Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter TMEM51 55092 broad.mit.edu 37 1 15545933 15545933 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:15545933G>A uc001avw.3 + 4 975 c.456G>A c.(454-456)CCG>CCA p.P152P TMEM51_uc010obk.1_Silent_p.P152P|TMEM51_uc001avz.2_3'UTR|TMEM51_uc001avy.2_Silent_p.P152P|TMEM51_uc001avx.2_Silent_p.P152P NM_001136216 NP_001129688 Q9NW97 TMM51_HUMAN transmembrane protein 51 152 integral to membrane 0 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) AGCAGAACCCGAGGTTGAGCA 0.582 17 94 --- --- --- --- PASS NBPF3 84224 broad.mit.edu 37 1 21797204 21797204 + Missense_Mutation SNP G T T rs72872292 byFrequency TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:21797204G>T uc001ber.2 + 4 773 c.423G>T c.(421-423)GAG>GAT p.E141D NBPF3_uc001bes.2_Missense_Mutation_p.E85D|NBPF3_uc009vqb.2_Missense_Mutation_p.E141D|NBPF3_uc010odm.1_Missense_Mutation_p.E71D NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 141 Potential. cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTGCAGAGGAGCTCGGGCAAG 0.547 11 68 --- --- --- --- PASS PODN 127435 broad.mit.edu 37 1 53535731 53535731 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:53535731C>T uc001cuv.2 + 2 355 c.348C>T c.(346-348)TGC>TGT p.C116C PODN_uc001cuw.2_Silent_p.C97C|PODN_uc010onr.1_Silent_p.C97C|PODN_uc010ons.1_Silent_p.C116C NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 68 LRRNT. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 CGGTCAGCTGCCCCCGAGACT 0.667 6 39 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62330011 62330011 + Missense_Mutation SNP C A A rs139134153 byFrequency TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:62330011C>A uc001dab.2 + 20 2655 c.2541C>A c.(2539-2541)AGC>AGA p.S847R INADL_uc009waf.1_Missense_Mutation_p.S847R|INADL_uc001daa.2_Missense_Mutation_p.S847R|INADL_uc001dad.3_Missense_Mutation_p.S544R|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 847 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 TAGAGCAAAGCAAGGAGGCCT 0.368 6 97 --- --- --- --- PASS SFRS11 9295 broad.mit.edu 37 1 70700378 70700378 + Splice_Site SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:70700378G>T uc001des.2 + 5 572 c.448_splice c.e5-1 p.I150_splice SFRS11_uc001det.2_Splice_Site_p.I150_splice|SFRS11_uc001deu.2_Splice_Site_p.I150_splice|SFRS11_uc001dev.2_Splice_Site|SFRS11_uc001dew.2_Splice_Site_p.I90_splice NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 CCATTTCACAGATTGGCGCTG 0.338 29 102 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94480239 94480239 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:94480239C>T uc001dqh.2 - 38 5424 c.5320G>A c.(5320-5322)GTC>ATC p.V1774I ABCA4_uc009wdp.1_Missense_Mutation_p.V42I NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1774 Helical; (Potential). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) ATGGGAATGACCGCCCATCTG 0.478 37 171 --- --- --- --- PASS ISG20L2 81875 broad.mit.edu 37 1 156694041 156694041 + Missense_Mutation SNP T A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:156694041T>A uc001fps.1 - 2 1108 c.847A>T c.(847-849)ACC>TCC p.T283S ISG20L2_uc001fpt.1_Missense_Mutation_p.T283S NM_030980 NP_112242 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 283 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATATGGGAGGTGTCACGGGTG 0.542 24 113 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157494301 157494301 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:157494301C>A uc001fqu.2 - 10 2165 c.2007G>T c.(2005-2007)CAG>CAT p.Q669H FCRL5_uc009wsm.2_Missense_Mutation_p.Q669H|FCRL5_uc010phv.1_Missense_Mutation_p.Q669H|FCRL5_uc010phw.1_Missense_Mutation_p.Q584H NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 669 Extracellular (Potential).|Ig-like C2-type 7. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCACCACAGCCTGGGCCCTGG 0.527 18 67 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158735878 158735878 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:158735878C>A uc010piq.1 - 1 595 c.595G>T c.(595-597)GAT>TAT p.D199Y NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) ATAACAAAATCTACTAGGACA 0.483 40 141 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169510281 169510281 + Silent SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:169510281G>T uc001ggg.1 - 13 4192 c.4047C>A c.(4045-4047)TCC>TCA p.S1349S NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1349 2-19.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CGAGGGCTGGGGAAAGGTTTG 0.517 59 205 --- --- --- --- PASS FASLG 356 broad.mit.edu 37 1 172628635 172628635 + Silent SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:172628635C>A uc001gis.2 + 1 451 c.294C>A c.(292-294)GGC>GGA p.G98G FASLG_uc001git.2_Silent_p.G98G NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 98 Helical; Signal-anchor for type II membrane protein; (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 TAGGATTGGGCCTGGGGATGT 0.512 18 59 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176709279 176709279 + Silent SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:176709279G>T uc001gkz.2 + 14 5262 c.4098G>T c.(4096-4098)TCG>TCT p.S1366S PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1366 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTGGTCTTTCGGCTCCCAGTA 0.507 22 64 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176903472 176903472 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:176903472G>A uc001glc.2 - 16 2699 c.2487C>T c.(2485-2487)CTC>CTT p.L829L ASTN1_uc001glb.1_Silent_p.L829L|ASTN1_uc001gld.1_Silent_p.L829L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 837 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GAGCATTGCTGAGGGCTATGG 0.522 11 52 --- --- --- --- PASS FAM20B 9917 broad.mit.edu 37 1 179019460 179019460 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:179019460G>A uc001gmc.2 + 3 717 c.424G>A c.(424-426)GAT>AAT p.D142N NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor 142 Lumenal (Potential). Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 TGCTGGTTATGATAGACACAA 0.448 61 165 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179398712 179398712 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:179398712G>C uc001gmo.2 + 13 1417 c.1290G>C c.(1288-1290)TGG>TGC p.W430C C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.W218C|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.W430C NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 430 0 AAAAAGGCTGGAATAAATACA 0.323 9 52 --- --- --- --- PASS TP53BP2 7159 broad.mit.edu 37 1 224009057 224009057 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:224009057C>A uc010pvb.1 - 2 332 c.40G>T c.(40-42)GTG>TTG p.V14L TP53BP2_uc001hod.2_5'UTR NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 8 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) CTGAGATACACGGTAAGAAAC 0.413 64 270 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226822451 226822451 + Missense_Mutation SNP C G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:226822451C>G uc010pvo.1 - 8 3102 c.2762G>C c.(2761-2763)CGG>CCG p.R921P NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 921 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GCCATCCTCCCGGTTCCCCTC 0.632 11 41 --- --- --- --- PASS GUK1 2987 broad.mit.edu 37 1 228335335 228335335 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:228335335G>C uc001hsh.2 + 7 713 c.410G>C c.(409-411)CGC>CCC p.R137P GUK1_uc001hsi.2_Missense_Mutation_p.R158P|GUK1_uc001hsj.2_Missense_Mutation_p.R77P|GUK1_uc010pvv.1_Missense_Mutation_p.R137P|GJC2_uc001hsk.2_5'Flank NM_000858 NP_000849 Q16774 KGUA_HUMAN guanylate kinase 1 isoform b 137 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity 0 Prostate(94;0.0405) CTGCGGCAGCGCAACACTGAA 0.657 13 38 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237794791 237794791 + Nonsense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:237794791G>T uc001hyl.1 + 42 6625 c.6505G>T c.(6505-6507)GAG>TAG p.E2169* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2169 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGGATGCACGAGACTGTGAT 0.458 6 25 --- --- --- --- PASS SMYD3 64754 broad.mit.edu 37 1 246498753 246498753 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:246498753C>T uc001ibl.2 - 3 347 c.252G>A c.(250-252)AAG>AAA p.K84K SMYD3_uc001ibk.2_Silent_p.K25K NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 84 MYND-type. cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TGCATTCCCGCTTGTGGTCTG 0.398 29 177 --- --- --- --- PASS OR2C3 81472 broad.mit.edu 37 1 247695727 247695727 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr1:247695727G>A uc009xgy.2 - 2 449 c.87C>T c.(85-87)TTC>TTT p.F29F C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGACAACTATGAAGAGGACAG 0.463 31 71 --- --- --- --- PASS SNX17 9784 broad.mit.edu 37 2 27596776 27596776 + Missense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:27596776A>T uc002rkg.1 + 5 592 c.370A>T c.(370-372)AGC>TGC p.S124C SNX17_uc010ylj.1_Missense_Mutation_p.S104C|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Missense_Mutation_p.S112C|SNX17_uc010ylo.1_Missense_Mutation_p.S42C|SNX17_uc010ylp.1_Missense_Mutation_p.S99C|SNX17_uc010ylq.1_5'UTR NM_014748 NP_055563 Q15036 SNX17_HUMAN sorting nexin 17 124 Ras-associating. cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGCTGCTCAGCAACGGGCA 0.557 7 41 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28741349 28741349 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:28741349C>T uc002rmb.1 + 3 134 c.134C>T c.(133-135)CCA>CTA p.P45L PLB1_uc010ezj.1_Missense_Mutation_p.P45L NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 45 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) AAGAATTCTCCATTCCCATGC 0.408 45 95 --- --- --- --- PASS EHD3 30845 broad.mit.edu 37 2 31472300 31472300 + Silent SNP G A A rs138864640 TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:31472300G>A uc002rnu.2 + 3 1076 c.468G>A c.(466-468)GGG>GGA p.G156G EHD3_uc010ymt.1_Silent_p.G156G NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 156 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) ACACACCAGGGATCCTCTCTG 0.592 15 56 --- --- --- --- PASS GGCX 2677 broad.mit.edu 37 2 85780514 85780514 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:85780514G>A uc002sps.2 - 8 1102 c.996C>T c.(994-996)CCC>CCT p.P332P GGCX_uc010yss.1_Silent_p.P171P|GGCX_uc010yst.1_Silent_p.P275P NM_000821 NP_000812 P38435 VKGC_HUMAN gamma-glutamyl carboxylase isoform 1 332 Cytoplasmic (Potential). blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity ovary(1) 1 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CTGCCTTGAGGGGCAACAGTT 0.617 25 123 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98846666 98846666 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:98846666C>A uc002syo.2 + 16 2568 c.2304C>A c.(2302-2304)CAC>CAA p.H768Q VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.H287Q|VWA3B_uc002sym.2_Missense_Mutation_p.H768Q|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.H425Q|VWA3B_uc002syp.1_Missense_Mutation_p.H160Q|VWA3B_uc002syq.1_Missense_Mutation_p.H44Q|VWA3B_uc002syr.1_Missense_Mutation_p.H85Q NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 768 ovary(3)|large_intestine(2)|skin(1) 6 AAGTCCTTCACGCAGGTATCA 0.383 11 62 --- --- --- --- PASS ACOXL 55289 broad.mit.edu 37 2 111598951 111598951 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:111598951G>C uc002tgr.3 + 10 981 c.757G>C c.(757-759)GGG>CGG p.G253R ACOXL_uc010fkc.2_Missense_Mutation_p.G253R|ACOXL_uc010yxk.1_Missense_Mutation_p.G253R NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 253 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 ATTACAGCTTGGGTTGACGAT 0.313 5 32 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116593772 116593772 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:116593772G>T uc002tla.1 + 22 2447 c.1990G>T c.(1990-1992)GAT>TAT p.D664Y DPP10_uc002tlb.1_Missense_Mutation_p.D614Y|DPP10_uc002tlc.1_Missense_Mutation_p.D660Y|DPP10_uc002tle.2_Missense_Mutation_p.D668Y|DPP10_uc002tlf.1_Missense_Mutation_p.D657Y NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 664 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CTTAAAATCAGATGAAAAGCT 0.294 11 57 --- --- --- --- PASS TMEM37 140738 broad.mit.edu 37 2 120194538 120194538 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:120194538C>T uc002tly.2 + 2 129 c.95C>T c.(94-96)ACG>ATG p.T32M NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN transmembrane protein 37 32 Helical; (Potential). integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1) 1 CTCATCATCACGTGTGTGGCC 0.612 27 124 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 131976176 131976176 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:131976176C>T uc002tsn.2 + 1 253 c.201C>T c.(199-201)CAC>CAT p.H67H PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 67 ATP binding 0 GGTGCCACCACTGCTTCCCCT 0.582 58 222 --- --- --- --- PASS CCDC74A 90557 broad.mit.edu 37 2 132288288 132288288 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:132288288G>T uc002tta.2 + 3 484 c.432G>T c.(430-432)AGG>AGT p.R144S CCDC74A_uc002ttb.2_Intron NM_138770 NP_620125 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 144 skin(1) 1 GGACACACAGGCCAGGAGGCA 0.652 13 117 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163059422 163059422 + Missense_Mutation SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:163059422A>G uc002ucd.2 - 14 1391 c.1183T>C c.(1183-1185)TGG>CGG p.W395R FAP_uc010zct.1_Missense_Mutation_p.W370R|FAP_uc010fpd.2_Intron NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 395 Extracellular (Potential). 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 ovary(3) 3 ATGGCCTCCCACTTGCCACTT 0.373 26 138 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168099528 168099528 + Silent SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:168099528C>A uc002udx.2 + 8 1644 c.1626C>A c.(1624-1626)GCC>GCA p.A542A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.A367A|XIRP2_uc010fpq.2_Silent_p.A320A|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 367 Xin 1. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGCAACAAGCCCGGTATGTTT 0.368 12 48 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179517248 179517248 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:179517248C>T uc010zfg.1 - 156 31986 c.31762G>A c.(31762-31764)GTT>ATT p.V10588I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11515 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGGAACAACTTCTTTCGGA 0.368 15 99 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207175031 207175031 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:207175031C>A uc002vbp.2 + 5 6029 c.5779C>A c.(5779-5781)CCT>ACT p.P1927T NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1927 nucleic acid binding|zinc ion binding ovary(3) 3 AGAGAGGCCTCCTAAGCAAAA 0.443 20 64 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207175032 207175032 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:207175032C>A uc002vbp.2 + 5 6030 c.5780C>A c.(5779-5781)CCT>CAT p.P1927H NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1927 nucleic acid binding|zinc ion binding ovary(3) 3 GAGAGGCCTCCTAAGCAAAAG 0.438 20 66 --- --- --- --- PASS PTH2R 5746 broad.mit.edu 37 2 209324667 209324667 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:209324667C>T uc002vdb.2 + 9 1175 c.962C>T c.(961-963)CCG>CTG p.P321L PTH2R_uc010zjb.1_Missense_Mutation_p.P332L NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 321 Helical; Name=5; (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TATCAAGCACCGATCTTAGCA 0.388 7 177 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225346608 225346608 + Splice_Site SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:225346608C>T uc002vny.2 - 14 2413 c.2029_splice c.e14+1 p.V677_splice CUL3_uc010zls.1_Splice_Site_p.V611_splice|CUL3_uc010fwy.1_Splice_Site_p.V683_splice NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATTCCAGATACCTGTTTGAAT 0.269 24 119 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225376227 225376227 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:225376227C>T uc002vny.2 - 6 1111 c.727G>A c.(727-729)GAA>AAA p.E243K CUL3_uc010zls.1_Missense_Mutation_p.E177K|CUL3_uc010fwy.1_Missense_Mutation_p.E249K NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 243 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCTATTTCTTCATTAATTCTA 0.323 26 163 --- --- --- --- PASS PDCD1 5133 broad.mit.edu 37 2 242795003 242795003 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr2:242795003C>T uc002wcq.3 - 2 274 c.206G>A c.(205-207)CGC>CAC p.R69H PDCD1_uc010fzs.2_5'UTR|PDCD1_uc010fzt.2_Intron NM_005018 NP_005009 Q15116 PDCD1_HUMAN programmed cell death 1 precursor 69 Ig-like V-type.|Extracellular (Potential). apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity ovary(1) 1 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;0.0219) GGGGCTCATGCGGTACCAGTT 0.637 8 32 --- --- --- --- PASS KIAA1407 57577 broad.mit.edu 37 3 113761550 113761550 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr3:113761550C>A uc003eax.2 - 4 562 c.415G>T c.(415-417)GAT>TAT p.D139Y KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.D117Y|KIAA1407_uc011bip.1_Missense_Mutation_p.D126Y NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 139 ovary(2) 2 AAGTTCTTACCATCAAACTTG 0.318 9 73 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955592 113955592 + Nonsense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr3:113955592G>T uc010hqo.2 - 1 834 c.330C>A c.(328-330)TGC>TGA p.C110* ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 110 C2H2-type 3; atypical. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) AGACCTTCCCGCACTCCACGC 0.547 10 32 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119133421 119133421 + Missense_Mutation SNP T G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr3:119133421T>G uc003ecj.3 + 12 3177 c.2645T>G c.(2644-2646)GTA>GGA p.V882G NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 882 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 ACCCATTCAGTACAGGAGCCT 0.542 31 117 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124209608 124209608 + Silent SNP G T T rs139928910 TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr3:124209608G>T uc003ehg.2 + 30 4585 c.4458G>T c.(4456-4458)CCG>CCT p.P1486P KALRN_uc010hrv.1_Silent_p.P1477P|KALRN_uc003ehf.1_Silent_p.P1486P|KALRN_uc011bjy.1_Silent_p.P1477P NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1486 PH 1. 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|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TGTGGGACCCGAAGTCGCTGA 0.507 22 111 --- --- --- --- PASS NPHP3 27031 broad.mit.edu 37 3 132423171 132423171 + Missense_Mutation SNP C G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr3:132423171C>G uc003epe.1 - 9 1472 c.1395G>C c.(1393-1395)TTG>TTC p.L465F NPHP3_uc003epf.1_Missense_Mutation_p.L220F NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 465 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CCTCACTGCCCAAATCCTTAG 0.388 15 393 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184586825 184586825 + Splice_Site SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr3:184586825G>T uc003fpb.1 + 18 1762 c.1591_splice c.e18+1 p.G531_splice VPS8_uc010hyd.1_Splice_Site_p.G531_splice NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GCAGTAGTGGGTGAGTAGGCA 0.458 28 16 --- --- --- --- PASS BCL6 604 broad.mit.edu 37 3 187442826 187442826 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr3:187442826T>C uc003frp.3 - 9 2337 c.1880A>G c.(1879-1881)GAG>GGG p.E627G BCL6_uc011bsf.1_Missense_Mutation_p.E571G|BCL6_uc010hza.2_Missense_Mutation_p.E525G|BCL6_uc003frq.1_Missense_Mutation_p.E627G NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 627 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) ATAGGGCTTCTCACCAGTGTG 0.572 T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 82 222 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123336548 123336548 + Missense_Mutation SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr4:123336548A>G uc003ieo.2 + 11 1496 c.1264A>G c.(1264-1266)AGT>GGT p.S422G ADAD1_uc003iep.2_Missense_Mutation_p.S411G|ADAD1_uc003ieq.2_Missense_Mutation_p.S404G NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 422 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TGGGAATTGCAGTGATACCAG 0.333 20 74 --- --- --- --- PASS BBS12 166379 broad.mit.edu 37 4 123663366 123663366 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr4:123663366G>T uc003ieu.2 + 2 512 c.319G>T c.(319-321)GTC>TTC p.V107F NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 107 cellular protein metabolic process cilium ATP binding ovary(2) 2 TCATCTTGGTGTCCCCATTTC 0.373 Bardet-Biedl_syndrome 31 96 --- --- --- --- PASS BBS12 166379 broad.mit.edu 37 4 123663906 123663906 + Nonsense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr4:123663906G>T uc003ieu.2 + 2 1052 c.859G>T c.(859-861)GAA>TAA p.E287* NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 287 cellular protein metabolic process cilium ATP binding ovary(2) 2 GAAGTTAGTAGAAGAAGCAGT 0.388 Bardet-Biedl_syndrome 16 47 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134071494 134071494 + Missense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr4:134071494A>T uc003iha.2 + 1 1025 c.199A>T c.(199-201)AAC>TAC p.N67Y uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.N67Y NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 67 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTTAGACCTCAACCTGGAGAC 0.532 29 99 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393523 164393523 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr4:164393523G>T uc003iqp.3 - 1 1525 c.1364C>A c.(1363-1365)GCC>GAC p.A455D NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 455 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGTCGAGATGGCATCACTTGG 0.478 30 70 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71493130 71493130 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr5:71493130G>A uc003kbw.3 + 5 4189 c.3948G>A c.(3946-3948)AAG>AAA p.K1316K MAP1B_uc010iyw.1_Silent_p.K1333K|MAP1B_uc010iyx.1_Silent_p.K1190K|MAP1B_uc010iyy.1_Silent_p.K1190K NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1316 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTGAGGACAAGACTCTGGAAG 0.498 9 32 --- --- --- --- PASS FAM170A 340069 broad.mit.edu 37 5 118968463 118968463 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr5:118968463G>C uc003ksm.2 + 2 301 c.91G>C c.(91-93)GAT>CAT p.D31H FAM170A_uc003ksl.2_Missense_Mutation_p.D31H|FAM170A_uc003ksn.2_Missense_Mutation_p.D31H|FAM170A_uc003kso.2_Intron NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 31 intracellular zinc ion binding skin(1) 1 GTCCCAAGAGGATGCCCTGCA 0.433 25 56 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160097670 160097670 + Missense_Mutation SNP C G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr5:160097670C>G uc003lym.1 - 7 1322 c.475G>C c.(475-477)GAG>CAG p.E159Q ATP10B_uc003lyp.2_Missense_Mutation_p.E159Q|ATP10B_uc011deg.1_Missense_Mutation_p.E203Q|ATP10B_uc003lyo.2_Missense_Mutation_p.E131Q NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 159 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAGGTCTGCTCTTTTCTTGGG 0.463 31 70 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40399704 40399704 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:40399704G>C uc003oph.1 - 2 1614 c.1149C>G c.(1147-1149)AGC>AGG p.S383R NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 383 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGTGCTGTTGCTGAGGTGTG 0.652 11 39 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66204811 66204811 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:66204811G>C uc011dxu.1 - 4 1031 c.493C>G c.(493-495)CTA>GTA p.L165V EYS_uc003peq.2_Missense_Mutation_p.L165V|EYS_uc003per.1_Missense_Mutation_p.L165V|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 165 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 GTCACATTTAGTCGAAGTCCC 0.428 24 64 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76715078 76715078 + Missense_Mutation SNP T G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:76715078T>G uc003pik.1 - 10 1191 c.1061A>C c.(1060-1062)GAC>GCC p.D354A NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 354 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCTTTTGAGGTCTGTAGCTGT 0.423 28 106 --- --- --- --- PASS NT5E 4907 broad.mit.edu 37 6 86181076 86181076 + Silent SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:86181076C>A uc003pko.3 + 3 1240 c.684C>A c.(682-684)CTC>CTA p.L228L NT5E_uc003pkn.2_Silent_p.L228L|NT5E_uc010kbr.2_Silent_p.L228L NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 228 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) TGGATAAACTCATCGCTCAGA 0.408 19 86 --- --- --- --- PASS ORC3L 23595 broad.mit.edu 37 6 88331094 88331094 + Missense_Mutation SNP A G G rs147755470 TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:88331094A>G uc003pmh.2 + 10 1054 c.1010A>G c.(1009-1011)TAT>TGT p.Y337C ORC3L_uc011dzl.1_Missense_Mutation_p.Y337C|ORC3L_uc011dzm.1_Missense_Mutation_p.Y337C|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.Y337C|ORC3L_uc003pmi.2_Missense_Mutation_p.Y299C|ORC3L_uc011dzo.1_Missense_Mutation_p.Y194C|ORC3L_uc011dzp.1_Missense_Mutation_p.Y194C NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 337 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) GAGCATTTCTATTCCCAGCCC 0.333 8 128 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96053766 96053766 + Missense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:96053766A>T uc003poo.1 + 5 1014 c.874A>T c.(874-876)AAT>TAT p.N292Y NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 292 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) GAGTATTCGCAATTCTCCTTA 0.373 29 80 --- --- --- --- PASS C6orf204 387119 broad.mit.edu 37 6 118887060 118887060 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:118887060T>C uc003pxz.1 - 3 1240 c.652A>G c.(652-654)ATA>GTA p.I218V C6orf204_uc003pya.1_Missense_Mutation_p.I221V|C6orf204_uc003pyb.2_Missense_Mutation_p.I218V|C6orf204_uc011ebj.1_Missense_Mutation_p.I116V|C6orf204_uc003pyc.2_Missense_Mutation_p.I221V|C6orf204_uc011ebl.1_Missense_Mutation_p.I116V NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 218 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TTTTTATTTATTTCCTTGTCC 0.423 10 158 --- --- --- --- PASS TCP10 6953 broad.mit.edu 37 6 167786681 167786681 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr6:167786681G>A uc003qvv.1 - 8 1169 c.957C>T c.(955-957)CCC>CCT p.P319P TCP10_uc003qvu.2_Intron NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 346 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CCTGTCTGGAGGGAGCGGCGT 0.537 21 114 --- --- --- --- PASS GLCCI1 113263 broad.mit.edu 37 7 8095089 8095089 + Silent SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:8095089A>G uc003srk.2 + 4 1282 c.723A>G c.(721-723)CTA>CTG p.L241L NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 241 Potential. 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GGCAGCAACTACAACGCAGTA 0.408 19 97 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31126093 31126093 + Silent SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:31126093G>T uc003tca.1 + 10 988 c.765G>T c.(763-765)CTG>CTT p.L255L ADCYAP1R1_uc003tcb.1_Silent_p.L234L|ADCYAP1R1_uc003tcc.1_Silent_p.L255L|ADCYAP1R1_uc003tcd.1_Silent_p.L255L|ADCYAP1R1_uc003tce.1_Silent_p.L255L|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 255 Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 TCACTCTGCTGGTGGAGACCT 0.527 13 72 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31793118 31793118 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:31793118G>A uc003tcm.1 - 18 2479 c.2010C>T c.(2008-2010)AGC>AGT p.S670S PDE1C_uc003tcn.1_Silent_p.S670S|PDE1C_uc003tco.1_Silent_p.S730S NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 670 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) GTGCATAGGAGCTAGATGCGT 0.468 36 142 --- --- --- --- PASS POU6F2 11281 broad.mit.edu 37 7 39125632 39125632 + Splice_Site SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:39125632G>T uc003thb.1 + 2 232 c.190_splice c.e2+1 p.G64_splice POU6F2_uc010kxo.2_Splice_Site_p.G56_splice NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 AAGCTCTTCGGTAAGTCTGTC 0.502 13 42 --- --- --- --- PASS CDK13 8621 broad.mit.edu 37 7 40102656 40102656 + Missense_Mutation SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:40102656A>G uc003thh.3 + 9 3019 c.2737A>G c.(2737-2739)ATA>GTA p.I913V CDK13_uc003thi.3_Missense_Mutation_p.I913V|CDK13_uc011kbf.1_Missense_Mutation_p.I299V|CDK13_uc003thj.2_5'UTR NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 913 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TAAAAAACCTATATTTCAAGC 0.348 37 94 --- --- --- --- PASS CAMK2B 816 broad.mit.edu 37 7 44286779 44286779 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:44286779C>A uc003tkq.2 - 6 564 c.354G>T c.(352-354)CAG>CAT p.Q118H CAMK2B_uc003tkp.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkx.2_Missense_Mutation_p.Q118H|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tks.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tku.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkv.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkt.2_Missense_Mutation_p.Q118H|CAMK2B_uc003tkw.2_Missense_Mutation_p.Q118H|CAMK2B_uc010kyc.2_Missense_Mutation_p.Q118H NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 118 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 CCAGGATCTGCTGGATACAGT 0.602 8 40 --- --- --- --- PASS MGC26647 219557 broad.mit.edu 37 7 88424128 88424128 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:88424128C>A uc003ujv.2 - 2 311 c.129G>T c.(127-129)AAG>AAT p.K43N ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 43 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) GAAGGAATTTCTTTAGGTGTA 0.398 32 187 --- --- --- --- PASS TAS2R16 50833 broad.mit.edu 37 7 122635075 122635075 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:122635075T>C uc003vkl.1 - 1 680 c.614A>G c.(613-615)AAG>AGG p.K205R NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 205 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 TTGTATCTGCTTGGTCAGTGA 0.458 27 89 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149502517 149502517 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr7:149502517C>T uc010lpk.2 + 58 8330 c.8330C>T c.(8329-8331)CCC>CTC p.P2777L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2777 TSP type-1 7. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCTGGACGCCCTGGACTTCC 0.662 8 37 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3000083 3000083 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:3000083G>T uc011kwk.1 - 41 6538 c.6148C>A c.(6148-6150)CTC>ATC p.L2050I CSMD1_uc011kwj.1_Missense_Mutation_p.L1442I|CSMD1_uc010lrg.2_Missense_Mutation_p.L118I NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2050 Extracellular (Potential).|CUB 12. 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) GCCGCGGGGAGATCCGTGCCG 0.458 8 80 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10468360 10468360 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:10468360G>T uc003wtc.2 - 4 3477 c.3248C>A c.(3247-3249)ACG>AAG p.T1083K NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1083 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CATGATCTGCGTGGAGGCAGA 0.697 7 37 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35648048 35648048 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:35648048C>T uc003xjr.1 + 17 3157 c.2829C>T c.(2827-2829)GCC>GCT p.A943A UNC5D_uc003xjs.1_Silent_p.A938A|UNC5D_uc003xju.1_Silent_p.A519A NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 943 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGATGAAGCCGACTTCAACT 0.493 8 61 --- --- --- --- PASS CHRNA6 8973 broad.mit.edu 37 8 42611340 42611340 + Silent SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:42611340C>A uc003xpj.2 - 5 1048 c.1002G>T c.(1000-1002)ACG>ACT p.T334T CHRNA6_uc011lcw.1_Silent_p.T319T NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 334 Cytoplasmic. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCATTGTGTGCGTGGTTGGGG 0.552 8 92 --- --- --- --- PASS ARMC1 55156 broad.mit.edu 37 8 66525497 66525497 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:66525497T>C uc003xvl.2 - 4 682 c.447A>G c.(445-447)ATA>ATG p.I149M ARMC1_uc011leo.1_Intron NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 149 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) CAAGGCCATCTATATGCAAAA 0.378 37 98 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 68939520 68939520 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:68939520C>A uc003xxv.1 + 5 532 c.505C>A c.(505-507)CCA>ACA p.P169T PREX2_uc003xxu.1_Missense_Mutation_p.P169T|PREX2_uc011lez.1_Missense_Mutation_p.P104T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 169 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TTTAGTAACACCAATACAAAG 0.348 4 127 --- --- --- --- PASS HEY1 23462 broad.mit.edu 37 8 80677843 80677843 + Silent SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:80677843C>A uc003ybm.2 - 5 695 c.495G>T c.(493-495)CGG>CGT p.R165R HEY1_uc010lzq.2_Silent_p.R46R|HEY1_uc003ybl.2_Silent_p.R169R NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 165 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) TCGCGGCTTCCCGCTGGGAAG 0.617 OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 53 --- --- --- --- PASS HEY1 23462 broad.mit.edu 37 8 80677875 80677875 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:80677875C>T uc003ybm.2 - 5 663 c.463G>A c.(463-465)GTT>ATT p.V155I HEY1_uc010lzq.2_Missense_Mutation_p.V36I|HEY1_uc003ybl.2_Missense_Mutation_p.V159I NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 155 Orange. angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) AGATGCGAAACCAGTCGAACT 0.592 OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 65 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104922413 104922413 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:104922413C>A uc003yls.2 + 3 1251 c.1010C>A c.(1009-1011)GCA>GAA p.A337E RIMS2_uc003ylp.2_Missense_Mutation_p.A559E|RIMS2_uc003ylw.2_Missense_Mutation_p.A367E|RIMS2_uc003ylq.2_Missense_Mutation_p.A367E|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGCAGTGAGGCATCCCCAATG 0.388 HNSCC(12;0.0054) 28 101 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113563039 113563039 + Silent SNP T A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:113563039T>A uc003ynu.2 - 27 4584 c.4425A>T c.(4423-4425)CCA>CCT p.P1475P CSMD3_uc003yns.2_Silent_p.P747P|CSMD3_uc003ynt.2_Silent_p.P1435P|CSMD3_uc011lhx.1_Silent_p.P1371P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1475 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATTTTCTGGTGGACCGTCCC 0.388 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 84 --- --- --- --- PASS TEK 7010 broad.mit.edu 37 9 27168569 27168569 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr9:27168569G>C uc003zqi.3 + 3 883 c.441G>C c.(439-441)TTG>TTC p.L147F TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.L147F|TEK_uc011lno.1_Missense_Mutation_p.L147F|TEK_uc011lnp.1_Missense_Mutation_p.L43F|TEK_uc003zqj.1_Missense_Mutation_p.L124F NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 147 Extracellular (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) AAAAGGTATTGATTAAAGAAG 0.333 18 46 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79917868 79917868 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr9:79917868G>T uc004akr.2 + 34 4110 c.3850G>T c.(3850-3852)GAT>TAT p.D1284Y VPS13A_uc004akp.3_Missense_Mutation_p.D1284Y|VPS13A_uc004akq.3_Missense_Mutation_p.D1284Y|VPS13A_uc004aks.2_Missense_Mutation_p.D1245Y|VPS13A_uc010mpo.1_5'UTR NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1284 TPR 4. Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GGAAGTACTGGATCTACTCCT 0.338 34 108 --- --- --- --- PASS ZCCHC6 79670 broad.mit.edu 37 9 88903620 88903620 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr9:88903620G>A uc004aoq.2 - 27 4675 c.4460C>T c.(4459-4461)TCA>TTA p.S1487L ZCCHC6_uc010mqe.2_Missense_Mutation_p.S387L|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S1251L|ZCCHC6_uc004aou.2_Missense_Mutation_p.S1487L NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1487 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 CCTCTTCGCTGAGGCTTTTCC 0.433 19 73 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119976866 119976866 + Silent SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr9:119976866G>C uc004bjs.1 - 3 887 c.786C>G c.(784-786)CCC>CCG p.P262P ASTN2_uc004bjr.1_Silent_p.P262P|ASTN2_uc004bjt.1_Silent_p.P262P NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 262 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CCCGCGCCTGGGGACCCAGCA 0.607 19 51 --- --- --- --- PASS DCLRE1C 64421 broad.mit.edu 37 10 14995911 14995911 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:14995911G>C uc001inn.2 - 1 184 c.99C>G c.(97-99)CAC>CAG p.H33Q DCLRE1C_uc010qbx.1_Missense_Mutation_p.H33Q|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_5'UTR|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR NM_001033855 NP_001029027 Q96SD1 DCR1C_HUMAN artemis protein isoform a 33 H->A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination. DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity ovary(1) 1 CTTTGTGGCAGTGGGACAGGA 0.647 Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ 13 53 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17276803 17276803 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:17276803G>T uc001iou.2 + 6 1407 c.994G>T c.(994-996)GCC>TCC p.A332S VIM_uc001iov.1_Missense_Mutation_p.A332S|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.A332S|VIM_uc001ioy.1_Missense_Mutation_p.A332S|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Missense_Mutation_p.A332S NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 332 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TGAAGTGGATGCCCTTAAAGG 0.517 11 89 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27326951 27326951 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:27326951C>T uc001ith.2 - 22 2577 c.2405G>A c.(2404-2406)AGA>AAA p.R802K ANKRD26_uc001itg.2_Missense_Mutation_p.R489K|ANKRD26_uc009xku.1_Missense_Mutation_p.R803K NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 802 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 ATCAGCATTTCTTCTCTTCTC 0.303 4 57 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27687254 27687254 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:27687254G>T uc001itu.2 - 4 2391 c.2273C>A c.(2272-2274)TCC>TAC p.S758Y NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 758 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TTTGGCTGAGGAAGAAACATC 0.318 13 42 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31809110 31809110 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:31809110T>C uc001ivs.3 + 7 910 c.847T>C c.(847-849)TAT>CAT p.Y283H ZEB1_uc001ivr.3_Missense_Mutation_p.Y65H|ZEB1_uc010qee.1_Missense_Mutation_p.Y65H|ZEB1_uc010qef.1_Missense_Mutation_p.Y65H|ZEB1_uc009xlj.1_Missense_Mutation_p.Y209H|ZEB1_uc010qeg.1_Missense_Mutation_p.Y142H|ZEB1_uc009xlk.1_Missense_Mutation_p.Y65H|ZEB1_uc001ivt.3_Missense_Mutation_p.Y65H|ZEB1_uc001ivu.3_Missense_Mutation_p.Y284H|ZEB1_uc001ivv.3_Missense_Mutation_p.Y263H|ZEB1_uc010qeh.1_Missense_Mutation_p.Y216H|ZEB1_uc009xlo.1_Missense_Mutation_p.Y266H|ZEB1_uc009xlp.2_Missense_Mutation_p.Y267H NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 283 C2H2-type 4; atypical. cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TTCTGGCTCCTATAGCTCACA 0.398 7 53 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508496 37508496 + Nonsense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:37508496A>T uc001iza.1 + 34 3787 c.3688A>T c.(3688-3690)AGA>TGA p.R1230* NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1286 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ACATGCACAAAGAGACCAACG 0.373 7 39 --- --- --- --- PASS SEC24C 9632 broad.mit.edu 37 10 75519790 75519790 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:75519790C>T uc001juw.2 + 6 675 c.496C>T c.(496-498)CTG>TTG p.L166L SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Silent_p.L24L|SEC24C_uc001jux.2_Silent_p.L166L|SEC24C_uc010qko.1_Silent_p.L24L|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 166 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) ACCAACATCGCTGGCTTCAGC 0.532 26 170 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105905258 105905258 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:105905258T>C uc001kxw.2 - 31 4036 c.3920A>G c.(3919-3921)TAC>TGC p.Y1307C C10orf79_uc009xxq.2_Missense_Mutation_p.Y586C NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1307 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) AAAAAGTTTGTAGAGTATATC 0.363 5 36 --- --- --- --- PASS CUZD1 50624 broad.mit.edu 37 10 124605305 124605305 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:124605305C>T uc001lgq.2 - 1 387 c.55G>A c.(55-57)GCG>ACG p.A19T CUZD1_uc009yaf.2_5'UTR|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.A19T|CUZD1_uc010qtz.1_Missense_Mutation_p.A19T NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 19 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GTCAGCTCCGCCAAACAGGAG 0.448 9 41 --- --- --- --- PASS CUZD1 50624 broad.mit.edu 37 10 124605306 124605306 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:124605306C>T uc001lgq.2 - 1 386 c.54G>A c.(52-54)TTG>TTA p.L18L CUZD1_uc009yaf.2_5'UTR|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Silent_p.L18L|CUZD1_uc010qtz.1_Silent_p.L18L NM_022034 NP_071317 Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 precursor 18 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane ovary(1)|skin(1) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TCAGCTCCGCCAAACAGGAGA 0.453 9 41 --- --- --- --- PASS FAM196A 642938 broad.mit.edu 37 10 128973697 128973697 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr10:128973697C>T uc001lju.1 - 1 1004 c.963G>A c.(961-963)CAG>CAA p.Q321Q DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.Q321Q|FAM196A_uc001ljv.1_Silent_p.Q321Q|FAM196A_uc009yap.1_Silent_p.Q321Q NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 321 ovary(2) 2 TCTGCGACGGCTGCTCACTAC 0.642 21 88 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5411216 5411216 + Silent SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:5411216G>C uc010qzc.1 + 1 588 c.588G>C c.(586-588)GTG>GTC p.V196V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 196 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAGGAAGTGATACAGCTGG 0.517 5 148 --- --- --- --- PASS SCUBE2 57758 broad.mit.edu 37 11 9051542 9051542 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:9051542G>A uc001mhh.1 - 18 2385 c.2305C>T c.(2305-2307)CGT>TGT p.R769C SCUBE2_uc001mhi.1_Missense_Mutation_p.R741C|SCUBE2_uc001mhj.1_Missense_Mutation_p.R643C NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 769 extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ACTGGGCAACGAATACATCGG 0.403 34 47 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 19955304 19955304 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:19955304C>T uc010rdm.1 + 8 1944 c.1583C>T c.(1582-1584)GCC>GTC p.A528V NAV2_uc001mpp.2_Missense_Mutation_p.A441V|NAV2_uc001mpr.3_Missense_Mutation_p.A505V NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 528 Potential. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 aaggaCCTTGCCAAGAGAGCC 0.388 24 27 --- --- --- --- PASS CKAP5 9793 broad.mit.edu 37 11 46797843 46797843 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:46797843C>T uc001ndi.1 - 24 3063 c.2953G>A c.(2953-2955)GAA>AAA p.E985K CKAP5_uc009ylg.1_Missense_Mutation_p.E871K|CKAP5_uc001ndj.1_Missense_Mutation_p.E985K NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 985 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TTGAGCTCTTCAGAAAGATCT 0.438 10 50 --- --- --- --- PASS OR4B1 119765 broad.mit.edu 37 11 48238812 48238812 + Missense_Mutation SNP T G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:48238812T>G uc010rhs.1 + 1 451 c.451T>G c.(451-453)TTT>GTT p.F151V NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 GCTGGGGGGCTTTTGTCACTC 0.453 26 60 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56949576 56949576 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:56949576C>A uc001njl.1 + 1 356 c.209C>A c.(208-210)GCC>GAC p.A70D NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 40 integral to membrane 0 CTCTTGGCAGCCGGGTTGATG 0.637 8 40 --- --- --- --- PASS CTNND1 1500 broad.mit.edu 37 11 57569663 57569663 + Missense_Mutation SNP T G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:57569663T>G uc001nmc.3 + 7 1986 c.1415T>G c.(1414-1416)ATT>AGT p.I472S CTNND1_uc001nlh.1_Missense_Mutation_p.I472S|CTNND1_uc001nlu.3_Missense_Mutation_p.I371S|CTNND1_uc001nlt.3_Missense_Mutation_p.I371S|CTNND1_uc001nls.3_Missense_Mutation_p.I371S|CTNND1_uc001nlw.3_Missense_Mutation_p.I371S|CTNND1_uc001nmf.3_Missense_Mutation_p.I472S|CTNND1_uc001nmd.3_Missense_Mutation_p.I418S|CTNND1_uc001nlk.3_Missense_Mutation_p.I418S|CTNND1_uc001nme.3_Missense_Mutation_p.I472S|CTNND1_uc001nll.3_Missense_Mutation_p.I418S|CTNND1_uc001nmg.3_Missense_Mutation_p.I418S|CTNND1_uc001nlj.3_Missense_Mutation_p.I418S|CTNND1_uc001nlr.3_Missense_Mutation_p.I418S|CTNND1_uc001nlp.3_Missense_Mutation_p.I418S|CTNND1_uc001nlx.3_Missense_Mutation_p.I149S|CTNND1_uc001nlz.3_Missense_Mutation_p.I149S|CTNND1_uc009ymn.2_Missense_Mutation_p.I149S|CTNND1_uc001nlm.3_Missense_Mutation_p.I472S|CTNND1_uc001nly.3_Missense_Mutation_p.I149S|CTNND1_uc001nmb.3_Missense_Mutation_p.I149S|CTNND1_uc001nma.3_Missense_Mutation_p.I149S|CTNND1_uc001nmi.3_Missense_Mutation_p.I371S|CTNND1_uc001nmh.3_Missense_Mutation_p.I472S|CTNND1_uc001nlq.3_Missense_Mutation_p.I371S|CTNND1_uc001nln.3_Missense_Mutation_p.I472S|CTNND1_uc001nli.3_Missense_Mutation_p.I472S|CTNND1_uc001nlo.3_Missense_Mutation_p.I371S|CTNND1_uc001nlv.3_Missense_Mutation_p.I371S NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 472 ARM 3. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) ACTGAAGTTATTACCGGTGAG 0.428 68 189 --- --- --- --- PASS MS4A6A 64231 broad.mit.edu 37 11 59943081 59943081 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:59943081G>A uc001nor.2 - 5 581 c.343C>T c.(343-345)CAT>TAT p.H115Y MS4A6A_uc001noq.2_Missense_Mutation_p.H115Y|MS4A6A_uc001nos.3_Missense_Mutation_p.H143Y|MS4A6A_uc009ymv.2_Missense_Mutation_p.H115Y|MS4A6A_uc001not.2_Missense_Mutation_p.H115Y|MS4A6A_uc010rla.1_Missense_Mutation_p.H143Y|MS4A6A_uc010rlb.1_Missense_Mutation_p.H70Y NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 115 Cytoplasmic (Potential). integral to membrane receptor activity 0 AGGCTGCTATGCACCTGAAAG 0.443 11 53 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60182994 60182994 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:60182994C>A uc001npj.2 + 5 1118 c.553C>A c.(553-555)CAA>AAA p.Q185K MS4A14_uc001npi.2_Missense_Mutation_p.Q73K|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.Q168K|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 185 integral to membrane receptor activity breast(1) 1 ATTTGTGCTTCAAGAAGAGTT 0.368 12 108 --- --- --- --- PASS SYT7 9066 broad.mit.edu 37 11 61290739 61290739 + Nonsense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:61290739G>T uc001nrv.2 - 8 921 c.915C>A c.(913-915)TAC>TAA p.Y305* SYT7_uc009ynr.2_Nonsense_Mutation_p.Y380* NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 305 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 ATACCTTCACGTAGGGGTCTA 0.557 11 75 --- --- --- --- PASS SLC22A12 116085 broad.mit.edu 37 11 64368969 64368969 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:64368969G>C uc001oam.1 + 10 2355 c.1608G>C c.(1606-1608)AAG>AAC p.K536N SLC22A12_uc001oal.1_Missense_Mutation_p.K315N|SLC22A12_uc009yps.1_Missense_Mutation_p.K502N|SLC22A12_uc001oan.1_Missense_Mutation_p.K428N NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 536 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 GGGCAGTAAAGAAGGCAACAC 0.572 4 41 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64374839 64374839 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:64374839G>A uc001oap.2 - 8 2341 c.1830C>T c.(1828-1830)GCC>GCT p.A610A NRXN2_uc001oar.2_Silent_p.A1656A|NRXN2_uc001oas.2_Silent_p.A1586A|NRXN2_uc001oao.2_Silent_p.A296A|NRXN2_uc001oaq.2_Silent_p.A1323A NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 610 Helical; (Potential). cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 ACTTATACATGGCGTAGAGGA 0.617 7 56 --- --- --- --- PASS NADSYN1 55191 broad.mit.edu 37 11 71193945 71193945 + Missense_Mutation SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:71193945A>G uc001oqn.2 + 14 1327 c.1201A>G c.(1201-1203)ACC>GCC p.T401A NADSYN1_uc001oqo.2_Missense_Mutation_p.T141A|NADSYN1_uc001oqp.2_Missense_Mutation_p.T30A NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 401 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GATCAGCTACACCCCCCAGGA 0.577 10 58 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71719783 71719783 + Missense_Mutation SNP C G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:71719783C>G uc001orl.1 - 20 5339 c.5167G>C c.(5167-5169)GAC>CAC p.D1723H NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.D1272H|NUMA1_uc001ork.1_Missense_Mutation_p.D587H|NUMA1_uc001orm.1_Missense_Mutation_p.D1709H|NUMA1_uc001orn.2_Missense_Mutation_p.D1286H NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1723 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TCCAGGCTGTCAATACTCAAG 0.562 T RARA APL 21 88 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78467899 78467899 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:78467899C>A uc001ozl.3 - 19 3170 c.2707G>T c.(2707-2709)GGC>TGC p.G903C NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 903 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CTGTCCCTGCCCACGAGGAAC 0.592 6 34 --- --- --- --- PASS TYR 7299 broad.mit.edu 37 11 88911308 88911308 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:88911308G>A uc001pcs.2 + 1 269 c.187G>A c.(187-189)GCA>ACA p.A63T NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 63 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TCTGTCCAATGCACCACTTGG 0.552 Oculocutaneous_Albinism 5 39 --- --- --- --- PASS ARHGAP20 57569 broad.mit.edu 37 11 110450560 110450560 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr11:110450560C>A uc001pkz.1 - 16 3395 c.3110G>T c.(3109-3111)TGG>TTG p.W1037L ARHGAP20_uc001pky.1_Missense_Mutation_p.W1014L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.W1001L|ARHGAP20_uc001pla.1_Missense_Mutation_p.W1001L|ARHGAP20_uc001plb.2_Missense_Mutation_p.W580L NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1037 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) ATTTCTCAACCATGTGCTGGG 0.493 18 138 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5154720 5154720 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:5154720C>A uc001qni.2 + 1 1636 c.1407C>A c.(1405-1407)GAC>GAA p.D469E NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 469 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GCATCCCTGACGCCTTCTGGT 0.582 16 120 --- --- --- --- PASS NTF3 4908 broad.mit.edu 37 12 5603793 5603793 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:5603793G>A uc001qnl.3 + 1 496 c.413G>A c.(412-414)CGG>CAG p.R138Q NTF3_uc001qnk.3_Missense_Mutation_p.R151Q NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 138 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 CGGCGGAAACGGTACGCGGAG 0.602 6 180 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9251320 9251320 + Silent SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:9251320G>C uc001qvk.1 - 15 1847 c.1734C>G c.(1732-1734)CTC>CTG p.L578L A2M_uc009zgk.1_Silent_p.L428L NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 578 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GTGAGGCTGGGAGACTTTGTG 0.537 7 10 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40681168 40681168 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:40681168T>C uc001rmg.3 + 20 2637 c.2516T>C c.(2515-2517)CTA>CCA p.L839P LRRK2_uc001rmh.1_Missense_Mutation_p.L461P NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 839 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GCATCTACACTAGCAAGAATG 0.358 8 66 --- --- --- --- PASS PRICKLE1 144165 broad.mit.edu 37 12 42858718 42858718 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:42858718C>A uc010skv.1 - 7 1405 c.1118G>T c.(1117-1119)CGA>CTA p.R373L PRICKLE1_uc001rnl.2_Missense_Mutation_p.R373L|PRICKLE1_uc010skw.1_Missense_Mutation_p.R373L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R373L NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 373 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) ATCCAATTTTCGAGAAAGGGT 0.478 10 58 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48387245 48387245 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:48387245G>A uc001rqu.2 - 15 1146 c.965C>T c.(964-966)CCA>CTA p.P322L COL2A1_uc001rqv.2_Missense_Mutation_p.P253L NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 322 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACTTACCATTGGGCCCGGAGA 0.512 16 62 --- --- --- --- PASS SILV 6490 broad.mit.edu 37 12 56355204 56355204 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:56355204C>T uc001sip.2 - 3 262 c.231G>A c.(229-231)CTG>CTA p.L77L SILV_uc001siq.2_Silent_p.L77L|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Silent_p.L77L NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 77 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 TTGCACCAATCAGTGTAGGCC 0.498 12 79 --- --- --- --- PASS LEMD3 23592 broad.mit.edu 37 12 65564642 65564642 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:65564642C>T uc001ssl.1 + 1 1272 c.1266C>T c.(1264-1266)CTC>CTT p.L422L LEMD3_uc009zqo.1_Silent_p.L422L NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 422 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) CTAGTTCACTCAGGATCAATC 0.517 31 111 --- --- --- --- PASS SOCS2 8835 broad.mit.edu 37 12 93968892 93968892 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:93968892C>T uc001tcw.1 + 3 1124 c.534C>T c.(532-534)ATC>ATT p.I178I SOCS2_uc001tcx.1_Silent_p.I178I|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.I178I|SOCS2_uc001tcz.2_3'UTR NM_003877 NP_003868 O14508 SOCS2_HUMAN suppressor of cytokine signaling-2 178 SOCS box. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity lung(1) 1 CCGGTGCCATCTGGGGACTGC 0.413 21 87 --- --- --- --- PASS TCTN1 79600 broad.mit.edu 37 12 111079360 111079360 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr12:111079360C>T uc009zvs.2 + 10 1226 c.1118C>T c.(1117-1119)CCA>CTA p.P373L TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.P313L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.P359L|TCTN1_uc001trn.3_Missense_Mutation_p.P373L|TCTN1_uc001trj.1_Missense_Mutation_p.P317L|TCTN1_uc001trk.3_Intron|HVCN1_uc001trq.1_Intron NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 373 multicellular organismal development extracellular region 0 AATACCCAGCCAGTCCCTCTC 0.423 24 102 --- --- --- --- PASS ALG5 29880 broad.mit.edu 37 13 37573414 37573414 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr13:37573414C>T uc001uvy.2 - 1 91 c.24G>A c.(22-24)CTG>CTA p.L8L ALG5_uc010teq.1_Silent_p.L8L|ALG5_uc010ter.1_RNA|EXOSC8_uc001uvz.2_5'Flank|EXOSC8_uc001uwb.2_5'Flank|EXOSC8_uc001uwa.2_5'Flank|EXOSC8_uc001uwc.2_5'Flank NM_013338 NP_037470 Q9Y673 ALG5_HUMAN dolichyl-phosphate beta-glucosyltransferase 8 Helical; Signal-anchor for type II membrane protein; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) CGAGCACCGCCAGCTGCAACA 0.602 16 20 --- --- --- --- PASS RB1 5925 broad.mit.edu 37 13 48881542 48881542 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr13:48881542G>T uc001vcb.2 + 2 430 c.264G>T c.(262-264)TTG>TTT p.L88F RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 88 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(13)|p.?(3) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGGAGTATTGGTAAGGATTT 0.224 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 61 84 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389096 20389096 + Nonsense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr14:20389096G>T uc010tkw.1 + 1 331 c.331G>T c.(331-333)GAG>TAG p.E111* NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTGGAGGGGAGATGGTGCT 0.433 47 580 --- --- --- --- PASS IPO4 79711 broad.mit.edu 37 14 24652691 24652691 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr14:24652691C>A uc001wmv.1 - 21 2223 c.2092G>T c.(2092-2094)GTC>TTC p.V698F IPO4_uc001wmt.1_Missense_Mutation_p.V176F|IPO4_uc001wmu.2_Missense_Mutation_p.V360F|IPO4_uc001wmx.1_Missense_Mutation_p.V562F|IPO4_uc001wmy.1_Missense_Mutation_p.V562F|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.V698F NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 698 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) TCTTCAAAGACACTTTCCATG 0.587 3 55 --- --- --- --- PASS KLHDC2 23588 broad.mit.edu 37 14 50246318 50246318 + Silent SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr14:50246318A>G uc001wwx.2 + 7 1039 c.639A>G c.(637-639)AAA>AAG p.K213K SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Silent_p.K213K|KLHDC2_uc010anp.2_Silent_p.K213K NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 213 nucleus protein binding ovary(1) 1 all_epithelial(31;0.000959)|Breast(41;0.0117) AATAGGGTAAAGCACCTTCAC 0.418 17 22 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28456229 28456229 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr15:28456229G>A uc001zbj.2 - 44 7094 c.6988C>T c.(6988-6990)CGG>TGG p.R2330W NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2330 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCAGCGCCCGACCTGCTTTC 0.547 5 130 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90340950 90340950 + Silent SNP G C C rs150492701 byFrequency TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr15:90340950G>C uc002bop.3 - 15 2305 c.2013C>G c.(2011-2013)GCC>GCG p.A671A NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 671 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGACCTTATGGGCACTGGGAA 0.597 5 123 --- --- --- --- PASS CD19 930 broad.mit.edu 37 16 28944428 28944428 + Silent SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr16:28944428C>A uc002drs.2 + 3 614 c.552C>A c.(550-552)CTC>CTA p.L184L uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L184L NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 184 Extracellular (Potential).|Ig-like C2-type 2. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 ACCAGAGCCTCAGCCAGGGTA 0.607 11 56 --- --- --- --- PASS CD19 930 broad.mit.edu 37 16 28944429 28944429 + Missense_Mutation SNP A C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr16:28944429A>C uc002drs.2 + 3 615 c.553A>C c.(553-555)AGC>CGC p.S185R uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.S185R NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 185 Extracellular (Potential).|Ig-like C2-type 2. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CCAGAGCCTCAGCCAGGGTAT 0.612 12 55 --- --- --- --- PASS CLEC18B 497190 broad.mit.edu 37 16 74443468 74443468 + Missense_Mutation SNP T G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr16:74443468T>G uc002fct.2 - 12 1510 c.1310A>C c.(1309-1311)AAC>ACC p.N437T CLEC18B_uc002fcu.2_Missense_Mutation_p.N428T NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 437 C-type lectin. extracellular region sugar binding 0 GATGTAACGGTTTCGGGTTTT 0.602 4 104 --- --- --- --- PASS CLEC18B 497190 broad.mit.edu 37 16 74443487 74443487 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr16:74443487G>C uc002fct.2 - 12 1491 c.1291C>G c.(1291-1293)CAG>GAG p.Q431E CLEC18B_uc002fcu.2_Missense_Mutation_p.Q422E NM_001011880 NP_001011880 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 431 C-type lectin. extracellular region sugar binding 0 TTGCAGCGCTGGTCGTTCCAG 0.592 5 115 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75263782 75263782 + Missense_Mutation SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr16:75263782T>C uc002fdv.2 - 7 2363 c.2240A>G c.(2239-2241)TAC>TGC p.Y747C BCAR1_uc002fdt.2_Missense_Mutation_p.Y200C|BCAR1_uc002fdu.2_Missense_Mutation_p.Y537C|BCAR1_uc010cgu.2_Missense_Mutation_p.Y736C|BCAR1_uc010vna.1_Missense_Mutation_p.Y745C|BCAR1_uc010vnb.1_Missense_Mutation_p.Y793C|BCAR1_uc002fdw.2_Missense_Mutation_p.Y747C|BCAR1_uc010vnc.1_Missense_Mutation_p.Y599C|BCAR1_uc010vnd.1_Missense_Mutation_p.Y765C|BCAR1_uc002fdx.2_Missense_Mutation_p.Y765C NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 747 Divergent helix-loop-helix motif. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGCTCCAGGTAGAAGAGCAG 0.672 13 64 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578507 7578507 + Missense_Mutation SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr17:7578507G>C uc002gim.2 - 5 617 c.423C>G c.(421-423)TGC>TGG p.C141W TP53_uc002gig.1_Missense_Mutation_p.C141W|TP53_uc002gih.2_Missense_Mutation_p.C141W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C9W|TP53_uc010cng.1_Missense_Mutation_p.C9W|TP53_uc002gii.1_Missense_Mutation_p.C9W|TP53_uc010cnh.1_Missense_Mutation_p.C141W|TP53_uc010cni.1_Missense_Mutation_p.C141W|TP53_uc002gij.2_Missense_Mutation_p.C141W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C48W|TP53_uc002gio.2_Missense_Mutation_p.C9W|TP53_uc010vug.1_Missense_Mutation_p.C102W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 141 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C141Y(61)|p.C141*(11)|p.C141R(10)|p.C141W(10)|p.0?(7)|p.C141C(4)|p.C141F(4)|p.C141fs*29(3)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A138_V143delAKTCPV(1)|p.A138_P142delAKTCP(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) GCTGCACAGGGCAGGTCTTGG 0.577 111 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) 26 34 --- --- --- --- PASS CHD3 1107 broad.mit.edu 37 17 7793959 7793959 + Missense_Mutation SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr17:7793959A>G uc002gje.2 + 3 434 c.284A>G c.(283-285)TAT>TGT p.Y95C CHD3_uc002gjd.2_Missense_Mutation_p.Y154C|CHD3_uc002gjf.2_Missense_Mutation_p.Y95C|CHD3_uc002gjg.1_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 95 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GGCAGTGAATATGGAACCGGA 0.478 4 21 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10429113 10429113 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr17:10429113G>T uc010coi.2 - 31 4396 c.4268C>A c.(4267-4269)ACG>AAG p.T1423K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1423K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1423 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCGCTGCTTCGTCTTTTCGAG 0.512 29 39 --- --- --- --- PASS CLTC 1213 broad.mit.edu 37 17 57733276 57733276 + Missense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr17:57733276A>T uc002ixq.1 + 6 1300 c.857A>T c.(856-858)GAT>GTT p.D286V CLTC_uc002ixp.2_Missense_Mutation_p.D286V|CLTC_uc002ixr.1_Missense_Mutation_p.D290V NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 286 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CACCTCTATGATCTTGAGACT 0.358 T ALK|TFE3 ALCL|renal 28 132 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67215713 67215713 + Missense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr17:67215713A>T uc010dfa.1 - 7 1382 c.503T>A c.(502-504)GTG>GAG p.V168E ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Missense_Mutation_p.V60E NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 168 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) GAGACCCATCACTGTCATCAG 0.308 46 63 --- --- --- --- PASS ICT1 3396 broad.mit.edu 37 17 73008861 73008861 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr17:73008861G>A uc002jmm.2 + 1 82 c.80G>A c.(79-81)CGC>CAC p.R27H NM_001545 NP_001536 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 precursor 27 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific ovary(1)|central_nervous_system(1) 2 all_lung(278;0.226) CGGTGCCCACGCCGGGCGCTG 0.667 OREG0024724 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 12 --- --- --- --- PASS NOTUM 147111 broad.mit.edu 37 17 79914879 79914879 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr17:79914879G>T uc010wvg.1 - 7 1039 c.767C>A c.(766-768)GCC>GAC p.A256D NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 256 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CACCTGGATGGCTGGGTAGCC 0.667 20 17 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44559910 44559910 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr18:44559910C>T uc002lcr.1 - 1 2079 c.1726G>A c.(1726-1728)GCA>ACA p.A576T KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 576 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CTAACGAGTGCGTGATTGTCT 0.512 36 68 --- --- --- --- PASS ZCCHC2 54877 broad.mit.edu 37 18 60223462 60223462 + Missense_Mutation SNP C G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr18:60223462C>G uc002lip.3 + 6 1340 c.1340C>G c.(1339-1341)GCT>GGT p.A447G ZCCHC2_uc002lio.2_RNA NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 447 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 TCATCACAAGCTTTTCTACAA 0.363 6 21 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77193660 77193660 + Silent SNP C G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr18:77193660C>G uc010xfg.1 + 3 1761 c.1308C>G c.(1306-1308)TCC>TCG p.S436S NFATC1_uc002lnc.1_Silent_p.S436S|NFATC1_uc010xff.1_Silent_p.S436S|NFATC1_uc002lnd.2_Silent_p.S436S|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Silent_p.S436S|NFATC1_uc010xfi.1_Silent_p.S423S|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Silent_p.S423S|NFATC1_uc002lng.2_Silent_p.S423S|NFATC1_uc010xfk.1_Silent_p.S423S NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 436 RHD. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGCCCAAGTCCCACCACCGAG 0.692 40 88 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1051539 1051539 + Silent SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:1051539T>C uc002lqw.3 + 21 3147 c.2916T>C c.(2914-2916)CCT>CCC p.P972P ABCA7_uc010dsb.1_Silent_p.P834P NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 972 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTGGATCCTGCTTCCCGCC 0.473 8 29 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063785 9063785 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:9063785G>A uc002mkp.2 - 3 23865 c.23661C>T c.(23659-23661)ACC>ACT p.T7887T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7889 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACCAGCTGACGGTTCTTGTGG 0.502 34 86 --- --- --- --- PASS FARSA 2193 broad.mit.edu 37 19 13035919 13035919 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:13035919C>T uc002mvs.2 - 8 959 c.911G>A c.(910-912)GGC>GAC p.G304D FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.G273D|FARSA_uc010dyy.1_Missense_Mutation_p.G225D NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 304 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) TGAGCCGTAGCCGCCCTGAGA 0.622 6 14 --- --- --- --- PASS EMR3 84658 broad.mit.edu 37 19 14765947 14765947 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:14765947G>A uc002mzi.3 - 6 572 c.424C>T c.(424-426)CTT>TTT p.L142F EMR3_uc010dzp.2_Missense_Mutation_p.L90F|EMR3_uc010xnv.1_Intron NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 142 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 TTGGTGAGAAGTGACTCAAAT 0.368 16 144 --- --- --- --- PASS B3GNT3 10331 broad.mit.edu 37 19 17922703 17922703 + Silent SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:17922703T>C uc002nhk.1 + 3 976 c.891T>C c.(889-891)GAT>GAC p.D297D B3GNT3_uc002nhl.1_Silent_p.D297D|B3GNT3_uc010ebd.1_Silent_p.D297D|B3GNT3_uc010ebe.1_Silent_p.D297D NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 297 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 CCATTGATGATGTCTTCCTGG 0.627 74 194 --- --- --- --- PASS JUND 3727 broad.mit.edu 37 19 18391543 18391543 + Missense_Mutation SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:18391543C>T uc002nip.2 - 1 890 c.752G>A c.(751-753)AGC>AAC p.S251N hsa-mir-3188|MI0014232_5'Flank NM_005354 NP_005345 P17535 JUND_HUMAN jun D proto-oncogene 251 regulation of transcription from RNA polymerase II promoter chromatin|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 CTCGCCGAAGCTCGGCACGTC 0.726 14 27 --- --- --- --- PASS GDF15 9518 broad.mit.edu 37 19 18499285 18499285 + Missense_Mutation SNP A C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:18499285A>C uc002niv.2 + 2 499 c.467A>C c.(466-468)CAC>CCC p.H156P NM_004864 NP_004855 Q99988 GDF15_HUMAN growth differentiation factor 15 156 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1) 1 CCCGCGCTGCACCTGCGACTG 0.701 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 11 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22941130 22941130 + Missense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:22941130A>T uc010xrh.1 - 5 1308 c.1308T>A c.(1306-1308)CAT>CAA p.H436Q NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GAATTATCTTATGTTTTCTAA 0.333 24 68 --- --- --- --- PASS ZNF585B 92285 broad.mit.edu 37 19 37677356 37677356 + Silent SNP C T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:37677356C>T uc002ofq.2 - 5 1337 c.1083G>A c.(1081-1083)AAG>AAA p.K361K uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.K175K NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 361 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGTAAAGGCCTTCCCACACT 0.418 9 156 --- --- --- --- PASS DHDH 27294 broad.mit.edu 37 19 49442786 49442786 + Silent SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:49442786G>T uc002ple.1 + 4 487 c.447G>T c.(445-447)GTG>GTT p.V149V NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase 149 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) ACCTCCGGGTGGCTCGGGCAG 0.627 25 100 --- --- --- --- PASS LILRA3 11026 broad.mit.edu 37 19 54803248 54803248 + Silent SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:54803248G>A uc002qfd.2 - 4 494 c.429C>T c.(427-429)ATC>ATT p.I143I LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.I143I NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 143 Ig-like C2-type 2. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGTCACACTGGATGGTCACAT 0.542 31 57 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55450740 55450740 + Nonsense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr19:55450740C>A uc002qih.3 - 4 1523 c.1447G>T c.(1447-1449)GAG>TAG p.E483* NLRP7_uc002qig.3_Nonsense_Mutation_p.E483*|NLRP7_uc002qii.3_Nonsense_Mutation_p.E483*|NLRP7_uc010esk.2_Nonsense_Mutation_p.E483*|NLRP7_uc010esl.2_Nonsense_Mutation_p.E511* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 483 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TCCTCCTTCTCCAGGGCGTAG 0.592 13 64 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18529263 18529263 + Missense_Mutation SNP A T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr20:18529263A>T uc002wqz.1 + 16 2197 c.1754A>T c.(1753-1755)CAT>CTT p.H585L SEC23B_uc002wra.1_Missense_Mutation_p.H585L|SEC23B_uc002wrb.1_Missense_Mutation_p.H585L|SEC23B_uc010zsb.1_Missense_Mutation_p.H567L|SEC23B_uc002wrc.1_Missense_Mutation_p.H585L NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 585 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 TTTATGTTCCATCTGAGAAGA 0.423 20 79 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36841984 36841984 + Silent SNP C G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr20:36841984C>G uc002xhy.1 - 14 3335 c.3063G>C c.(3061-3063)GTG>GTC p.V1021V KIAA1755_uc002xhv.1_Silent_p.V85V|KIAA1755_uc002xhw.1_Silent_p.V76V|KIAA1755_uc002xhx.1_Silent_p.V299V NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 1021 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) TCAGGGAGGCCACCTGCAGCC 0.672 9 25 --- --- --- --- PASS DDX27 55661 broad.mit.edu 37 20 47838119 47838119 + Missense_Mutation SNP G A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr20:47838119G>A uc002xuh.2 + 2 378 c.317G>A c.(316-318)AGC>AAC p.S106N NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 106 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GATGTCATGAGCCAACTCAAG 0.522 17 43 --- --- --- --- PASS ZFP64 55734 broad.mit.edu 37 20 50701752 50701752 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr20:50701752C>A uc002xwk.2 - 9 1631 c.1282G>T c.(1282-1284)GAC>TAC p.D428Y ZFP64_uc002xwj.2_Missense_Mutation_p.D209Y NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform d Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTTTTCAAGTCCGAGCTGATT 0.522 11 27 --- --- --- --- PASS SAMSN1 64092 broad.mit.edu 37 21 15882692 15882692 + Missense_Mutation SNP C A A TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr21:15882692C>A uc002yju.1 - 5 582 c.500G>T c.(499-501)CGT>CTT p.R167L SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.R235L NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 167 SH3. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) CACTCTGGCACGGCCACAGAA 0.502 27 77 --- --- --- --- PASS MGAT3 4248 broad.mit.edu 37 22 39884019 39884019 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr22:39884019G>T uc003axv.3 + 2 906 c.667G>T c.(667-669)GTG>TTG p.V223L MGAT3_uc010gxy.2_Missense_Mutation_p.V223L NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 223 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) CCTGCTGGACGTGCGCTTCCA 0.647 16 21 --- --- --- --- PASS FRMPD4 9758 broad.mit.edu 37 X 12734276 12734276 + Silent SNP A G G TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chrX:12734276A>G uc004cuz.1 + 15 2204 c.1698A>G c.(1696-1698)CAA>CAG p.Q566Q FRMPD4_uc011mij.1_Silent_p.Q558Q NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 566 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AAGGGGAACAAGAAGCCCAGA 0.463 27 58 --- --- --- --- PASS KLHL4 56062 broad.mit.edu 37 X 86919919 86919919 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chrX:86919919G>T uc004efb.2 + 10 2263 c.2081G>T c.(2080-2082)AGA>ATA p.R694I KLHL4_uc004efa.2_Missense_Mutation_p.R694I NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 694 Kelch 6. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GATGCACAGAGAAATGAATGG 0.318 19 26 --- --- --- --- PASS XPNPEP2 7512 broad.mit.edu 37 X 128885770 128885770 + Silent SNP T C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chrX:128885770T>C uc004eut.1 + 9 1033 c.789T>C c.(787-789)TAT>TAC p.Y263Y NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 263 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 CCTTCTTCTATTCCTACACGC 0.478 24 162 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135303015 135303015 + Missense_Mutation SNP G T T TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chrX:135303015G>T uc004ezt.2 - 16 2486 c.2395C>A c.(2395-2397)CGT>AGT p.R799S MAP7D3_uc004ezs.2_Missense_Mutation_p.R763S|MAP7D3_uc011mwc.1_Missense_Mutation_p.R781S|MAP7D3_uc010nsa.1_Missense_Mutation_p.R757S NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 799 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) GGCTCTTTACGGACCTGGCTG 0.388 99 116 --- --- --- --- PASS F9 2158 broad.mit.edu 37 X 138619203 138619203 + Silent SNP G C C TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chrX:138619203G>C uc004fas.1 + 2 152 c.123G>C c.(121-123)CTG>CTC p.L41L F9_uc004fat.1_Silent_p.L41L NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 41 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ACAAAATTCTGAATCGGCCAA 0.313 11 128 --- --- --- --- PASS MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG - - TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr8:144511954_144511956delTGG uc003yyc.1 - 1 621_623 c.621_623delCCA c.(619-624)CACCAT>CAT p.207_208HH>H NM_201589 NP_963883 Q8NHW3 MAFA_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 207_208 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.581 HNSCC(29;0.082) 5 3 --- --- --- --- PLA2G4E 123745 broad.mit.edu 37 15 42302338 42302338 + Frame_Shift_Del DEL A - - rs28736629 TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr15:42302338delA uc001zow.1 - 1 108 c.108delT c.(106-108)GGTfs p.G36fs NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E Error:Variant_position_missing_in_Q3MJ16_after_alignment phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGGCCCCCCCACCCCGGGCCT 0.592 18 14 --- --- --- --- C20orf26 26074 broad.mit.edu 37 20 20257983 20257983 + Frame_Shift_Del DEL G - - TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr20:20257983delG uc002wru.2 + 22 2753 c.2677delG c.(2677-2679)GCCfs p.A893fs C20orf26_uc010zse.1_Frame_Shift_Del_p.A873fs|C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 893 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GCTAGGAGCCGCCGGAGTCAC 0.667 86 51 --- --- --- --- SNTA1 6640 broad.mit.edu 37 20 32005618 32005618 + Frame_Shift_Del DEL C - - TCGA-39-5021-01A-01D-1441-08 TCGA-39-5021-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 4d8b4c6f-e6eb-4799-b64d-119afc691e3d 473e6ff7-6808-48ce-b586-05a46ea9f72e g.chr20:32005618delC uc002wzd.1 - 3 880 c.608delG c.(607-609)GGCfs p.G203fs SNTA1_uc010zuf.1_Frame_Shift_Del_p.G203fs NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 203 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 GGGTGTGGGGCCAGGGGAGGA 0.602 91 55 --- --- --- ---