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 CRHR1 1394 broad.mit.edu 37 17 43908262 43908262 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:43908262C>T uc010dap.3 + 8 1078 c.813C>T c.(811-813)atC>atT p.I271I CRHR1_uc010wjx.2_Silent_p.I67I|CRHR1_uc002ijp.3_Silent_p.I141I|CRHR1_uc002ijm.3_Silent_p.I242I|CRHR1_uc002ijn.3_Silent_p.I202I|CRHR1_uc010dar.3_Silent_p.I242I|CRHR1_uc010dao.3_Silent_p.I141I|CRHR1_uc010daq.3_Silent_p.I67I|CRHR1_uc021tyu.1_Silent_p.I67I NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 271 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCTTCCCCATCATTGTGGCCT 0.607000 49 13 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31805443 31805443 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:31805443G>A uc002wyr.3 + 0 309 c.101G>A c.(100-102)aGa>aAa p.R34K BPIFA3_uc002wys.3_Missense_Mutation_p.R34K NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA. 34 extracellular region lipid binding CAAGCCCACAGAGACAACAAA 0.622000 77 25 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713508 23713508 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:23713508G>A uc002dma.4 - 10 1481 c.1312C>T c.(1312-1314)Cca>Tca p.P438S ERN2_uc010bxp.3_Missense_Mutation_p.P438S|ERN2_uc010bxq.1_Missense_Mutation_p.P246S NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 390 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GTATTCTCTGGAGGTCTTGTC 0.632000 77 49 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21265292 21265292 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:21265292G>A uc001unh.3 + 27 2876 c.2480G>A c.(2479-2481)gGa>gAa p.G827E IFT88_uc001uni.3_Missense_Mutation_p.G818E|IFT88_uc001unj.3_Missense_Mutation_p.G817E|IFT88_uc010tcq.2_Missense_Mutation_p.G798E NM_175605 NP_006522 Q13099 IFT88_HUMAN Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA. 827 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) GAAGAATTAGGAGATGATTTG 0.363000 13 21 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648726 20648726 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:20648726G>A uc002dhm.1 - 7 1232 c.1164C>T c.(1162-1164)ttC>ttT p.F388F ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F388F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 388 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 CCTTCCCCATGAAACCCGGCT 0.537000 79 35 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66070837 66070837 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:66070837C>T uc001dci.3 + 10 1909 c.1520C>T c.(1519-1521)tCt>tTt p.S507F LEPR_uc001dcg.3_Missense_Mutation_p.S507F|LEPR_uc001dch.3_Missense_Mutation_p.S507F|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.S507F|LEPR_uc001dcj.3_Missense_Mutation_p.S507F|LEPR_uc001dck.3_Missense_Mutation_p.S507F NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 507 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) TTCCTATTATCTGGCTACACA 0.413000 77 25 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12923645 12923645 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:12923645C>T uc021qdx.1 + 9 1478 c.858C>T c.(856-858)ttC>ttT p.F286F TEAD1_uc001mkk.4_Silent_p.F190F|TEAD1_uc009ygl.3_Intron NM_021961 NP_068780 P28347 TEAD1_HUMAN Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA. 286 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) ATGCCTTCTTCCTCGTAAAAT 0.428000 66 68 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109610100 109610100 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:109610100C>T uc001tob.3 + 5 1175 c.1056C>T c.(1054-1056)ggC>ggT p.G352G ACACB_uc001toc.3_Silent_p.G352G NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 352 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding p.W351*(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CTGGCTGGGGCCATGCTTCAG 0.512000 211 77 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43411146 43411146 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:43411146G>A uc002ovj.1 - 4 1267 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.L230F|PSG4_uc002ovg.1_Missense_Mutation_p.L390F NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 391 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CAAGCATAGAGCCCGCTATGA 0.448000 165 124 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103988684 103988684 + Silent SNP A T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:103988684A>T uc003hwx.4 - 1 896 c.24T>A c.(22-24)atT>atA p.I8I SLC9B2_uc003hwy.3_Silent_p.I8I|SLC9B2_uc011cew.2_Silent_p.I8I|SLC9B2_uc011cex.1_Silent_p.I8I|SLC9B2_uc011cey.2_Silent_p.I8I NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA. 8 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity CTTCATATGTAATTCTTTTAT 0.353000 23 21 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31273112 31273112 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:31273112G>A uc002ebr.3 + 1 226 c.128G>A c.(127-129)gGa>gAa p.G43E ITGAM_uc002ebq.3_Missense_Mutation_p.G43E NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 43 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CAGCTTCAGGGATCCAGGTGA 0.488000 16 4 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33372865 33372865 + Nonsense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:33372865C>A uc002nty.3 - 17 2109 c.2020G>T c.(2020-2022)Gag>Tag p.E674* CEP89_uc002ntx.3_Nonsense_Mutation_p.E427*|CEP89_uc010edg.3_Non-coding_Transcript NM_032816 NP_116205 Q96ST8 CEP89_HUMAN Homo sapiens centrosomal protein 89kDa (CEP89), mRNA. 674 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TCCTGCTGCTCCAGCAGACGG 0.637000 8 5 0.000602214 0.000604748 1 1 0 CALD1 800 broad.mit.edu 37 7 134618203 134618203 + Missense_Mutation SNP T C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:134618203T>C uc003vrz.3 + 4 1149 c.683T>C c.(682-684)tTa>tCa p.L228S CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Missense_Mutation_p.L92S NM_033138 NP_149129 Q05682 CALD1_HUMAN Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA. 228 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GTAATGTCATTAAAAAATGGG 0.448000 37 22 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35800230 35800230 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:35800230C>T uc003jjo.3 + 33 5102 c.4991C>T c.(4990-4992)tCc>tTc p.S1664F SPEF2_uc003jjp.1_Missense_Mutation_p.S1150F|SPEF2_uc003jjr.3_Missense_Mutation_p.S719F NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1664 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCAAAGCTTCCATTCCAAGT 0.458000 48 53 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:150156360G>A uc004fep.3 + 4 668 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E NM_005342 NP_005333 O15347 HMGB3_HUMAN Homo sapiens high mobility group box 3 (HMGB3), mRNA. 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(2) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 41 4 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140735748 140735748 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140735748C>T uc003ljq.2 + 0 981 c.981C>T c.(979-981)ctC>ctT p.L327L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.L327L NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 330 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) GGCCTGGTCTCCGAGCTAGAA 0.458000 5 3 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490895 48490895 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:48490895C>T uc003gyc.2 + 2 1472 c.1253C>T c.(1252-1254)tCc>tTc p.S418F ZAR1_uc003gyd.3_5'Flank NM_152679 NP_689892 Q96EP9 NTCP4_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA. 418 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 GCAGACACTTCCTATGGCACA 0.363000 31 27 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114680609 114680609 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:114680609C>T uc021osa.1 - 2 657 c.579G>A c.(577-579)gaG>gaA p.E193E SYT6_uc021orz.1_Silent_p.E108E|SYT6_uc001eev.3_Silent_p.E108E NM_001253772 NP_001240701 Q5T7P8 SYT6_HUMAN Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA. 193 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGTGGAAGCTCATTGCCAT 0.597000 51 12 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67860896 67860896 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:67860896G>A uc010vka.2 + 12 1661 c.1585G>A c.(1585-1587)Gag>Aag p.E529K TSNAXIP1_uc010vjz.1_Missense_Mutation_p.E352K|TSNAXIP1_uc002euf.4_Missense_Mutation_p.E208K|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.E460K|TSNAXIP1_uc002eug.4_Missense_Mutation_p.E183K|TSNAXIP1_uc002euh.4_Missense_Mutation_p.E183K|TSNAXIP1_uc002eui.4_Missense_Mutation_p.E183K|TSNAXIP1_uc002euj.3_Missense_Mutation_p.E475K|TSNAXIP1_uc002euk.3_Missense_Mutation_p.E208K NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA. 475 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CACCCAGAAGGAGACAGTAGC 0.522000 80 38 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123260486 123260486 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:123260486C>T uc003ieh.3 + 69 12320 c.12275C>T c.(12274-12276)cCt>cTt p.P4092L KIAA1109_uc003iem.3_Missense_Mutation_p.P448L|KIAA1109_uc003ien.3_Missense_Mutation_p.P26L NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 4092 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACTACATATCCTGCAGAGACT 0.413000 68 11 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59157865 59157865 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:59157865G>A uc010dps.1 + 0 231 c.79G>A c.(79-81)Gac>Aac p.D27N CDH20_uc002lif.2_Missense_Mutation_p.D21N NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 27 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) GGGGCTGATGGACCTTACGAC 0.512000 38 51 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18747456 18747456 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:18747456C>T uc001rdt.3 + 28 4033 c.3917C>T c.(3916-3918)tCt>tTt p.S1306F PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S1347F|PIK3C2G_uc010sic.2_Missense_Mutation_p.S1125F NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1306 PX. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.S1306Y(1) breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTTTTCCTCTCTGAGGCTGTG 0.289000 27 11 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081172 95081172 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:95081172G>A uc001ydp.3 + 1 553 c.394G>A c.(394-396)Gag>Aag p.E132K SERPINA3_uc001ydo.4_Missense_Mutation_p.E157K|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E132K|SERPINA3_uc001yds.3_Missense_Mutation_p.E132K NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 132 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GTCCAGCGATGAGCTGCAGCT 0.537000 30 16 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8564455 8564455 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:8564455G>A uc002mkd.3 - 1 300 c.237C>T c.(235-237)ctC>ctT p.L79L NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 127 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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 GCTTCTTGGGGAGGTCAGTGA 0.667000 193 9 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214914 3214914 + Missense_Mutation SNP T C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:3214914T>C uc010zqe.2 - 4 592 c.467A>G c.(466-468)gAc>gGc p.D156G SLC4A11_uc002wig.3_Missense_Mutation_p.D129G|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.D113G NM_001174090 NP_001167561 Q8NBS3 S4A11_HUMAN Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA. 129 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GCCATCTAGGTCGCGGTGCGC 0.602000 163 5 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34881062 34881062 + Silent SNP T C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:34881062T>C uc010wcy.2 - 6 1403 c.411A>G c.(409-411)ggA>ggG p.G137G MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.G137G|MYO19_uc010wcz.1_Non-coding_Transcript|MYO19_uc010wda.1_Intron|MYO19_uc002hmx.2_Silent_p.G137G NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA. 137 Myosin head-like. mitochondrial outer membrane|myosin complex ATP binding|actin binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTCCTACCTTTCCAGCACCAC 0.522000 166 11 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325020 79325020 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:79325020C>T uc010mpk.3 - 7 2294 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K PRUNE2_uc022bih.1_Missense_Mutation_p.E546K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 724 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTACCCAGTTCAGGCTGACCA 0.468000 9 29 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79841703 79841703 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:79841703G>A uc003hlp.1 - 5 1130 c.926C>T c.(925-927)tCa>tTa p.S309L PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Missense_Mutation_p.S191L NM_001040202 NP_001035292 Q6TCH7 PAQR3_HUMAN Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA. 309 Golgi membrane|integral to membrane receptor activity p.S309S(1) breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 TCACAAATGTGAAACATAGTC 0.383000 81 4 0 0 1 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285190 44285190 + Missense_Mutation SNP G A A rs1998749 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:44285190G>A uc010qfe.1 - 0 676 c.646C>T c.(646-648)Cgt>Tgt p.R216C Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA. CCACCTCCACGACCCCTCTGT 0.473000 26 27 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678689 3678689 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:3678689C>T uc002wja.3 - 7 1878 c.1878G>A c.(1876-1878)gtG>gtA p.V626V SIGLEC1_uc002wiz.4_Silent_p.V626V NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 626 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding 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 GGTCGCTGTCCACACGGCACA 0.672000 36 10 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52850901 52850901 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:52850901G>A uc001ctt.3 - 9 1746 c.1515C>T c.(1513-1515)ccC>ccT p.P505P ORC1_uc010oni.2_Silent_p.P500P|ORC1_uc001ctu.3_Silent_p.P505P NM_004153 NP_004144 Q13415 ORC1_HUMAN Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA. 505 Necessary and sufficient for ORC complex assembly. DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GTTCCCGACAGGGAAGAGACT 0.473000 95 18 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3319465 3319465 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:3319465G>A uc001akf.3 + 5 869 c.787G>A c.(787-789)Ggc>Agc p.G263S PRDM16_uc001ake.3_Missense_Mutation_p.G263S|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.G263S NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 263 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCTCTACGAGGGCCTGGCTGA 0.632000 T EVI1 """MDS, AML""" 45 33 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67298300 67298300 + Nonsense_Mutation SNP G T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:67298300G>T uc002esm.3 + 12 1951 c.1888G>T c.(1888-1890)Gag>Tag p.E630* SLC9A5_uc010cee.3_Nonsense_Mutation_p.E335*|SLC9A5_uc010vji.2_Nonsense_Mutation_p.E134* NM_004594 NP_004585 Q14940 SL9A5_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA. 630 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GGATGCGCAGGAGCGGCAGGA 0.577000 30 8 9.70103e-10 9.86639e-10 1 1 0 BDKRB1 623 broad.mit.edu 37 14 96730546 96730546 + Missense_Mutation SNP G A A rs145002930 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:96730546G>A uc021sbj.1 + 0 527 c.527G>A c.(526-528)cGa>cAa p.R176Q BDKRB1_uc001yfh.3_Missense_Mutation_p.R176Q NM_000710 NP_000701 P46663 BKRB1_HUMAN Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA. 176 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TTCCTGCTGCGATCCATCCAA 0.612000 47 19 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149003640 149003640 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:149003640G>A uc003lra.1 + 9 1465 c.1401G>A c.(1399-1401)acG>acA p.T467T NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA. 467 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TGGGCCGGACGAGTAACCAGC 0.582000 41 24 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155295197 155295197 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:155295197C>T uc002tyt.4 + 9 1593 c.1489C>T c.(1489-1491)Cac>Tac p.H497Y GALNT13_uc002tyr.4_Missense_Mutation_p.H497Y|GALNT13_uc010fod.3_Missense_Mutation_p.P229L|AX746678_uc002tyu.1_Intron NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 497 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.H497R(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GTTAAAATGCCACCATATGAG 0.333000 51 25 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157556184 157556184 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:157556184C>T uc001fqw.3 - 5 1045 c.909G>A c.(907-909)ggG>ggA p.G303G FCRL4_uc010phy.2_Non-coding_Transcript NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Homo sapiens Fc receptor-like 4 (FCRL4), mRNA. 303 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CCAGCATCTCCCCTTCAACAG 0.602000 112 27 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563733 176563733 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:176563733G>A uc001gkz.3 + 2 2157 c.993G>A c.(991-993)aaG>aaA p.K331K PAPPA2_uc001gky.1_Silent_p.K331K|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 331 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 GGAAGGACAAGGGAAAGCGGG 0.552000 52 18 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79025306 79025306 + Missense_Mutation SNP A T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:79025306A>T uc003kgc.3 + 1 790 c.718A>T c.(718-720)Att>Ttt p.I240F NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 240 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAGAATTAATTCCTCTACA 0.313000 29 9 0 0 1 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71259856 71259856 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:71259856C>T uc001oqs.1 + 0 391 c.153C>T c.(151-153)gcC>gcT p.A51A NM_005553 NP_005544 P26371 KRA59_HUMAN Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA. 51 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 GTGTTCCAGCCTGTTCCTGCT 0.647000 94 131 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66074565 66074565 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:66074565G>A uc001dci.3 + 11 2122 c.1733G>A c.(1732-1734)gGa>gAa p.G578E LEPR_uc001dcg.3_Missense_Mutation_p.G578E|LEPR_uc001dch.3_Missense_Mutation_p.G578E|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.G578E|LEPR_uc001dcj.3_Missense_Mutation_p.G578E|LEPR_uc001dck.3_Missense_Mutation_p.G578E NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 578 Fibronectin type-III 2. 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) GGTTTAAGTGGAAAAGAAGTA 0.303000 50 14 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202232 248202232 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248202232C>T uc001idw.3 + 0 759 c.663C>T c.(661-663)ctC>ctT p.L221L OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V220A(1) 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) GCCGGGTTCTCCTTGCTGTCT 0.502000 227 30 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131418768 131418768 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:131418768C>T uc011blq.2 - 3 581 c.471G>A c.(469-471)ggG>ggA p.G157G CPNE4_uc003eok.3_Silent_p.G139G|CPNE4_uc003eol.3_Silent_p.G157G|CPNE4_uc003eom.3_Silent_p.G139G NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 139 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 TGGAAGATTTCCCTGCTGTGT 0.502000 18 17 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769860 50769860 + Missense_Mutation SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:50769860A>G uc002xwl.3 - 5 1220 c.871T>C c.(871-873)Ttc>Ctc p.F291L ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.F289L|ZFP64_uc002xwn.3_Missense_Mutation_p.F237L NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA. 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 ACATTGCAGAACTCGCACTTG 0.547000 48 64 0 0 1 0 0 CCDC25 55246 broad.mit.edu 37 8 27614250 27614250 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:27614250G>A uc003xgc.3 - 3 267 c.154C>T c.(154-156)Ctt>Ttt p.L52F CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Intron|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Intron|CCDC25_uc003xgf.1_Non-coding_Transcript NM_018246 NP_060716 Q86WR0 CCD25_HUMAN Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA. 52 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) TGTAATCGAAGGTATACATGA 0.363000 14 16 0 0 1 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995558 19995558 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:19995558G>A uc002ktv.1 - 0 2321 c.2217C>T c.(2215-2217)ttC>ttT p.F739F NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 739 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGGCTGGGGGGAAAAATGCAG 0.498000 13 20 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120764282 120764282 + Splice_Site SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:120764282G>A uc003eec.4 + 5 510 c.370_splice c.e5-1 p.G124_splice STXBP5L_uc011bji.2_Splice_Site_p.G124_splice NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 124 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) TTTGTTCTAGGGTGCCTTGGT 0.358000 103 12 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21338406 21338406 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:21338406C>T uc002kuq.3 + 6 1080 c.994C>T c.(994-996)Cgc>Tgc p.R332C LAMA3_uc010dlv.2_Missense_Mutation_p.R332C|LAMA3_uc002kur.3_Missense_Mutation_p.R332C NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 332 Domain V.|Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACGTGTGATCGCTGCTGCAC 0.597000 30 3 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40483533 40483533 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40483533G>A uc002hzl.1 - 10 1306 c.1066C>T c.(1066-1068)Cct>Tct p.P356S STAT3_uc002hzk.1_Missense_Mutation_p.P356S|STAT3_uc002hzm.1_Missense_Mutation_p.P356S|STAT3_uc010wgh.1_Missense_Mutation_p.P258S|STAT3_uc002hzn.1_Missense_Mutation_p.P356S NM_139276 NP_644805 P40763 STAT3_HUMAN Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA. 356 JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTCAACTCAGGGAATTTGACC 0.303000 Hyperimmunoglobulin E Recurrent Infection Syndrome 17 6 0 0 1 0 0 FAM75C1 441452 broad.mit.edu 37 9 90535766 90535766 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:90535766C>T uc010mqi.3 + 3 973 c.944C>T c.(943-945)tCc>tTc p.S315F FAM75C1_uc004apq.4_Missense_Mutation_p.S298F NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. GATCATCTTTCCCGCCAAAGG 0.552000 43 127 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31383818 31383818 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:31383818C>T uc002ebt.3 + 17 2347 c.2280C>T c.(2278-2280)taC>taT p.Y760Y ITGAX_uc002ebu.1_Silent_p.Y760Y NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 760 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CTCAGAGATACTTCACGGCCT 0.632000 39 22 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70201880 70201881 + Nonsense_Mutation DNP CC TT TT rs145603046 byFrequency TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:70201880_70201881CC>TT uc001opo.3 + 17 2666_2667 c.2451_2452CC>TT c.(2449-2454)ggccga>ggTTga p.R818* PPFIA1_uc001opn.2_Nonsense_Mutation_p.R818*|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript NM_003626 NP_003617 Q13136 LIPA1_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA. 818 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AAGAAAAGGGCCGACCTGGACA 0.545000 34 35 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201031193 201031193 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:201031193C>T uc001gvv.3 - 23 3159 c.2932G>A c.(2932-2934)Ggg>Agg p.G978R NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 978 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) ATGGGGTCCCCGTCCTTGTAC 0.617000 19 20 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89943434 89943434 + Missense_Mutation SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:89943434A>G uc003kju.3 + 16 3238 c.3142A>G c.(3142-3144)Aga>Gga p.R1048G GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1048 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) GGCTACTGCAAGAGAGAGAGA 0.418000 50 42 0 0 1 0 0 CEACAM16 388551 broad.mit.edu 37 19 45206729 45206729 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:45206729G>A uc010xxd.2 + 2 354 c.148G>A c.(148-150)Gcc>Acc p.A50T NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA. 50 p.S49S(1) endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) GGAACTGCTCGCCTACAGCTG 0.647000 52 11 0 0 1 0 0 MCCC2 64087 broad.mit.edu 37 5 70900256 70900256 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:70900256C>T uc003kbs.4 + 5 723 c.585C>T c.(583-585)ttC>ttT p.F195F MCCC2_uc010iyv.1_Silent_p.F195F|MCCC2_uc003kbt.4_Non-coding_Transcript|MCCC2_uc003kbu.1_Silent_p.F64F NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA. 195 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GCCGTACATTCTATAATCAGG 0.363000 38 24 0 0 1 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285883 248285883 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248285883C>T uc001idy.1 + 0 446 c.446C>T c.(445-447)tCc>tTc p.S149F Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. ATCATTGCTTCCTATGCTGGA 0.428000 425 13 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58722937 58722937 + Silent SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:58722937C>A uc002qrq.1 + 7 1320 c.861C>A c.(859-861)acC>acA p.T287T ZNF274_uc002qrr.1_Silent_p.T255T|ZNF274_uc002qrs.1_Silent_p.T182T|ZNF274_uc010eum.1_Silent_p.T47T NM_133502 NP_598009 Q96GC6 ZN274_HUMAN Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA. 288 KRAB 2. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) AGCCAGTGACCTTCCAGGATG 0.582000 196 65 8.3131e-28 8.57663e-28 1 1 0 TAS1R1 80835 broad.mit.edu 37 1 6631189 6631189 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:6631189C>T uc001ant.3 + 1 508 c.412C>T c.(412-414)Cct>Tct p.P138S TAS1R1_uc001anu.3_Missense_Mutation_p.P138S|TAS1R1_uc021ofp.1_Missense_Mutation_p.P60S NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 138 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCACTATTCCCCTACGGTGCT 0.592000 92 56 0 0 1 0 0 TTC21B 79809 broad.mit.edu 37 2 166786250 166786250 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:166786250G>A uc002udk.3 - 9 1228 c.1095C>T c.(1093-1095)atC>atT p.I365I TTC21B_uc002udl.3_Silent_p.I365I NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA. 365 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 ACTGACATTGGATAAATCCTA 0.368000 22 19 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284364 223284364 + Silent SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:223284364A>G uc021pjl.1 - 0 2010 c.2010T>C c.(2008-2010)tgT>tgC p.C670C TLR5_uc001hnv.2_Silent_p.C670C|TLR5_uc001hnw.2_Silent_p.C670C NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 670 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CTGTCTTATAACAGATAAAAC 0.458000 73 15 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940632 22940632 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:22940632C>T uc021urt.1 - 3 2234 c.2079G>A c.(2077-2079)agG>agA p.R693R NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTCCTAAGGGCTG 0.373000 53 22 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103317235 103317235 + Missense_Mutation SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:103317235A>G uc001vpi.4 + 25 3395 c.3292A>G c.(3292-3294)Atg>Gtg p.M1098V NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 1098 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTATATTGCAATGAAGACTGA 0.358000 28 6 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20796595 20796595 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:20796595C>T uc002zsl.2 - 6 1827 c.1670G>A c.(1669-1671)gGc>gAc p.G557D KLHL22_uc011ahr.2_Missense_Mutation_p.G414D NM_032775 NP_116164 Q53GT1 KLH22_HUMAN Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA. 557 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGTGCGGCTGCCGCGGTTGTG 0.612000 81 26 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16266988 16266988 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:16266988C>T uc010gqp.2 - 8 1513 c.1461G>A c.(1459-1461)agG>agA p.R487R POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.R206R|POTEH_uc002zlj.1_Silent_p.R322R NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 487 p.R487K(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTCTGCTTTTCCTTGGTGGAA 0.433000 217 59 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38241319 38241319 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:38241319G>A uc001ize.1 - 5 1212 c.1107C>T c.(1105-1107)ccC>ccT p.P369P ZNF25_uc001izf.1_Silent_p.P333P NM_145011 NP_659448 P17030 ZNF25_HUMAN Homo sapiens zinc finger protein 25 (ZNF25), mRNA. 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TGCATTCATAGGGCTTCTCCC 0.408000 20 34 0 0 1 0 0 C5orf54 63920 broad.mit.edu 37 5 159821898 159821898 + Missense_Mutation SNP G C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:159821898G>C uc003lye.1 - 1 1064 c.600C>G c.(598-600)atC>atG p.I200M C5orf54_uc003lyf.1_Missense_Mutation_p.I200M|C5orf54_uc021yhc.1_Missense_Mutation_p.I200M NM_022090 NP_071373 Q8IZ13 CE054_HUMAN Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA. 200 p.I200I(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 attcttctacgatctctcttt 0.408000 50 3 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79384407 79384407 + Nonsense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:79384407C>T uc002sod.2 - 4 821 c.473G>A c.(472-474)tGg>tAg p.W158* REG3A_uc002soe.2_Nonsense_Mutation_p.W158*|REG3A_uc002sof.2_Nonsense_Mutation_p.W158* NM_138938 NP_620355 Q06141 REG3A_HUMAN Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA. 158 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.R157W(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ATAATCTTTCCACCTCAGAAA 0.458000 39 12 0 0 1 0 0 OR51A2 401667 broad.mit.edu 37 11 4976794 4976794 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:4976794G>A uc010qyt.2 - 0 150 c.150C>T c.(148-150)atC>atT p.I50I NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTCTTGATGATAAAAAGAA 0.443000 17 13 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137485337 137485338 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:137485337_137485338GG>AA uc003lcf.1 - 22 3324_3325 c.3269_3270CC>TT c.(3268-3270)tcc>tTT p.S1090F NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA. 1090 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ACAGCTTTGAGGAGGTAGCATG 0.411000 23 15 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166145 140166145 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140166145C>T uc003lhb.2 + 0 270 c.270C>T c.(268-270)atC>atT p.I90I PCDHAC2_uc003lha.2_Silent_p.I90I|PCDHAC2_uc003lgz.3_Silent_p.I90I NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 105 Cadherin 1. 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) ATTCTCGGATCGATCGCGAGG 0.577000 116 33 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183474319 183474319 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:183474319C>T uc003fly.2 + 11 1589 c.1394C>T c.(1393-1395)tCc>tTc p.S465F NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 465 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAATAAGGTTCCCCAATATCA 0.448000 57 74 0 0 1 0 0 CLDN3 1365 broad.mit.edu 37 7 73184018 73184019 + Missense_Mutation DNP CC GT GT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:73184018_73184019CC>GT uc003tzg.4 - 0 582_583 c.361_362GG>AC c.(361-363)ggc>ACc p.G121T NM_001306 NP_001297 O15551 CLD3_HUMAN Homo sapiens claudin 3 (CLDN3), mRNA. 121 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) GAACAGCACGCCTGCCACGATG 0.673000 25 24 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038181 75038181 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:75038181C>T uc001dgg.3 - 13 3432 c.3213G>A c.(3211-3213)agG>agA p.R1071R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1071 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 AGTCAGTTTTCCTCAGAGATG 0.408000 81 65 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19924175 19924175 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:19924175G>A uc003cbl.4 - 11 2391 c.2195C>T c.(2194-2196)cCc>cTc p.P732L EFHB_uc003cbm.3_Missense_Mutation_p.P602L NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 732 signal transduction proteinaceous extracellular matrix calcium ion binding p.R731Q(1) breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ACGAATTCGGGGAGCAGGAAT 0.418000 12 19 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89653814 89653814 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:89653814C>T uc001kfb.3 + 1 1144 c.112C>T c.(112-114)Cct>Tct p.P38S PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 38 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.P38S(11)|p.?(8)|p.Y27fs*1(2)|p.F37S(2)|p.Y27_N212>Y(2)|p.P38R(1)|p.P38L(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATGGGATTTCCTGCAGAAAG 0.284000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 32 14 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189859478 189859478 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:189859478G>A uc002uqj.1 + 19 1493 c.1376G>A c.(1375-1377)gGa>gAa p.G459E MIR3606_uc021vtx.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 459 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTGTTCCAGGAGCTAAAGGC 0.433000 54 43 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81589138 81589138 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:81589138G>A uc003uhr.1 - 36 3230 c.2974C>T c.(2974-2976)Cat>Tat p.H992Y CACNA2D1_uc011kgy.1_Missense_Mutation_p.H204Y NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 1004 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTTCTCCATGAAAGATTCTG 0.333000 20 5 0 0 1 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 66813 66813 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrGL000209.1:66813C>T uc002qud.4 + 4 929 c.856C>T c.(856-858)Cgc>Tgc p.R286C KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.R259C|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.R303C|KIR2DL2_uc002quc.4_Missense_Mutation_p.R264C|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Intron|KIR2DL2_uc010evf.3_Non-coding_Transcript NM_002255 NP_002246 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA. 266 regulation of immune response integral to membrane|plasma membrane receptor activity TCTCCTTCATCGCTGGTGCTC 0.527000 24 8 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860507 13860507 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:13860507G>A uc003bye.1 - 3 1289 c.984C>T c.(982-984)ttC>ttT p.F328F NM_004625 NP_004616 O00755 WNT7A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA. 328 Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 AGCACCAGTGGAACTTACAGT 0.617000 58 4 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503257 140503257 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140503257C>T uc003lip.1 + 0 1677 c.1677C>T c.(1675-1677)ttC>ttT p.F559F NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 559 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) ACTCGCCCTTCGTGCTGTACC 0.701000 86 60 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56581467 56581467 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:56581467G>A uc002iwj.2 - 13 1710 c.1600C>T c.(1600-1602)Ctt>Ttt p.L534F NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 534 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCAGCTCGAAGGAGCGCCCAC 0.512000 132 30 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30011131 30011131 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:30011131C>T uc001zcr.3 - 20 3690 c.3215G>A c.(3214-3216)cGa>cAa p.R1072Q TJP1_uc010azl.3_Missense_Mutation_p.R1060Q|TJP1_uc001zcq.3_Missense_Mutation_p.R996Q|TJP1_uc001zcs.3_Missense_Mutation_p.R992Q NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 1072 cell-cell junction assembly|cellular component disassembly involved in apoptosis Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction p.R1072R(1)|p.S1071F(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TTCATAGTTTCGAGAAAACTG 0.488000 149 31 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7721773 7721773 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7721773G>A uc002giu.1 + 67 10545 c.10531G>A c.(10531-10533)Gaa>Aaa p.E3511K DNAH2_uc010cnm.1_Missense_Mutation_p.E449K NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3511 AAA 5 (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) TGCTGTTAAAGAACAGGTGGG 0.502000 176 53 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139180146 139180146 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:139180146G>A uc003yuy.3 - 11 1421 c.1250C>T c.(1249-1251)cCt>cTt p.P417L FAM135B_uc003yux.3_Missense_Mutation_p.P318L|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 417 p.P417L(3)|p.P417S(1) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCTGTCGCAGGGCAGTCCAC 0.507000 HNSCC(54;0.14) 59 110 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50388291 50388291 + Splice_Site SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:50388291C>T uc001rvt.2 - 13 1355 c.1045_splice c.e13-1 p.G349_splice RACGAP1_uc009zlm.1_Splice_Site_p.G349_splice|RACGAP1_uc001rvs.2_Splice_Site_p.G349_splice|RACGAP1_uc001rvu.2_Splice_Site_p.G349_splice NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA. 349 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TGCCAGCATTCCCTGGAAAAA 0.413000 35 20 0 0 1 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413710 22413710 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:22413710G>A uc001yuf.3 + 0 249 c.9G>A c.(7-9)gtG>gtA p.V3V abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. AGATGTTGGTGGACTTCCTCT 0.517000 277 16 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16251661 16251661 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:16251661G>A uc002den.4 - 26 3778 c.3741C>T c.(3739-3741)ccC>ccT p.P1247P 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. 1247 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) GCAGCCTCCAGGGAGCCTGGA 0.597000 30 19 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307693 140307693 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140307693G>A uc003lih.2 + 0 1392 c.1216G>A c.(1216-1218)Gag>Aag p.E406K 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_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E406K NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 430 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) CCTGGACCGGGAGCAGATCAG 0.532000 44 9 0 0 1 0 0 LOC344967 344967 broad.mit.edu 37 4 40045585 40045585 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:40045585G>A uc011byr.1 - 2 565 c.71C>T c.(70-72)gCc>gTc p.A24V Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA. AGCCAGAGCGGCCACACAGCG 0.622000 7 10 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903989 11903989 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:11903989C>T uc002wnz.3 + 3 1603 c.1244C>T c.(1243-1245)tCc>tTc p.S415F BTBD3_uc002wny.3_Missense_Mutation_p.S354F|BTBD3_uc002woa.3_Missense_Mutation_p.S354F|BTBD3_uc010zrf.2_Missense_Mutation_p.S264F|BTBD3_uc010zrg.2_Missense_Mutation_p.S264F|BTBD3_uc010zrh.2_Missense_Mutation_p.S264F NM_014962 NP_852108 Q9Y2F9 BTBD3_HUMAN Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA. 415 p.S415C(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 CTGTATGGCTCCAGCTGTGGT 0.517000 81 12 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132556461 132556461 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:132556461C>T uc003kyn.1 - 11 1655 c.1437G>A c.(1435-1437)acG>acA p.T479T FSTL4_uc003kym.1_Silent_p.T128T NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN Homo sapiens follistatin-like 4 (FSTL4), mRNA. 479 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) AAATCTTTTCCGTGGGTTTGA 0.478000 44 32 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135423 156135423 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:156135423C>T uc003ioq.3 + 1 821 c.332C>T c.(331-333)aCc>aTc p.T111I NPY2R_uc003ior.3_Missense_Mutation_p.T111I|NPY2R_uc021xtm.1_Missense_Mutation_p.T111I NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 111 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) CTTACCTATACCTTAATGGGG 0.488000 46 8 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22712403 22712403 + RNA SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:22712403G>A uc021wml.1 + 43 c.4814G>A Parts of antibodies, mostly variable regions. TCCAACATCGGAAGTAATTAT 0.577000 141 179 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327224 150327224 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:150327224C>T uc022apv.1 - 1 487 c.7G>A c.(7-9)Gaa>Aaa p.E3K GIMAP6_uc003whn.3_Missense_Mutation_p.E3K|GIMAP6_uc003whm.3_Missense_Mutation_p.E3K NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 3 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TATTCTTCTTCCTCCATCTAC 0.428000 70 47 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25674775 25674775 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:25674775C>T uc003grr.3 + 9 1196 c.1115C>T c.(1114-1116)tCc>tTc p.S372F SLC34A2_uc003grs.3_Missense_Mutation_p.S371F|SLC34A2_uc010iev.3_Missense_Mutation_p.S371F NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 372 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CTCATACTCTCCCTGCTGGTC 0.517000 T ROS1 NSCLC 85 10 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8564419 8564419 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:8564419G>A uc002mkd.3 - 1 336 c.273C>T c.(271-273)ctC>ctT p.L91L NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 139 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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 GCTTCTTGGGGAGGTCAGTGA 0.662000 227 8 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134050865 134050865 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:134050865G>A uc011ljd.2 - 6 933 c.855C>T c.(853-855)acC>acT p.T285T TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Silent_p.T245T|SLA_uc011lje.2_Silent_p.T262T|SLA_uc011ljf.2_Silent_p.T137T|SLA_uc011ljg.2_Silent_p.T218T NM_006748 NP_006739 Q13239 SLAP1_HUMAN Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA. 245 endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) GATCAAAGGAGGTGTTGTCCT 0.498000 162 15 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18305764 18305764 + Nonsense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:18305764C>A uc002zng.4 - 22 3609 c.3256G>T c.(3256-3258)Gag>Tag p.E1086* MICAL3_uc011agl.2_Intron NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1086 Glu-rich. 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) TCTGCTGCCTCCCCTTCTATC 0.572000 73 8 1.12685e-05 1.13478e-05 1 1 0 PRAM1 84106 broad.mit.edu 37 19 8564383 8564383 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:8564383G>A uc002mkd.3 - 1 372 c.309C>T c.(307-309)ctC>ctT p.L103L NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 151 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|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 GCTTCTTGGGGAGGTCAGTGA 0.662000 226 6 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20793104 20793104 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:20793104C>T uc010kuh.3 + 26 3788 c.3551C>T c.(3550-3552)tCa>tTa p.S1184L ABCB5_uc003suw.4_Missense_Mutation_p.S739L NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 739 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 GAGGCCACTTCAGCCCTCGAT 0.398000 39 31 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17409101 17409101 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:17409101G>A uc001baf.3 - 9 1179 c.1097C>T c.(1096-1098)cCc>cTc p.P366L PADI2_uc010ocm.2_Missense_Mutation_p.P250L|PADI2_uc001bag.1_Missense_Mutation_p.P366L NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 366 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CAGCACCACGGGGAAGCCTTT 0.547000 46 23 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41691554 41691554 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:41691554G>A uc003gvz.4 + 29 4594 c.4177G>A c.(4177-4179)Gga>Aga p.G1393R LIMCH1_uc003gwe.4_Missense_Mutation_p.G906R|LIMCH1_uc003gvu.4_Missense_Mutation_p.G1009R|LIMCH1_uc003gvv.4_Missense_Mutation_p.G983R|LIMCH1_uc003gvw.4_Missense_Mutation_p.G982R|LIMCH1_uc003gvx.4_Missense_Mutation_p.G995R|LIMCH1_uc003gvy.4_Missense_Mutation_p.G811R|LIMCH1_uc003gwa.4_Missense_Mutation_p.G823R|LIMCH1_uc011byu.2_Missense_Mutation_p.G842R|LIMCH1_uc003gwc.4_Missense_Mutation_p.G828R|LIMCH1_uc003gwd.4_Missense_Mutation_p.G816R|LIMCH1_uc011byv.2_Missense_Mutation_p.G759R|LIMCH1_uc011byw.2_Missense_Mutation_p.G282R NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 1009 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GTCTATAAGTGGAAAGAAGCT 0.383000 10 28 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16328252 16328252 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:16328252G>A uc003nbt.3 - 7 1261 c.290C>T c.(289-291)cCc>cTc p.P97L ATXN1_uc010jpi.3_Missense_Mutation_p.P97L|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 97 RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGTGGCCACGGGGACAGACCT 0.642000 122 74 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364696 29364696 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:29364696G>A uc003nmf.4 + 0 281 c.220G>A c.(220-222)Gtg>Atg p.V74M NM_013936 NP_039224 P58182 O12D2_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA. 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V74L(2)|p.T73T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TTACTCTACGGTGACACTGCC 0.458000 52 46 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4600388 4600388 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:4600388G>A uc001qms.3 - 11 1541 c.1453C>T c.(1453-1455)Ccc>Tcc p.P485S C12orf4_uc001qmt.3_Missense_Mutation_p.P485S NM_020374 NP_065107 Q9NQ89 CL004_HUMAN Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA. 485 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) AAGCACCAGGGTATAGTCATT 0.348000 71 23 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766249 43766249 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:43766249G>A uc002owd.4 - 2 571 c.472C>T c.(472-474)Ccc>Tcc p.P158S PSG9_uc002owe.4_Missense_Mutation_p.P158S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P158S NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 158 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCCTCCCTGGGGTTTAAGTTG 0.532000 236 73 0 0 1 0 0 ISG20 3669 broad.mit.edu 37 15 89195471 89195471 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:89195471C>T uc002bmv.1 + 2 652 c.359C>T c.(358-360)gCc>gTc p.A120V ISG20_uc002bmu.1_Non-coding_Transcript|ISG20_uc010upn.1_Non-coding_Transcript NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN Homo sapiens interferon stimulated exonuclease gene 20kDa (ISG20), mRNA. 120 DNA catabolic process, exonucleolytic|RNA catabolic process|cell proliferation|response to virus|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|RNA binding|exoribonuclease II activity|metal ion binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity large_intestine(1)|lung(3)|prostate(1) 5 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) TGGCGTGAGGCCAAGCTGGAC 0.592000 67 17 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180372594 180372594 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:180372594C>T uc010hxe.3 - 6 1001 c.886G>A c.(886-888)Gca>Aca p.A296T CCDC39_uc003fkn.3_Non-coding_Transcript NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA. 296 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCCTGATATGCCGTTCTACAT 0.348000 19 11 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80669111 80669111 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:80669111G>A uc021rxa.1 - 2 904 c.851C>T c.(850-852)tCc>tTc p.S284F DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.S248F|DIO2_uc010asy.3_Missense_Mutation_p.S248F NM_001007023 Q92813 IOD2_HUMAN Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA. 248 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) AAGGTTGTAGGAGAAGGGGCC 0.438000 24 14 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136570323 136570323 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:136570323C>T uc002tuu.1 - 6 1922 c.1911G>A c.(1909-1911)gtG>gtA p.V637V NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 637 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) AGTCTCCATCCACAAAGACGG 0.582000 100 31 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544950 82544950 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:82544950G>A uc003uhx.2 - 6 12641 c.12352C>T c.(12352-12354)Cct>Tct p.P4118S PCLO_uc003uhv.2_Missense_Mutation_p.P4118S|PCLO_uc010lec.3_Missense_Mutation_p.P1083S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4049 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 AACTCGTAAGGATCCTCCATT 0.443000 40 28 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22324726 22324726 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:22324726G>A uc002zvs.3 - 5 872 c.437C>T c.(436-438)aCc>aTc p.T146I TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Missense_Mutation_p.T146I|TOP3B_uc010gtl.3_Missense_Mutation_p.T146I NM_003935 NP_003926 O95985 TOP3B_HUMAN Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA. 146 Toprim. DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CCGGAACACGGTCTTCTCGCC 0.607000 30 29 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99515323 99515323 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:99515323G>A uc001vnt.2 - 31 3587 c.3532C>T c.(3532-3534)Cag>Tag p.Q1178* DOCK9_uc001vnw.2_Nonsense_Mutation_p.Q1177*|DOCK9_uc021rlw.1_Nonsense_Mutation_p.Q1177*|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Nonsense_Mutation_p.Q1178*|DOCK9_uc010tis.1_Nonsense_Mutation_p.Q1177*|DOCK9_uc010tit.1_Nonsense_Mutation_p.Q1178*|DOCK9_uc010tiq.1_Nonsense_Mutation_p.Q156*|DOCK9_uc010afu.1_Nonsense_Mutation_p.Q1024* NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 1178 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTGATCCGCTGGACGTTTTCA 0.517000 5 9 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457437 159457437 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:159457437G>A uc003qrz.3 - 9 1950 c.1618C>T c.(1618-1620)Ccg>Tcg p.P540S TAGAP_uc011eft.2_Missense_Mutation_p.P477S|TAGAP_uc003qsa.3_Missense_Mutation_p.P362S NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 540 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity 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) ACACCCCTCGGGACGTGGTCC 0.562000 43 36 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 373472 373472 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:373472G>A uc002lol.3 - 3 606 c.563C>T c.(562-564)cCc>cTc p.P188L THEG_uc002lom.3_Missense_Mutation_p.P164L NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA. 188 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCTACCGGGCACTGTGAT 0.667000 31 16 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19634765 19634765 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:19634765G>A uc002wrl.3 + 6 869 c.672G>A c.(670-672)gtG>gtA p.V224V NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 224 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CGCTGTCTGTGATCGCGCTCA 0.517000 64 25 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16855866 16855866 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:16855866C>T uc002gqs.1 - 1 106 c.93G>A c.(91-93)atG>atA p.M31I TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron NM_012452 NP_036584 O14836 TR13B_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA. 31 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity p.M31I(2) endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 GGCAGGATCTCATAGCCACCC 0.617000 IgA Deficiency, Selective 37 29 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31562485 31562485 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:31562485G>A uc002rnv.1 - 33 3723 c.3644C>T c.(3643-3645)tCc>tTc p.S1215F NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1215 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) CCCCTCGGGGGAATAGTGTAG 0.602000 39 36 0 0 1 0 0 TTLL7 79739 broad.mit.edu 37 1 84412889 84412889 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:84412889G>A uc001djc.3 - 5 820 c.424C>T c.(424-426)Caa>Taa p.Q142* TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 142 TTL. 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) ACATAATTTTGGAATTGAGTA 0.358000 34 4 0 0 1 0 0 SAT2 112483 broad.mit.edu 37 17 7530945 7530945 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7530945G>A uc002gic.2 - 0 250 c.9C>T c.(7-9)tcC>tcT p.S3S SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank NM_133491 NP_597998 Q96F10 SAT2_HUMAN Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA. 3 cytoplasm diamine N-acetyltransferase activity p.?(1) kidney(1)|large_intestine(2) 3 READ - Rectum adenocarcinoma(115;0.166) Spermine(DB00127) GGATCCGCACGGAAGCCATCC 0.622000 33 32 0 0 1 0 0 LCE3E 353145 broad.mit.edu 37 1 152538467 152538467 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:152538467C>T uc021oyz.1 - 0 218 c.218G>A c.(217-219)aGg>aAg p.R73K LCE3E_uc001faa.3_Missense_Mutation_p.R73K NM_178435 NP_848522 Q5T5B0 LCE3E_HUMAN Homo sapiens late cornified envelope 3E (LCE3E), mRNA. 73 keratinization lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) ACCACTGCCCCTGTCACAGGA 0.652000 225 32 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714720 92714720 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:92714720G>A uc001pdk.1 + 1 434 c.331G>A c.(331-333)Gag>Aag p.E111K NM_005959 NP_005950 P49286 MTR1B_HUMAN Homo sapiens melatonin receptor 1B (MTNR1B), mRNA. 111 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCTGGGGGAGGAGCACTGCAA 0.582000 61 73 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38743382 38743382 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:38743382G>A uc003ciq.3 - 25 4605 c.4605C>T c.(4603-4605)ttC>ttT p.F1535F NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1535 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) AGCCATTTGTGAAGTAGTACT 0.488000 30 31 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47765657 47765657 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:47765657G>A uc001crd.1 - 5 776 c.621C>T c.(619-621)atC>atT p.I207I TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Intron|STIL_uc010omo.1_Silent_p.I207I|STIL_uc001crc.1_Silent_p.I207I|STIL_uc001cre.1_Silent_p.I207I|STIL_uc001crg.1_Intron NM_001048166 NP_001041631 Q15468 STIL_HUMAN Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA. 207 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GAATAATGGGGATGGGCTTCA 0.388000 56 18 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015708 21015708 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:21015708G>A uc010sil.2 + 5 712 c.647G>A c.(646-648)gGa>gAa p.G216E SLCO1B3_uc001rek.3_Missense_Mutation_p.G216E|SLCO1B3_uc001rel.3_Missense_Mutation_p.G216E|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 216 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AATGCAATAGGAATGATTGGT 0.318000 52 16 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36218285 36218285 + Silent SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:36218285A>G uc010mlh.3 - 10 2049 c.1828T>C c.(1828-1830)Ttg>Ctg p.L610L GNE_uc010mlg.3_Silent_p.L536L|GNE_uc011lpl.2_Silent_p.L500L|GNE_uc010mli.3_Silent_p.L641L|GNE_uc010mlj.3_Silent_p.L605L NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA. 610 N-acetylmannosamine kinase. N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CCTTCCACCAAGAGCAGGTCC 0.547000 72 22 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31901648 31901648 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:31901648C>T uc003nyc.2 + 2 337 c.116C>T c.(115-117)cCt>cTt p.P39L CFB_uc011doo.2_Intron|CFB_uc011dop.2_Silent_p.P84P|CFB_uc003nye.4_Silent_p.P207P|CFB_uc003nyf.3_Silent_p.P207P|CFB_uc010jtk.3_Silent_p.P75P|CFB_uc011doq.2_Silent_p.P178P|CFB_uc011dor.2_Silent_p.P145P P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 2, mRNA. 0 Sushi 1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCACAGAACCCTACTCTTATG 0.632000 55 44 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685886 125685886 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:125685886C>T uc022cds.1 - 0 706 c.706G>A c.(706-708)Gag>Aag p.E236K DCAF12L1_uc004eul.3_Missense_Mutation_p.E236K NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 236 p.E236*(2)|p.S235C(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGACCCACCTCGCTATGCCAG 0.652000 27 32 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 63 37 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755472 79755472 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:79755472C>T uc002bew.1 + 2 2437 c.2362C>T c.(2362-2364)Ctg>Ttg p.L788L KIAA1024_uc010unk.1_Silent_p.L788L NM_015206 NP_056021 Q9UPX6 K1024_HUMAN Homo sapiens KIAA1024 (KIAA1024), mRNA. 788 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 AGATGGCTTCCTGGTGGAGCA 0.607000 63 12 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143772241 143772241 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:143772241C>T uc011ktx.2 + 0 929 c.929C>T c.(928-930)tCa>tTa p.S310L NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) AAGAGAACTTCATGAAAGCCT 0.398000 171 88 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3045437 3045437 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:3045437G>A uc022aqr.1 - 35 5964 c.5574C>T c.(5572-5574)atC>atT p.I1858I CSMD1_uc011kwj.2_Silent_p.I1251I|CSMD1_uc003wqe.3_Silent_p.I1015I|CSMD1_uc010lrg.3_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1859 CUB 11. 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) CACCATCGTGGATCTCAAGGG 0.448000 22 4 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10451190 10451190 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10451190G>A uc010coi.3 - 2 176 c.48C>T c.(46-48)ttC>ttT p.F16F AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F16F|MYH2_uc010coj.3_Silent_p.F16F NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 16 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 ACTTTCGGAGGAAAGGAGCAG 0.478000 43 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9014639 9014639 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9014639C>T uc002mkp.3 - 30 38540 c.38336G>A c.(38335-38337)aGc>aAc p.S12779N MUC16_uc021uog.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12781 SEA 5. 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 CACTCCAGGGCTTTTGGGGTC 0.557000 81 39 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117303092 117303092 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:117303092G>A uc001egu.4 + 2 480 c.451G>A c.(451-453)Gga>Aga p.G151R CD2_uc010owz.1_Missense_Mutation_p.G151R|CD2_uc010oxa.1_Intron NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 151 Ig-like C2-type. T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) GGTAATGAATGGAACTGACCC 0.408000 42 29 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46136371 46136371 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:46136371C>T uc003bgm.2 + 8 1392 c.1126C>T c.(1126-1128)Cgt>Tgt p.R376C ATXN10_uc011aqt.2_Missense_Mutation_p.R312C|ATXN10_uc003bgn.2_Missense_Mutation_p.R187C NM_013236 NP_037368 Q9UBB4 ATX10_HUMAN Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA. 376 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) TCATCTCATTCGTCTGATTGG 0.368000 97 25 0 0 1 0 0 IFNA5 3442 broad.mit.edu 37 9 21305245 21305245 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:21305245G>A uc011lnh.2 - 0 68 c.11C>T c.(10-12)cCc>cTc p.P4L NM_002169 NP_002160 P01569 IFNA5_HUMAN Homo sapiens interferon, alpha 5 (IFNA5), mRNA. 4 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TAAAACAAAGGGCAAGGCCAT 0.522000 20 62 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30681833 30681833 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:30681833G>A uc003ahi.3 - 11 1431 c.1314C>T c.(1312-1314)ttC>ttT p.F438F TBC1D10A_uc003ahd.3_Silent_p.F303F|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA. 0 intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GGGCGTGGTCGAAGTTGAAGG 0.607000 12 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068007 9068007 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9068007C>T uc002mkp.3 - 2 19643 c.19439G>A c.(19438-19440)gGa>gAa p.G6480E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6482 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 TTGTGAAAATCCATGAGTCAT 0.493000 68 43 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131548 35131548 + Silent SNP G A A rs144021252 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:35131548G>A uc003teq.1 - 19 2145 c.1038C>T c.(1036-1038)ttC>ttT p.F346F DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA. TGGCACCTGCGAAGACAGCAT 0.388000 47 3 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81295790 81295790 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:81295790C>T uc002fgn.1 + 3 591 c.373C>T c.(373-375)Ctg>Ttg p.L125L BCMO1_uc002fgm.1_Silent_p.L125L|BCMO1_uc010vnp.1_Silent_p.L56L NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 125 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 CGACAACTGCCTGATCAACAT 0.498000 118 52 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55992908 55992909 + Silent DNP CC TT TT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:55992908_55992909CC>TT uc021vbv.1 + 0 336_337 c.336_337CC>TT c.(334-339)ggcctg>ggTTtg p.112_113GL>GL ZNF628_uc002qld.2_Silent_p.112_113GL>GL NM_033113 NP_149104 Q5EBL2 ZN628_HUMAN Homo sapiens zinc finger protein 628 (ZNF628), mRNA. 112 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) TGCACACCGGCCTGCGGGCCTT 0.668000 34 5 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208331 53208331 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:53208331G>A uc002pzz.3 - 6 2294 c.1977C>T c.(1975-1977)ttC>ttT p.F659F ZNF611_uc010eqc.3_Silent_p.F589F|ZNF611_uc010ydo.2_Silent_p.F589F|ZNF611_uc010ydp.2_Silent_p.F659F|ZNF611_uc010ydq.2_Silent_p.F659F|ZNF611_uc010ydr.2_Silent_p.F590F|ZNF611_uc002qaa.4_Silent_p.F589F|ZNF611_uc021uyy.1_Silent_p.F590F NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AATTACGCACGAAAGCCTTGT 0.408000 94 50 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116599764 116599764 + Missense_Mutation SNP C G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:116599764C>G uc003yny.3 - 4 2742 c.2164G>C c.(2164-2166)Gag>Cag p.E722Q TRPS1_uc011lhy.2_Missense_Mutation_p.E713Q|TRPS1_uc003ynz.3_Missense_Mutation_p.E709Q|TRPS1_uc010mcy.3_Missense_Mutation_p.E709Q NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA. 709 Mediates interaction with GLI3. NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTGAAGTGCTCCAGTAGTGAC 0.493000 Langer-Giedion syndrome 73 125 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113816709 113816709 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:113816709C>T uc001pok.3 + 8 1314 c.1176C>T c.(1174-1176)ctC>ctT p.L392L HTR3B_uc001pol.3_Silent_p.L381L NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 392 HA-stretch. synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GCAACTACCTCCAAACTCAGG 0.557000 23 26 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511156 61511156 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:61511156G>A uc002ydr.2 - 15 6464 c.6152C>T c.(6151-6153)tCc>tTc p.S2051F DIDO1_uc002yds.2_Missense_Mutation_p.S2051F NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 2051 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) CGCACTGGAGGAGAGCGCGGA 0.701000 120 144 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38119752 38119752 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:38119752C>T uc003gtb.3 + 16 3259 c.2901C>T c.(2899-2901)gcC>gcT p.A967A TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Silent_p.A754A|TBC1D1_uc021xnh.1_Silent_p.A64A|TBC1D1_uc021xni.1_Silent_p.A64A|TBC1D1_uc003gtd.3_5'Flank NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 967 Rab-GAP TBC. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCTACGCTGCCCCCTGGTTCC 0.532000 187 56 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3477143 3477143 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:3477143G>A uc010vro.2 - 12 1953 c.1920C>T c.(1918-1920)aaC>aaT p.N640N TRPV1_uc010vrp.2_Silent_p.N569N|TRPV1_uc010vrq.2_Silent_p.N627N|TRPV1_uc010vrr.2_Silent_p.N629N|TRPV1_uc010vrs.2_Silent_p.N629N|TRPV1_uc010vrt.2_Silent_p.N629N|TRPV1_uc010vru.2_Silent_p.N629N NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA. 629 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) AGTACAGGCTGTTGTAGGAGC 0.582000 65 6 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77147264 77147264 + Missense_Mutation SNP C G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:77147264C>G uc011bgk.2 + 1 804 c.161C>G c.(160-162)gCg>gGg p.A54G ROBO2_uc021xat.1_Missense_Mutation_p.A70G|ROBO2_uc003dpy.4_Missense_Mutation_p.A54G|ROBO2_uc003dpz.3_Missense_Mutation_p.A54G|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 54 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AACTGCAAGGCGGAGGGCCGG 0.617000 44 9 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766122 43766122 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:43766122C>T uc002owd.4 - 2 698 c.599G>A c.(598-600)aGg>aAg p.R200K PSG9_uc002owe.4_Missense_Mutation_p.R200K|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.R200K NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 200 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) ATAGAGGGTCCTGTTGGTTTT 0.498000 315 108 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29598891 29598891 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:29598891G>A uc001usl.4 + 0 144 c.86G>A c.(85-87)aGa>aAa p.R29K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 19 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.R29I(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CGGGACAACAGAAATGCAGCA 0.458000 22 38 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539808 56539808 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:56539808C>T uc002qmj.3 + 6 2209 c.2209C>T c.(2209-2211)Cgg>Tgg p.R737W NLRP5_uc002qmi.3_Missense_Mutation_p.R718W NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 737 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCGGAAAATTCGGGTGGATGT 0.498000 127 66 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117727192 117727192 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:117727192C>T uc004eqp.2 + 19 2218 c.2155C>T c.(2155-2157)Ccc>Tcc p.P719S DOCK11_uc004eqq.2_Missense_Mutation_p.P485S NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 719 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AATTGAGCTTCCCATTCACCT 0.338000 31 30 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973907 128973907 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:128973907C>T uc001lju.1 - 0 794 c.753G>A c.(751-753)acG>acA p.T251T DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.T251T|FAM196A_uc001ljv.1_Silent_p.T251T|FAM196A_uc009yap.1_Silent_p.T251T NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA. 251 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGGCAACCTCCGTTTTAAACA 0.657000 13 14 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92139226 92139226 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:92139226G>A uc001xzs.1 - 12 1253 c.1113C>T c.(1111-1113)taC>taT p.Y371Y CATSPERB_uc010aub.1_5'Flank NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 371 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) TATAGAAGAGGTAAACTCCAG 0.348000 50 50 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8331706 8331706 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:8331706G>A uc003zkk.3 - 43 6153 c.5410C>T c.(5410-5412)Cag>Tag p.Q1804* PTPRD_uc003zkp.3_Nonsense_Mutation_p.Q1398*|PTPRD_uc003zkq.3_Nonsense_Mutation_p.Q1397*|PTPRD_uc003zkr.3_Nonsense_Mutation_p.Q1388*|PTPRD_uc003zks.3_Nonsense_Mutation_p.Q1397*|PTPRD_uc022bdj.1_Nonsense_Mutation_p.Q1394* NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1804 Tyrosine-protein phosphatase 2. 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) TCAGTGAACTGGAACTGCCTT 0.512000 TSP Lung(15;0.13) 28 44 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343937 248343937 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248343937C>T uc010pzf.2 + 0 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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;0.0245) ATCATTGCTTCCTATGCTCGA 0.433000 214 31 0 0 1 0 0 IFNA16 3449 broad.mit.edu 37 9 21217208 21217208 + Missense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:21217208C>A uc003zor.1 - 0 103 c.97G>T c.(97-99)Ggt>Tgt p.G33C IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 33 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.G33C(2) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CTCCTATTACCCAGGCTGTGA 0.512000 141 33 3.67414e-24 3.78516e-24 1 1 0 OR2T10 127069 broad.mit.edu 37 1 248756631 248756631 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248756631C>T uc010pzn.2 - 0 439 c.439G>A c.(439-441)Ggc>Agc p.G147S NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA. 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACCAGCAGCCTGATGCCAGG 0.547000 75 113 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163051225 163051225 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:163051225C>T uc002ucd.3 - 16 1644 c.1436G>A c.(1435-1437)gGa>gAa p.G479E FAP_uc010fpc.3_Missense_Mutation_p.G28E|FAP_uc010zct.2_Missense_Mutation_p.G454E NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 479 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ATCAGTGCGTCCATCATGAAG 0.448000 44 27 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30128290 30128290 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:30128290G>A uc002dws.3 - 6 1042 c.942C>T c.(940-942)aaC>aaT p.N314N BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.N200N|MAPK3_uc002dwv.4_Silent_p.N270N|MAPK3_uc002dwt.3_Silent_p.N314N NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 314 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding 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|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GTTTATTGGGGTTAAAGGTTA 0.582000 143 60 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61615955 61615955 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:61615955C>T uc002jay.3 + 7 1966 c.1886C>T c.(1885-1887)tCc>tTc p.S629F KCNH6_uc010wpl.2_Missense_Mutation_p.S506F|KCNH6_uc010wpm.2_Missense_Mutation_p.S629F|KCNH6_uc002jaz.1_Missense_Mutation_p.S576F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 629 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) GACGTGCTCTCCACCCTCTAC 0.682000 22 20 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88968026 88968026 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:88968026C>T uc002fmm.2 - 1 479 c.190G>A c.(190-192)Gac>Aac p.D64N CBFA2T3_uc002fml.2_Missense_Mutation_p.D3N|CBFA2T3_uc010cif.1_Missense_Mutation_p.D3N|CBFA2T3_uc002fmn.2_Missense_Mutation_p.D64N NM_005187 NP_005178 O75081 MTG16_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA. 64 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCTGGGGAGTCCGGCATCGCT 0.682000 T RUNX1 AML 49 18 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947896 40947897 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40947896_40947897GG>AA uc002ibj.3 + 15 3344_3345 c.3276_3277GG>AA c.(3274-3279)aaggaa>aaAAaa p.E1093K WNK4_uc010wgx.2_Missense_Mutation_p.E757K|CCDC56_uc010wgz.1_Missense_Mutation_p.P121F|CNTD1_uc002ibm.4_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 1093 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) ATGATGGGAAGGAACCCCAAGT 0.624000 49 16 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:152327955G>A uc001ezw.4 - 2 2380 c.2307C>T c.(2305-2307)agC>agT p.S769S AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(2) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517000 668 9 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573519 140573519 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140573519G>A uc003lix.3 + 0 1568 c.1394G>A c.(1393-1395)aGc>aAc p.S465N NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 465 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAACAACAGCCCCGCCCTG 0.632000 156 94 0 0 1 0 0 RBM24 221662 broad.mit.edu 37 6 17292009 17292009 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:17292009C>T uc003nbz.4 + 3 374 c.370C>T c.(370-372)Ccg>Tcg p.P124S RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_Missense_Mutation_p.P66S|RBM24_uc003nca.3_Missense_Mutation_p.P79S|RBM24_uc011diy.2_Silent_p.I37I|RBM24_uc011diz.2_Silent_p.I22I NM_001143942 NP_001137413 Q9BX46 RBM24_HUMAN Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA. 124 cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding p.A123T(1) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CTATGTCTATCCGCAGGCTTT 0.502000 140 144 0 0 1 0 0 CHRNA5 1138 broad.mit.edu 37 15 78882151 78882151 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:78882151G>A uc002bdy.3 + 4 618 c.418G>A c.(418-420)Gat>Aat p.D140N NM_000745 NP_000736 P30532 ACHA5_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA. 140 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 TTTTAGTGCAGATGGACGTTT 0.373000 27 18 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45739290 45739290 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:45739290C>T uc002zek.3 + 13 1661 c.1260C>T c.(1258-1260)ctC>ctT p.L420L PFKL_uc002zel.3_Silent_p.L373L|PFKL_uc002zem.3_5'UTR|PFKL_uc002zen.3_5'UTR P17858 K6PL_HUMAN Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA. 373 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) CCACCCAGCTCCGTGGTGGGT 0.592000 95 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074858 9074858 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9074858C>T uc002mkp.3 - 2 12792 c.12588G>A c.(12586-12588)gaG>gaA p.E4196E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4198 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 GGCCAGAGGTCTCAGACAAGA 0.498000 33 18 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104915214 104915214 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:104915214G>A uc001pip.1 - 1 206 c.179C>T c.(178-180)tCc>tTc p.S60F CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Missense_Mutation_p.S60F NM_001017534 NP_001017534 P29466 CASP1_HUMAN Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA. 60 CARD. cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) CGGAATAACGGAGTCAATCAA 0.448000 90 88 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242755721 242755721 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:242755721G>A uc002wcp.2 + 1 573 c.79G>A c.(79-81)Gag>Aag p.E27K NEU4_uc010fzr.3_Missense_Mutation_p.E14K|NEU4_uc002wcm.3_Missense_Mutation_p.E14K|NEU4_uc002wco.2_Missense_Mutation_p.E14K|NEU4_uc002wcn.2_Missense_Mutation_p.E26K NM_001167599 NP_001161074 Q8WWR8 NEUR4_HUMAN Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA. 14 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) AGTGCTCTTCGAGCGGGAGAG 0.692000 73 31 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538455 4538455 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:4538455G>A uc002mau.3 - 1 552 c.541C>T c.(541-543)Ccc>Tcc p.P181S PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA. 181 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGCCCGGGGGGCAGTTTC 0.622000 188 65 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172480255 172480255 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:172480255C>T uc003fii.2 + 7 853 c.715C>T c.(715-717)Cca>Tca p.P239S ECT2_uc010hwv.1_Missense_Mutation_p.P270S|ECT2_uc003fih.2_Missense_Mutation_p.P238S|ECT2_uc003fij.1_Missense_Mutation_p.P239S|ECT2_uc003fik.1_Missense_Mutation_p.P239S|ECT2_uc003fil.1_Missense_Mutation_p.P270S NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA. 239 BRCT 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TAAAGTTCCTCCATTTCAAGA 0.303000 22 20 0 0 1 0 0 STARD6 147323 broad.mit.edu 37 18 51855780 51855781 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:51855780_51855781GG>AA uc010xdt.2 - 4 415_416 c.415_416CC>TT c.(415-417)cca>TTa p.P139L NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 139 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) ATTTGAAGATGGAGGATATTCT 0.317000 58 86 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17669558 17669558 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:17669558C>T uc003ncd.1 - 6 1180 c.980G>A c.(979-981)aGa>aAa p.R327K NUP153_uc011dje.1_Missense_Mutation_p.R327K|NUP153_uc010jpl.1_Missense_Mutation_p.R327K NM_005124 NP_005115 P49790 NU153_HUMAN Homo sapiens nucleoporin 153kDa (NUP153), mRNA. 327 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding p.R327I(2) NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGATGGAATTCTTTTTGCATC 0.279000 57 37 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93264102 93264102 + Nonsense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:93264102C>A uc001yaz.1 + 1 502 c.320C>A c.(319-321)tCa>tAa p.S107* NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Homo sapiens golgin A5 (GOLGA5), mRNA. 107 Golgi organization cis-Golgi network|integral to membrane ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) CCTAGGCCTTCATCCCATTTT 0.458000 T RET papillary thyroid 34 28 1.16021e-09 1.17664e-09 1 1 0 KLHL24 54800 broad.mit.edu 37 3 183397024 183397024 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:183397024C>T uc003flv.3 + 7 2048 c.1753C>T c.(1753-1755)Cat>Tat p.H585Y KLHL24_uc003flw.3_Missense_Mutation_p.H585Y NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA. 585 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGTGTCCTATCATGGCTGTGT 0.453000 33 38 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683757 6683757 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:6683757G>A uc010vtg.2 + 1 690 c.570G>A c.(568-570)agG>agA p.R190R NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN Homo sapiens F-box protein 39 (FBXO39), mRNA. 190 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 GCTACATGAGGAATGAGAATG 0.493000 59 34 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442627 138442627 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:138442627C>T uc003ihe.4 - 3 3351 c.2964G>A c.(2962-2964)aaG>aaA p.K988K PCDH18_uc003ihf.4_Silent_p.K980K|PCDH18_uc011cgz.2_Silent_p.K199K|PCDH18_uc003ihg.4_Silent_p.K767K|PCDH18_uc011cha.2_Silent_p.K168K NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 988 Interaction with DAB1 (By similarity). 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) TTGGGGAGTCCTTTCCAAAGG 0.527000 69 7 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113238118 113238119 + Missense_Mutation DNP CC TT TT rs140221891 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:113238118_113238119CC>TT uc001eck.3 + 10 1971_1972 c.1701_1702CC>TT c.(1699-1704)ctccgg>ctTTgg p.R568W MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.R568W|MOV10_uc001ecm.3_Missense_Mutation_p.R508W|MOV10_uc009wgj.1_Missense_Mutation_p.R508W NM_001130079 NP_066014 Q9HCE1 MOV10_HUMAN Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA. 568 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|RNA binding|helicase activity|protein binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTCAAAGGCTCCGGGTCCACCT 0.594000 46 11 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16259588 16259588 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:16259588C>T uc001axk.1 + 10 7057 c.6853C>T c.(6853-6855)Cca>Tca p.P2285S SPEN_uc010obp.1_Missense_Mutation_p.P2244S NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 2285 Interaction with MSX2 (By similarity).|RID. Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TTCTAGGCCTCCAGTCAATGC 0.547000 94 63 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4968181 4968181 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:4968181G>A uc010qys.2 - 0 150 c.150C>T c.(148-150)atC>atT p.I50I NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTCTTGATGATAAAAAGAA 0.438000 36 14 0 0 1 0 0 CMTM4 146223 broad.mit.edu 37 16 66657376 66657376 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:66657376G>A uc002epz.3 - 2 575 c.393C>T c.(391-393)ttC>ttT p.F131F CMTM4_uc002eqa.3_Silent_p.F131F|CMTM4_uc021tjv.1_5'Flank NM_178818 NP_848933 Q8IZR5 CKLF4_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 4 (CMTM4), transcript variant 1, mRNA. 131 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) TAAAGAAAAGGAAAGCGCTGA 0.423000 30 10 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133494362 133494362 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:133494362G>A uc003epu.2 + 19 3501 c.1773G>A c.(1771-1773)gaG>gaA p.E591E TF_uc011blt.2_Silent_p.E464E|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.E591E NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 591 Transferrin-like 2. E -> Q (in Ref. 12; AA sequence). cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AACCTGTGGAGGAGTATGCGA 0.498000 215 25 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57059626 57059626 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:57059626C>T uc021tiu.1 + 4 898 c.771C>T c.(769-771)ttC>ttT p.F257F NLRC5_uc021tit.1_Silent_p.F257F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.F62F|NLRC5_uc021tiw.1_Silent_p.F62F|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 257 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) AGGCCCTGTTCCTTTTTGAAT 0.577000 102 48 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72943535 72943535 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:72943535G>A uc010wrr.2 + 5 1585 c.1585G>A c.(1585-1587)Gag>Aag p.E529K OTOP3_uc010wrq.2_Missense_Mutation_p.E511K NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN Homo sapiens otopetrin 3 (OTOP3), mRNA. 529 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GGCACTCAAGGAGATCTCACT 0.607000 38 17 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666434 30666434 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:30666434G>A uc002dyy.3 + 7 1401 c.1143G>A c.(1141-1143)cgG>cgA p.R381R PRR14_uc002dyz.3_Silent_p.R226R|PRR14_uc002dza.3_Silent_p.R381R|PRR14_uc002dzb.1_Silent_p.R195R NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN Homo sapiens proline rich 14 (PRR14), mRNA. 381 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CCTGTCTCCGGAAAGAGGTCT 0.662000 94 44 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96447945 96447945 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:96447945G>A uc001kjv.4 + 2 721 c.395G>A c.(394-396)cGg>cAg p.R132Q CYP2C19_uc001kjw.4_Missense_Mutation_p.R132Q|CYP2C19_uc009xus.1_5'UTR|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 132 R -> Q (in allele CYP2C19*6; loss of activity). exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ATGACTCTGCGGAATTTTGGG 0.498000 24 33 0 0 1 0 0 ZFP28 140612 broad.mit.edu 37 19 57065806 57065806 + Missense_Mutation SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57065806A>G uc002qnj.3 + 7 1723 c.1652A>G c.(1651-1653)cAt>cGt p.H551R BX647249_uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA. 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) CTTACTGTACATCAAAGGATT 0.393000 59 11 0 0 1 0 0 TMEM189-UBE2V1 387522 broad.mit.edu 37 20 48699376 48699376 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:48699376G>A uc002xva.3 - 3 418 c.373C>T c.(373-375)Cgg>Tgg p.R125W TMEM189-UBE2V1_uc002xvf.3_Missense_Mutation_p.R348W|TMEM189-UBE2V1_uc002xvb.3_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvc.3_Missense_Mutation_p.R81W|TMEM189-UBE2V1_uc002xvd.3_Missense_Mutation_p.R148W|TMEM189-UBE2V1_uc002xve.3_Missense_Mutation_p.R148W NM_001032288 NP_001027459 A5PLL7 TM189_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA. 0 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(4)|large_intestine(6)|lung(6) 17 BRCA - Breast invasive adenocarcinoma(9;8.29e-07) ATTAGGCGCCGAAGCTCTTGC 0.443000 124 24 0 0 1 0 0 TMEM70 54968 broad.mit.edu 37 8 74888620 74888620 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:74888620C>T uc003yab.3 + 0 244 c.104C>T c.(103-105)tCt>tTt p.S35F TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_Missense_Mutation_p.S35F NM_017866 NP_060336 Q9BUB7 TMM70_HUMAN Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 35 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) CCCCGGGCCTCTGTCTCCCGG 0.731000 10 32 0 0 1 0 0 FTSJD1 55783 broad.mit.edu 37 16 71318067 71318067 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:71318067G>A uc021tkr.1 - 0 1757 c.1757C>T c.(1756-1758)tCg>tTg p.S586L FTSJD1_uc010cga.3_Missense_Mutation_p.S586L|FTSJD1_uc002ezy.4_Missense_Mutation_p.S586L|FTSJD1_uc002ezz.4_Missense_Mutation_p.S586L NM_018348 NP_060818 Q8IYT2 FTSJ1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA. 586 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACGGAGAGTCGAAAAGCCCAC 0.433000 26 15 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36369836 36369836 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:36369836G>A uc002oce.3 + 14 1830 c.1692G>A c.(1690-1692)gaG>gaA p.E564E APLP1_uc010xsz.2_Silent_p.E525E|APLP1_uc002ocf.3_Silent_p.E565E|APLP1_uc002ocg.3_Silent_p.E468E|APLP1_uc010xta.2_Silent_p.E558E NM_005166 NP_005157 P51693 APLP1_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA. 564 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACTCATCGGAGATTCAGAGGG 0.582000 83 21 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013544 99013544 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:99013544G>A uc010fij.3 + 7 2064 c.1923G>A c.(1921-1923)ctG>ctA p.L641L CNGA3_uc002syt.3_Silent_p.L637L|CNGA3_uc002syu.3_Silent_p.L619L Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 637 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGTCCTCCCTGGACACCCTGC 0.597000 50 12 0 0 1 0 0 PAEP 5047 broad.mit.edu 37 9 138457324 138457324 + Missense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:138457324C>A uc004cge.1 + 4 534 c.490C>A c.(490-492)Cac>Aac p.H164N PAEP_uc010nba.1_Missense_Mutation_p.H127N|PAEP_uc004cgd.1_Missense_Mutation_p.H164N|PAEP_uc011mdp.1_Missense_Mutation_p.H142N|PAEP_uc004cgg.1_Missense_Mutation_p.H164N|PAEP_uc004cgf.1_Missense_Mutation_p.H164N NM_001018049 NP_002562 P09466 PAEP_HUMAN Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA. 164 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CCTGCCCAGGCACCTATGGTA 0.592000 51 14 7.93312e-07 8.01144e-07 1 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50186633 50186633 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:50186633G>A uc009zlk.2 - 10 3679 c.3477C>T c.(3475-3477)ccC>ccT p.P1159P NCKAP5L_uc001rvc.3_Silent_p.P363P|NCKAP5L_uc001rvb.2_Silent_p.P752P NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 1155 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCCGAGCTGGGGGTACCCCAG 0.672000 26 5 0 0 1 0 0 SLC12A8 84561 broad.mit.edu 37 3 124810371 124810371 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:124810371C>T uc003ehw.4 - 11 1990 c.1920G>A c.(1918-1920)gtG>gtA p.V640V SLC12A8_uc003ehv.4_Silent_p.V611V|SLC12A8_uc003eht.4_Silent_p.V412V|SLC12A8_uc010hry.3_Intron NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 611 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CCCACTGTATCACAAACATGA 0.483000 76 6 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578400 7578400 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7578400G>A uc002gim.2 - 4 724 c.530C>T c.(529-531)cCc>cTc p.P177L TP53_uc002gig.1_Missense_Mutation_p.P177L|TP53_uc002gih.3_Missense_Mutation_p.P177L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P45L|TP53_uc010cnf.1_Missense_Mutation_p.P45L|TP53_uc002gii.1_Missense_Mutation_p.P45L|TP53_uc010cni.1_Missense_Mutation_p.P177L|TP53_uc010cnh.1_Missense_Mutation_p.P177L|TP53_uc002gij.2_Missense_Mutation_p.P177L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P84L|TP53_uc002gio.2_Missense_Mutation_p.P45L|TP53_uc010vug.2_Missense_Mutation_p.P138L NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 177 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(112)|p.C176Y(59)|p.P177L(34)|p.P177R(34)|p.C176S(19)|p.P177_C182delPHHERC(16)|p.C176R(12)|p.C176W(11)|p.P177P(10)|p.0?(8)|p.C176*(8)|p.P177S(8)|p.C176fs*71(7)|p.C176_R181delCPHHER(6)|p.P177H(6)|p.R175_E180delRCPHHE(6)|p.C176G(4)|p.P177fs*3(4)|p.R174fs*24(3)|p.C176fs*5(3)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.P177_H179delPHH(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.P177fs*69(2)|p.R175_H178>X(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.P177I(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.P177fs*4(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.P177_C182del(1)|p.C176fs*6(1)|p.C176del(1)|p.P45R(1)|p.R81fs*24(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTCATGGTGGGGGCAGCGCCT 0.647000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 60 8 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57515255 57515255 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:57515255C>T uc004dvc.3 + 10 1638 c.1489C>T c.(1489-1491)Cct>Tct p.P497S NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 497 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CAAAGGACTCCCTTTAGGCAT 0.507000 HNSCC(52;0.14) 19 13 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 327884 327884 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:327884G>A uc002lok.1 - 3 358 c.349C>T c.(349-351)Cca>Tca p.P117S NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCATGTCTGGGAGGTTCGGG 0.617000 25 12 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101472 168101472 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:168101472G>A uc002udx.3 + 8 3659 c.3570G>A c.(3568-3570)atG>atA p.M1190I XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M1015I|XIRP2_uc010fpq.3_Missense_Mutation_p.M968I|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1015 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTGTTGAAATGGATATACAAG 0.368000 38 34 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349474 65349474 + Missense_Mutation SNP G C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:65349474G>C uc001oeo.4 + 8 1596 c.1331G>C c.(1330-1332)gGg>gCg p.G444A NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA. 444 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GAGGCGACAGGGGTGATGCCT 0.607000 22 26 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904058 5904058 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:5904058G>A uc002wmg.3 + 3 1574 c.1268G>A c.(1267-1269)gGa>gAa p.G423E CHGB_uc010zqz.2_Missense_Mutation_p.G106E NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 423 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGAGGCAGGGGAGGGGAGCCA 0.532000 127 52 0 0 1 0 0 CCNJ 54619 broad.mit.edu 37 10 97810058 97810058 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:97810058C>T uc010qoq.2 + 2 474 c.115C>T c.(115-117)Ctc>Ttc p.L39F LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.L39F|CCNJ_uc001kln.3_Missense_Mutation_p.L39F NM_001134375 NP_001127847 Q5T5M9 CCNJ_HUMAN Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA. 39 Cyclin N-terminal. nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) TCAGTTAAGTCTCAGACGGTA 0.468000 27 21 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109545722 109545722 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:109545722G>A uc010fjn.3 - 4 835 c.288C>T c.(286-288)ttC>ttT p.F96F EDAR_uc010yws.2_Silent_p.F96F|EDAR_uc002teq.4_Silent_p.F96F NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 96 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 TGGCCCGGAAGAAGCCCTCAC 0.612000 49 15 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134154611 134154612 + Missense_Mutation DNP CC TT TT rs138063978 byFrequency TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:134154611_134154612CC>TT uc003kzw.3 + 20 3059_3060 c.2891_2892CC>TT c.(2890-2892)gcc>gTT p.A964V NM_014829 NP_055644 Q7L014 DDX46_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA. 964 RNA splicing|mRNA processing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TACTCTGAAGCCGCAATTACAA 0.411000 19 14 0 0 1 0 0 ORC2 4999 broad.mit.edu 37 2 201798673 201798673 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:201798673C>T uc002uwr.3 - 9 1004 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_006190 NP_006181 Q13416 ORC2_HUMAN Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA. 245 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 CTGTGAGCTTCAAAATATTCT 0.343000 44 12 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640452 57640452 + Missense_Mutation SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57640452A>G uc002qny.3 + 3 765 c.409A>G c.(409-411)Att>Gtt p.I137V USP29_uc021vci.1_Missense_Mutation_p.I137V NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 137 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTTTACAGCATTTGTAACAA 0.373000 49 15 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344418 53344418 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:53344418G>A uc002qaf.3 - 3 1280 c.1129C>T c.(1129-1131)Cat>Tat p.H377Y ZNF468_uc002qae.3_Missense_Mutation_p.H324Y|ZNF468_uc021uzb.1_Missense_Mutation_p.H324Y NM_001008801 NP_954583 Q5VIY5 ZN468_HUMAN Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA. 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TCTCCAGTATGAAGTCTATGA 0.388000 77 47 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90425381 90425381 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:90425381G>A uc003pnn.1 - 44 6967 c.6851C>T c.(6850-6852)cCc>cTc p.P2284L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 2284 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCTGAAATTGGGATTTGGTGT 0.418000 103 18 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541612 133541612 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:133541612C>T uc002ttp.3 - 13 3146 c.2772G>A c.(2770-2772)gtG>gtA p.V924V NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 924 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAGGGGATTTCACCCCTGCCT 0.622000 51 16 0 0 1 0 0 ARF5 381 broad.mit.edu 37 7 127229594 127229594 + Silent SNP G T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:127229594G>T uc003vmb.2 + 2 351 c.204G>T c.(202-204)gtG>gtT p.V68V ARF5_uc010llb.2_Silent_p.V68V|FSCN3_uc003vmc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA. 68 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding cervix(2)|kidney(1)|lung(10)|ovary(1) 14 TCTGGGACGTGGGAGGCCAGG 0.468000 79 46 4.06502e-11 4.152e-11 1 1 0 LILRB2 10288 broad.mit.edu 37 19 54783386 54783386 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:54783386C>T uc002qfb.3 - 4 738 c.472G>A c.(472-474)Gaa>Aaa p.E158K LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.E158K|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.E158K|LILRB2_uc010yet.2_Missense_Mutation_p.E42K|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 158 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.E158*(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTTCTCCTTCCTTACACAGA 0.622000 115 50 0 0 1 0 0 C1orf150 148823 broad.mit.edu 37 1 247712498 247712498 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:247712498G>A uc001idf.3 + 0 152 c.5G>A c.(4-6)gGa>gAa p.G2E C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 2 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 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;0.0241) GAAAAGATGGGAAATTATCTC 0.483000 96 17 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849972 73849972 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:73849972C>T uc003xzb.3 + 2 2970 c.2382C>T c.(2380-2382)ttC>ttT p.F794F NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 794 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGAAACTGTTCCCTTTCTCTT 0.557000 81 16 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653921 159653921 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:159653921G>A uc010kjv.3 + 10 2577 c.2377G>A c.(2377-2379)Gat>Aat p.D793N FNDC1_uc010kjw.1_Missense_Mutation_p.D678N NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 793 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGGTGACGGCGATAGGGAAGA 0.632000 22 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074848 9074848 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9074848G>A uc002mkp.3 - 2 12802 c.12598C>T c.(12598-12600)Ctg>Ttg p.L4200L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4202 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G4199D(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 GTCTTCCCCAGGCCAGAGGTC 0.498000 30 15 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852146 63852146 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:63852146C>T uc001jlt.2 + 9 3380 c.2924C>T c.(2923-2925)tCa>tTa p.S975L ARID5B_uc001jlu.2_Missense_Mutation_p.S732L NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 975 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CTTTCAAGATCAGGAAAACCT 0.522000 41 47 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238048610 238048610 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:238048610G>A uc001hym.3 - 8 1453 c.1166C>T c.(1165-1167)cCc>cTc p.P389L LOC100130331_uc010pyc.2_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA. 389 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCCAATGTAGGGGCAGCTAGA 0.512000 51 5 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43618376 43618376 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:43618376G>A uc003cmv.3 - 5 1141 c.970C>T c.(970-972)Ctc>Ttc p.L324F ANO10_uc011azs.2_Missense_Mutation_p.L324F|ANO10_uc003cmw.3_Missense_Mutation_p.L258F|ANO10_uc010hil.3_Intron|ANO10_uc011azt.2_Missense_Mutation_p.L213F NM_018075 NP_060545 Q9NW15 ANO10_HUMAN Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA. 324 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TAGAGGCAGAGGCACACGAAT 0.507000 64 7 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34189815 34189815 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:34189815C>T uc001bxm.1 - 18 3160 c.2983G>A c.(2983-2985)Gaa>Aaa p.E995K CSMD2_uc001bxn.1_Missense_Mutation_p.E955K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 955 CUB 6. 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) TGAGATGTTTCGATAATCCAG 0.527000 57 16 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558506 129558506 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:129558506C>T uc009zyl.1 - 8 3542 c.3214G>A c.(3214-3216)Gac>Aac p.D1072N TMEM132D_uc001uia.2_Missense_Mutation_p.D610N NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 1072 integral to membrane p.D1072G(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CACTTAATGTCATCCTCGCTA 0.498000 103 36 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63957983 63957983 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:63957983G>A uc001jlw.3 - 11 1611 c.1514C>T c.(1513-1515)cCc>cTc p.P505L RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.P159L NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN Homo sapiens rhotekin 2 (RTKN2), mRNA. 505 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) AGGAGGAAGGGGAGCTTGTCT 0.398000 61 64 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147114146 147114146 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:147114146C>T uc011bno.2 - 2 517 c.331G>A c.(331-333)Gga>Aga p.G111R ZIC4_uc003ewc.2_5'UTR|ZIC4_uc021xff.1_Missense_Mutation_p.G99R|ZIC4_uc003ewd.2_Missense_Mutation_p.G61R|ZIC4_uc021xfg.1_Intron NM_001168378 NP_115529 Q8N9L1 ZIC4_HUMAN Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA. 61 nucleus DNA binding|zinc ion binding p.H111Q(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CGCAGGAGTCCATTCAAAGGA 0.736000 38 9 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4281538 4281538 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:4281538G>A uc003smx.3 + 42 6383 c.6244G>A c.(6244-6246)Ggg>Agg p.G2082R SDK1_uc010kso.3_Missense_Mutation_p.G1338R|SDK1_uc003smy.3_Missense_Mutation_p.G569R|SDK1_uc003smz.3_Missense_Mutation_p.G142R NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 2082 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAAGAAGAACGGGACCAGGTA 0.642000 42 20 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164856 139164856 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:139164856C>T uc003yuy.3 - 12 2033 c.1862G>A c.(1861-1863)gGa>gAa p.G621E FAM135B_uc003yux.3_Missense_Mutation_p.G522E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G183E|FAM135B_uc003yvb.3_Missense_Mutation_p.G183E NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 621 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTGATCTATTCCCTTTCCTAG 0.473000 HNSCC(54;0.14) 122 16 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114747 71114747 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:71114747G>A uc003hfe.4 + 3 178 c.120G>A c.(118-120)caG>caA p.Q40Q NM_005212 NP_005203 P07498 CASK_HUMAN Homo sapiens casein kappa (CSN3), mRNA. 40 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 CATTCTATCAGAAAACAGCTC 0.318000 88 20 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149924334 149924335 + Nonsense_Mutation DNP TC GT GT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:149924334_149924335TC>GT uc004feh.1 + 14 1989_1990 c.1854_1855TC>GT c.(1852-1857)cctcag>ccGTag p.Q619* MTMR1_uc011mya.1_Nonsense_Mutation_p.Q517*|MTMR1_uc004fei.3_Nonsense_Mutation_p.Q611*|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript NM_003828 NP_003819 Q13613 MTMR1_HUMAN Homo sapiens myotubularin related protein 1 (MTMR1), mRNA. 611 plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGATGAGACCTCAGGTATCTTT 0.337000 16 23 0 0 1 0 0 KLK9 284366 broad.mit.edu 37 19 51507069 51507069 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:51507069G>A uc002pux.1 - 3 581 c.494C>T c.(493-495)gCc>gTc p.A165V KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.A136V|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK8_uc002puv.1_Non-coding_Transcript NM_012315 NP_036447 Q9UKQ9 KLK9_HUMAN Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA. 165 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GCTGATGTTGGCACACTGCAG 0.577000 32 34 0 0 1 0 0 BC128131 0 broad.mit.edu 37 19 23159466 23159466 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:23159466C>T uc002nqz.1 - 1 507 c.481G>A c.(481-483)Gag>Aag p.E161K BC128131_uc002nqy.1_Non-coding_Transcript Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371). CAGGGTTTCTCTCCAGTATGA 0.358000 33 12 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770712 37770712 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:37770712G>A uc003asq.4 - 2 1649 c.863C>T c.(862-864)tCg>tTg p.S288L ELFN2_uc021wph.1_Missense_Mutation_p.S288L NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 288 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGTGGTGGACGAGGCCGGCGG 0.662000 177 47 0 0 1 0 0 HLF 3131 broad.mit.edu 37 17 53392612 53392612 + Missense_Mutation SNP A T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:53392612A>T uc002iug.1 + 2 1001 c.476A>T c.(475-477)aAt>aTt p.N159I HLF_uc010dce.1_Missense_Mutation_p.N74I|HLF_uc002iuh.2_Missense_Mutation_p.N74I|HLF_uc010wni.1_Missense_Mutation_p.N106I NM_002126 NP_002117 Q16534 HLF_HUMAN Homo sapiens hepatic leukemia factor (HLF), mRNA. 159 Pro-rich (proline/acidic region (PAR)). multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 GCAAACCGCAATACACCAAGT 0.517000 T TCF3 ALL 37 35 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58240811 58240811 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:58240811G>A uc001vhq.1 + 2 3533 c.2641G>A c.(2641-2643)Gac>Aac p.D881N PCDH17_uc010aec.1_Missense_Mutation_p.D880N|PCDH17_uc001vhr.1_5'UTR NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 881 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CACGTTTAAGGACCCAGAAAG 0.443000 17 25 0 0 1 0 0 CEP57L1 285753 broad.mit.edu 37 6 109480270 109480270 + Missense_Mutation SNP T A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:109480270T>A uc010kdk.3 + 9 1364 c.787T>A c.(787-789)Tca>Aca p.S263T CEP57L1_uc003psx.4_Missense_Mutation_p.S263T|CEP57L1_uc010kdl.3_Missense_Mutation_p.S263T|CEP57L1_uc003psy.4_Missense_Mutation_p.S263T NM_001083535 NP_776191 Q8IYX8 CE57L_HUMAN Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA. 263 microtubule|microtubule organizing center endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1) 11 GCAAATTTGTTCAAAGTTTGG 0.328000 35 29 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128294260 128294260 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:128294260G>A uc003qbk.3 - 28 4540 c.4173C>T c.(4171-4173)atC>atT p.I1391I PTPRK_uc010kfc.3_Silent_p.I1398I|PTPRK_uc003qbj.3_Silent_p.I1392I|PTPRK_uc011ebu.2_Silent_p.I1414I NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1391 Tyrosine-protein phosphatase 2. 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 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) TTTCAACAACGATGCCTATAG 0.478000 74 40 0 0 1 0 0 GATAD2A 54815 broad.mit.edu 37 19 19613204 19613204 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:19613204C>T uc010xqt.2 + 10 1952 c.1640C>T c.(1639-1641)cCg>cTg p.P547L GATAD2A_uc010xqu.2_Missense_Mutation_p.P176L|GATAD2A_uc010xqv.2_Missense_Mutation_p.P567L|GATAD2A_uc010xqw.2_Missense_Mutation_p.P350L NM_017660 NP_060130 Q86YP4 P66A_HUMAN Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA. 547 DNA methylation|negative regulation of transcription, DNA-dependent NuRD complex|nuclear speck protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 ACGTTCAGTCCGTCACCCAAA 0.667000 142 16 0 0 1 0 0 ADAM33 80332 broad.mit.edu 37 20 3652869 3652869 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:3652869G>A uc002wit.3 - 13 1596 c.1509C>T c.(1507-1509)gaC>gaT p.D503D ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.D503D|ADAM33_uc002wis.3_Silent_p.D25D|ADAM33_uc002wiu.3_Silent_p.D503D|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA. 503 Cys-rich.|Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 AGGGTGAGCCGTCCAGTAGGT 0.662000 142 4 0 0 1 0 0 TMEM237 65062 broad.mit.edu 37 2 202492842 202492842 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:202492842G>A uc021vvg.1 - 9 1001 c.900C>T c.(898-900)atC>atT p.I300I TMEM237_uc021vvd.1_Silent_p.I95I|TMEM237_uc021vve.1_Silent_p.I292I|TMEM237_uc021vvf.1_Silent_p.I95I|TMEM237_uc010zho.1_Silent_p.I95I NM_001044385 NP_001037850 Q96Q45 TM237_HUMAN Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA. 324 integral to membrane protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3) 7 AAAAATTTCGGATTGCTACTG 0.323000 13 6 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725050 123725050 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:123725050G>A uc004bkv.3 - 35 4433 c.4403C>T c.(4402-4404)cCc>cTc p.P1468L NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1468 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ATCACTGGAGGGAATCTGTTT 0.343000 92 49 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1551673 1551673 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:1551673C>T uc002cly.3 + 10 1662 c.1371C>T c.(1369-1371)ctC>ctT p.L457L NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA. 457 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GCACGTCCCTCGTTCCAGCCA 0.607000 64 28 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18616669 18616669 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:18616669C>T uc004cym.3 + 10 1166 c.913C>T c.(913-915)Cgt>Tgt p.R305C CDKL5_uc004cyn.3_Missense_Mutation_p.R305C|CDKL5_uc022btn.1_Missense_Mutation_p.R296C NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 305 neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) ACTTCTGGATCGTTCTCCTTC 0.388000 50 15 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119858427 119858427 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:119858427C>T uc004bjt.2 - 3 1120 c.1019G>A c.(1018-1020)gGa>gAa p.G340E ASTN2_uc022bml.1_Missense_Mutation_p.G40E|ASTN2_uc022bmm.1_Missense_Mutation_p.G40E NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 391 integral to membrane p.G339E(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 AAAGCTGATTCCTCCTGTGAG 0.557000 18 28 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157188163 157188163 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:157188163C>T uc003fbj.2 - 2 713 c.294G>A c.(292-294)ggG>ggA p.G98G VEPH1_uc003fbk.2_Silent_p.G98G|VEPH1_uc010hvu.2_Silent_p.G98G|VEPH1_uc021xgk.1_Silent_p.G98G|VEPH1_uc003fbn.3_Silent_p.G98G|VEPH1_uc003fbm.3_Silent_p.G98G NM_024621 NP_078897 Q14D04 MELT_HUMAN Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA. 98 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTTCGTCTTTCCCAAAGGGTC 0.458000 23 42 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177100651 177100651 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:177100651C>T uc003iuj.3 + 30 4193 c.3890C>T c.(3889-3891)tCc>tTc p.S1297F WDR17_uc003ium.4_Missense_Mutation_p.S1258F|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.S508F NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 1297 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCTGCTATCTCCTTGAATGAT 0.398000 31 30 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145040890 145040890 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:145040890C>T uc003ijo.4 - 2 297 c.181G>A c.(181-183)Gaa>Aaa p.E61K GYPA_uc003ijn.2_Missense_Mutation_p.E61K|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.E28K|GYPA_uc003ijp.4_Intron|GYPA_uc010ioq.3_Missense_Mutation_p.E61K|GYPA_uc010ior.3_Intron|GYPA_uc010ios.1_Intron NM_002099 NP_002090 P02724 GLPA_HUMAN Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA. 61 interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TCTGAAACTTCATGAGCTCTA 0.418000 29 31 0 0 1 0 0 FAM125A 93343 broad.mit.edu 37 19 17533153 17533153 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:17533153C>T uc002ngo.1 + 3 332 c.299C>T c.(298-300)tCc>tTc p.S100F FAM125A_uc002ngq.1_5'UTR NM_138401 NP_612410 Q96EY5 F125A_HUMAN Homo sapiens family with sequence similarity 125, member A (FAM125A), mRNA. 100 MABP. protein transport late endosome membrane|microtubule organizing center|nucleus SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 8 GCCTCTGTGTCCAAGAAGAAA 0.607000 50 32 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100257910 100257910 + RNA SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:100257910C>T uc021xqi.1 - 8 c.1212G>A NM_000669 P00326 ADH1G_HUMAN Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA. ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TGTATTGTTTCAAAACGTCAG 0.418000 20 18 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070509 9070509 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9070509G>A uc002mkp.3 - 2 17141 c.16937C>T c.(16936-16938)tCc>tTc p.S5646F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5648 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 TGATGTGGAGGAAACAGGAGA 0.517000 27 7 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53785796 53785796 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:53785796C>T uc003dgv.4 + 27 3700 c.3537C>T c.(3535-3537)gcC>gcT p.A1179A CACNA1D_uc003dgu.4_Silent_p.A1199A|CACNA1D_uc003dgy.4_Silent_p.A1179A|CACNA1D_uc003dgw.4_Silent_p.A846A|CACNA1D_uc003dgx.1_Silent_p.A327A NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1179 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTGAATACGCCTTGAAAGCAC 0.512000 148 42 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6065781 6065781 + Missense_Mutation SNP C T T rs151300234 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:6065781C>T uc002wmr.3 - 11 2314 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K FERMT1_uc002wmq.3_Missense_Mutation_p.E62K|FERMT1_uc010gbt.3_Missense_Mutation_p.E252K NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN Homo sapiens fermitin family member 1 (FERMT1), mRNA. 509 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TCCATGTTTTCGAGACTGGAA 0.448000 68 44 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36917621 36917621 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:36917621C>T uc022abv.1 - 18 2526 c.1816G>A c.(1816-1818)Gac>Aac p.D606N ELMO1_uc003tfi.2_Missense_Mutation_p.D126N|ELMO1_uc003tfj.2_Missense_Mutation_p.D126N|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.D510N|ELMO1_uc003tfk.2_Missense_Mutation_p.D606N|ELMO1_uc010kxg.2_Missense_Mutation_p.D606N NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 606 PH. Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TTACGTTTGTCCTGCAAGGAA 0.478000 17 19 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191941042 191941042 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:191941042G>A uc002usm.2 - 3 598 c.283C>T c.(283-285)Cat>Tat p.H95Y STAT4_uc002usn.2_Missense_Mutation_p.H95Y|STAT4_uc002uso.2_Missense_Mutation_p.H95Y|STAT4_uc002usp.4_Missense_Mutation_p.H95Y NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 95 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GGATTTCCATGAAATTTTCCC 0.328000 31 29 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69656215 69656215 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:69656215C>T uc001sut.4 + 8 1642 c.1532C>T c.(1531-1533)tCc>tTc p.S511F CPSF6_uc001suu.4_Missense_Mutation_p.S548F|CPSF6_uc010stk.2_Missense_Mutation_p.S143F NM_007007 NP_008938 Q16630 CPSF6_HUMAN Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA. 511 Arg-rich.|Sufficient for nuclear targeting. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CGTCATAAATCCCGTAGTAGA 0.473000 65 11 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4883268 4883268 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:4883268C>T uc010cku.2 - 8 1830 c.1418G>A c.(1417-1419)gGg>gAg p.G473E CAMTA2_uc002gag.2_Missense_Mutation_p.G449E|CAMTA2_uc002gah.2_Missense_Mutation_p.G450E|CAMTA2_uc002gai.2_Missense_Mutation_p.G452E|CAMTA2_uc010ckv.1_Missense_Mutation_p.G97E|CAMTA2_uc010vsu.2_Missense_Mutation_p.G263E NM_001171167 NP_001164638 O94983 CMTA2_HUMAN Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA. 450 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GAGCTCCTCCCCACTGTCATC 0.642000 90 58 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158736437 158736437 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:158736437G>A uc010piq.2 - 0 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) CCAAGATGATGAATTCTGCTA 0.463000 69 12 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69552686 69552686 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:69552686C>T uc010lyz.3 + 7 1472 c.1181C>T c.(1180-1182)cCt>cTt p.P394L C8orf34_uc003xyb.3_Missense_Mutation_p.P283L NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 308 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAAGGCCGTCCTACTTACCCT 0.413000 67 7 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45217804 45217804 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:45217804G>A uc002xsf.2 - 6 1051 c.1011C>T c.(1009-1011)ccC>ccT p.P337P SLC13A3_uc010ghn.2_Silent_p.P306P|SLC13A3_uc010zxx.2_Silent_p.P239P|SLC13A3_uc010zxw.2_Silent_p.P287P|SLC13A3_uc002xsg.2_Silent_p.P290P|SLC13A3_uc010gho.2_Silent_p.P290P NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA. 337 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CATACTTGATGGGCCCCAGGT 0.527000 94 33 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94716613 94716613 + Splice_Site SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:94716613A>G uc001ycs.1 + 15 1871 c.1717_splice c.e15+1 p.Q573_splice NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 573 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 AATTAATTGAACGTAAGTAAT 0.318000 17 8 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100204230 100204230 + Missense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100204230C>A uc003uvo.3 + 5 1115 c.917C>A c.(916-918)aCa>aAa p.T306K LOC100129845_uc011kjy.2_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA. 306 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCGGAGAAAACAGAGGAATCT 0.597000 43 21 1.22574e-08 1.23959e-08 1 1 0 OR2G2 81470 broad.mit.edu 37 1 247751946 247751946 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:247751946C>T uc010pyy.2 + 0 285 c.285C>T c.(283-285)atC>atT p.I95I NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I95N(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 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) TGAAAACTATCGCCTATGGTG 0.527000 156 23 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38885135 38885135 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:38885135G>A uc021yzh.1 + 68 10370 c.10261G>A c.(10261-10263)Gat>Aat p.D3421N DNAH8_uc003ooe.2_Missense_Mutation_p.D3204N|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.P3421P(1) 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 TGTTACTATGGATCCAGAAAA 0.398000 91 27 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394337 164394337 + Missense_Mutation SNP C T T rs149496837 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:164394337C>T uc003iqp.4 - 0 711 c.550G>A c.(550-552)Gac>Aac p.D184N NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 184 cytoplasm metal ion binding|transketolase activity p.F183F(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGGTTCACGTCGAAGACCGCC 0.522000 71 10 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812795 141812796 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:141812795_141812796CC>TT uc002tvj.1 - 9 2413_2414 c.1441_1442GG>AA c.(1441-1443)gga>AAa p.G481K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 481 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) CCCTGGCATTCCATATGGATCG 0.446000 TSP Lung(27;0.18) 34 21 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202245710 202245710 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:202245710G>A uc002uyb.4 - 15 2747 c.2301C>T c.(2299-2301)ctC>ctT p.L767L NM_015049 NP_055864 O60296 TRAK2_HUMAN Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA. 767 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GGGATTTAGGGAGAGGCTGGA 0.517000 126 91 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158502225 158502225 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:158502225C>T uc003qqx.2 + 18 2758 c.2652C>T c.(2650-2652)ttC>ttT p.F884F SYNJ2_uc003qqw.2_Silent_p.F884F|SYNJ2_uc003qqy.2_Silent_p.F647F|SYNJ2_uc003qqz.2_Silent_p.F501F|SYNJ2_uc003qra.2_Silent_p.F227F NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 884 RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TGTCCTCCTTCCAGGGCCCCC 0.532000 57 37 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55396759 55396759 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:55396759G>A uc002qhr.1 + 2 380 c.183G>A c.(181-183)atG>atA p.M61I FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.M61I|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.M34I|FCAR_uc010esi.1_Missense_Mutation_p.M34I|FCAR_uc002qhu.1_Missense_Mutation_p.M61I|FCAR_uc002qhv.1_Missense_Mutation_p.M61I|FCAR_uc002qhw.1_Missense_Mutation_p.M49I|FCAR_uc002qhx.1_Missense_Mutation_p.M49I|FCAR_uc002qhy.1_Missense_Mutation_p.M49I|FCAR_uc002qhz.1_Missense_Mutation_p.M49I|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 61 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.M61I(3) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CCCAGCTGATGATCATAAAAA 0.468000 43 22 0 0 1 0 0 CYP2U1 113612 broad.mit.edu 37 4 108866315 108866315 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:108866315C>T uc003hyp.3 + 1 763 c.680C>T c.(679-681)gCc>gTc p.A227V CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA. 227 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.A227A(1) breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) ATCAGCAATGCCGTCTCTAAC 0.438000 97 19 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7793966 7793966 + Silent SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7793966C>A uc002gjd.2 + 2 470 c.468C>A c.(466-468)acC>acA p.T156T CHD3_uc002gje.2_Silent_p.T97T|CHD3_uc002gjf.2_Silent_p.T97T|CHD3_uc002gjg.1_5'Flank NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 97 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AATATGGAACCGGACCGGGTC 0.493000 8 8 1.12685e-05 1.13478e-05 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40368658 40368658 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:40368658G>A uc002omp.4 - 27 12698 c.12690C>T c.(12688-12690)ttC>ttT p.F4230F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4230 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCCATTAGGGAAGACCTGGT 0.642000 152 31 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82188651 82188651 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:82188651C>T uc004ald.3 + 1 921 c.72C>T c.(70-72)tcC>tcT p.S24S TLE4_uc004alc.3_Silent_p.S31S|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.S24S|TLE4_uc010mps.3_Silent_p.S24S|TLE4_uc004alf.3_5'Flank NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTTCCGAATCCTGTGATCGGA 0.413000 8 12 0 0 1 0 0 PACRGL 133015 broad.mit.edu 37 4 20728952 20728952 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:20728952C>T uc010iek.3 + 8 1126 c.735C>T c.(733-735)tcC>tcT p.S245S PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Silent_p.S218S|PACRGL_uc011bxm.2_3'UTR|PACRGL_uc003gqa.3_Silent_p.S120S|PACRGL_uc011bxn.2_Silent_p.S120S NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA. 245 binding p.S218S(1) endometrium(2)|lung(7)|prostate(1) 10 CATACTGCTCCATATGCTGTT 0.368000 57 8 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531653 92531653 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:92531653C>T uc001pdj.4 + 8 5491 c.5474C>T c.(5473-5475)aCg>aTg p.T1825M NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1825 Cadherin 16. 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) AAGTTTTTCACGGTGGACTCC 0.473000 TCGA Ovarian(4;0.039) 9 15 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177905472 177905472 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:177905472G>A uc001glj.1 - 24 3401 c.2535C>T c.(2533-2535)tcC>tcT p.S845S SEC16B_uc001glk.1_Silent_p.S521S|SEC16B_uc009wwy.1_Silent_p.S399S|SEC16B_uc001glh.1_Silent_p.S503S|SEC16B_uc001gli.1_Silent_p.S844S|SEC16B_uc009wwz.1_Silent_p.S503S NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 844 Q -> H (in dbSNP:rs7522194). protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CAGGAGGCTGGGAAGTTTCTT 0.458000 17 3 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133474253 133474253 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:133474253G>A uc003epu.2 + 9 2277 c.549G>A c.(547-549)ggG>ggA p.G183G TF_uc011bls.1_Silent_p.G183G|TF_uc011blt.2_Silent_p.G56G|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.G183G NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 183 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GTGCGGATGGGACGGACTTCC 0.572000 37 45 0 0 1 0 0 VN1R10P 387316 broad.mit.edu 37 6 27293176 27293176 + Nonsense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:27293176C>T uc010jqt.3 + 0 637 c.115C>T c.(115-117)Caa>Taa p.Q39* NM_032030 NP_114419 SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b; AATGATATTTCAAAGTGCCAT 0.368000 109 48 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994511 144994511 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:144994511G>A uc003zaf.1 - 31 10059 c.9889C>T c.(9889-9891)Cga>Tga p.R3297* PLEC_uc003zab.1_Nonsense_Mutation_p.R3160*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3164*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3160*|PLEC_uc003zae.1_Nonsense_Mutation_p.R3128*|PLEC_uc003zag.1_Nonsense_Mutation_p.R3138*|PLEC_uc003zah.2_Nonsense_Mutation_p.R3146*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3187* NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3297 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGCAGCCTCGGGCGCAGGCG 0.721000 9 23 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240387 3240387 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:3240387C>T uc004crg.4 - 4 3496 c.3339G>A c.(3337-3339)gcG>gcA p.A1113A NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1113 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) CTGTGGTTTCCGCAGGCTTCT 0.493000 27 29 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382192 152382192 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:152382192C>T uc001ezx.2 - 2 1440 c.1366G>A c.(1366-1368)Gac>Aac p.D456N NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 456 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGCCCTGGTCCAGCCTGAGG 0.557000 43 90 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38152539 38152539 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:38152539C>T uc002htn.1 + 9 1588 c.1424C>T c.(1423-1425)gCc>gTc p.A475V PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.A376V NM_002809 NP_002800 O43242 PSMD3_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA. 475 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) CCCCAGCTAGCCTTCCACCAG 0.557000 165 103 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41545984 41545984 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:41545984C>T uc003azl.4 + 13 2994 c.2599C>T c.(2599-2601)Cct>Tct p.P867S NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 867 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TCCTACACCTCCTGCCATGCC 0.592000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 88 17 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104133441 104133441 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:104133441C>T uc010mtd.3 - 1 355 c.246G>A c.(244-246)ctG>ctA p.L82L BAAT_uc004bbd.4_Silent_p.L82L NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 82 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TTTCAGGTTTCAGAGACCAGA 0.423000 31 90 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400535 89400535 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:89400535G>A uc010upo.1 + 11 5093 c.4719G>A c.(4717-4719)agG>agA p.R1573R ACAN_uc010upp.1_Silent_p.R1573R|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1573 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) CTTCTGGAAGGGAGGGTCTAG 0.542000 41 26 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131353841 131353841 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:131353841C>T uc004bvl.4 + 21 3234 c.3092C>T c.(3091-3093)tCc>tTc p.S1031F SPTAN1_uc011mbg.2_Missense_Mutation_p.S1031F|SPTAN1_uc011mbh.2_Missense_Mutation_p.S1043F|SPTAN1_uc004bvm.4_Missense_Mutation_p.S1031F|SPTAN1_uc004bvn.4_Missense_Mutation_p.S1031F NM_003127 NP_003118 Q13813 SPTA2_HUMAN Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA. 1031 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CAGTCAGCCTCCCGGGAGAAT 0.562000 125 25 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50916399 50916399 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:50916399G>A uc001zyt.4 - 11 1686 c.1404C>T c.(1402-1404)ttC>ttT p.F468F TRPM7_uc010bew.2_Silent_p.F468F|TRPM7_uc001zyu.3_Silent_p.F26F NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 468 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GAATGGTAAGGAATTTATGCA 0.338000 19 13 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123301320 123301320 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:123301320G>A uc003ieo.3 + 2 328 c.96G>A c.(94-96)acG>acA p.T32T ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T NM_139243 NP_001152767 Q96M93 ADAD1_HUMAN Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA. 32 RNA processing|multicellular organismal development nucleus adenosine deaminase activity|double-stranded RNA binding p.K31K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CGACAAAGACGATAACTACAC 0.468000 45 27 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196682902 196682902 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:196682902G>A uc001gtj.4 + 9 1614 c.1374G>A c.(1372-1374)ggG>ggA p.G458G 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. 458 Sushi 8. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTGAGAATGGGTTTATTTCTG 0.294000 35 4 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174110 51174110 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:51174110G>A uc021tif.1 - 1 2054 c.1732C>T c.(1732-1734)Cct>Tct p.P578S SALL1_uc021tid.1_Missense_Mutation_p.P578S|SALL1_uc021tie.1_Missense_Mutation_p.P675S|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 675 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 p.P577H(1)|p.P675S(1) 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) CCCCCAAAAGGAAACTTGGCC 0.582000 104 16 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56207499 56207499 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:56207499G>A uc021wzo.1 - 2 1264 c.1124C>T c.(1123-1125)gCt>gTt p.A375V ERC2_uc003dhr.1_Missense_Mutation_p.A375V NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 375 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) AGTCTGGAGAGCCTTCGTCTT 0.473000 62 13 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159344483 159344483 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:159344483G>A uc003lxt.1 + 0 744 c.571G>A c.(571-573)Gat>Aat p.D191N NM_000679 NP_000670 P35368 ADA1B_HUMAN Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA. 191 G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) GGCACCCAACGATGACAAGGA 0.592000 53 15 0 0 1 0 0 GPR6 2830 broad.mit.edu 37 6 110300902 110300902 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:110300902C>T uc011eav.2 + 2 876 c.632C>T c.(631-633)tCc>tTc p.S211F GPR6_uc011eaw.2_Missense_Mutation_p.S196F|GPR6_uc003ptu.3_Missense_Mutation_p.S196F|GPR6_uc021zds.1_Missense_Mutation_p.S196F NM_005284 NP_005275 P46095 GPR6_HUMAN Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA. 196 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) TGGACCGTGTCCCTAGGCCTG 0.697000 30 8 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161029125 161029125 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:161029125G>A uc002ubh.2 - 5 891 c.876C>T c.(874-876)ctC>ctT p.L292L ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Silent_p.L292L|ITGB6_uc010zcq.1_Silent_p.L250L|ITGB6_uc010fov.1_Silent_p.L292L NM_000888 NP_000879 P18564 ITB6_HUMAN Homo sapiens integrin, beta 6 (ITGB6), mRNA. 292 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity p.G291W(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 CCAAGTGACAGAGCCCGTCAT 0.468000 162 17 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73800220 73800220 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:73800220C>T uc002sje.1 + 15 11324 c.11213C>T c.(11212-11214)cCc>cTc p.P3738L ALMS1_uc002sjf.1_Missense_Mutation_p.P3696L|ALMS1_uc002sjg.3_Missense_Mutation_p.P3126L|ALMS1_uc002sjh.1_Missense_Mutation_p.P3126L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 3738 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GATTGTCGGCCCTCAGAGGAG 0.378000 40 28 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28713961 28713961 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:28713961G>A uc002kwn.3 - 12 2271 c.2009C>T c.(2008-2010)cCa>cTa p.P670L DSC1_uc002kwm.3_Missense_Mutation_p.P670L NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 670 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ACACTCAGATGGAGTTGAACA 0.363000 49 56 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103124627 103124627 + Nonsense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:103124627C>T uc002tbz.4 + 4 1745 c.1288C>T c.(1288-1290)Cga>Tga p.R430* NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 430 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CAGTGGTGTTCGAGGAGCTGG 0.413000 74 20 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112665 248112665 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248112665G>A uc001idt.1 + 0 506 c.506G>A c.(505-507)cGa>cAa p.R169Q OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCTTATTGCCGATCCAGGGCC 0.478000 48 56 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71114944 71114944 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:71114944C>T uc003hfe.4 + 3 375 c.317C>T c.(316-318)aCt>aTt p.T106I NM_005212 NP_005203 P07498 CASK_HUMAN Homo sapiens casein kappa (CSN3), mRNA. 106 extracellular region protein binding p.P105P(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 CACCCACCCACTGTGGTACGT 0.463000 20 37 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962701 69962701 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:69962701C>T uc003heg.4 + 0 509 c.463C>T c.(463-465)Ccc>Tcc p.P155S UGT2B7_uc010ihq.3_Missense_Mutation_p.P155S NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 155 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.F154Y(1) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGCTATTTTTCCCTGTAGTGA 0.358000 51 63 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47045637 47045637 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:47045637C>T uc003cqp.3 + 36 6131 c.5952C>T c.(5950-5952)cgC>cgT p.R1984R NBEAL2_uc010hjm.2_Silent_p.R1361R|NBEAL2_uc010hjn.2_Silent_p.R380R NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 1984 binding p.L1984L(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TCAACCTGCGCCGTTCAGCAC 0.587000 158 207 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023388 31023388 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:31023388C>T uc021wbw.1 + 12 3305 c.2873C>T c.(2872-2874)tCa>tTa p.S958L ASXL1_uc002wxs.3_Missense_Mutation_p.S957L|ASXL1_uc010geb.3_Missense_Mutation_p.S849L NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 958 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.T957S(2)|p.(574_1542)fs*?(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AGCCTTACTTCACTCTGGACT 0.527000 """F, N, Mis""" """MDS, CMML""" 47 69 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164518 139164518 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:139164518C>T uc003yuy.3 - 12 2371 c.2200G>A c.(2200-2202)Gaa>Aaa p.E734K FAM135B_uc003yux.3_Missense_Mutation_p.E635K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E296K|FAM135B_uc003yvb.3_Missense_Mutation_p.E296K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 734 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTGTTACTTTCTGTGTGTCCA 0.542000 HNSCC(54;0.14) 66 13 0 0 1 0 0 RGS8 85397 broad.mit.edu 37 1 182615997 182615997 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:182615997G>A uc010pnw.1 - 6 674 c.416C>T c.(415-417)tCc>tTc p.S139F RGS8_uc001gpn.1_Missense_Mutation_p.S139F|RGS8_uc001gpm.1_Missense_Mutation_p.S157F NM_001102450 NP_001095920 P57771 RGS8_HUMAN Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA. 139 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GCAAGTCAGGGATGGCTCCTG 0.507000 223 41 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700274 77700274 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:77700274C>T uc011cbx.2 + 10 6888 c.5935C>T c.(5935-5937)Cct>Tct p.P1979S SHROOM3_uc003hkg.3_Missense_Mutation_p.P1757S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 1979 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGAGCCCATTCCTGCTGGGGG 0.517000 83 9 0 0 1 0 0 FIS1 51024 broad.mit.edu 37 7 100884135 100884135 + Silent SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100884135C>A uc003uyj.4 - 2 317 c.231G>T c.(229-231)ctG>ctT p.L77L CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript NM_016068 NP_057152 Q9Y3D6 FIS1_HUMAN Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA. 77 apoptosis|mitochondrial fission|peroxisome fission integral to mitochondrial outer membrane|integral to peroxisomal membrane protein binding kidney(1)|large_intestine(2)|lung(1) 4 Lung NSC(181;0.168)|all_lung(186;0.215) TCCCCACGGCCAGGTAGAAGA 0.592000 92 41 3.61848e-18 3.71179e-18 1 1 0 PLXNB1 5364 broad.mit.edu 37 3 48456644 48456644 + Missense_Mutation SNP T A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:48456644T>A uc003csw.2 - 19 4177 c.3907A>T c.(3907-3909)Agg>Tgg p.R1303W PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R1120W|PLXNB1_uc003csx.2_Missense_Mutation_p.R1303W|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_Missense_Mutation_p.R11W NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 1303 IPT/TIG 3.|Poly-Arg. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACGCGACGCCTCCGTCCAAGC 0.637000 62 8 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13724823 13724823 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:13724823G>A uc001rbt.2 - 9 2265 c.2086C>T c.(2086-2088)Cgc>Tgc p.R696C NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 696 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|glycine binding|zinc ion binding p.R696C(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGTTATTGCGAATATTTCTC 0.483000 43 22 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49168221 49168221 + Silent SNP G A A rs115957272 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:49168221G>A uc001rsh.4 - 12 2907 c.2247C>T c.(2245-2247)tcC>tcT p.S749S ADCY6_uc001rsi.4_Silent_p.S749S|ADCY6_uc001rsj.4_Silent_p.S749S|ADCY6_uc010slw.1_5'UTR|MIR4701_uc021qxl.1_5'Flank NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 749 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 ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CAAGCAGGACGGAAAAGATGC 0.557000 51 27 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56598703 56598703 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:56598703G>A uc010wnx.2 - 9 1216 c.1071C>T c.(1069-1071)atC>atT p.I357I SEPT4_uc002iwk.2_Silent_p.I195I|SEPT4_uc010wnw.2_Silent_p.I195I|SEPT4_uc002iwl.2_Silent_p.I195I|SEPT4_uc002iwm.2_Silent_p.I342I|SEPT4_uc002iwo.2_Silent_p.I323I|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Silent_p.I334I|SEPT4_uc010dcy.2_3'UTR NM_080416 NP_536341 O43236 SEPT4_HUMAN Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA. 342 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCAAATGGGATGCTTTCCT 0.532000 OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 14 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966551 41966551 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:41966551G>A uc010skn.2 + 9 1978 c.1970G>A c.(1969-1971)gGg>gAg p.G657E PDZRN4_uc001rmq.4_Missense_Mutation_p.G399E|PDZRN4_uc009zjz.3_Missense_Mutation_p.G397E|PDZRN4_uc001rmr.3_Missense_Mutation_p.G284E NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 657 ubiquitin-protein ligase activity|zinc ion binding p.A657S(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGCAATCAAGGGGAGCAAGAG 0.448000 80 13 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16032718 16032718 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:16032718G>A uc010lsu.3 - 2 313 c.249C>T c.(247-249)atC>atT p.I83I MSR1_uc003wwz.3_Silent_p.I65I|MSR1_uc003wxa.3_Silent_p.I65I|MSR1_uc003wxb.3_Silent_p.I65I|MSR1_uc011kxz.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 65 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CAATGAGAGGGATGAGAACTG 0.408000 42 13 0 0 1 0 0 GTPBP5 26164 broad.mit.edu 37 20 60775992 60775992 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:60775992G>A uc002yce.4 + 6 1118 c.1080G>A c.(1078-1080)cgG>cgA p.R360R GTPBP5_uc011aaf.2_Silent_p.R202R|GTPBP5_uc011aab.2_Silent_p.R132R|GTPBP5_uc011aac.2_Silent_p.R132R|GTPBP5_uc011aad.2_Silent_p.R132R|GTPBP5_uc011aae.2_Silent_p.R132R NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA. 360 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2) 15 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) CCCAGCTCCGGGATCACTTGG 0.587000 37 50 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123109300 123109300 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:123109300C>T uc003vkn.3 - 8 2126 c.1549G>A c.(1549-1551)Gat>Aat p.D517N IQUB_uc003vko.3_Missense_Mutation_p.D517N|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.D517N NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 517 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 AACAGCACATCCAGCCTCTCA 0.358000 51 34 0 0 1 0 0 SFTA3 253970 broad.mit.edu 37 14 36946289 36946289 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:36946289C>T uc001wtr.3 - 2 780 c.148G>A c.(148-150)Gaa>Aaa p.E50K SFTA3_uc001wtq.3_Non-coding_Transcript|SFTA3_uc001wts.3_Non-coding_Transcript NM_001101341 NP_001094811 P0C7M3 SFTA3_HUMAN Homo sapiens surfactant associated 3 (SFTA3), mRNA. 50 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 ATCCGCTTTTCCCTCTCCCTC 0.522000 43 30 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106725435 106725435 + RNA SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:106725435G>A uc021ser.1 - 927 c.22077C>T Parts of antibodies, mostly variable regions. CTGCACAGGAGAGTCTCAGGG 0.572000 515 96 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10436868 10436868 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10436868G>A uc010coi.3 - 19 2390 c.2262C>T c.(2260-2262)tcC>tcT p.S754S AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S754S|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. 754 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 CAATGTCGATGGATGCAAGGA 0.408000 63 51 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066296 23066296 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:23066296G>A uc002wsv.3 - 0 682 c.534C>T c.(532-534)ttC>ttT p.F178F NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 178 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) ACTTGCACACGAAGCCCTCAA 0.652000 61 62 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34226192 34226192 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:34226192G>A uc001mvl.2 - 1 1354 c.929C>T c.(928-930)tCc>tTc p.S310F NM_145804 NP_665803 A8K6S9 A8K6S9_HUMAN Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA. 124 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) ATGGCCCAGGGACCCGCCGTT 0.627000 13 22 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2592967 2592967 + Missense_Mutation SNP G T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:2592967G>T uc002wgf.1 + 12 1739 c.1724G>T c.(1723-1725)tGg>tTg p.W575L TMC2_uc002wgg.1_Missense_Mutation_p.W559L|TMC2_uc010zpw.1_Missense_Mutation_p.W407L|TMC2_uc010zpx.1_Missense_Mutation_p.W406L NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 575 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GGTTCTTGCTGGGAGACAGCT 0.498000 114 11 1.61879e-10 1.65108e-10 1 1 0 PTGS2 5743 broad.mit.edu 37 1 186647512 186647512 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:186647512G>A uc001gsb.3 - 3 475 c.338C>T c.(337-339)cCa>cTa p.P113L PTGS2_uc009wyo.3_5'UTR NM_000963 NP_000954 P35354 PGH2_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA. 113 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|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 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154) GTAAGTTGGTGGACTGTCAAT 0.358000 23 29 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103244823 103244823 + Missense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:103244823C>A uc022ajr.1 - 22 3276 c.3116G>T c.(3115-3117)gGg>gTg p.G1039V RELN_uc022ajq.1_Missense_Mutation_p.G1039V|RELN_uc010liz.3_Missense_Mutation_p.G1039V NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1039 EGF-like 2. 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) TGAGCCATGCCCACTGCACAT 0.532000 62 36 2.09667e-21 2.15691e-21 1 1 0 ITGA5 3678 broad.mit.edu 37 12 54797943 54797943 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:54797943C>T uc001sga.3 - 14 1619 c.1551G>A c.(1549-1551)ggG>ggA p.G517G NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 517 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CCACAGGGTTCCCCTCTAAGC 0.612000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 42 0 0 1 0 0 ASGR2 433 broad.mit.edu 37 17 7010461 7010461 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:7010461C>T uc002gep.3 - 6 788 c.521G>A c.(520-522)aGg>aAg p.R174K ASGR2_uc002gen.1_Missense_Mutation_p.R155K|ASGR2_uc002geo.2_Missense_Mutation_p.R169K|ASGR2_uc002geq.3_Missense_Mutation_p.R150K|ASGR2_uc002ger.3_Missense_Mutation_p.R174K NM_001181 NP_550434 P07307 ASGR2_HUMAN Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA. 174 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) GCAGCAGGTCCTTTGGGAGCC 0.662000 64 26 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31500279 31500279 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:31500279C>T uc002ecf.4 + 10 1378 c.1359C>T c.(1357-1359)ttC>ttT p.F453F SLC5A2_uc010car.3_Intron|C16orf58_uc002ecg.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 453 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GGCAGCTCTTCGATTACATCC 0.662000 74 16 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410937 130410937 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:130410937C>T uc004ewe.4 - 13 2882 c.2599G>A c.(2599-2601)Gac>Aac p.D867N IGSF1_uc004ewd.3_Missense_Mutation_p.D862N|IGSF1_uc022cdv.1_Missense_Mutation_p.D853N|IGSF1_uc004ewf.2_Missense_Mutation_p.D842N NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 862 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCCACAGGGTCGCTGGGCTCA 0.557000 89 119 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121384959 121384959 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:121384959G>A uc001pxx.3 + 7 1269 c.1140G>A c.(1138-1140)ctG>ctA p.L380L NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 380 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CAGAGGGGCTGAAGTTCTCCC 0.537000 17 28 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306810 54306810 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:54306810C>T uc021smr.1 + 0 1710 c.1710C>T c.(1708-1710)ttC>ttT p.F570F UNC13C_uc021sms.1_Silent_p.F570F NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 570 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) ATCAGTTTTTCACTAGAACTA 0.428000 22 15 0 0 1 0 0 C12orf12 196477 broad.mit.edu 37 12 91348402 91348402 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:91348402G>A uc001tbj.3 - 0 552 c.118C>T c.(118-120)Cga>Tga p.R40* NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 40 NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 GGGCGCCTTCGATGGCAGGAC 0.667000 26 7 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809341 5809341 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:5809341G>A uc010qzo.2 - 0 706 c.706C>T c.(706-708)Cga>Tga p.R236* TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA. 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GCCTTCTGTCGAGCATCTGCT 0.478000 20 52 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701903 56701903 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:56701903C>T uc010ygh.2 - 3 781 c.781G>A c.(781-783)Gcc>Acc p.A261T NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 261 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R260I(1) breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCCACAGAGGCTCTTTTCTGG 0.493000 87 29 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41137656 41137656 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:41137656G>A uc002yyo.3 + 2 398 c.295G>A c.(295-297)Gac>Aac p.D99N NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA. 99 Ig-like V-type 1. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TCAGAGGTACGACCAGGGCGG 0.567000 37 14 0 0 1 0 0 WASH2P 375260 broad.mit.edu 37 2 114356239 114356239 + Silent SNP T C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:114356239T>C uc002tkh.3 + 5 775 c.717T>C c.(715-717)cgT>cgC p.R239R WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA. CCTTTGCCCGTGTGTCAGACT 0.642000 17 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179427525 179427525 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179427525C>T uc021vsy.1 - 274 75855 c.75630G>A c.(75628-75630)gtG>gtA p.V25210V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V18905V|TTN_uc021vta.1_Silent_p.V18838V|TTN_uc021vtb.1_Silent_p.V18713V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26137 Fibronectin type-III 83. 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) AGTCTTTCTTCACTTCTCTTA 0.398000 16 15 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15792603 15792603 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:15792603C>T uc001awk.3 + 5 629 c.603C>T c.(601-603)atC>atT p.I201I NM_033440 NP_254275 P08217 CEL2A_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA. 201 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 CCAGTATGATCTGTGCTGGGG 0.572000 108 67 0 0 1 0 0 STK38 11329 broad.mit.edu 37 6 36492192 36492192 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:36492192G>A uc003omg.3 - 2 820 c.232C>T c.(232-234)Cgt>Tgt p.R78C STK38_uc003omh.3_Missense_Mutation_p.R78C|STK38_uc003omi.3_Missense_Mutation_p.R78C NM_007271 NP_009202 Q15208 STK38_HUMAN Homo sapiens serine/threonine kinase 38 (STK38), mRNA. 78 Interaction with S100B. intracellular protein kinase cascade|negative regulation of MAP kinase activity MLL5-L complex|cytoplasm ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTTCAAACGAAGAAACTCT 0.393000 64 36 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712283 121712283 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:121712283G>A uc003ees.3 - 6 1516 c.1313C>T c.(1312-1314)cCt>cTt p.P438L ILDR1_uc003eeq.3_Missense_Mutation_p.P406L|ILDR1_uc003eer.3_Missense_Mutation_p.P394L|ILDR1_uc010hrg.3_Missense_Mutation_p.P349L NM_001199799 NP_001186728 Q86SU0 ILDR1_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA. 438 Arg-rich. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GCTCCTGAAAGGAGGGTGGCT 0.662000 30 5 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112301 154112301 + Nonsense_Mutation SNP G A A rs142024728 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:154112301G>A uc001fdw.3 - 4 766 c.694C>T c.(694-696)Cga>Tga p.R232* NUP210L_uc010peh.2_Nonsense_Mutation_p.R232* NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 232 integral to membrane p.R232*(2) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TCATGAATTCGAACTTTTACA 0.368000 327 48 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153665857 153665857 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:153665857C>T uc001fcs.4 + 21 3574 c.3153C>T c.(3151-3153)ctC>ctT p.L1051L NPR1_uc010pdz.2_Silent_p.L797L|NPR1_uc010pea.2_Silent_p.L529L NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 1051 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CCTACTGGCTCCTTGGGGAGA 0.612000 70 106 0 0 1 0 0 BC034424 0 broad.mit.edu 37 15 72639138 72639138 + Splice_Site SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:72639138G>A uc002aug.3 + 2 c.1577_splice c.e2+1 CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Intron|HEXA_uc002aun.4_Intron|HEXA_uc010bix.3_Intron|HEXA_uc010biy.2_Intron|HEXA_uc010uko.1_Intron Homo sapiens hexosaminidase A (alpha polypeptide), mRNA (cDNA clone IMAGE:4823589). TGGGACAACAGGTATGTGCTC 0.502000 31 9 0 0 1 0 0 AK057473 0 broad.mit.edu 37 17 20805938 20805938 + RNA SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:20805938G>A uc002gyg.1 + 3 c.1122G>A AK057473_uc002gyh.1_Non-coding_Transcript Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210. TTCCCGGTCAGAAAGACCCCG 0.592000 36 5 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151716751 151716751 + Missense_Mutation SNP G T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:151716751G>T uc003wkp.3 + 8 1467 c.1197G>T c.(1195-1197)aaG>aaT p.K399N GALNTL5_uc010lqf.3_Missense_Mutation_p.K288N|GALNTL5_uc003wkq.3_Missense_Mutation_p.K150N|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. 399 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) TTCTTCGAAAGCCTGGTCTGA 0.378000 59 35 1.57019e-19 1.613e-19 1 1 0 MEFV 4210 broad.mit.edu 37 16 3299597 3299597 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:3299597C>T uc002cun.1 - 2 1134 c.1094G>A c.(1093-1095)gGa>gAa p.G365E MEFV_uc021tbw.1_Missense_Mutation_p.G154E|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 365 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) GCTTAGGCTTCCCGGGCTCTT 0.647000 42 14 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140729878 140729878 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140729878C>T uc003ljo.2 + 0 51 c.51C>T c.(49-51)ccC>ccT p.P17P PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.P17P NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 0 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) TACTGTTTCCCTTCCTGCTGT 0.522000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 5 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458237 248458237 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248458237G>A uc010pzj.2 - 0 644 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GAGACCATAGGAGGACAGGAT 0.537000 55 81 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13850769 13850769 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:13850769G>A uc003jfd.2 - 30 5148 c.5106C>T c.(5104-5106)tcC>tcT p.S1702S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1702 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) ACCCAGTAAGGGATTTCTGGC 0.463000 Kartagener syndrome 62 18 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155188246 155188247 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:155188246_155188247CC>TT uc001fjd.3 - 1 195_196 c.51_52GG>AA c.(49-54)agggta>agAAta p.V18I GBA_uc001fjf.4_Intron|GBA_uc001fje.4_5'UTR|GBA_uc021pau.1_Intron P04062 GLCM_HUMAN Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA. 18 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding p.R17M(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) 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) Alglucerase(DB00088)|Imiglucerase(DB00053) ATGATGCTTACCCTACCCGAAG 0.554000 Gaucher disease type I 226 50 0 0 1 0 0 DNA2 1763 broad.mit.edu 37 10 70229752 70229752 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:70229752G>A uc021pru.1 - 1 501 c.501C>T c.(499-501)atC>atT p.I167I DNA2_uc021prt.1_Silent_p.I167I|DNA2_uc001jog.2_Silent_p.I81I|DNA2_uc001joh.2_Non-coding_Transcript NM_001080449 NP_001073918 P51530 DNA2L_HUMAN Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA. 81 DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 CATTCCTAAGGATGCATAGTT 0.393000 7 4 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39577166 39577167 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:39577166_39577167CC>TT uc002hwp.1 - 6 1360_1361 c.1313_1314GG>AA c.(1312-1314)ggg>gAA p.G438E NM_003770 NP_003761 O76014 KRT37_HUMAN Homo sapiens keratin 37 (KRT37), mRNA. 438 Tail. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CAGAGGGAGACCCACCGGTGAC 0.574000 31 9 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33338182 33338182 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:33338182G>A uc002xav.3 - 9 4387 c.1816C>T c.(1816-1818)Ctc>Ttc p.L606F NCOA6_uc002xaw.3_Missense_Mutation_p.L606F|NCOA6_uc021wcd.1_Missense_Mutation_p.L606F|NCOA6_uc021wce.1_Missense_Mutation_p.L606F|NCOA6_uc021wcf.1_Missense_Mutation_p.L606F NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 606 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATGTTGCTGAGGTTCACTTGA 0.582000 84 8 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 101847169 101847169 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:101847169C>T uc003pqp.4 + 0 309 c.16C>T c.(16-18)Ccg>Tcg p.P6S GRIK2_uc021zdi.1_Non-coding_Transcript|GRIK2_uc021zdj.1_Missense_Mutation_p.P6S|GRIK2_uc003pqn.3_Missense_Mutation_p.P6S|GRIK2_uc010kcw.3_Missense_Mutation_p.P6S|GRIK2_uc003pqo.4_Missense_Mutation_p.P6S|GRIK2_uc021zdk.1_Missense_Mutation_p.P6S|GRIK2_uc021zdl.1_Non-coding_Transcript NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 6 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GATTATTTTCCCGATTCTAAG 0.488000 40 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516620 179516620 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179516620G>A uc021vsy.1 - 158 32293 c.32068C>T c.(32068-32070)Cct>Tct p.P10690S MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11617 Glu-rich.|Pro-rich. 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) CCTTGTGGAGGCGCCGCTGGC 0.512000 8 4 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43044283 43044283 + Missense_Mutation SNP G T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:43044283G>T uc001zqo.2 - 13 3600 c.3161C>A c.(3160-3162)cCa>cAa p.P1054Q TTBK2_uc010bcy.2_Missense_Mutation_p.P985Q NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA. 1054 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AACTGGCCTTGGAATTTTGCT 0.493000 71 19 0.000132079 0.000132821 1 1 0 IQSEC1 9922 broad.mit.edu 37 3 12950814 12950814 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:12950814G>A uc003bxt.2 - 10 2588 c.2579C>T c.(2578-2580)tCc>tTc p.S860F IQSEC1_uc003bxu.3_Missense_Mutation_p.S738F|IQSEC1_uc011auw.1_Missense_Mutation_p.S846F NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 860 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTCCGCAATGGACTCCCGCAG 0.537000 115 21 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 54025323 54025323 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:54025323C>T uc011dxa.2 + 6 2398 c.2365C>T c.(2365-2367)Cct>Tct p.P789S MLIP_uc003pcf.2_Missense_Mutation_p.P778S|MLIP_uc003pcg.4_Missense_Mutation_p.P254S|MLIP_uc003pch.4_Intron NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 254 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 GCTCTATTTTCCTGCACAGCT 0.418000 44 6 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129681983 129681983 + Missense_Mutation SNP A C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:129681983A>C uc001lka.1 - 1 549 c.386T>G c.(385-387)gTg>gGg p.V129G CLRN3_uc001ljz.1_Missense_Mutation_p.V61G NM_152311 NP_689524 Q8NCR9 CLRN3_HUMAN Homo sapiens clarin 3 (CLRN3), mRNA. 129 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) CCAGGTGTACACCCCCGTCGG 0.572000 22 22 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112786338 112786338 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:112786338G>A uc002thk.1 + 18 3019 c.2897G>A c.(2896-2898)gGg>gAg p.G966E MERTK_uc002thl.1_Missense_Mutation_p.G790E NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 966 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 p.G966V(2) 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 GTTAGGAATGGGGTCTCCTGG 0.537000 51 10 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141122267 141122267 + Missense_Mutation SNP G C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:141122267G>C uc002tvj.1 - 71 12066 c.11094C>G c.(11092-11094)gaC>gaG p.D3698E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3698 LDL-receptor class A 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D3698N(1) 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) TGTCTCCACAGTCGTCCTCTC 0.408000 TSP Lung(27;0.18) 101 5 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150528791 150528791 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:150528791G>A uc009wlw.3 + 8 1752 c.1594G>A c.(1594-1596)Gga>Aga p.G532R ADAMTSL4_uc001euw.3_Missense_Mutation_p.G509R|ADAMTSL4_uc001eux.3_Missense_Mutation_p.G509R|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.G532R|ADAMTSL4_uc009wlx.3_5'Flank NM_019032 NP_061905 Q6UY14 ATL4_HUMAN Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA. 509 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GATTCCAGCGGGAGCCTTGCG 0.617000 127 20 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129470195 129470195 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:129470195G>A uc021zfb.1 + 6 1086 c.981G>A c.(979-981)caG>caA p.Q327Q LAMA2_uc003qbn.3_Silent_p.Q327Q|LAMA2_uc003qbo.3_Silent_p.Q327Q NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 327 Laminin EGF-like 1. 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.Q327*(1) 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) GATTCCATCAGAAACCCTGGA 0.403000 41 23 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323206 31323206 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:31323206G>A uc003jhe.2 + 11 2524 c.2164G>A c.(2164-2166)Gaa>Aaa p.E722K NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 722 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.E722K(4) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAGGTTAAAGGAAAATGACAC 0.562000 65 5 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121994742 121994742 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:121994742G>A uc003eew.4 + 4 1899 c.1461G>A c.(1459-1461)ggG>ggA p.G487G CASR_uc003eev.4_Silent_p.G487G NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 487 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) ACCTGGTGGGGAACTATTCCA 0.488000 50 72 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160278903 160278903 + Missense_Mutation SNP G T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:160278903G>T uc001fvv.4 - 12 1601 c.1207C>A c.(1207-1209)Cag>Aag p.Q403K COPA_uc009wti.3_Missense_Mutation_p.Q403K|COPA_uc009wtj.1_Missense_Mutation_p.Q349K NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 403 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCAGGATTCTGGGAGTCAGCA 0.433000 134 13 4.7546e-09 4.81513e-09 1 1 0 UBN1 29855 broad.mit.edu 37 16 4924567 4924567 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:4924567C>T uc002cyb.3 + 14 2495 c.2156C>T c.(2155-2157)gCg>gTg p.A719V UBN1_uc010uxw.2_Missense_Mutation_p.A719V|UBN1_uc002cyc.3_Missense_Mutation_p.A719V NM_001079514 NP_058632 Q9NPG3 UBN1_HUMAN Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA. 719 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 AGGAACTTTGCGAAGCCTAGT 0.517000 239 125 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41229062 41229062 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:41229062C>T uc001zng.2 + 8 2213 c.1877C>T c.(1876-1878)aCc>aTc p.T626I NM_019074 NP_061947 Q9NR61 DLL4_HUMAN Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA. 626 Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation integral to membrane|plasma membrane Notch binding|calcium ion binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGGCGGGGGACCATGCCAGGA 0.597000 29 21 0 0 1 0 0 GPR87 53836 broad.mit.edu 37 3 151012942 151012942 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:151012942C>T uc003eyt.2 - 2 453 c.92G>A c.(91-93)gGa>gAa p.G31E MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA. 31 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.P30S(1) endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTGTTCTTTCCTGGCCCGTC 0.483000 82 12 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105139465 105139465 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:105139465G>A uc004emd.3 + 6 832 c.529G>A c.(529-531)Gac>Aac p.D177N NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 177 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AATTCACCGGGACATCAAAGG 0.348000 HNSCC(51;0.14) 34 33 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099262 46099262 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:46099262G>A uc003gxb.3 - 1 361 c.209C>T c.(208-210)tCa>tTa p.S70L NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 70 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.S70L(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTGAAGCAATGAATTCAGAAT 0.383000 79 12 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43770451 43770451 + Silent SNP T G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:43770451T>G uc010skx.2 - 32 5001 c.5001A>C c.(4999-5001)tcA>tcC p.S1667S NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1667 TSP type-1 15. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CACAAGTCACTGAGCACTGTG 0.368000 47 36 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118981581 118981581 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:118981581C>T uc001pvn.3 + 3 954 c.595C>T c.(595-597)Cct>Tct p.P199S C2CD2L_uc001pvo.3_Missense_Mutation_p.P199S NM_014807 NP_055622 O14523 C2C2L_HUMAN Homo sapiens C2CD2-like (C2CD2L), mRNA. 199 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GGAGGAAATCCCTGGTGAGGG 0.552000 87 70 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97771850 97771850 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:97771850G>A uc001drv.3 - 16 2199 c.2062C>T c.(2062-2064)Cca>Tca p.P688S NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 688 '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) ACCAGCTCTGGATCCTGTTCA 0.433000 97 25 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834450 125834450 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:125834450G>A uc001uhe.1 + 1 513 c.505G>A c.(505-507)Gaa>Aaa p.E169K TMEM132B_uc021rgl.1_Missense_Mutation_p.E59K NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 169 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGAGGCCAGGGAAGTGGCAGC 0.592000 89 44 0 0 1 0 0 DEFA6 1671 broad.mit.edu 37 8 6782433 6782433 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:6782433G>A uc003wqt.3 - 1 251 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001926 NP_001917 Q01524 DEF6_HUMAN Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA. 70 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AATGGCAAGTGAAAGCCCTTG 0.493000 20 13 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17597610 17597610 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:17597610G>A uc001bai.3 + 8 1024 c.984G>A c.(982-984)agG>agA p.R328R NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 328 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) AGCTGGCCAGGAAGGCCGGCT 0.652000 24 19 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538458 55538458 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:55538458G>A uc003xsd.1 + 3 2164 c.2016G>A c.(2014-2016)aaG>aaA p.K672K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 672 Poly-Lys. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCAGCAAAAAGAAGAAAAAAT 0.333000 30 26 0 0 1 0 0 MTMR6 9107 broad.mit.edu 37 13 25832756 25832756 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:25832756C>T uc001uqf.4 - 6 1120 c.801G>A c.(799-801)caG>caA p.Q267Q MTMR6_uc001uqe.1_Silent_p.Q267Q|MTMR6_uc021rhi.1_Silent_p.Q61Q NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN Homo sapiens myotubularin related protein 6 (MTMR6), mRNA. 267 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTCCAACAAACTGAAATCTAA 0.318000 11 13 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012419 57012419 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:57012419C>T uc003pdm.1 + 9 1760 c.1536C>T c.(1534-1536)gtC>gtT p.V512V ZNF451_uc003pdl.3_Silent_p.V512V|ZNF451_uc003pdn.1_Silent_p.V512V|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.V512V NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA. 512 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) ATTCAGGGGTCATTCGTTTAC 0.408000 156 194 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81271619 81271619 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:81271619G>A uc002bfy.1 - 2 719 c.646C>T c.(646-648)Ctg>Ttg p.L216L MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Intron NM_015154 NP_055969 Q14696 MESD_HUMAN Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA. 216 Wnt receptor signaling pathway|mesoderm development|protein folding endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 CGAGATTTCAGATCTCCTTCC 0.498000 42 16 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78940988 78940988 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:78940988C>T uc010jae.1 + 8 1212 c.794C>T c.(793-795)cCa>cTa p.P265L PAPD4_uc003kgb.2_Missense_Mutation_p.P265L|PAPD4_uc010jaf.1_Missense_Mutation_p.P265L|PAPD4_uc003kga.2_Missense_Mutation_p.P261L|PAPD4_uc003kfz.2_Missense_Mutation_p.P265L NM_001114393 NP_776158 Q6PIY7 GLD2_HUMAN Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA. 265 RNA polyadenylation|histone mRNA catabolic process|mRNA processing cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) GCAAAAGTGCCAATTGTGAAG 0.343000 22 5 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20803445 20803445 + Missense_Mutation SNP C G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:20803445C>G uc010vba.2 + 10 1610 c.1535C>G c.(1534-1536)tCc>tGc p.S512C ACSM3_uc002dhr.3_Missense_Mutation_p.S483C|ERI2_uc002dhs.3_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA. 483 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 GTCATATTATCCTCTGGGTAA 0.403000 102 53 0 0 1 0 0 KIAA2013 90231 broad.mit.edu 37 1 11985529 11985529 + Missense_Mutation SNP T A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:11985529T>A uc001atl.2 - 0 957 c.766A>T c.(766-768)Act>Tct p.T256S KIAA2013_uc001atk.3_Missense_Mutation_p.T256S NM_138346 NP_612355 Q8IYS2 K2013_HUMAN Homo sapiens KIAA2013 (KIAA2013), mRNA. 256 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCAACCCAGTGGGCGTAGGC 0.657000 11 14 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53453062 53453062 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:53453062G>A uc001sbp.3 + 17 1772 c.1637G>A c.(1636-1638)gGa>gAa p.G546E TENC1_uc001sbl.3_Missense_Mutation_p.G422E|TENC1_uc001sbn.3_Missense_Mutation_p.G556E|TENC1_uc001sbq.3_Missense_Mutation_p.G41E|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Missense_Mutation_p.G41E NM_170754 NP_938072 Q63HR2 TENC1_HUMAN Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA. 546 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CGCCTCCTAGGAGGCTGCGGA 0.701000 11 5 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089626 86089626 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:86089626G>A uc021rxf.1 + 0 1768 c.1768G>A c.(1768-1770)Gag>Aag p.E590K FLRT2_uc001xvr.3_Missense_Mutation_p.E590K|FLRT2_uc010atd.3_Missense_Mutation_p.E590K NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 590 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGATTATTGCGAGGCAGGCAC 0.488000 164 32 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48142308 48142308 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:48142308C>T uc001rpz.4 - 11 1722 c.1172G>A c.(1171-1173)gGc>gAc p.G391D RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.G349D|RAPGEF3_uc009zkq.3_Missense_Mutation_p.G349D|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.G403D NM_001098531 NP_006096 A8K2G5 A8K2G5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA. 349 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CTCTGGGGTGCCAGACATCAC 0.517000 21 11 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343714 248343714 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248343714C>T uc010pzf.2 + 0 427 c.427C>T c.(427-429)Ctt>Ttt p.L143F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G142*(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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;0.0245) AATTTGTGGACTTATGGCTAC 0.428000 150 268 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140183220 140183220 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140183220C>T uc011czz.2 + 0 2438 c.2438C>T c.(2437-2439)tCa>tTa p.S813L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc011czy.2_Intron NM_031497 NP_113685 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 2, mRNA. 0 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) CTTTGTTTTTCATTCCTCAAT 0.338000 25 8 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40318449 40318449 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40318449G>A uc002hzb.2 - 9 2039 c.1706C>T c.(1705-1707)tCg>tTg p.S569L NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 569 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GATGTGCAGCGATAGGGCCCG 0.627000 36 9 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38939031 38939031 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:38939031C>T uc002oit.3 + 9 967 c.837C>T c.(835-837)ctC>ctT p.L279L RYR1_uc002oiu.3_Silent_p.L279L NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 279 MIR 4. 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) GCCAGCCACTCCGAGTCCGGC 0.642000 123 41 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67265011 67265011 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:67265011G>A uc001olx.3 - 11 2111 c.1922C>T c.(1921-1923)cCc>cTc p.P641L PITPNM1_uc001olw.3_5'UTR|PITPNM1_uc001oly.3_Missense_Mutation_p.P641L|PITPNM1_uc001olz.3_Missense_Mutation_p.P641L NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 641 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity p.P641_S644delPEGS(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGAGCCCTCGGGCTCAGGACT 0.672000 196 6 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142750298 142750298 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:142750298C>T uc011ksv.2 + 0 861 c.861C>T c.(859-861)atC>atT p.I287I NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) ATCCCTTTATCCTTACCTTCT 0.522000 47 34 0 0 1 0 0 SH3BP1 23616 broad.mit.edu 37 22 38039157 38039157 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:38039157C>T uc003ati.3 + 5 1187 c.449C>T c.(448-450)tCc>tTc p.S150F SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.S150F|SH3BP1_uc003ath.1_Missense_Mutation_p.S150F|SH3BP1_uc003atj.1_Missense_Mutation_p.S86F|SH3BP1_uc003atk.1_Missense_Mutation_p.S64F|AK097791_uc003atl.1_Intron NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA. 150 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) AAGCTCGTGTCCGACTGGAAC 0.617000 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 5 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157685 26157685 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:26157685C>T uc022bub.1 + 0 583 c.583C>T c.(583-585)Ccc>Tcc p.P195S MAGEB18_uc004dbq.2_Missense_Mutation_p.P195S NM_173699 NP_775970 Q96M61 MAGBI_HUMAN Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA. 195 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AGAAAAAATTCCCAAGACTGG 0.443000 7 8 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16485145 16485145 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:16485145G>A uc002wpg.2 - 9 1207 c.1048C>T c.(1048-1050)Cgc>Tgc p.R350C KIF16B_uc010gch.2_Missense_Mutation_p.R350C|KIF16B_uc010gci.2_Missense_Mutation_p.R350C|KIF16B_uc010gcj.2_Missense_Mutation_p.R350C NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 350 Kinesin-motor. Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTGCATAGCGAAGAGTACTT 0.398000 82 62 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28855288 28855288 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:28855288G>A uc002drh.2 - 7 1196 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_Non-coding_Transcript|SH2B1_uc002dri.3_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA. 350 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 TCCACCTTCTGGTGGGGCTTG 0.662000 33 17 0 0 1 0 0 TWISTNB 221830 broad.mit.edu 37 7 19739776 19739776 + Missense_Mutation SNP T A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:19739776T>A uc003sup.1 - 2 545 c.524A>T c.(523-525)gAt>gTt p.D175V NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN Homo sapiens TWIST neighbor (TWISTNB), mRNA. 175 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 TTCTAGTTCATCACCCATGTT 0.408000 164 28 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244858 46244858 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:46244858C>T uc001ros.1 + 14 2952 c.2952C>T c.(2950-2952)gtC>gtT p.V984V ARID2_uc001ror.3_Silent_p.V984V|ARID2_uc009zkg.1_Silent_p.V440V|ARID2_uc009zkh.1_Silent_p.V611V|ARID2_uc001rou.1_Silent_p.V318V NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 984 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Q983*(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATAACCAAGTCCCTACTGCCA 0.488000 """N, S, F""" hepatocellular carcinoma 87 48 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077349 9077349 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9077349G>A uc002mkp.3 - 2 10301 c.10097C>T c.(10096-10098)tCc>tTc p.S3366F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3367 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 AAGGATATTGGAAGATGTGCT 0.468000 165 58 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894130 10894130 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:10894130G>A uc003mzo.3 + 2 405 c.109G>A c.(109-111)Gat>Aat p.D37N SYCP2L_uc011dim.1_Non-coding_Transcript NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 37 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TGCATTCCATGATAAAGGATT 0.303000 24 10 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95022258 95022258 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:95022258C>T uc002btj.3 + 21 2697 c.2632C>T c.(2632-2634)Ctc>Ttc p.L878F MCTP2_uc010boj.3_Missense_Mutation_p.L607F|MCTP2_uc010bok.3_Missense_Mutation_p.L823F|MCTP2_uc002btl.3_Missense_Mutation_p.L466F NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 878 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GCGCAGCGCTCTCTAGGGCAC 0.517000 29 12 0 0 1 0 0 HTR3D 200909 broad.mit.edu 37 3 183756374 183756374 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:183756374G>A uc011bqv.2 + 6 1097 c.1097G>A c.(1096-1098)gGa>gAa p.G366E HTR3D_uc003fmj.3_Missense_Mutation_p.G191E|HTR3D_uc011bqu.2_Missense_Mutation_p.G316E|HTR3D_uc010hxp.3_Missense_Mutation_p.G145E NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA. 366 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CCCCAGAAGGGAAATAAGGGC 0.657000 32 12 0 0 1 0 0 SNRNP40 9410 broad.mit.edu 37 1 31769575 31769575 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:31769575C>T uc010oge.2 - 0 70 c.24G>A c.(22-24)aaG>aaA p.K8K SNRNP40_uc001bso.3_Silent_p.K8K|ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc010ogf.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank NM_004814 NP_004805 Q96DI7 SNR40_HUMAN Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA. 8 U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 ACTCTGGGCCCTTACGCTTCT 0.652000 42 40 0 0 1 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149006 142149006 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:142149006G>A uc010lnw.1 - 1 347 c.265C>T c.(265-267)Cct>Tct p.P89S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; CTATAGTTAGGGAACTGGCGA 0.527000 132 72 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42808403 42808403 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:42808403C>T uc011cps.2 - 2 241 c.143G>A c.(142-144)gGa>gAa p.G48E SEPP1_uc011cpt.2_Missense_Mutation_p.G18E|SEPP1_uc011cpu.2_Missense_Mutation_p.G18E|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 18 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 GCTCTCTGTTCCTCCCGATGG 0.512000 13 40 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39330257 39330257 + Missense_Mutation SNP G C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:39330257G>C uc003oot.2 - 16 1994 c.1899C>G c.(1897-1899)gaC>gaG p.D633E KIF6_uc003oos.2_Missense_Mutation_p.D84E|KIF6_uc010jwz.1_Missense_Mutation_p.D8E|KIF6_uc010jxa.1_Missense_Mutation_p.D424E|KIF6_uc011dua.1_Missense_Mutation_p.D616E|KIF6_uc010jxb.1_Missense_Mutation_p.D577E NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 633 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CCTCCTGCTGGTCTGGCATCA 0.522000 OREG0017415 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 35 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127730894 127730894 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:127730894C>T uc003kuu.3 - 8 1591 c.1152G>A c.(1150-1152)acG>acA p.T384T FBN2_uc003kuv.2_Silent_p.T351T NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 384 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.M383K(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACTGCATTTTCGTCATTCTCC 0.547000 24 21 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614067 3614067 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:3614067C>T uc010btn.3 - 4 1282 c.871G>A c.(871-873)Gag>Aag p.E291K NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 291 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATCTCCTCCTCGTTAAAGCCC 0.607000 56 32 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117683900 117683900 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:117683900C>T uc003pxp.1 - 20 3446 c.3247G>A c.(3247-3249)Gaa>Aaa p.E1083K 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. 1083 Fibronectin type-III 5. 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) TAGAAAATTTCAAATTTTGTT 0.338000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 45 15 0 0 1 0 0 MKNK1 8569 broad.mit.edu 37 1 47048920 47048920 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:47048920G>A uc001cqb.3 - 2 360 c.116C>T c.(115-117)tCc>tTc p.S39F MKNK1_uc010omd.2_5'UTR|MKNK1_uc001cqc.3_Missense_Mutation_p.S39F|MKNK1_uc009vyi.3_Missense_Mutation_p.S39F|MKNK1_uc010ome.2_5'UTR|MKNK1_uc009vyj.3_Missense_Mutation_p.P17S|MKNK1_uc001cqd.2_Missense_Mutation_p.S27F|MKNK1_uc010omf.1_Missense_Mutation_p.S39F NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA. 39 intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) TCCTGGCAAGGAGTCAGTGGC 0.572000 131 27 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74771214 74771214 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:74771214C>T uc002jta.2 + 11 1983 c.1010C>T c.(1009-1011)cCt>cTt p.P337L MFSD11_uc002jtd.4_Missense_Mutation_p.P337L|MFSD11_uc002jtb.3_Missense_Mutation_p.P337L|MFSD11_uc002jtc.3_Missense_Mutation_p.P337L|MFSD11_uc002jte.3_Missense_Mutation_p.P337L|MFSD11_uc010dhb.3_Missense_Mutation_p.P285L|MFSD11_uc010dha.3_Missense_Mutation_p.P285L NM_001242534 NP_001229463 O43934 MFS11_HUMAN Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA. 337 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 CCGATTGCTCCTGTTAAAGGA 0.463000 57 35 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48271757 48271757 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:48271757G>A uc002iqm.3 - 22 1693 c.1567C>T c.(1567-1569)Cct>Tct p.P523S NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 523 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCTTCACCAGGAGATCCTTTG 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 96 61 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51747199 51747199 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:51747199C>T uc010hlv.3 + 2 1400 c.1161C>T c.(1159-1161)gcC>gcT p.A387A GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 387 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CAGTGTACGCCATGGCCCATG 0.632000 31 32 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476315 140476315 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140476315G>A uc003lil.3 + 0 2079 c.1941G>A c.(1939-1941)aaG>aaA p.K647K PCDHB2_uc003lim.1_Silent_p.K308K NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 647 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTGGTCAAGGACAATGGCG 0.716000 82 21 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91182039 91182039 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:91182039C>T uc002bpp.3 + 12 1646 c.1540C>T c.(1540-1542)Cct>Tct p.P514S CRTC3_uc002bpo.3_Missense_Mutation_p.P514S NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA. 514 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CCCTGCCTTTCCTCAACAGGT 0.493000 T MAML2 salivary gland mucoepidermoid 34 10 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120263838 120263838 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:120263838G>A uc001ehz.3 + 1 411 c.184G>A c.(184-186)Gat>Aat p.D62N PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR|PHGDH_uc001eib.3_Missense_Mutation_p.D28N NM_006623 NP_006614 O43175 SERA_HUMAN Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA. 62 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) GGTGACCGCTGATGTCATCAA 0.522000 104 26 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110838762 110838762 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:110838762G>A uc001vqw.4 - 25 1989 c.1867C>T c.(1867-1869)Cct>Tct p.P623S NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 623 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) GGGCCTCCAGGAAAGCCTGCT 0.607000 74 120 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179552868 179552868 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179552868C>T uc021vsy.1 - 123 28774 c.28549G>A c.(28549-28551)Gag>Aag p.E9517K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6178K|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10444 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) GCTTCTTCCTCCTCCTCTCTT 0.388000 82 27 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3224645 3224645 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:3224645G>A uc022aqr.1 - 19 3414 c.3024C>T c.(3022-3024)atC>atT p.I1008I CSMD1_uc011kwj.2_Silent_p.I401I|CSMD1_uc003wqe.3_Silent_p.I165I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1009 CUB 6. 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) GGCCTGCCTTGATCGTATGAG 0.478000 15 3 0 0 1 0 0 GBP3 2635 broad.mit.edu 37 1 89478911 89478911 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:89478911G>A uc001dmt.3 - 5 1030 c.825C>T c.(823-825)tcC>tcT p.S275S GBP3_uc010oss.2_Silent_p.S196S|GBP3_uc001dmu.3_Silent_p.S141S|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Silent_p.S275S NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN Homo sapiens guanylate binding protein 3 (GBP3), mRNA. 275 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TTTTAGTTTTGGAATTGCTAA 0.448000 99 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179407408 179407408 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179407408G>A uc021vsy.1 - 296 89694 c.89469C>T c.(89467-89469)acC>acT p.T29823T MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T23518T|TTN_uc021vta.1_Silent_p.T23451T|TTN_uc021vtb.1_Silent_p.T23326T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30750 Fibronectin type-III 117. 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) TAACTTTAATGGTTTCTGAAG 0.338000 141 83 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862683 23862683 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:23862683G>A uc001wjv.3 - 22 3044 c.2973C>T c.(2971-2973)atC>atT p.I991I NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 991 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) TCAGCTTAGCGATGATTTCAT 0.522000 90 83 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204844 9204844 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9204844G>A uc010xkj.2 + 0 924 c.924G>A c.(922-924)aaG>aaA p.K308K NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA. 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K308N(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TCAACAGAAAGATCACCTCAT 0.498000 39 10 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21120418 21120418 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:21120418G>A uc001iqi.3 - 14 1941 c.1544C>T c.(1543-1545)tCc>tTc p.S515F NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 515 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGCCATCTCGGATGCTTTCTT 0.428000 18 23 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916059 86916059 + Missense_Mutation SNP C T T rs149783359 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:86916059C>T uc003hpk.3 + 8 1701 c.1252C>T c.(1252-1254)Ctc>Ttc p.L418F ARHGAP24_uc003hpl.3_Missense_Mutation_p.L323F|ARHGAP24_uc010ikf.3_Missense_Mutation_p.L333F|ARHGAP24_uc003hpm.3_Missense_Mutation_p.L325F NM_001025616 NP_001036134 Q8N264 RHG24_HUMAN Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA. 418 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAGCCCCCCTCTCATGGTCAA 0.473000 146 77 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34640796 34640796 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:34640796C>T uc010ucc.2 + 2 1109 c.727C>T c.(727-729)Cgt>Tgt p.R243C C15orf55_uc010ucd.2_Missense_Mutation_p.R233C|C15orf55_uc001zif.3_Missense_Mutation_p.R215C NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 215 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TGAGAACTTCCGTCAGTGGCA 0.542000 T """BRD3, BRD4""" lethal midline carcinoma 71 24 0 0 1 0 0 LOC440563 440563 broad.mit.edu 37 1 13183499 13183499 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:13183499C>T uc010obg.2 - 1 617 c.374G>A c.(373-375)aGt>aAt p.S125N NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 125 ribonucleoprotein complex nucleic acid binding|nucleotide binding TGCTGGGAAACTGTACATCCC 0.522000 105 14 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25174578 25174578 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:25174578G>A uc003xeg.3 + 13 1511 c.1374G>A c.(1372-1374)ggG>ggA p.G458G DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.G172G|DOCK5_uc003xei.3_Silent_p.G28G NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 458 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTGACAAAGGGAAGAAGAAGA 0.507000 110 31 0 0 1 0 0 ZMYND11 10771 broad.mit.edu 37 10 226028 226028 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:226028C>T uc010pzu.2 + 1 417 c.76C>T c.(76-78)Cgg>Tgg p.R26W ZMYND11_uc001ifk.3_Missense_Mutation_p.R26W|ZMYND11_uc010pzv.2_Missense_Mutation_p.R26W|ZMYND11_uc010pzw.2_Missense_Mutation_p.R26W|ZMYND11_uc001ifm.3_Missense_Mutation_p.R26W|ZMYND11_uc010pzx.2_Missense_Mutation_p.R26W|ZMYND11_uc001ifn.3_Missense_Mutation_p.R26W|ZMYND11_uc009xhg.3_5'UTR NM_006624 NP_006615 Q15326 ZMY11_HUMAN Homo sapiens zinc finger, MYND-type containing 11 (ZMYND11), transcript variant 1, mRNA. 486 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGAGATTATACGGAACCAGAA 0.403000 61 3 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177316 153177316 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:153177316G>A uc001fbl.3 + 1 243 c.133G>A c.(133-135)Gaa>Aaa p.E45K LELP1_uc021ozv.1_Missense_Mutation_p.E45K NM_001010857 NP_001010857 Q5T871 LELP1_HUMAN Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA. 45 Cys/Pro-rich. p.F44F(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACGCTGTTTCGAAAAGTGCCC 0.572000 77 125 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123489977 123489977 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:123489977G>A uc001uej.1 - 5 961 c.762C>T c.(760-762)tcC>tcT p.S254S PITPNM2_uc001uek.1_Silent_p.S254S|PITPNM2_uc009zxu.1_Silent_p.S254S NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 254 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) CCATCTTACGGGAAAGCATGA 0.632000 181 39 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483591 19483591 + Silent SNP G T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:19483591G>T uc003jgd.3 - 11 2235 c.1701C>A c.(1699-1701)ccC>ccA p.P567P CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.P567P|CDH18_uc021xwu.1_Intron NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 567 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGATCATAATGGGCAGATAAT 0.488000 40 9 2.74318e-10 2.79391e-10 1 1 0 APLP1 333 broad.mit.edu 37 19 36369813 36369813 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:36369813G>A uc002oce.3 + 14 1807 c.1669G>A c.(1669-1671)Ggt>Agt p.G557S APLP1_uc010xsz.2_Missense_Mutation_p.G518S|APLP1_uc002ocf.3_Missense_Mutation_p.G558S|APLP1_uc002ocg.3_Missense_Mutation_p.G461S|APLP1_uc010xta.2_Missense_Mutation_p.G551S NM_005166 NP_005157 P51693 APLP1_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA. 557 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding p.R557S(1) breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGTTCCAAGGGGTTTCCCTTT 0.602000 71 52 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25923937 25923937 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:25923937C>T uc011dkb.2 - 1 309 c.226G>A c.(226-228)Gaa>Aaa p.E76K SLC17A2_uc011dkc.2_Missense_Mutation_p.E76K|SLC17A2_uc003nfl.3_Missense_Mutation_p.E76K O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 76 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GTATCAAATTCCTTGATGGAT 0.433000 80 82 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212391 26212391 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:26212391C>T uc022buc.1 + 0 428 c.428C>T c.(427-429)tCc>tTc p.S143F MAGEB6_uc004dbr.3_Missense_Mutation_p.S143F NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 143 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CATGATGTCTCCGTTCCTCAG 0.527000 33 43 0 0 1 0 0 FAM98C 147965 broad.mit.edu 37 19 38899451 38899451 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:38899451C>T uc002oin.1 + 7 998 c.979C>T c.(979-981)Ccc>Tcc p.P327S FAM98C_uc002oio.1_Missense_Mutation_p.P245S|FAM98C_uc010xtz.1_3'UTR NM_174905 NP_777565 Q17RN3 FA98C_HUMAN Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA. 327 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCCTCCCATGCCCACCTGGAG 0.577000 58 39 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375261 101375261 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:101375261C>T uc001pgk.4 - 1 864 c.439G>A c.(439-441)Gaa>Aaa p.E147K TRPC6_uc009ywy.3_Missense_Mutation_p.E147K|TRPC6_uc009ywz.1_Missense_Mutation_p.E147K NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 147 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCTGTAATTTCCAGATGCTCA 0.443000 29 27 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47538834 47538834 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:47538834C>T uc003gxk.1 + 8 1439 c.1275C>T c.(1273-1275)atC>atT p.I425I ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Silent_p.I410I NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 425 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 CCCTGAACATCGCCGAGGATC 0.408000 16 5 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105393510 105393510 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:105393510G>A uc003yly.4 - 8 1605 c.1476C>T c.(1474-1476)ccC>ccT p.P492P DPYS_uc010mcf.1_Silent_p.P62P NM_001385 NP_001376 Q14117 DPYS_HUMAN Homo sapiens dihydropyrimidinase (DPYS), mRNA. 492 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTCCCTTATAGGGTGCACGCT 0.488000 39 68 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304459 10304459 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10304459C>T uc002gmm.2 - 24 3253 c.3158G>A c.(3157-3159)aGa>aAa p.R1053K AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1053 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCGCTTTGCTCTTTCTAGATC 0.348000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 53 17 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321216 56321216 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:56321216G>A uc010ygf.2 - 4 1471 c.760C>T c.(760-762)Ccc>Tcc p.P254S NLRP11_uc002qlz.3_Missense_Mutation_p.P155S|NLRP11_uc002qmb.3_Missense_Mutation_p.P155S|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. 254 NACHT. ATP binding p.P254S(2) 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) ACTGGAATGGGAACTTTCTGG 0.448000 34 30 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58147080 58147080 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:58147080G>A uc002iyk.1 - 6 948 c.931C>T c.(931-933)Cca>Tca p.P311S HEATR6_uc010wos.1_Missense_Mutation_p.P143S NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 311 binding p.R310*(1) NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) ACCAAAGTTGGTCGAGAAGCA 0.383000 45 30 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14976520 14976520 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:14976520C>T uc002dcv.3 + 25 3163 c.3097C>T c.(3097-3099)Cat>Tat p.H1033Y NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 1033 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GCTCCCCCACCATAGGGTGAT 0.577000 141 48 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70546218 70546218 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:70546218C>T uc002ezc.3 - 4 673 c.662G>A c.(661-663)cGc>cAc p.R221H COG4_uc002ezd.3_Missense_Mutation_p.R221H|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA. 217 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) CTTGAAGAAGCGCTCCACCTG 0.512000 40 21 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219875560 219875560 + Nonsense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:219875560C>T uc002vjl.1 - 24 4200 c.4116G>A c.(4114-4116)tgG>tgA p.W1372* NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 1372 integral to membrane structural molecule activity p.W1372C(2) 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) GTGAGAAGATCCACAAGACCC 0.567000 16 12 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101728986 101728986 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:101728986G>A uc001kqj.2 - 2 246 c.154C>T c.(154-156)Ccc>Tcc p.P52S NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 52 SH3 1. intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AAACTGCTGGGGAATTGTCCT 0.373000 15 14 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53741668 53741668 + Silent SNP A C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:53741668A>C uc002qbg.1 - 4 463 c.312T>G c.(310-312)ccT>ccG p.P104P ZNF677_uc002qbf.1_Silent_p.P104P NM_182609 NP_872415 Q86XU0 ZN677_HUMAN Homo sapiens zinc finger protein 677 (ZNF677), mRNA. 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TGTCAAACTTAGGCATATTTT 0.343000 47 24 0 0 1 0 0 SPRY4 81848 broad.mit.edu 37 5 141694699 141694699 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:141694699G>A uc010jgi.1 - 2 285 c.44C>T c.(43-45)tCc>tTc p.S15F SPRY4_uc003lml.2_5'UTR|SPRY4_uc021yet.1_5'Flank NM_030964 NP_001120968 Q9C004 SPY4_HUMAN Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA. 0 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACTGTACGGAGAAACAGGC 0.612000 Testicular Cancer, Familial Clustering of 22 11 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44762800 44762800 + Missense_Mutation SNP T G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:44762800T>G uc011baa.2 + 3 746 c.491T>G c.(490-492)tTt>tGt p.F164C ZNF502_uc003cns.3_Missense_Mutation_p.F164C|ZNF502_uc011bab.2_Missense_Mutation_p.F164C|ZNF502_uc003cnt.3_Missense_Mutation_p.F164C NM_001134440 NP_149987 Q8TBZ5 ZN502_HUMAN Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA. 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GGAAAAACCTTTACTCAGAGC 0.388000 131 14 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077849 79077849 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:79077849C>T uc002jzg.2 + 8 1115 c.1007C>T c.(1006-1008)tCc>tTc p.S336F BAIAP2_uc002jyz.4_Missense_Mutation_p.S336F|BAIAP2_uc002jza.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzc.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzb.2_Missense_Mutation_p.S93F|BAIAP2_uc010wuh.1_Missense_Mutation_p.S258F|BAIAP2_uc002jzd.2_Missense_Mutation_p.S336F|BAIAP2_uc002jzf.2_Missense_Mutation_p.S336F|BAIAP2_uc002jze.2_Missense_Mutation_p.S369F|BAIAP2_uc002jzh.2_Missense_Mutation_p.S337F|BAIAP2_uc010wui.2_Missense_Mutation_p.S199F NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA. 336 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CTCAGCGACTCCTACTCCAAC 0.637000 77 21 0 0 1 0 0 TPTE2P3 220115 broad.mit.edu 37 13 53096784 53096784 + RNA SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:53096784C>T uc001vgw.3 + 10 c.1161C>T Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA. TTGGAGTTTTCCTGATCTTGT 0.318000 5 11 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784955 9784955 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:9784955C>T uc003gmb.4 + 0 1698 c.1302C>T c.(1300-1302)ttC>ttT p.F434F NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 434 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AGGGTCCTTTCGATCGCATGT 0.557000 73 7 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1656958 1656958 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:1656958G>A uc021xkk.1 - 3 827 c.629C>T c.(628-630)tCc>tTc p.S210F FAM53A_uc010ibw.3_Missense_Mutation_p.S210F|FAM53A_uc021xkl.1_Missense_Mutation_p.S210F NM_001013622 NP_001167541 Q6NSI3 FA53A_HUMAN Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA. 210 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) GGACTCCGCGGAACACCAGAG 0.761000 10 3 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100841659 100841659 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:100841659C>T uc003pqj.4 - 9 1741 c.1274G>A c.(1273-1275)aGg>aAg p.R425K SIM1_uc021zdg.1_Missense_Mutation_p.R425K|SIM1_uc010kcu.3_Missense_Mutation_p.R425K NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 425 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.D424N(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGAGCCAGGCCTATCGGCGGG 0.597000 51 10 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114469560 114469560 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:114469560G>A uc003kqs.3 - 7 2040 c.1531C>T c.(1531-1533)Cca>Tca p.P511S TRIM36_uc011cwc.2_Missense_Mutation_p.P499S|TRIM36_uc003kqt.3_Missense_Mutation_p.P356S NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 511 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ACCATACCTGGAGCTGGAGGA 0.393000 29 4 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220309595 220309595 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:220309595C>T uc010fwg.3 + 2 527 c.527C>T c.(526-528)tCc>tTc p.S176F SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 176 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCCCGACCTCCGTGACAGGC 0.672000 114 30 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114214 117114214 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:117114214C>T uc003pxj.1 - 5 1894 c.1872G>A c.(1870-1872)gtG>gtA p.V624V GPRC6A_uc003pxk.1_Silent_p.V449V|GPRC6A_uc003pxl.1_Silent_p.V553V NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 624 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CGGATGATTTCACAACAGGTG 0.428000 53 31 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157396 22157396 + Missense_Mutation SNP C G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:22157396C>G uc021urr.1 - 3 589 c.440G>C c.(439-441)cGt>cCt p.R147P ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ATATTTGCCACGTTGAAATAC 0.328000 86 4 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83126513 83126513 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:83126513C>T uc004eei.1 + 2 133 c.112C>T c.(112-114)Ccc>Tcc p.P38S CYLC1_uc004eeh.1_Missense_Mutation_p.P37S NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 38 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 TTTGACATTTCCCAAACCACT 0.299000 13 20 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94156489 94156489 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:94156489C>T uc001ybv.1 + 43 6847 c.6764C>T c.(6763-6765)tCc>tTc p.S2255F UNC79_uc001ybs.1_Missense_Mutation_p.S2233F NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2410 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GAGTGTGTCTCCCATATCCGA 0.453000 48 27 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686266 108686266 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:108686266C>T uc009zuw.3 - 2 665 c.474G>A c.(472-474)atG>atA p.M158I CMKLR1_uc001tmw.3_Missense_Mutation_p.M158I|CMKLR1_uc001tmv.3_Missense_Mutation_p.M156I|CMKLR1_uc009zuv.3_Missense_Mutation_p.M158I|CMKLR1_uc021rdj.1_Missense_Mutation_p.M156I NM_001142345 NP_004063 Q99788 CML1_HUMAN Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA. 158 chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 CCATGCAGGCCATGTAAGCCA 0.567000 72 24 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 79639029 79639029 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:79639029C>T uc003dqe.2 - 1 241 c.33G>A c.(31-33)atG>atA p.M11I NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 11 Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGAGTGATATCATGACCAAAA 0.408000 58 63 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58207172 58207172 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:58207172G>A uc010rkh.2 - 0 475 c.453C>T c.(451-453)ttC>ttT p.F151F NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATGCATTCAGGAAACCACAGA 0.463000 34 25 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55961115 55961115 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:55961115C>T uc003has.3 - 20 3127 c.2825G>A c.(2824-2826)gGg>gAg p.G942E KDR_uc003hat.1_Missense_Mutation_p.G942E NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 942 Protein kinase. 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) GAATCGTGCCCCTTTGGTCTA 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 53 10 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616137 248616137 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:248616137C>T uc001iek.1 + 0 39 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F13V(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCACTAACTTCGTCCTCACAG 0.507000 56 60 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137206693 137206693 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:137206693G>A uc003vtt.3 - 20 2168 c.2167C>T c.(2167-2169)Cgt>Tgt p.R723C DGKI_uc003vtu.3_Missense_Mutation_p.R423C NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATCCTCAGACGATCTGGGACA 0.463000 14 16 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36724045 36724045 + Nonsense_Mutation SNP T A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:36724045T>A uc003omr.1 - 12 953 c.886A>T c.(886-888)Aag>Tag p.K296* CPNE5_uc003omp.1_Nonsense_Mutation_p.K4*|CPNE5_uc010jwn.1_5'UTR|CPNE5_uc003omq.1_5'UTR NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN Homo sapiens copine V (CPNE5), mRNA. 296 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 ACGTATTTCTTTTTCTTCATT 0.517000 17 6 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3594308 3594308 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:3594308C>T uc010btn.3 - 16 3201 c.2790G>A c.(2788-2790)ggG>ggA p.G930G NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 931 I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCCGTCATCCCCGATGGCGT 0.592000 36 13 0 0 1 0 0 CNN3 1266 broad.mit.edu 37 1 95363557 95363557 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:95363557G>A uc001dqz.4 - 6 1016 c.731C>T c.(730-732)tCc>tTc p.S244F CNN3_uc010otv.2_Missense_Mutation_p.S203F|CNN3_uc010otx.2_Missense_Mutation_p.S198F NM_001839 NP_001830 Q15417 CNN3_HUMAN Homo sapiens calponin 3, acidic (CNN3), mRNA. 244 actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2) 18 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) CATCTGTAGGGAAATTGTCGA 0.463000 90 56 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353089 113353089 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:113353089G>A uc003ian.4 + 10 2613 c.2386G>A c.(2386-2388)Gaa>Aaa p.E796K ALPK1_uc003iap.4_Missense_Mutation_p.E796K|ALPK1_uc011cfx.2_Missense_Mutation_p.E718K|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.E624K NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 796 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AGAAAGCACTGAAGATGCACC 0.483000 45 9 0 0 1 0 0 METTL7B 196410 broad.mit.edu 37 12 56075839 56075839 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:56075839C>T uc010spr.2 + 0 510 c.301C>T c.(301-303)Ccc>Tcc p.P101S NM_152637 NP_689850 Q6UX53 MET7B_HUMAN Homo sapiens methyltransferase like 7B (METTL7B), mRNA. 101 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 AGACCCAAATCCCCACTTTGA 0.582000 50 13 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6580149 6580149 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:6580149G>A uc003gjf.1 + 2 351 c.315G>A c.(313-315)ctG>ctA p.L105L MAN2B2_uc003gje.1_Silent_p.L105L|MAN2B2_uc011bwf.1_Silent_p.L105L NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA. 105 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 AAGGACGCCTGGAATTTGTCA 0.592000 12 24 0 0 1 0 0 CXCL13 10563 broad.mit.edu 37 4 78532168 78532168 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:78532168C>T uc003hkr.3 + 4 383 c.305C>T c.(304-306)cCa>cTa p.P102L NM_006419 NP_006410 O43927 CXL13_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA. 102 B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1) 4 CTACCAGTTCCAGTGTTTAAG 0.378000 53 40 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133844271 133844271 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:133844271G>A uc011ecs.2 + 17 2028 c.1712G>A c.(1711-1713)gGa>gAa p.G571E EYA4_uc011ecq.2_Missense_Mutation_p.G511E|EYA4_uc011ecr.2_Missense_Mutation_p.G517E|EYA4_uc003qec.4_Missense_Mutation_p.G565E|EYA4_uc003qed.4_Missense_Mutation_p.G565E|EYA4_uc003qee.4_Missense_Mutation_p.G542E|BC041459_uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 565 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) TATAGTTTAGGAGGTGCTTTC 0.383000 35 21 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204587926 204587926 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:204587926C>T uc021phy.1 - 0 1195 c.1195G>A c.(1195-1197)Gag>Aag p.E399K MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E399K|LRRN2_uc001hbf.1_Missense_Mutation_p.E399K|LRRN2_uc009xbf.1_Missense_Mutation_p.E399K|MDM4_uc001hbc.3_Intron NM_201630 NP_963924 O75325 LRRN2_HUMAN Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA. 399 LRRCT. cell adhesion integral to membrane receptor activity p.E399K(2) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCCGGAGGCTCCGCACACAGG 0.662000 67 124 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114824085 114824085 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:114824085G>A uc003ibq.1 - 1 2033 c.1145C>T c.(1144-1146)cCc>cTc p.P382L ARSJ_uc010imu.1_Missense_Mutation_p.P382L|ARSJ_uc010imv.1_Missense_Mutation_p.P210L NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN Homo sapiens arylsulfatase family, member J (ARSJ), mRNA. 382 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) AATGAGAGTGGGGTACCAGTC 0.498000 140 21 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124749841 124749841 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:124749841G>A uc001qbc.3 + 25 4124 c.3955G>A c.(3955-3957)Gat>Aat p.D1319N ROBO3_uc001qbd.2_Missense_Mutation_p.D244N|ROBO3_uc010sar.2_Missense_Mutation_p.D368N|ROBO3_uc001qbe.3_Missense_Mutation_p.D244N|ROBO3_uc001qbf.1_Missense_Mutation_p.D203N NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 1319 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GCTCCACCCAGATGGTAAGCA 0.672000 2 5 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77987611 77987611 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:77987611G>A uc001dhn.3 + 11 1748 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K AK5_uc001dho.3_Missense_Mutation_p.E445K NM_174858 NP_036225 Q9Y6K8 KAD5_HUMAN Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. 471 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 GAAGCAAGGGGAAGAGTTCGG 0.542000 21 14 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32221722 32221722 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:32221722G>A uc001btn.3 - 3 1070 c.716C>T c.(715-717)cCa>cTa p.P239L BAI2_uc010ogp.2_Missense_Mutation_p.P227L|BAI2_uc010ogq.2_Missense_Mutation_p.P239L|BAI2_uc001bto.3_Missense_Mutation_p.P239L|BAI2_uc001btq.1_Missense_Mutation_p.P227L|BAI2_uc010ogr.1_Missense_Mutation_p.P227L NM_001703 NP_001694 O60241 BAI2_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA. 239 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGGAGGGCCTGGAGATGTGGT 0.706000 36 24 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 32014353 32014353 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:32014353C>T uc003ale.3 + 32 4071 c.3678C>T c.(3676-3678)ccC>ccT p.P1226P SFI1_uc003alf.3_Silent_p.P1195P|SFI1_uc003alg.3_Silent_p.P1144P|SFI1_uc011alp.2_Silent_p.P1132P|SFI1_uc011alq.2_Silent_p.P1171P|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_Silent_p.P318P|SFI1_uc003alj.3_Silent_p.P360P NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 1226 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 AGCGCCAGCCCATTGGCGCCT 0.692000 38 12 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049444 23049444 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:23049444C>T uc003xda.3 - 9 1276 c.1170G>A c.(1168-1170)acG>acA p.T390T NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 390 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCTCATTTTTCGTGAGGTCCA 0.522000 40 29 0 0 1 0 0 RNASET2 8635 broad.mit.edu 37 6 167343184 167343184 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:167343184G>A uc003qve.3 - 8 1070 c.663C>T c.(661-663)tcC>tcT p.S221S RNASET2_uc003qvf.3_Silent_p.S129S NM_003730 NP_003721 O00584 RNT2_HUMAN Homo sapiens ribonuclease T2 (RNASET2), mRNA. 221 RNA catabolic process extracellular region RNA binding|ribonuclease T2 activity large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) CCTGCTTGGGGGACGGCTGCT 0.562000 151 110 0 0 1 0 0 NXPH3 11248 broad.mit.edu 37 17 47656441 47656441 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:47656441G>A uc002ipa.3 + 1 822 c.538G>A c.(538-540)Gag>Aag p.E180K NM_007225 NP_009156 O95157 NXPH3_HUMAN Homo sapiens neurexophilin 3 (NXPH3), mRNA. 180 V (Cys-rich). 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) GATGGAGTGGGAGAAGGTAGA 0.602000 106 36 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124335454 124335454 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:124335454C>T uc001uft.4 + 33 5793 c.5768C>T c.(5767-5769)tCc>tTc p.S1923F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1923 AAA 1 (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) CAGGAGATTTCCCTGGACTCC 0.632000 31 15 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133547743 133547743 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:133547743G>A uc002ttp.3 - 12 1319 c.945C>T c.(943-945)tgC>tgT p.C315C NCKAP5_uc002ttq.3_Silent_p.C315C NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 315 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CCAAGCCAGGGCATTTCAAGG 0.493000 18 8 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538936 55538936 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:55538936G>A uc003xsd.1 + 3 2642 c.2494G>A c.(2494-2496)Gat>Aat p.D832N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 832 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAAACCCAAAGATTTTTATGC 0.328000 69 5 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558091 149558091 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:149558091C>T uc010lpn.3 + 6 2034 c.1842C>T c.(1840-1842)atC>atT p.I614I NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 614 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AGAGGGAGATCCTGGAGGACG 0.587000 29 16 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64779312 64779313 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:64779312_64779313CC>TT uc002sdc.3 + 0 736_737 c.704_705CC>TT c.(703-705)gcc>gTT p.A235V AFTPH_uc002scz.3_Missense_Mutation_p.A235V|AFTPH_uc002sda.3_Missense_Mutation_p.A235V|AFTPH_uc002sdb.3_Missense_Mutation_p.A235V NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA. 235 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 GCAGATTTTGCCACATTTTCCA 0.356000 39 15 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86392944 86392944 + Missense_Mutation SNP G A A rs143666045 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:86392944G>A uc003ydk.2 + 6 889 c.709G>A c.(709-711)Gaa>Aaa p.E237K CA2_uc022axe.1_Non-coding_Transcript NM_000067 NP_000058 P00918 CAH2_HUMAN Homo sapiens carbonic anhydrase II (CA2), mRNA. 237 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GGGTGAACCCGAAGAACTGAT 0.398000 105 17 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28116278 28116278 + Missense_Mutation SNP A C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:28116278A>C uc001msc.2 - 2 577 c.395T>G c.(394-396)gTg>gGg p.V132G NM_031217 NP_112494 Q8NI77 KI18A_HUMAN Homo sapiens kinesin family member 18A (KIF18A), mRNA. 132 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TAGATACATCACTCCAGGTTC 0.403000 55 23 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138417858 138417858 + Missense_Mutation SNP T C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:138417858T>C uc011bmq.2 - 10 1661 c.1661A>G c.(1660-1662)gAa>gGa p.E554G PIK3CB_uc011bmn.2_Missense_Mutation_p.E66G|PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.E141G NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 554 PI3K helical. G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor 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 NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AAGATCCATTTCATTTTCACA 0.383000 62 36 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039935 31039935 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:31039935G>A uc002nsu.1 + 3 3547 c.3409G>A c.(3409-3411)Gga>Aga p.G1137R ZNF536_uc010edd.1_Missense_Mutation_p.G1137R NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGAGCCTGATGGAAAGGCCCA 0.517000 42 28 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828696 115828696 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:115828696C>T uc021osd.1 - 0 721 c.721G>A c.(721-723)Gcc>Acc p.A241T NGF_uc001efu.1_Missense_Mutation_p.A241T NM_002506 NP_002497 P01138 NGF_HUMAN Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA. 241 Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling Golgi lumen|endosome growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GCAGGTCAGGCTCTTCTCACA 0.552000 38 36 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67039259 67039259 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:67039259C>T uc002eqv.3 + 9 1381 c.1266C>T c.(1264-1266)ttC>ttT p.F422F CES4A_uc010vix.2_Silent_p.F426F|CES4A_uc002eqw.3_Silent_p.F399F|CES4A_uc010viy.2_Silent_p.F332F|CES4A_uc002eqx.3_Silent_p.F232F|CES4A_uc002eqy.3_Silent_p.F328F NM_001190201 NP_001177130 Q5XG92 EST4A_HUMAN Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA. 426 extracellular region carboxylesterase activity p.F399L(1) large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 ATGCCACTTTCGTGTATGCCA 0.532000 61 24 0 0 1 0 0 DYX1C1 161582 broad.mit.edu 37 15 55722941 55722941 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:55722941G>A uc002adc.3 - 9 1558 c.1190C>T c.(1189-1191)cCa>cTa p.P397L CCPG1_uc002acy.3_Intron|CCPG1_uc010ugh.1_Intron|CCPG1_uc010ugi.2_Intron|DYX1C1_uc002adb.3_Intron|DYX1C1_uc002add.3_Missense_Mutation_p.H362Y NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA. 397 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TTTGTTGGATGGATCAATCTT 0.299000 40 16 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33764077 33764077 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:33764077C>T uc002xbt.3 + 2 613 c.429C>T c.(427-429)ttC>ttT p.F143F EDEM2_uc010zuv.1_Intron NM_006404 NP_006395 Q9UNN8 EPCR_HUMAN Homo sapiens protein C receptor, endothelial (PROCR), mRNA. 143 antigen processing and presentation|blood coagulation|immune response MHC class I protein complex|integral to plasma membrane receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) TTGTGAGTTTCCGGCCGGAGA 0.602000 140 43 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28914146 28914146 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:28914146G>A uc002kwp.3 + 7 1198 c.986G>A c.(985-987)gGa>gAa p.G329E NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 329 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.G329*(1) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ACAAATGTGGGAATTTTAAAG 0.274000 44 9 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113421156 113421156 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:113421156G>A uc003ynu.3 - 32 5660 c.5501C>T c.(5500-5502)tCc>tTc p.S1834F CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Missense_Mutation_p.S1794F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1730F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1834 CUB 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACCTGAATGGGATCCTGAGAG 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 163 33 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149583589 149583589 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:149583589C>T uc003lrr.3 + 9 1691 c.1320C>T c.(1318-1320)atC>atT p.I440I NM_014228 NP_055043 Q99884 SC6A7_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA. 440 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TGGGGCTGATCCTCACCACTG 0.597000 14 9 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252580 124252580 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:124252580G>A uc010sai.2 - 0 660 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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) TAGTGACAATGAAAACATAAG 0.413000 49 50 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32074047 32074047 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:32074047C>T uc003jhl.3 + 17 3223 c.2835C>T c.(2833-2835)ctC>ctT p.L945L PDZD2_uc003jhm.3_Silent_p.L945L|PDZD2_uc011cnx.1_Silent_p.L771L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 945 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAGCCAGTCTCCCCGGAAGCC 0.592000 81 38 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95757660 95757660 + Splice_Site SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:95757660C>T uc003kls.2 - 5 783 c.544_splice c.e5-1 p.D182_splice PCSK1_uc021ybq.1_Splice_Site_p.D135_splice NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 182 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.D182N(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCCTCTGGATCCTAAAGAGAC 0.358000 33 25 0 0 1 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409901 19409901 + RNA SNP A G G rs61946303 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:19409901A>G uc010tcj.1 - 0 c.36209T>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. CTTGTCTTACAGAACTTATCT 0.348000 38 3 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58121392 58121392 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:58121392G>A uc002iyk.1 - 19 3095 c.3078C>T c.(3076-3078)gtC>gtT p.V1026V MIR4737_uc021uba.1_5'Flank|HEATR6_uc010ddk.1_Silent_p.V565V|HEATR6_uc010wos.1_Silent_p.V746V NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 1026 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TCTTCCCCGGGACGGAAAGGG 0.532000 116 29 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872992 36872992 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:36872992C>T uc003cgj.3 - 20 8198 c.7950G>A c.(7948-7950)atG>atA p.M2650I NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2650 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCAGTTCATCCATCTCATCCT 0.532000 18 6 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100204225 100204225 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100204225G>A uc003uvo.3 + 5 1110 c.912G>A c.(910-912)gaG>gaA p.E304E LOC100129845_uc011kjy.2_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA. 304 Cleavage. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AACCTCCGGAGAAAACAGAGG 0.597000 45 20 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 102998082 102998082 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:102998082C>T uc002tbw.4 + 5 778 c.628C>T c.(628-630)Cgc>Tgc p.R210C IL18R1_uc010ywd.2_Missense_Mutation_p.R55C|IL18R1_uc010fiy.3_Missense_Mutation_p.R210C|IL18R1_uc010ywc.2_Missense_Mutation_p.R210C NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 210 Ig-like C2-type 2. R -> H (in dbSNP:rs11465635). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ACTTCTAGATCGCAGTAATAT 0.328000 19 5 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182766492 182766492 + Splice_Site SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:182766492G>A uc002uoi.3 + 8 1035 c.713_splice c.e8-1 p.S238_splice SSFA2_uc002uoh.3_Splice_Site_p.S238_splice|SSFA2_uc002uoj.3_Splice_Site_p.S238_splice|SSFA2_uc002uok.3_Splice_Site|SSFA2_uc010zfo.2_Splice_Site_p.S85_splice|SSFA2_uc002uol.3_Splice_Site_p.S85_splice NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 238 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCTTTTGGTAGGCCGTTTTCG 0.318000 52 5 0 0 1 0 0 KAAG1 353219 broad.mit.edu 37 6 24358078 24358078 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:24358078G>A uc003ndz.1 + 0 948 c.211G>A c.(211-213)Gaa>Aaa p.E71K DCDC2_uc003ndx.3_5'UTR|DCDC2_uc003ndy.3_Intron NM_181337 NP_851854 Q9UBP8 KAAG1_HUMAN Homo sapiens kidney associated antigen 1 (KAAG1), mRNA. 71 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 ATCGCCTCCTGAAACGAACGA 0.657000 66 25 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095234 69095234 + Splice_Site SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:69095234C>T uc003hdw.4 - 8 823 c.687_splice c.e8-1 p.K229_splice NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 229 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AATTATTTTTCCTAGAGGACA 0.323000 37 5 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149544995 149544996 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:149544995_149544996CC>TT uc010lpn.3 + 3 605_606 c.413_414CC>TT c.(412-414)tcc>tTT p.S138F NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity p.R137Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AAGCCCCGGTCCATCCAGAAGT 0.559000 15 11 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126544706 126544706 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:126544706G>A uc003vlr.2 - 2 1070 c.759C>T c.(757-759)atC>atT p.I253I GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I253I|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 253 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTTCACGTGGGATTTTCTGTG 0.388000 HNSCC(24;0.065) 55 42 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642539 57642539 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57642539C>T uc002qny.3 + 3 2852 c.2496C>T c.(2494-2496)atC>atT p.I832I USP29_uc021vci.1_Silent_p.I832I NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 832 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.I832T(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCAGCCATATCGGGAGCTCCC 0.473000 43 9 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41145988 41145988 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:41145988C>T uc001zna.3 + 4 1026 c.822C>T c.(820-822)atC>atT p.I274I SPINT1_uc001znb.3_Silent_p.I274I|SPINT1_uc001znc.3_Silent_p.I274I|SPINT1_uc010ucs.2_Silent_p.I274I NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 274 BPTI/Kunitz inhibitor 1. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CGGAGCAGATCTGCAAGAGTT 0.562000 119 38 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40464578 40464578 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:40464578G>A uc003ckd.4 + 7 1161 c.1069G>A c.(1069-1071)Ggg>Agg p.G357R ENTPD3_uc010hhy.3_Missense_Mutation_p.G357R|ENTPD3-AS1_uc003cke.4_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA. 357 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TTCTTTTGATGGGGTTTATCA 0.403000 42 53 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79034487 79034487 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:79034487G>A uc003kgc.3 + 1 9971 c.9899G>A c.(9898-9900)gGt>gAt p.G3300D NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 3300 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAACAGAAAGGTGTTTATGGG 0.478000 108 30 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175742627 175742627 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:175742627G>A uc002uji.3 - 5 831 c.490C>T c.(490-492)Ctg>Ttg p.L164L CHN1_uc010zeq.2_Silent_p.L164L|CHN1_uc002ujj.3_Intron NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 164 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GTCTCTTTCAGGACTGGCATA 0.413000 T TAF15 extraskeletal myxoid chondrosarcoma 58 26 0 0 1 0 0 FAM182B 728882 broad.mit.edu 37 20 25848606 25848606 + RNA SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:25848606G>A uc002wvd.1 - 0 c.181C>T Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA. lung(1) 1 atcaccgtccgggcaggcctg 0.672000 10 4 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107506466 107506466 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:107506466C>T uc010rvs.2 + 5 799 c.395C>T c.(394-396)cCc>cTc p.P132L ELMOD1_uc001pjm.3_Missense_Mutation_p.P132L|ELMOD1_uc010rvt.2_Missense_Mutation_p.P126L NM_018712 NP_061182 Q8N336 ELMD1_HUMAN Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA. 132 phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) TCTGATAATCCCCAACATGAA 0.458000 21 4 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46996743 46996743 + Missense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:46996743C>A uc003oyt.3 - 1 254 c.55G>T c.(55-57)Ggt>Tgt p.G19C GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.G19C NM_153840 NP_722582 Q5T601 GP110_HUMAN Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA. 19 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 AGGAAGCCACCGTGGCCGTCA 0.512000 66 52 3.76343e-11 3.84945e-11 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10971013 10971013 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:10971013G>A uc003bvz.3 + 9 1393 c.1359G>A c.(1357-1359)gtG>gtA p.V453V NM_014229 NP_055044 P48066 S6A11_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA. 453 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.V453M(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TGGGCCTCGTGATGTTAACAG 0.582000 147 18 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19753283 19753283 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:19753283C>T uc002zqa.1 + 6 972 c.843C>T c.(841-843)atC>atT p.I281I TBX1_uc002zqb.3_Silent_p.I281I|TBX1_uc002zqc.3_Silent_p.I281I NM_080647 NP_542378 O43435 TBX1_HUMAN Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA. 281 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R280L(1) breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) CCCTGCAGATCACGCAGCTCA 0.647000 21 23 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22962274 22962274 + Missense_Mutation SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr15:22962274A>G uc001yus.3 + 18 2206 c.2102A>G c.(2101-2103)cAa>cGa p.Q701R CYFIP1_uc001yut.3_Missense_Mutation_p.Q701R|CYFIP1_uc010aya.1_Missense_Mutation_p.Q729R|CYFIP1_uc001yuu.3_Missense_Mutation_p.Q270R NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 701 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGTTTTGACCAATTTGTTTAC 0.343000 40 29 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116061163 116061163 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:116061163G>A uc001lbn.3 - 12 1793 c.1492C>T c.(1492-1494)Cgc>Tgc p.R498C AFAP1L2_uc001lbo.3_Missense_Mutation_p.R498C|AFAP1L2_uc010qse.2_Missense_Mutation_p.R551C|AFAP1L2_uc001lbp.3_Missense_Mutation_p.R526C|AFAP1L2_uc001lbr.1_Missense_Mutation_p.R498C|AFAP1L2_uc001lbm.3_Missense_Mutation_p.R20C|AFAP1L2_uc010qsd.2_Missense_Mutation_p.R64C|AFAP1L2_uc001lbq.1_Missense_Mutation_p.R20C NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA. 498 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 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) TCCTCCTGGCGGTCCTGGCTA 0.617000 19 22 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242690671 242690671 + Missense_Mutation SNP T A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:242690671T>A uc002wce.1 + 7 1181 c.1008T>A c.(1006-1008)ttT>ttA p.F336L D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.F202L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.3_Intron|D2HGDH_uc002wci.2_Missense_Mutation_p.F35L NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 336 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) AGAGTCCGTTTTACGTCCTCA 0.602000 86 20 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66430759 66430760 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:66430759_66430760GG>AA uc003dmx.3 - 18 3223_3224 c.3209_3210CC>TT c.(3208-3210)ccc>cTT p.P1070L SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.P690L|LRIG1_uc003dmw.3_Missense_Mutation_p.P736L|LRIG1_uc010hnz.3_Missense_Mutation_p.P786L|LRIG1_uc010hoa.3_Missense_Mutation_p.P1047L NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 1070 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCGTGGACTCGGGACTGGCGTC 0.554000 116 17 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14312829 14312829 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:14312829C>T uc010uza.2 + 7 822 c.667C>T c.(667-669)Cct>Tct p.P223S MKL2_uc002dcg.3_Missense_Mutation_p.P223S|MKL2_uc002dch.3_Missense_Mutation_p.P212S|MKL2_uc010uzb.2_Missense_Mutation_p.P172S NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA. 212 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 ATCGCCATCTCCTGTGACTAC 0.463000 48 4 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024698 16024698 + Silent SNP G A A rs149231661 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:16024698G>A uc002nbu.2 - 12 1455 c.1419C>T c.(1417-1419)ttC>ttT p.F473F CYP4F11_uc010eab.1_Missense_Mutation_p.R452C|CYP4F11_uc002nbt.2_Silent_p.F473F NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 473 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 CAGCCATGGCGAACGCCTGCC 0.612000 31 21 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551975 100551975 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:100551975C>T uc003uxl.1 + 0 1226 c.426C>T c.(424-426)atC>atT p.I142I MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; p.G142W(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CCACTATTATCATGTCCTCTT 0.413000 760 124 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39486953 39486953 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:39486953G>A uc003xni.3 + 6 638 c.583G>A c.(583-585)Gct>Act p.A195T ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.A195T NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 195 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGTGGAAAAAGCTTTGGTAAG 0.318000 17 6 0 0 1 0 0 PTRHD1 391356 broad.mit.edu 37 2 25016004 25016004 + Silent SNP C T T rs147683338 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:25016004C>T uc002rfm.3 - 0 248 c.243G>A c.(241-243)gtG>gtA p.V81V CENPO_uc002rfp.2_5'Flank|CENPO_uc002rfq.2_5'Flank NM_001013663 NP_001013685 Q6GMV3 PTRD1_HUMAN Homo sapiens peptidyl-tRNA hydrolase domain containing 1 (PTRHD1), mRNA. 81 translation aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1) 6 CCTCGAGGACCACTTTGCGCA 0.682000 31 17 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285497 16285497 + Silent SNP A G G TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:16285497A>G uc002gpx.3 + 1 414 c.276A>G c.(274-276)gaA>gaG p.E92E UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.E92E NM_018955 NP_061828 P0CG47 UBB_HUMAN Homo sapiens ubiquitin B (UBB), mRNA. 92 Ubiquitin-like 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.E92E(4) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TCACCCTGGAAGTGGAGCCCA 0.557000 122 4 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 782347 782347 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:782347C>T uc002cjr.3 - 7 862 c.850G>A c.(850-852)Gag>Aag p.E284K NARFL_uc002cjp.3_Missense_Mutation_p.E182K|NARFL_uc002cjq.3_Missense_Mutation_p.E182K|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010uuq.1_Silent_p.K92K NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA. 284 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GAGACGCCCTCTTCCTCCAGC 0.537000 168 73 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7242713 7242713 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:7242713G>A uc010sfy.2 - 2 422 c.363C>T c.(361-363)tcC>tcT p.S121S C1R_uc010sfz.1_Silent_p.S135S|C1R_uc021quh.1_Silent_p.S10S|C1R_uc010sga.1_Silent_p.S87S NM_001733 NP_001724 P00736 C1R_HUMAN Homo sapiens complement component 1, r subcomponent (C1R), mRNA. 121 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTCCTCGTTGGAGAAGTCTG 0.547000 17 9 0 0 1 0 0 LOC494141 494141 broad.mit.edu 37 11 18231460 18231460 + RNA SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:18231460G>A uc009yhh.3 + 1 c.484G>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. AGTTGAGAACGGATGGATTTC 0.448000 17 27 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90385232 90385232 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:90385232G>A uc003pnn.1 - 77 12828 c.12712C>T c.(12712-12714)Cga>Tga p.R4238* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 4238 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.R4238Q(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CGCCGCTGTCGGACGAGCATC 0.532000 37 27 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88391839 88391839 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:88391839C>T uc001tam.1 - 3 430 c.262G>A c.(262-264)Gaa>Aaa p.E88K C12orf50_uc001tan.3_Missense_Mutation_p.E142K NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 88 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 TCCTCTTCTTCCTCAAAATTA 0.348000 15 7 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41161920 41161920 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:41161920G>A uc003jmk.2 - 9 1543 c.1333C>T c.(1333-1335)Cga>Tga p.R445* C6_uc003jml.1_Nonsense_Mutation_p.R445* NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 445 MACPF. 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) CTTCCACCTCGAATCAGGGAT 0.413000 92 9 0 0 1 0 0 APOO 79135 broad.mit.edu 37 X 23876823 23876823 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:23876823G>A uc004dax.3 - 5 654 c.416C>T c.(415-417)cCg>cTg p.P139L APOO_uc004day.4_Non-coding_Transcript NM_024122 NP_077027 Q9BUR5 APOO_HUMAN Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA. 139 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 GAAACCAGGCGGATACACTAG 0.403000 21 30 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478758 14478758 + RNA SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:14478758G>A uc010xai.2 - 2 c.806C>T Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA. TACTGTAATGGAAGTGAACCT 0.348000 19 3 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207890896 207890896 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:207890896C>T uc001hga.4 + 10 1623 c.1502C>T c.(1501-1503)tCt>tTt p.S501F CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 501 Sushi 8. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AAAGAAGTATCTTACACATGT 0.483000 154 32 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140214184 140214184 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:140214184G>A uc003lhq.2 + 0 216 c.216G>A c.(214-216)ggG>ggA p.G72G 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_uc011dac.2_Silent_p.G72G NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 87 Cadherin 1. 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) AATTCCGTGGGGATCTTCTGG 0.617000 147 112 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166003504 166003504 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:166003504G>A uc002ucx.3 - 11 1908 c.1416C>T c.(1414-1416)ttC>ttT p.F472F SCN3A_uc002ucy.3_Silent_p.F472F|SCN3A_uc002ucz.3_Silent_p.F472F|SCN3A_uc002uda.1_Silent_p.F341F|SCN3A_uc002udb.1_Silent_p.F341F NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 472 voltage-gated sodium channel complex voltage-gated sodium channel activity 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) CTATTCCACTGAAATCTCTTG 0.423000 54 47 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24879218 24879218 + Nonsense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:24879218C>T uc001wpf.4 + 3 2536 c.2218C>T c.(2218-2220)Cag>Tag p.Q740* NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 740 DNA integration integral to membrane DNA binding p.F739C(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCACCAGTTTCAGATGGAGGG 0.632000 25 4 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121348916 121348916 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:121348916C>T uc001pxx.3 + 2 621 c.492C>T c.(490-492)atC>atT p.I164I NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 164 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AAGCTGTTATCGCCCAGTTCT 0.478000 20 4 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2049600 2049600 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:2049600G>A uc002cof.1 - 10 1965 c.1950C>T c.(1948-1950)ccC>ccT p.P650P TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.P14P NM_178167 NP_835461 Q86UK7 ZN598_HUMAN Homo sapiens zinc finger protein 598 (ZNF598), mRNA. 650 Pro-rich. intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 GGAGCCCAGGGGGTTCCTTGG 0.736000 26 24 0 0 1 0 0 SEPT5 5413 broad.mit.edu 37 22 19707891 19707891 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:19707891C>T uc002zpv.2 + 5 536 c.411C>T c.(409-411)ttC>ttT p.F137F SEPT5_uc002zpw.1_Silent_p.F146F|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR NM_002688 NP_002679 Q99719 SEPT5_HUMAN Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA. 137 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) AGCAGTACTTCCGTGATGAGA 0.597000 51 46 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278424 114278424 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:114278424G>A uc003ibe.4 + 37 8750 c.8650G>A c.(8650-8652)Gag>Aag p.E2884K ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E2899K NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 2851 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGAAACATTTGAGAACTTACC 0.393000 162 6 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011054 105011054 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chrX:105011054C>T uc004elz.1 + 10 2217 c.1461C>T c.(1459-1461)ttC>ttT p.F487F NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA. 487 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGAGTATTTTCGAACTGGAAA 0.388000 22 39 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103234148 103234148 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:103234148C>T uc022ajr.1 - 26 4053 c.3893G>A c.(3892-3894)gGa>gAa p.G1298E RELN_uc022ajq.1_Missense_Mutation_p.G1298E|RELN_uc010liz.3_Missense_Mutation_p.G1298E NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1298 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) TAGCACATATCCAGGTTTCAG 0.393000 77 35 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115614259 115614259 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr7:115614259C>T uc003vhj.2 - 2 485 c.232G>A c.(232-234)Gaa>Aaa p.E78K TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Missense_Mutation_p.E168K NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 78 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity p.E77V(1) NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) TCTGCTCCTTCCTCTTTAAAA 0.328000 32 19 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055069 40055069 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:40055069G>A uc003ayc.3 + 11 2278 c.2278G>A c.(2278-2280)Gac>Aac p.D760N CACNA1I_uc003ayd.3_Missense_Mutation_p.D725N|CACNA1I_uc003aye.3_Missense_Mutation_p.D675N|CACNA1I_uc003ayf.3_Missense_Mutation_p.D640N NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 760 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GAAGACCATGGACAACGTGGC 0.627000 80 6 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124393214 124393214 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:124393214G>A uc003ehg.3 + 48 7073 c.6946G>A c.(6946-6948)Gac>Aac p.D2316N KALRN_uc003ehi.3_Missense_Mutation_p.D656N|KALRN_uc003ehk.3_Missense_Mutation_p.D619N|KALRN_uc011bjz.2_Missense_Mutation_p.D407N NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2315 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCAGCAGAACGACCTGGGAGG 0.537000 60 58 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801109 9801109 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9801109C>T uc021uop.1 - 5 1716 c.1070G>A c.(1069-1071)gGa>gAa p.G357E ZNF812_uc010xkx.2_Missense_Mutation_p.G253E NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGGCTTCTCTCCTGTGTGAAT 0.393000 28 23 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70355166 70355166 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:70355166G>A uc003hek.4 - 2 1040 c.993C>T c.(991-993)atC>atT p.I331I UGT2B4_uc011cap.2_Silent_p.I195I|UGT2B4_uc003hel.4_Silent_p.I331I NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 331 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.I331V(1) 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 CCTTTTGTGGGATCTTGGCAA 0.398000 103 28 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129290539 129290539 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:129290539G>A uc003emx.2 - 15 3326 c.3226C>T c.(3226-3228)Ccc>Tcc p.P1076S NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1076 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CTGCGGCGGGGACTGATGGCC 0.667000 58 75 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6204140 6204140 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:6204140G>A uc001amb.2 - 11 1989 c.1878C>T c.(1876-1878)atC>atT p.I626I CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 626 Chromo 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGATGTCATCGATCTCCCAGG 0.592000 79 69 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090186 9090186 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:9090186C>T uc002mkp.3 - 0 1833 c.1629G>A c.(1627-1629)atG>atA p.M543I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 543 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 TCTCTGTTTTCATGCTAGGAC 0.532000 51 20 0 0 1 0 0 TOM1 10043 broad.mit.edu 37 22 35719109 35719109 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:35719109C>T uc003ann.3 + 3 430 c.305C>T c.(304-306)aCc>aTc p.T102I TOM1_uc011ami.2_Missense_Mutation_p.T69I|TOM1_uc003anp.3_Missense_Mutation_p.T102I|TOM1_uc011aml.2_Missense_Mutation_p.T102I|TOM1_uc011amk.2_Missense_Mutation_p.T64I|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_5'UTR NM_005488 NP_005479 O60784 TOM1_HUMAN Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA. 102 VHS. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 CTGGTGAGGACCATCCTGCCC 0.607000 30 49 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488439 108488439 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:108488439G>A uc010ywk.2 + 19 4061 c.3979G>A c.(3979-3981)Gaa>Aaa p.E1327K RGPD4_uc002tdu.3_Missense_Mutation_p.E514K|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1327 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGTTACTCAAGAAGAAGAGAG 0.393000 137 116 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164506934 164506934 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:164506934G>A uc003iqs.2 - 5 572 c.390C>T c.(388-390)ttC>ttT p.F130F MARCH1_uc003iqr.2_Silent_p.F113F NM_001166373 NP_001159845 Q8TCQ1 MARH1_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA. 130 antigen processing and presentation of peptide antigen via MHC class II|immune response Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.F113F(1)|p.F130F(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCCATTATGAAGTCATACT 0.493000 66 6 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123475205 123475205 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:123475205G>A uc001uej.1 - 15 2655 c.2456C>T c.(2455-2457)tCc>tTc p.S819F PITPNM2_uc001uek.1_Missense_Mutation_p.S867F NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 819 DDHD. 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) GCCCGGCGAGGAGGGGGCGCC 0.662000 43 18 0 0 1 0 0 CELA3B 23436 broad.mit.edu 37 1 22304895 22304895 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:22304895C>T uc001bfk.3 + 1 192 c.77C>T c.(76-78)tCc>tTc p.S26F CELA3B_uc009vqf.3_Missense_Mutation_p.S25F NM_007352 NP_031378 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA. 26 cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TCTCGCCCTTCCAGCCGCGTT 0.627000 35 20 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61648531 61648531 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:61648531C>T uc003jsy.4 + 4 762 c.451C>T c.(451-453)Ccc>Tcc p.P151S KIF2A_uc003jsz.4_Missense_Mutation_p.P151S|KIF2A_uc003jsx.4_Missense_Mutation_p.P131S|KIF2A_uc010iwp.3_Intron|KIF2A_uc010iwq.3_5'UTR NM_004520 NP_004511 O00139 KIF2A_HUMAN Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA. 151 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GGAATTTGGACCCCCTTGTAT 0.388000 11 5 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332756 70332756 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:70332756G>A uc001oqc.3 - 20 3556 c.3444C>T c.(3442-3444)tcC>tcT p.S1148S SHANK2_uc010rqn.2_Silent_p.S624S|SHANK2_uc001opz.3_Silent_p.S619S|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 835 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGGCCAGCGGGGAGCTGGGAT 0.667000 34 40 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78225183 78225183 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:78225183C>T uc002jyb.2 + 16 2018 c.1712C>T c.(1711-1713)tCt>tTt p.S571F SLC26A11_uc002jyc.2_Missense_Mutation_p.S571F|SLC26A11_uc002jyd.2_Missense_Mutation_p.S571F|SLC26A11_uc010dhv.2_Missense_Mutation_p.S571F NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 571 STAS. Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CAGTACTTCTCTACCCTGGAA 0.488000 68 29 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28750652 28750652 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr13:28750652C>T uc001urz.3 + 2 727 c.575C>T c.(574-576)tCc>tTc p.S192F PAN3_uc010tdo.1_Missense_Mutation_p.S192F|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.S46F NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 192 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AGTAGCAGCTCCCCAAGCCTT 0.358000 29 50 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118511787 118511787 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:118511787G>A uc001tws.3 - 4 1270 c.936C>T c.(934-936)tcC>tcT p.S312S NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA. 312 Ig-like C2-type 4. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 CAGAGAGAAGGGAGGGACCCC 0.502000 44 14 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55962486 55962486 + Nonsense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr4:55962486G>A uc003has.3 - 18 2940 c.2638C>T c.(2638-2640)Cga>Tga p.R880* KDR_uc003hat.1_Nonsense_Mutation_p.R880* NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 880 Protein kinase. 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) ATGAGAGCTCGATGCTCACTG 0.458000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 15 23 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63417109 63417109 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:63417109C>T uc001xfx.3 - 6 1162 c.1111G>A c.(1111-1113)Gga>Aga p.G371R KCNH5_uc001xfy.3_Missense_Mutation_p.G371R|KCNH5_uc001xfz.1_Missense_Mutation_p.G313R|KCNH5_uc001xga.3_Missense_Mutation_p.G313R NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 371 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) TCGTAGTCTCCGATGCTATAC 0.502000 65 17 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66725159 66725159 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:66725159C>T uc001sti.2 + 11 2924 c.2896C>T c.(2896-2898)Ccg>Tcg p.P966S HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript NM_033647 NP_387467 Q8NG08 HELB_HUMAN Homo sapiens helicase (DNA) B (HELB), mRNA. 966 P -> L (in dbSNP:rs1185244). DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AGCAGATTTTCCGTCCCCACG 0.502000 44 32 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193031915 193031915 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr3:193031915C>T uc011bsq.2 - 18 2226 c.2226G>A c.(2224-2226)gtG>gtA p.V742V NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 742 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) CAACAATGATCACTTGGCTGC 0.468000 49 68 0 0 1 0 0 TMCO7 79613 broad.mit.edu 37 16 69056765 69056765 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:69056765C>T uc002ewi.4 + 15 2889 c.2877C>T c.(2875-2877)atC>atT p.I959I NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA. 959 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) AACCTTTGATCCATACCTTCC 0.468000 6 4 0 0 1 0 0 ALPL 249 broad.mit.edu 37 1 21887684 21887684 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:21887684C>T uc001bet.3 + 3 533 c.276C>T c.(274-276)ttC>ttT p.F92F ALPL_uc010odo.2_Silent_p.F37F|ALPL_uc010odp.2_Intron|ALPL_uc010odn.2_Silent_p.F40F|ALPL_uc001beu.4_Silent_p.F92F NM_000478 NP_001120973 P05186 PPBT_HUMAN Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA. 92 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) TGGACAAGTTCCCCTTCGTGG 0.597000 13 5 0 0 1 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409612 17409612 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:17409612G>A uc001mna.3 - 0 595 c.27C>T c.(25-27)ccC>ccT p.P9P KCNJ11_uc001mnb.4_Intron NM_000525 NP_001159762 B4DWI4 B4DWI4_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA. 0 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CGTATTCCTCGGGGATGATGC 0.672000 91 4 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215802250 215802250 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:215802250G>A uc002vew.3 - 50 7746 c.7526C>T c.(7525-7527)cCa>cTa p.P2509L ABCA12_uc002vev.3_Missense_Mutation_p.P2191L|ABCA12_uc010zjn.2_Missense_Mutation_p.P1436L NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2509 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) GTATGTTTTTGGAAAGTGCAG 0.458000 42 10 0 0 1 0 0 IGH 0 broad.mit.edu 37 16 33647492 33647492 + RNA SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:33647492G>A uc010vga.2 - 0 c.51C>T Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h. ACAGTCTCAGGGACCCCCCAG 0.572000 175 32 0 0 1 0 0 IMPA2 3613 broad.mit.edu 37 18 11999176 11999176 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr18:11999176C>T uc002kqp.2 + 1 462 c.220C>T c.(220-222)Cct>Tct p.P74S IMPA2_uc010dlb.2_5'UTR|IMPA2_uc021uhq.1_5'UTR NM_014214 NP_055029 O14732 IMPA2_HUMAN Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA. 74 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) AGAGAGGTTTCCTTCACACAG 0.493000 32 56 0 0 1 0 0 C17orf103 256302 broad.mit.edu 37 17 21147471 21147471 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:21147471G>A uc010vzx.2 - 2 172 c.170C>T c.(169-171)aCc>aTc p.T57I NM_152914 NP_690878 Q8N6N6 GTL3B_HUMAN Homo sapiens chromosome 17 open reading frame 103 (C17orf103), mRNA. 58 endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 TGGGACCTCGGTGTGCTGCAG 0.647000 28 20 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20648307 20648307 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:20648307C>T uc001mqd.3 + 7 1587 c.1314C>T c.(1312-1314)atC>atT p.I438I SLC6A5_uc009yic.3_Silent_p.I203I NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 438 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TCCTCCTCATCCGAGGAGTCA 0.562000 33 56 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40370239 40370239 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:40370239G>A uc002hzh.3 - 8 1268 c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S STAT5B_uc002hzi.3_Missense_Mutation_p.P367S NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 367 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TTCACCTGGGGGGGGTTCATG 0.577000 45 14 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109201509 109201509 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:109201509C>T uc001tnm.3 - 7 718 c.631G>A c.(631-633)Gag>Aag p.E211K SSH1_uc001tnl.3_5'Flank|SSH1_uc010sxg.2_Missense_Mutation_p.E222K|SSH1_uc001tnn.4_Missense_Mutation_p.E211K|SSH1_uc001tno.1_Missense_Mutation_p.E115K NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 211 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATGCAGCTCTCATAGTAGGTA 0.617000 112 8 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10973727 10973727 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr21:10973727C>T uc002yip.1 - 3 375 c.7G>A c.(7-9)Gaa>Aaa p.E3K TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E3K|TPTE_uc002yir.1_Missense_Mutation_p.E3K|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 3 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTCACCTTTCATTCATACGT 0.373000 67 12 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398350 10398350 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:10398350C>T uc002gmo.3 - 36 5458 c.5364G>A c.(5362-5364)aaG>aaA p.K1788K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1788 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTTCCAGGTTCTTCTTCATCC 0.542000 137 47 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42204018 42204018 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:42204018G>A uc003ose.2 - 15 3614 c.3051C>T c.(3049-3051)ccC>ccT p.P1017P TRERF1_uc011duq.1_Silent_p.P914P|TRERF1_uc003osb.2_Silent_p.P753P|TRERF1_uc003osc.2_Silent_p.P753P|TRERF1_uc003osd.2_Silent_p.P997P NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 997 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) GCCCCTCCGTGGGAGCCAGGA 0.627000 21 10 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49444089 49444089 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:49444089G>A uc001rta.4 - 10 3282 c.3282C>T c.(3280-3282)ctC>ctT p.L1094L NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 1094 Pro-rich. 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 TTGGGGAAGGGAGAGGACTGG 0.612000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 16 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179637853 179637853 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr2:179637853C>T uc021vsy.1 - 32 8063 c.7838G>A c.(7837-7839)gGa>gAa p.G2613E TTN_uc021vsz.1_Missense_Mutation_p.G2567E|TTN_uc021vta.1_Missense_Mutation_p.G2567E|TTN_uc021vtb.1_Missense_Mutation_p.G2567E|TTN_uc002unb.2_Missense_Mutation_p.G2613E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2613 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) AGTAAGTTTTCCAGATGTCAT 0.299000 46 21 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196927145 196927145 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:196927145G>A uc001gtq.1 + 3 632 c.555G>A c.(553-555)gaG>gaA p.E185E CFHR2_uc001gtr.1_Silent_p.E61E NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 185 Sushi 3. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 ATCAACTTGAGGGTAACAATC 0.388000 62 88 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62235071 62235071 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr1:62235071C>T uc001dab.3 + 4 615 c.501C>T c.(499-501)gtC>gtT p.V167V INADL_uc009waf.1_Silent_p.V167V|INADL_uc001daa.2_Silent_p.V167V|INADL_uc001dad.3_5'Flank NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 167 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TGAAGGATGTCCAGCCAGGGA 0.403000 79 48 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918195 51918195 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:51918195C>T uc002pwo.3 - 7 1720 c.1498G>A c.(1498-1500)Ggg>Agg p.G500R SIGLEC10_uc002pwp.3_Missense_Mutation_p.G442R|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 500 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCCCAGGGCCCGGCTGAGCTG 0.701000 37 32 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642767 57642767 + Silent SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:57642767C>T uc002qny.3 + 3 3080 c.2724C>T c.(2722-2724)atC>atT p.I908I USP29_uc021vci.1_Silent_p.I908I NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 908 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGGGGTGATCCCTCAGGGGG 0.473000 65 31 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656649 656649 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:656649G>A uc003mtg.3 - 0 316 c.296C>T c.(295-297)tCc>tTc p.S99F EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA. 99 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CAGCTTCAGGGAGGACGCGCC 0.682000 15 19 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49579070 49579070 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:49579070G>A uc009zlf.3 - 3 1351 c.1079C>T c.(1078-1080)cCc>cTc p.P360L TUBA1A_uc001rtp.3_Missense_Mutation_p.P360L NM_006009 NP_006000 Q71U36 TBA1A_HUMAN Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA. 360 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 CACCACAGTGGGAGGCTGGTA 0.577000 24 26 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44691282 44691282 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:44691282G>A uc002xrd.3 - 6 1925 c.1397C>T c.(1396-1398)tCc>tTc p.S466F NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.S466F NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 466 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGCTGCTGTGGAAAAATTCTG 0.542000 248 30 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47076519 47076519 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr17:47076519C>T uc002iom.3 + 1 558 c.224C>T c.(223-225)cCc>cTc p.P75L IGF2BP1_uc010dbj.3_Missense_Mutation_p.P75L NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 75 RRM 1. 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 CATTCGGTGCCCAAAAAACAA 0.493000 33 20 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903151 5903151 + Missense_Mutation SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr20:5903151G>A uc002wmg.3 + 3 667 c.361G>A c.(361-363)Gag>Aag p.E121K CHGB_uc010zqz.2_Intron NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 121 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GGCAGACACAGAGAAATGGGC 0.627000 10 13 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 73979628 73979628 + Missense_Mutation SNP C T T rs149127771 by1000genomes TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr8:73979628C>T uc003xzf.3 - 4 948 c.743G>A c.(742-744)cGg>cAg p.R248Q NM_153225 NP_694957 Q8IVN8 RPESP_HUMAN Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA. 248 immune response extracellular region polysaccharide binding|scavenger receptor activity GTCTACTCGCCGAACTTTTTT 0.343000 79 6 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55569009 55569009 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:55569009C>T uc021pqw.1 - 35 5205 c.4810G>A c.(4810-4812)Gaa>Aaa p.E1604K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1599K|PCDH15_uc021pqx.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 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 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) CTGGAGGATTCCTCCTCTGAT 0.453000 HNSCC(58;0.16) 10 13 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62757842 62757842 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:62757842C>T uc003peg.2 - 2 524 c.277G>A c.(277-279)Gaa>Aaa p.E93K NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 93 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) CCTGTTTCTTCCTGTAGCCTC 0.373000 60 14 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75964575 75964575 + Missense_Mutation SNP A C C TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:75964575A>C uc003kek.3 + 22 2971 c.2749A>C c.(2749-2751)Act>Cct p.T917P IQGAP2_uc010izv.2_Missense_Mutation_p.T470P|IQGAP2_uc011csv.2_Missense_Mutation_p.T413P|IQGAP2_uc003kel.3_Missense_Mutation_p.T413P NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 917 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATTTATGGATACTGTTATTTT 0.338000 23 8 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909484 123909484 + Silent SNP C T T rs138227924 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr11:123909484C>T uc001pzq.1 - 0 225 c.225G>A c.(223-225)acG>acA p.T75T NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V74A(1)|p.V74L(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 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;0.0521) TTTTGGGCACCGTGACAGTGG 0.537000 108 30 0 0 1 0 0 GMCL1P1 64396 broad.mit.edu 37 5 177612937 177612937 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr5:177612937C>T uc003mit.1 - 0 1497 c.1364G>A c.(1363-1365)aGa>aAa p.R455K Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA. CAAGCGTAATCTAAATGCTAT 0.398000 28 17 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 815580 815580 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:815580C>T uc002cjw.2 + 8 869 c.758C>T c.(757-759)cCc>cTc p.P253L MSLN_uc002cju.1_Missense_Mutation_p.P253L|MSLN_uc002cjt.1_Missense_Mutation_p.P253L|MSLN_uc010brd.1_Missense_Mutation_p.P252L|MSLN_uc002cjy.1_5'Flank NM_013404 NP_037536 Q13421 MSLN_HUMAN Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA. 253 cell adhesion Golgi apparatus|anchored to membrane|extracellular region|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GGCCTGCTGCCCGTGCTGGGC 0.711000 35 9 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54903752 54903752 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:54903752C>T uc001sgc.4 + 6 797 c.718C>T c.(718-720)Cct>Tct p.P240S NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.P190S NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 240 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CATGATTAACCCTGCTAATTC 0.493000 77 49 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88566395 88566395 + Missense_Mutation SNP C T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr12:88566395C>T uc001tau.3 + 7 1292 c.1072C>T c.(1072-1074)Cca>Tca p.P358S TMTC3_uc009zsm.2_Non-coding_Transcript NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA. 358 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AATGGCATTACCATTTATTCC 0.299000 47 29 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446650 85446650 + Missense_Mutation SNP G A A rs149453199 TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr6:85446650G>A uc003pkl.1 - 7 1577 c.1577C>T c.(1576-1578)cCc>cTc p.P526L TBX18_uc010kbq.2_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 526 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity 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) TAGTGCACAGGGGCTGTGTAA 0.493000 148 35 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072151 17072151 + Missense_Mutation SNP C A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr22:17072151C>A uc002zlp.1 - 0 1550 c.1290G>T c.(1288-1290)ttG>ttT p.L430F NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 430 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity p.R429K(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGGCCCTTCCAATCTGCTTC 0.493000 104 23 2.89027e-11 2.96056e-11 1 1 0 IGHE 3497 broad.mit.edu 37 14 106067895 106067895 + Silent SNP G A A TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr14:106067895G>A uc001yrw.1 - 1 225 c.213C>T c.(211-213)gcC>gcT p.A71A abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.A18A|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; TGAGGGTGGTGGCTGGTAAGG 0.627000 87 12 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971122 21971123 + Frame_Shift_Ins INS - T T TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:21971122_21971123insT uc003zpk.3 - 1 541_542 c.235_236insA c.(235-237)accfs p.T79fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.T79fs|CDKN2A_uc003zpl.3_Frame_Shift_Ins_p.H93fs NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 79 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.L78fs*41(18)|p.T79I(4)|p.T79fs*37(2)|p.T79fs*65(2)|p.T79fs*41(2)|p.E61_L94del(2)|p.L65fs*38(1)|p.0(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.L78fs*67(1)|p.A68fs*3(1)|p.T79T(1)|p.L78H(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CACGGGTCGGGTGAGAGTGGCG 0.728 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) --- 19 --- --- 36 --- GPR107 57720 broad.mit.edu 37 9 132839657 132839660 + Splice_Site DEL AGTA - - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr9:132839657_132839660delAGTA uc004bze.2 + 4 613 c.386_splice c.e4+1 p.E129_splice GPR107_uc004bzb.2_Intron|GPR107_uc011mbx.1_Splice_Site_p.E129_splice|GPR107_uc004bzd.2_Splice_Site_p.E129_splice NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA. 129 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TCCAGAAGTGAGTAAGTAATTCTA 0.412 --- 46 --- --- 9 --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG - - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr10:30316501_30316503delCTG uc009xle.2 - 2 2711_2713 c.2574_2576delCAG c.(2572-2577)agcagt>agt p.858_859SS>S KIAA1462_uc001iux.3_In_Frame_Del_p.858_859SS>S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Del_p.720_721SS>S NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 858 Ser-rich. 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 ACTCTCCTCActgctgctgctgc 0.571 --- 95 --- --- 7 --- PMM2 5373 broad.mit.edu 37 16 8904969 8904969 + Frame_Shift_Del DEL A - - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr16:8904969delA uc002czf.4 + 4 451 c.381delA c.(379-381)ttafs p.L127fs PMM2_uc010uyf.2_Intron|PMM2_uc010uyg.2_Frame_Shift_Del_p.L44fs|PMM2_uc010uyh.2_Frame_Shift_Del_p.L2fs|PMM2_uc010buj.3_Intron|PMM2_uc010uyi.2_Intron NM_000303 NP_000294 O15305 PMM2_HUMAN Homo sapiens phosphomannomutase 2 (PMM2), mRNA. 127 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 ATGGGATGTTAAACGTGTCCC 0.408 --- 4 --- --- 2 --- NOTCH3 4854 broad.mit.edu 37 19 15303285 15303285 + Frame_Shift_Del DEL G - - TCGA-D3-A5GN-06A-11D-A27K-08 TCGA-D3-A5GN-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8715150d-bd53-413a-b69e-1e8402bb6f51 25e1a5a6-ca70-4f0f-87d9-be8c09a0e194 g.chr19:15303285delG uc002nan.3 - 2 319 c.243delC c.(241-243)cccfs p.P81fs NOTCH3_uc002nao.1_Frame_Shift_Del_p.P81fs NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 81 EGF-like 2. Missing (in CADASIL). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CTGAGTGACAGGGGTCCTCCA 0.677 --- 16 --- --- 9 ---