 - 2 1268 c.502C>T c.(502-504)Cct>Tct p.P168S DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001ktj.2_Missense_Mutation_p.P168S|POLL_uc010qqb.2_Intron|POLL_uc001ktf.3_Missense_Mutation_p.P168S|POLL_uc001kti.2_Missense_Mutation_p.P168S|POLL_uc001ktl.3_Missense_Mutation_p.P80S|POLL_uc001ktm.3_Missense_Mutation_p.P168S|POLL_uc010qqc.2_Intron|POLL_uc010qqa.2_Intron|POLL_uc010qqd.2_Intron|DPCD_uc001ktn.3_5'Flank NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA. 168 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGAGGAGGAGGAGAAAGGGCT 0.597000 DNA polymerases (catalytic subunits) 17 15 0 0 0.004007 0 0 XKR4 114786 broad.mit.edu 37 8 56435931 56435931 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:56435931C>T uc003xsf.3 + 2 1130 c.1098C>T c.(1096-1098)ccC>ccT p.P366P NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 366 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) ACAAGAAGCCCATCAGCTACA 0.587000 34 12 0 0 0.002450 0 0 PLXDC1 57125 broad.mit.edu 37 17 37243946 37243946 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:37243946C>T uc002hrg.2 - 7 1033 c.821G>A c.(820-822)cGa>cAa p.R274Q LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_5'UTR|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN Homo sapiens plexin domain containing 1 (PLXDC1), mRNA. 274 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GATGCTCCTTCGCCGAGATTC 0.572000 22 11 0 0 0.000978 0 0 TRERF1 55809 broad.mit.edu 37 6 42196395 42196395 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:42196395C>T uc003ose.2 - 17 3914 c.3351G>A c.(3349-3351)aaG>aaA p.K1117K TRERF1_uc011duq.1_Silent_p.K1014K|TRERF1_uc003osb.2_Silent_p.K865K|TRERF1_uc003osc.2_Silent_p.K853K|TRERF1_uc003osd.2_Silent_p.K1097K NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 1097 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGCTTTTGATCTTGAAGAAGA 0.468000 288 80 0 0 0.003610 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51252788 51252788 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:51252788G>A uc001rwx.4 + 2 651 c.604G>A c.(604-606)Gga>Aga p.G202R TMPRSS12_uc001rwy.3_Missense_Mutation_p.G202R NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA. 202 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 AATCCTGGACGGAAACACAAA 0.348000 14 4 0 0 0.000602 0 0 COL5A1 1289 broad.mit.edu 37 9 137687133 137687133 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:137687133G>A uc004cfe.3 + 33 3153 c.2771G>A c.(2770-2772)cGg>cAg p.R924Q NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 924 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P923S(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGAGGCCCCCGGGGCATCACT 0.632000 54 26 0 0 0.006320 0 0 DSG3 1830 broad.mit.edu 37 18 29036436 29036436 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:29036436G>A uc002kws.3 + 1 191 c.82G>A c.(82-84)Gag>Aag p.E28K NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 28 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATTGCGAATAGAGGTAAAGTA 0.229000 24 6 0 0 0.001168 0 0 SCN8A 6334 broad.mit.edu 37 12 52056748 52056748 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52056748G>A uc001ryw.3 + 1 325 c.147G>A c.(145-147)gaG>gaA p.E49E SCN8A_uc010snl.2_Silent_p.E49E NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 49 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGGACGATGAGGACAGCAAGC 0.567000 38 15 0 0 0.003163 0 0 CLVS2 134829 broad.mit.edu 37 6 123369783 123369783 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:123369783G>A uc003pzi.1 + 3 1450 c.581G>A c.(580-582)cGa>cAa p.R194Q NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 194 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TTCCCAGCGCGATTTGGAGGA 0.388000 121 34 0 0 0.006230 0 0 PCLO 27445 broad.mit.edu 37 7 82785521 82785521 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:82785521C>T uc003uhx.2 - 1 725 c.436G>A c.(436-438)Gaa>Aaa p.E146K PCLO_uc003uhv.2_Missense_Mutation_p.E146K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 146 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGTGCTCTTCCTTTAAATCA 0.403000 33 11 0 0 0.008291 0 0 MAP3K9 4293 broad.mit.edu 37 14 71216739 71216739 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:71216739C>T uc001xmm.3 - 3 1061 c.1061G>A c.(1060-1062)gGc>gAc p.G354D MAP3K9_uc010ttk.2_Missense_Mutation_p.G91D|MAP3K9_uc001xmk.3_Missense_Mutation_p.G48D|MAP3K9_uc001xml.3_Missense_Mutation_p.G354D NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 354 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GACTGCTAAGCCATCAATGCC 0.488000 39 9 0 0 0.006214 0 0 SYNE1 23345 broad.mit.edu 37 6 152861132 152861132 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:152861132C>T uc021zhb.1 - 1 315 c.92G>A c.(91-93)cGa>cAa p.R31Q SYNE1_uc003qot.4_Missense_Mutation_p.R31Q|SYNE1_uc003qou.4_Missense_Mutation_p.R31Q|SYNE1_uc010kjb.1_Missense_Mutation_p.R31Q|SYNE1_uc003qpa.1_Missense_Mutation_p.R31Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 31 Actin-binding.|CH 1. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere 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) TGTGAAAGTTCGTTTTTGTAC 0.338000 HNSCC(10;0.0054) 74 28 0 0 0.008361 0 0 DIDO1 11083 broad.mit.edu 37 20 61511906 61511906 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:61511906C>T uc002ydr.2 - 15 5714 c.5402G>A c.(5401-5403)gGa>gAa p.G1801E DIDO1_uc002yds.2_Missense_Mutation_p.G1801E NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1801 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTCTGGGCTCCGAATCTGGC 0.622000 92 39 0 0 0.008740 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922422 43922422 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:43922422C>T uc010wka.2 + 0 167 c.150C>T c.(148-150)ccC>ccT p.P50P MAPT-AS1_uc010wjz.2_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN Homo sapiens intramembrane protease 5 (IMP5), mRNA. 50 integral to membrane aspartic-type endopeptidase activity TCACCCTCCCCCGGGACCTGC 0.662000 36 27 0 0 0.006320 0 0 KIF19 124602 broad.mit.edu 37 17 72338108 72338108 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72338108G>A uc002jkm.4 + 2 352 c.214G>A c.(214-216)Gac>Aac p.D72N KIF19_uc002jkj.2_Missense_Mutation_p.D72N|KIF19_uc002jkk.2_Missense_Mutation_p.D72N|KIF19_uc002jkl.2_Missense_Mutation_p.D72N NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN Homo sapiens kinesin family member 19 (KIF19), mRNA. 72 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CGTGGCCTTTGACTTCACCGC 0.662000 134 33 0 0 0.002836 0 0 GPC6 10082 broad.mit.edu 37 13 95034789 95034789 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:95034789G>A uc001vlt.3 + 6 1906 c.1274G>A c.(1273-1275)gGg>gAg p.G425E NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 425 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.G425R(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TGCTGGAACGGGCACAGCAAA 0.552000 36 13 0 0 0.002450 0 0 CCDC67 159989 broad.mit.edu 37 11 93148173 93148173 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:93148173C>T uc001pdq.3 + 12 1631 c.1531C>T c.(1531-1533)Cat>Tat p.H511Y CCDC67_uc001pdo.1_Missense_Mutation_p.H511Y NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 511 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TAGACTTAGTCATGACTGTGA 0.383000 46 21 0 0 0.008871 0 0 KCNH5 27133 broad.mit.edu 37 14 63316401 63316401 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:63316401C>T uc001xfx.3 - 7 1590 c.1539G>A c.(1537-1539)tgG>tgA p.W513* KCNH5_uc001xfy.3_Nonsense_Mutation_p.W513*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.W455* NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 513 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTGACATGGACCATGTTGAGA 0.368000 37 10 0 0 0.000978 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997681 72997681 + Missense_Mutation SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:72997681T>A uc002lly.3 + 1 747 c.184T>A c.(184-186)Tcg>Acg p.S62T TSHZ1_uc021uln.1_Missense_Mutation_p.S62T NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 107 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGACAGCGTCTCGTACCCCCA 0.557000 19 12 0 0 0.000978 0 0 RIMS1 22999 broad.mit.edu 37 6 72967938 72967938 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:72967938G>A uc003pga.3 + 16 2958 c.2881G>A c.(2881-2883)Gat>Aat p.D961N RIMS1_uc011dyb.2_Missense_Mutation_p.D586N|RIMS1_uc003pgc.3_Missense_Mutation_p.D587N|RIMS1_uc010kaq.3_Missense_Mutation_p.D434N|RIMS1_uc011dyc.2_Missense_Mutation_p.D435N|RIMS1_uc010kar.3_Missense_Mutation_p.D354N|RIMS1_uc011dyd.2_Missense_Mutation_p.D420N|RIMS1_uc003pge.3_Missense_Mutation_p.D178N|RIMS1_uc003pgf.3_Missense_Mutation_p.D177N|RIMS1_uc003pgi.3_Missense_Mutation_p.D177N|RIMS1_uc003pgg.3_Missense_Mutation_p.D178N|RIMS1_uc003pgh.3_Missense_Mutation_p.D177N|RIMS1_uc003pgd.3_Missense_Mutation_p.D178N|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.D587N|RIMS1_uc010kas.1_Missense_Mutation_p.D420N NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 961 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TCGCGGCAATGATCAGGGAAA 0.438000 18 7 0 0 0.003080 0 0 MYOM2 9172 broad.mit.edu 37 8 2063855 2063855 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:2063855G>A uc003wpx.4 + 25 3422 c.3284G>A c.(3283-3285)gGg>gAg p.G1095E MYOM2_uc011kwi.2_Missense_Mutation_p.G520E NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1095 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATTCATGATGGGAAAGCCAAA 0.358000 26 10 0 0 0.006214 0 0 TRUB2 26995 broad.mit.edu 37 9 131073167 131073167 + Splice_Site SNP T A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:131073167T>A uc004buq.1 - 7 680 c.670_splice c.e7+1 p.E224_splice NM_015679 NP_056494 O95900 TRUB2_HUMAN Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA. 224 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 CCAACCTACCTAAGAGGAATT 0.552000 52 26 0 0 0.005443 0 0 DPH3P1 100132911 broad.mit.edu 37 20 61477138 61477138 + Silent SNP T C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:61477138T>C uc011aan.1 + 0 663 c.123T>C c.(121-123)aaT>aaC p.N41N TCFL5_uc002ydo.3_Intron|TCFL5_uc002ydp.3_Intron NM_080750 NP_542788 Q9H4G8 DPH3B_HUMAN Homo sapiens DPH3, KTI11 homolog (S. cerevisiae) pseudogene 1 (DPH3P1), mRNA. 41 metal ion binding AGCTGGAGAATGGGGAAGGTG 0.478000 6 4 0 0 0.009096 0 0 OR4D2 124538 broad.mit.edu 37 17 56247560 56247560 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:56247560C>T uc010wnp.2 + 0 544 c.544C>T c.(544-546)Ccc>Tcc p.P182S NM_001004707 NP_001004707 P58180 OR4D2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA. 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CTGTGATGTTCCCCAAGTACT 0.537000 108 33 0 0 0.003271 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107822 26107822 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:26107822C>T uc003ngj.3 - 0 543 c.500G>A c.(499-501)gGg>gAg p.G167E NM_005323 NP_005314 P22492 H1T_HUMAN Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA. 167 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 AGCCTTTCTCCCGCTCCTAAC 0.468000 91 21 0 0 0.001882 0 0 ZFAT 57623 broad.mit.edu 37 8 135649738 135649738 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:135649738G>A uc003yup.3 - 2 600 c.414C>T c.(412-414)atC>atT p.I138I ZFAT_uc003yun.3_Silent_p.I126I|ZFAT_uc003yuo.3_Silent_p.I126I|ZFAT_uc010meh.3_Silent_p.I126I|ZFAT_uc010mej.3_Silent_p.I138I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.I126I|ZFAT_uc003yur.3_Silent_p.I126I NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AATTCAGCACGATAATGCAGA 0.507000 61 23 0 0 0.003954 0 0 CLCN4 1183 broad.mit.edu 37 X 10176399 10176399 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:10176399C>T uc004csy.4 + 8 1588 c.1158C>T c.(1156-1158)ccC>ccT p.P386P CLCN4_uc011mid.2_Silent_p.P292P NM_001830 NP_001821 P51793 CLCN4_HUMAN Homo sapiens chloride channel 4 (CLCN4), mRNA. 386 early endosome membrane|integral to membrane|late endosome membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTGCCTACCCCAATCCCTACA 0.567000 20 50 0 0 0.003610 0 0 FREM1 158326 broad.mit.edu 37 9 14792826 14792826 + Missense_Mutation SNP A C C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:14792826A>C uc003zlm.3 - 22 4712 c.3896T>G c.(3895-3897)cTt>cGt p.L1299R FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1299 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TATGGCTGAAAGAATAGCACT 0.363000 3 4 0 0 0.009096 0 0 C3P1 388503 broad.mit.edu 37 19 10158089 10158089 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:10158089C>T uc010dwx.2 + 10 c.1532C>T Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA. endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 ATGAGCAGGTCCAGATCCAAG 0.502000 48 27 0 0 0.006320 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791256 50791256 + Missense_Mutation SNP C T T rs80338910 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:50791256C>T uc003pag.3 + 1 384 c.218C>T c.(217-219)cCc>cTc p.P73L NM_003221 NP_003212 Q92481 AP2B_HUMAN Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA. 73 Gln/Pro-rich (transactivation domain). P -> R (in CHAR). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TTCCCACCCCCCTACCAGCCG 0.682000 28 8 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9086150 9086150 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9086150C>T uc002mkp.3 - 0 5869 c.5665G>A c.(5665-5667)Gga>Aga p.G1889R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1889 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.M1888I(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCTGTTTCCCATAGACAGG 0.502000 31 11 0 0 0.000978 0 0 NPSR1 387129 broad.mit.edu 37 7 34889193 34889193 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:34889193G>A uc003teh.1 + 9 1270 c.1142G>A c.(1141-1143)gGa>gAa p.G381E NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.D348N|NPSR1_uc010kwt.1_Missense_Mutation_p.D195N|NPSR1_uc010kwu.1_Missense_Mutation_p.D138N|NPSR1_uc010kwv.1_Missense_Mutation_p.D282N|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 0 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AAGATCACAGGATTCCAGAAT 0.448000 55 15 0 0 0.004990 0 0 SOGA3 387104 broad.mit.edu 37 6 127796945 127796945 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127796945C>T uc003qbd.3 - 5 3091 c.2226G>A c.(2224-2226)ctG>ctA p.L742L KIAA0408_uc003qbc.3_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 742 integral to membrane CGCGGATGCCCAGGTGCGAGG 0.677000 108 36 0 0 0.009718 0 0 CDH7 1005 broad.mit.edu 37 18 63477090 63477090 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:63477090C>T uc002lkb.3 + 2 787 c.361C>T c.(361-363)Cga>Tga p.R121* CDH7_uc002ljz.3_Nonsense_Mutation_p.R121*|CDH7_uc002lka.3_Nonsense_Mutation_p.R121* NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R121*(3)|p.R121L(1) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CTACACGCTCCGAGCTCAAGC 0.488000 38 12 0 0 0.001368 0 0 FAM5C 339479 broad.mit.edu 37 1 190250829 190250829 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:190250829G>A uc001gse.1 - 2 520 c.288C>T c.(286-288)ttC>ttT p.F96F FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 96 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GAGAGCCAAGGAAATTTCTTC 0.403000 24 8 0 0 0.006214 0 0 IL2RB 3560 broad.mit.edu 37 22 37524807 37524807 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:37524807C>T uc003aqv.1 - 9 1116 c.985G>A c.(985-987)Gag>Aag p.E329K NM_000878 NP_000869 P14784 IL2RB_HUMAN Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA. 329 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TTGTCCCTCTCCAGCACTTCT 0.612000 31 21 0 0 0.002299 0 0 INPPL1 3636 broad.mit.edu 37 11 71942105 71942105 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71942105G>A uc001osf.3 + 11 1516 c.1369G>A c.(1369-1371)Gag>Aag p.E457K INPPL1_uc001osg.3_Missense_Mutation_p.E215K NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 457 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GACCCTGGACGAGGTCACAGT 0.587000 113 42 0 0 0.007835 0 0 BMPR1B 658 broad.mit.edu 37 4 96036848 96036848 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:96036848C>T uc003htm.4 + 5 533 c.259C>T c.(259-261)Cct>Tct p.P87S BMPR1B_uc010ilb.3_Missense_Mutation_p.P87S|BMPR1B_uc003htn.4_Missense_Mutation_p.P87S NM_001203 NP_001194 O00238 BMR1B_HUMAN Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA. 87 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) CACTCCCATTCCTCATCAAAG 0.363000 59 14 0 0 0.004007 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419601 105419601 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:105419601G>A uc010axc.1 - 6 2307 c.2187C>T c.(2185-2187)tcC>tcT p.S729S AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S629S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 729 nucleus p.S729S(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCAGGTCAGCGGAAGGGGTCT 0.652000 75 37 0 0 0.004878 0 0 TBX15 6913 broad.mit.edu 37 1 119427590 119427590 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:119427590G>A uc001ehl.1 - 7 1571 c.1256C>T c.(1255-1257)tCc>tTc p.S419F TBX15_uc009whj.1_Missense_Mutation_p.S243F NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 525 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TAGCCTAGGGGAAGTGGGGAA 0.532000 15 8 0 0 0.003080 0 0 PRIMA1 145270 broad.mit.edu 37 14 94203587 94203587 + Splice_Site SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94203587C>T uc001ybw.1 - 4 401 c.359_splice c.e4+1 p.R120_splice PRIMA1_uc001ybx.1_Splice_Site NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA. 120 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GAGCACTCACCTTTTTATGGC 0.493000 19 4 0 0 0.009096 0 0 LOC440041 440041 broad.mit.edu 37 11 55065005 55065005 + RNA SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55065005C>T uc021qjb.1 - 1 c.421G>A LOC440041_uc001nhl.1_Non-coding_Transcript Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA. CTGAGATTTTCACAAGCTTTT 0.398000 19 5 0 0 0.001984 0 0 TCRBV3S1 0 broad.mit.edu 37 7 142428863 142428863 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142428863G>A uc011ksk.1 + 1 240 c.223G>A c.(223-225)Gaa>Aaa p.E75K TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Missense_Mutation_p.E30K SubName: Full=V_segment translation product; Flags: Fragment; TAAAATGAAAGAAAAAGGAGA 0.453000 18 6 0 0 0.001984 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605943 5605943 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrY:5605943C>T uc004fqo.3 + 4 4717 c.3983C>T c.(3982-3984)tCc>tTc p.S1328F PCDH11Y_uc022ciy.1_Non-coding_Transcript NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 1328 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCCAGACCGTCCAGAGGTGAT 0.383000 11 25 0 0 0.003330 0 0 ADCY8 114 broad.mit.edu 37 8 131896923 131896923 + Missense_Mutation SNP C T T rs147685814 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:131896923C>T uc003ytd.4 - 7 2252 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K ADCY8_uc010mds.3_Missense_Mutation_p.E666K NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 666 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.E666K(2)|p.E665G(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTGTTAATTTCCTCAGGCCCA 0.438000 HNSCC(32;0.087) 63 27 0 0 0.004656 0 0 P4HA3 283208 broad.mit.edu 37 11 74015355 74015355 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:74015355C>T uc010rrj.2 - 1 346 c.303G>A c.(301-303)agG>agA p.R101R P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.R101R Q7Z4N8 P4HA3_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA. 101 endoplasmic reticulum lumen L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) GTACCACATTCCTCCAGTCAG 0.493000 92 61 0 0 0.003610 0 0 INTS2 57508 broad.mit.edu 37 17 59945003 59945003 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:59945003C>T uc002izn.3 - 24 3606 c.3530G>A c.(3529-3531)gGa>gAa p.G1177E INTS2_uc002izm.3_Missense_Mutation_p.G1169E NM_020748 NP_065799 Q9H0H0 INT2_HUMAN Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA. 1177 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 ATCCATGCTTCCAGTGTCCCT 0.333000 46 15 0 0 0.003163 0 0 CLGN 1047 broad.mit.edu 37 4 141317007 141317007 + Nonsense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:141317007C>T uc011chi.2 - 10 1333 c.1115G>A c.(1114-1116)tGg>tAg p.W372* CLGN_uc003iii.3_Nonsense_Mutation_p.W372* NM_001130675 NP_004353 O14967 CLGN_HUMAN Homo sapiens calmegin (CLGN), transcript variant 2, mRNA. 372 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TGGAGGTCTCCATACTCCTTT 0.398000 36 9 0 0 0.004482 0 0 CYP21A2 1589 broad.mit.edu 37 6 32006290 32006290 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32006290C>T uc003nze.2 + 0 198 c.91C>T c.(91-93)Ccg>Tcg p.P31S CYP21A2_uc003nzf.2_Missense_Mutation_p.P31S NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 30 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CCTCCACCTCCCGCCTCTTGC 0.667000 73 13 0 0 0.003163 0 0 TNIP2 79155 broad.mit.edu 37 4 2746568 2746569 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:2746568_2746569GG>AA uc003gfg.2 - 3 848_849 c.761_762CC>TT c.(760-762)ccc>cTT p.P254L TNIP2_uc003gff.2_Missense_Mutation_p.P147L NM_024309 NP_001154999 Q8NFZ5 TNIP2_HUMAN Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA. 254 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCATCAGCTCGGGCTCGTGGGG 0.599000 39 12 0 0 0.004672 0 0 ZNF812 729648 broad.mit.edu 37 19 9801757 9801757 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9801757G>A uc021uop.1 - 5 1068 c.422C>T c.(421-423)cCa>cTa p.P141L ZNF812_uc010xkx.2_Missense_Mutation_p.P37L NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTTCCACATGGATTAAATTT 0.398000 19 6 0 0 0.004482 0 0 HORMAD2 150280 broad.mit.edu 37 22 30518024 30518024 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:30518024G>A uc003agy.3 + 9 705 c.640G>A c.(640-642)Gag>Aag p.E214K NM_152510 NP_689723 Q8N7B1 HORM2_HUMAN Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA. 214 HORMA. meiosis|mitosis chromosome|nucleus large_intestine(1)|lung(1) 2 Epithelial(10;0.125) GTTTGACAAGGAGCCTATCAA 0.433000 16 4 0 0 0.009096 0 0 POTEG 404785 broad.mit.edu 37 14 19573112 19573112 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:19573112G>A uc001vuz.1 + 7 1262 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 404 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AATGTCTCAAGAACCAGAAAT 0.294000 35 3 0 0 0.001984 0 0 TBP 6908 broad.mit.edu 37 6 170873644 170873644 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:170873644C>T uc003qxu.3 + 3 788 c.509C>T c.(508-510)tCc>tTc p.S170F TBP_uc011ehf.2_Missense_Mutation_p.S150F|TBP_uc003qxt.3_Missense_Mutation_p.S170F NM_003194 NP_001165556 P20226 TBP_HUMAN Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA. 170 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) AATATTGTATCCACAGTGAAT 0.333000 24 4 0 0 0.009096 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270446 153270446 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153270446G>A uc001fbn.1 - 6 1065 c.1012C>T c.(1012-1014)Cat>Tat p.H338Y NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 338 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCTTGAAATGAGGCCAGGTG 0.582000 77 31 0 0 0.008361 0 0 PLCXD3 345557 broad.mit.edu 37 5 41381969 41381969 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41381969G>A uc003jmm.1 - 1 873 c.771C>T c.(769-771)gtC>gtT p.V257V NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA. 257 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CCACCCCTTTGACCACAGTGC 0.418000 57 20 0 0 0.003330 0 0 PSG3 5671 broad.mit.edu 37 19 43372272 43372272 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:43372272G>A uc002ovd.1 - 4 1362 c.1224C>T c.(1222-1224)tcC>tcT p.S408S PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Silent_p.S315S|PSG3_uc002ova.2_Silent_p.S315S|PSG3_uc002ouz.2_Silent_p.S408S|PSG3_uc002ovb.3_Silent_p.S408S NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 408 Ig-like C2-type 3. defense response|female pregnancy extracellular region p.S408S(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CGACTGTCATGGATTTGGAGC 0.458000 149 57 0 0 0.003610 0 0 DLG4 1742 broad.mit.edu 37 17 7106568 7106568 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:7106568C>T uc010vtn.2 - 5 666 c.406G>A c.(406-408)Gaa>Aaa p.E136K DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.E193K|DLG4_uc002get.4_Missense_Mutation_p.E239K|DLG4_uc010vto.2_Missense_Mutation_p.E236K|DLG4_uc002geu.3_Missense_Mutation_p.E193K NM_001128827 NP_001122299 P78352 DLG4_HUMAN Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA. 196 PDZ 1. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein C-terminus binding|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCACCCCCTTCGATGATCTTT 0.547000 17 4 0 0 0.001168 0 0 SWT1 54823 broad.mit.edu 37 1 185153928 185153928 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:185153928C>T uc001grg.4 + 8 1408 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C SWT1_uc001grh.4_Missense_Mutation_p.R432C NM_001105518 NP_060143 Q5T5J6 SWT1_HUMAN Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA. 432 PINc. p.R432H(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 AGAGCTAGATCGTATGAAGGA 0.343000 33 16 0 0 0.006122 0 0 IL1RL2 8808 broad.mit.edu 37 2 102818036 102818036 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:102818036G>A uc002tbs.3 + 4 636 c.510G>A c.(508-510)ggG>ggA p.G170G IL1RL2_uc002tbt.3_Silent_p.G53G NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA. 170 Ig-like C2-type 2. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 AGATTAAAGGGGAGCGGTTCA 0.413000 35 10 0 0 0.008291 0 0 COL6A6 131873 broad.mit.edu 37 3 130311941 130311941 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:130311941G>A uc010htl.3 + 14 4439 c.4408G>A c.(4408-4410)Gga>Aga p.G1470R COL6A6_uc003eni.4_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1470 Triple-helical region. axon guidance|cell adhesion collagen p.N1469N(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGGATTAAACGGAGAACAGGT 0.378000 128 48 0 0 0.003610 0 0 AURKA 6790 broad.mit.edu 37 20 54961538 54961538 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:54961538G>A uc002xxe.1 - 3 351 c.94C>T c.(94-96)Cct>Tct p.P32S AURKA_uc002xxf.1_Missense_Mutation_p.P32S|AURKA_uc002xxg.1_Missense_Mutation_p.P32S|AURKA_uc002xxh.1_Missense_Mutation_p.P32S|AURKA_uc002xxi.1_Missense_Mutation_p.P32S|AURKA_uc002xxj.1_Missense_Mutation_p.P32S|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.P32S NM_198434 NP_940839 O14965 AURKA_HUMAN Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA. 32 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) TTCTGACAAGGAAATTGCTGA 0.443000 39 15 0 0 0.002450 0 0 PROKR2 128674 broad.mit.edu 37 20 5294809 5294809 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:5294809G>A uc010zqw.2 - 0 215 c.207C>T c.(205-207)atC>atT p.I69I PROKR2_uc010zqx.2_Silent_p.I69I|PROKR2_uc010zqy.2_Silent_p.I69I|AX746654_uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 69 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CAAAGTTACCGATGCCGCAGA 0.542000 HNSCC(71;0.22) 47 32 0 0 0.002096 0 0 TMIGD1 388364 broad.mit.edu 37 17 28656313 28656313 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:28656313C>T uc002hfa.1 - 2 390 c.317G>A c.(316-318)gGg>gAg p.G106E TMIGD1_uc010csh.1_Missense_Mutation_p.G106E NM_206832 NP_996663 Q6UXZ0 TMIG1_HUMAN Homo sapiens transmembrane and immunoglobulin domain containing 1 (TMIGD1), mRNA. 106 Ig-like C2-type 1. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 CTGATCCCTCCCCAGCCTGCA 0.458000 37 13 0 0 0.002450 0 0 OR2G3 81469 broad.mit.edu 37 1 247768910 247768910 + Missense_Mutation SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247768910C>T uc010pyz.2 + 0 23 c.23C>T c.(22-24)tCc>tTc p.S8F NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S8F(2)|p.S7I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AATGAGAGTTCCCTAATGGAT 0.468000 41 13 0 0 0.001368 0 0 ATP2C2 9914 broad.mit.edu 37 16 84482186 84482186 + Silent SNP C T T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:84482186C>T uc010chj.3 + 16 1640 c.1551C>T c.(1549-1551)atC>atT p.I517I ATP2C2_uc002fhx.3_Silent_p.I517I|ATP2C2_uc002fhy.3_Silent_p.I534I|ATP2C2_uc002fhz.3_Silent_p.I366I NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 517 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 AAGAGGTGATCCGCTACTGCA 0.527000 25 25 0 0 0.003954 0 0 TRPV4 59341 broad.mit.edu 37 12 110246249 110246249 + Silent SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:110246249G>A uc001tpj.2 - 1 506 c.411C>T c.(409-411)gcC>gcT p.A137A TRPV4_uc001tpg.2_Silent_p.A103A|TRPV4_uc021rdp.1_Silent_p.A137A|TRPV4_uc001tph.2_Silent_p.A137A|TRPV4_uc001tpi.2_Silent_p.A137A|TRPV4_uc001tpk.2_Silent_p.A137A NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 137 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GAGGGGCAGGGGCTTTGGGGC 0.657000 23 6 0 0 0.001168 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100148 121100148 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:121100148G>A uc003eec.4 + 22 2568 c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K STXBP5L_uc011bji.2_Missense_Mutation_p.E786K NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 810 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGAAAACCGAGAAAATTCCTA 0.294000 35 14 0 0 0.002450 0 0 PTH 5741 broad.mit.edu 37 11 13514157 13514157 + Missense_Mutation SNP G A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:13514157G>A uc001mlb.3 - 2 258 c.143C>T c.(142-144)tCg>tTg p.S48L NM_000315 NP_000306 P01270 PTHY_HUMAN Homo sapiens parathyroid hormone (PTH), mRNA. 48 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding p.S48L(2) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) TCTCTCCATCGAGTTCAGATG 0.498000 39 24 0 0 0.006320 0 0 LCE1B 353132 broad.mit.edu 37 1 152785074 152785097 + In_Frame_Del DEL GCTGTGGCTCCAGCTCTGGGGGAA - - rs79241619 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152785074_152785097delGCTGTGGCTCCAGCTCTGGGGGAA uc001faq.3 + 0 628_651 c.152_175delGCTGTGGCTCCAGCTCTGGGGGAA c.(151-177)tgctgtggctccagctctgggggaagc>tgc p.CGSSSGGS52del NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN Homo sapiens late cornified envelope 1B (LCE1B), mRNA. 52 Gly-rich. keratinization p.C51F(2)|p.S56C(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCCGGAGGCTGCTGTGGCTCCAGCTCTGGGGGAAGCTGTGGCTC 0.652 --- 82 --- --- 12 --- ARIH2 10425 broad.mit.edu 37 3 49008031 49008031 + Frame_Shift_Del DEL C - - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49008031delC uc003cvb.3 + 7 976 c.664delC c.(664-666)catfs p.H222fs ARIH2_uc003cvc.3_Frame_Shift_Del_p.H222fs|ARIH2_uc003cvf.3_Frame_Shift_Del_p.H140fs|ARIH2_uc010hkl.3_Frame_Shift_Del_p.H222fs NM_006321 NP_006312 O95376 ARI2_HUMAN Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA. 222 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TTCACAGAGTCATTACCAGCT 0.502 --- 76 --- --- 14 --- SRP72 6731 broad.mit.edu 37 4 57350909 57350909 + Frame_Shift_Del DEL A - - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:57350909delA uc003hbv.3 + 9 1005 c.965delA c.(964-966)caafs p.Q322fs SRP72_uc010ihe.3_Frame_Shift_Del_p.Q261fs NM_006947 NP_008878 O76094 SRP72_HUMAN Homo sapiens signal recognition particle 72kDa (SRP72), mRNA. 322 SRP-dependent cotranslational protein targeting to membrane|response to drug cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) TAGGCTGAACAATGCCGCAAA 0.418 --- 40 --- --- 20 --- RAD17 5884 broad.mit.edu 37 5 68709960 68709960 + Frame_Shift_Del DEL G - - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:68709960delG uc003jwo.3 + 15 1949 c.1887delG c.(1885-1887)ctgfs p.L629fs RAD17_uc003jwg.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwi.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwh.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwj.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwk.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwl.3_Frame_Shift_Del_p.L618fs|RAD17_uc003jwm.3_Frame_Shift_Del_p.L453fs|RAD17_uc003jwn.3_Frame_Shift_Del_p.L532fs|MARVELD2_uc003jwq.3_5'Flank|MARVELD2_uc010ixf.3_5'Flank NM_133339 NP_579917 O75943 RAD17_HUMAN Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA. 629 Interaction with MCM7. DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AGGAATCTCTGGGTGAACCCA 0.527 Other conserved DNA damage response genes --- 66 --- --- 28 --- GEMIN5 25929 broad.mit.edu 37 5 154271035 154271036 + Frame_Shift_Del DEL AA - - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:154271035_154271036delAA uc003lvx.3 - 25 4110_4111 c.4027_4028delTT c.(4027-4029)ttgfs p.L1343fs GEMIN5_uc011ddk.1_Frame_Shift_Del_p.L1342fs NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 1343 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding p.D1342H(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGTGAGTCTCAAGTCTAGTTCT 0.475 --- 111 --- --- 28 --- KLHL32 114792 broad.mit.edu 37 6 97587157 97587158 + Frame_Shift_Ins INS - A A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:97587157_97587158insA uc010kcm.1 + 10 2334_2335 c.1862_1863insA c.(1861-1863)tgafs p.*621fs KLHL32_uc003poz.2_Frame_Shift_Ins_p.*177fs|KLHL32_uc011ead.1_Frame_Shift_Ins_p.*585fs|KLHL32_uc011eae.1_Frame_Shift_Ins_p.*552fs|KLHL32_uc003ppa.2_Non-coding_Transcript|MIR548H3_uc021zda.1_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA. 0 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GGCACCATCTGAAAAGCCAAGC 0.450 --- 52 --- --- 19 --- ZKSCAN5 23660 broad.mit.edu 37 7 99128970 99128970 + Frame_Shift_Del DEL A - - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:99128970delA uc003uqv.3 + 6 1742 c.1618delA c.(1618-1620)aaafs p.K540fs ZKSCAN5_uc010lfx.3_Frame_Shift_Del_p.K540fs|ZKSCAN5_uc003uqw.3_Frame_Shift_Del_p.K540fs|ZKSCAN5_uc003uqx.3_Frame_Shift_Del_p.K467fs|ZKSCAN5_uc003uqy.3_Frame_Shift_Del_p.K276fs NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA. 540 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ATATGTCCACAAAAAATCCTC 0.418 --- 23 --- --- 13 --- LMBR1 64327 broad.mit.edu 37 7 156589158 156589158 + Frame_Shift_Del DEL G - - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:156589158delG uc010lqn.3 - 4 563 c.348delC c.(346-348)tccfs p.S116fs LMBR1_uc003wmv.4_5'UTR|LMBR1_uc003wmw.4_Frame_Shift_Del_p.S116fs|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Frame_Shift_Del_p.S95fs NM_022458 NP_071903 Q8WVP7 LMBR1_HUMAN Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA. 116 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) AACAAAGGTTGGAAAAAAGGG 0.333 --- 16 --- --- 9 --- ABO 28 broad.mit.edu 37 9 136131057 136131057 + Frame_Shift_Del DEL G - - rs8176750 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:136131057delG uc004cda.1 - 7 1083 c.1058delC c.(1057-1059)ccgfs p.P353fs ABO_uc010naf.1_Frame_Shift_Del_p.P213fs|ABO_uc011mcz.1_Frame_Shift_Del_p.P213fs|ABO_uc010nag.1_Frame_Shift_Del_p.P213fs NM_020469 NP_065202 P16442 BGAT_HUMAN Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA. 354 protein glycosylation Golgi cisterna membrane|extracellular region|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding p.P353fs?(2) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGCCGCTCACGGGTTCCGGAC 0.662 --- 3 --- --- 5 --- ABLIM1 3983 broad.mit.edu 37 10 116361718 116361718 + Frame_Shift_Del DEL C - - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:116361718delC uc021pyx.1 - 1 346 c.247delG c.(247-249)gccfs p.A83fs ABLIM1_uc021pyw.1_Frame_Shift_Del_p.A83fs|ABLIM1_uc021pyy.1_Frame_Shift_Del_p.A23fs|ABLIM1_uc021pyz.1_Frame_Shift_Del_p.A17fs|ABLIM1_uc021pza.1_Frame_Shift_Del_p.A23fs|ABLIM1_uc021pze.1_Frame_Shift_Del_p.A7fs|ABLIM1_uc021pzf.1_Frame_Shift_Del_p.A17fs|ABLIM1_uc001lbz.1_Frame_Shift_Del_p.A6fs NM_002313 NP_002304 O14639 ABLM1_HUMAN Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA. 83 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding p.A23S(1)|p.A83S(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TGAGGGTGGGCCACTGAAAGA 0.493 --- 27 --- --- 23 ---