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 EXOSC10 5394 broad.mit.edu 37 1 11151619 11151619 + Missense_Mutation SNP C G G rs146190133 TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:11151619C>G uc001asa.2 - 4 458 c.408G>C c.(406-408)AAG>AAC p.K136N EXOSC10_uc001asb.2_Missense_Mutation_p.K136N|EXOSC10_uc009vmy.1_Missense_Mutation_p.K136N NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 136 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GCTGTTGATTCTTGTTTACAC 0.458 UBIAD1 29914 broad.mit.edu 37 1 11334002 11334002 + Silent SNP C G G TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:11334002C>G uc001asg.2 + 1 748 c.414C>G c.(412-414)CTC>CTG p.L138L NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 138 Helical; (Potential). menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GAGTCTTCCTCTACACGTTGG 0.537 TRIM62 55223 broad.mit.edu 37 1 33646782 33646782 + Silent SNP G C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:33646782G>C uc001bxb.2 - 1 890 c.252C>G c.(250-252)CTC>CTG p.L84L NM_018207 NP_060677 Q9BVG3 TRI62_HUMAN tripartite motif-containing 62 84 intracellular zinc ion binding 0 Myeloproliferative disorder(586;0.0393) GGCGCGCGTTGAGGATGGCGT 0.701 TCHH 7062 broad.mit.edu 37 1 152080828 152080828 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:152080828C>T uc001ezp.2 - 2 4865 c.4865G>A c.(4864-4866)CGC>CAC p.R1622H TCHH_uc009wne.1_Missense_Mutation_p.R1622H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1622 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCGTCTTCGCGGAATTTTCT 0.602 OR10J3 441911 broad.mit.edu 37 1 159283794 159283794 + Missense_Mutation SNP T A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:159283794T>A uc010piu.1 - 1 656 c.656A>T c.(655-657)TAT>TTT p.Y219F NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GATGAGGACATAGGAGATAAA 0.502 SLAMF6 114836 broad.mit.edu 37 1 160456502 160456502 + Missense_Mutation SNP C T T rs151001421 TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:160456502C>T uc001fwe.1 - 8 1054 c.994G>A c.(994-996)GTG>ATG p.V332M SLAMF6_uc001fwd.1_Missense_Mutation_p.V331M|SLAMF6_uc010pjh.1_Missense_Mutation_p.V282M|SLAMF6_uc010pji.1_Missense_Mutation_p.V221M NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 332 integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GCAACTTACACGACATTGTCA 0.483 KLHDC8A 55220 broad.mit.edu 37 1 205312607 205312607 + Silent SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:205312607G>A uc001hcf.1 - 2 694 c.126C>T c.(124-126)AAC>AAT p.N42N KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.N42N NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 42 Kelch 2. ovary(1) 1 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) TGGGGACGCCGTTGTCGTCAC 0.716 RAB3GAP2 25782 broad.mit.edu 37 1 220340949 220340949 + Missense_Mutation SNP C A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:220340949C>A uc010puk.1 - 25 3039 c.2875G>T c.(2875-2877)GCT>TCT p.A959S RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A539S|RAB3GAP2_uc001hmh.2_5'Flank NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 959 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) TCTTCATTAGCCAGTTTTAAT 0.398 HHIPL2 79802 broad.mit.edu 37 1 222717502 222717502 + Silent SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:222717502G>A uc001hnh.1 - 2 409 c.351C>T c.(349-351)TAC>TAT p.Y117Y NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 117 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) TTTCGGCGTCGTAGAGGTGGG 0.567 NUP133 55746 broad.mit.edu 37 1 229606471 229606471 + Silent SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr1:229606471G>A uc001htn.2 - 15 2024 c.1932C>T c.(1930-1932)GCC>GCT p.A644A NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 644 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ACAGCTTTTCGGCATGCTCAC 0.493 ARHGAP22 58504 broad.mit.edu 37 10 49667897 49667897 + Silent SNP G A A rs78086414 TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr10:49667897G>A uc001jgt.2 - 5 786 c.489C>T c.(487-489)CAC>CAT p.H163H ARHGAP22_uc001jgs.2_Silent_p.H73H|ARHGAP22_uc001jgu.2_Silent_p.H179H|ARHGAP22_uc010qgl.1_Silent_p.H120H|ARHGAP22_uc010qgm.1_Silent_p.H169H|ARHGAP22_uc001jgv.2_Translation_Start_Site NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 163 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 ACTTCCGCTCGTGGTGGACTG 0.642 TLL2 7093 broad.mit.edu 37 10 98156950 98156950 + Silent SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr10:98156950C>T uc001kml.1 - 11 1603 c.1377G>A c.(1375-1377)GCG>GCA p.A459A TLL2_uc009xvf.1_Silent_p.A437A NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 459 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) AACCTTCGTACGCTGCAAAGA 0.622 OR4D10 390197 broad.mit.edu 37 11 59244963 59244963 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr11:59244963C>T uc001nnz.1 + 1 61 c.61C>T c.(61-63)CGG>TGG p.R21W NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GACCCAGAATCGGGAAGTGAG 0.413 PKNOX2 63876 broad.mit.edu 37 11 125255470 125255470 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr11:125255470C>T uc001qbu.2 + 6 565 c.251C>T c.(250-252)ACG>ATG p.T84M PKNOX2_uc010saz.1_Missense_Mutation_p.T55M|PKNOX2_uc010sba.1_Missense_Mutation_p.T55M|PKNOX2_uc010sbb.1_Missense_Mutation_p.T20M NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 84 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CCGCTCCTGACGCTGCTGTTT 0.567 Unknown 0 broad.mit.edu 37 12 92920 92920 + Missense_Mutation SNP C G G rs145563795 by1000genomes TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr12:92920C>G uc010sdi.1 - 1 99 c.71G>C c.(70-72)AGT>ACT p.S24T uc010sdj.1_RNA SubName: Full=DEAD/H box polypeptide 11 like 11; ACTCACAAGACTGTGATCCAA 0.622 LTBR 4055 broad.mit.edu 37 12 6497971 6497971 + Silent SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr12:6497971C>T uc001qny.1 + 8 949 c.781C>T c.(781-783)CTG>TTG p.L261L LTBR_uc010sfc.1_Silent_p.L242L|LTBR_uc001qnz.1_Silent_p.L256L NM_002342 NP_002333 P36941 TNR3_HUMAN lymphotoxin beta receptor precursor 261 Cytoplasmic (Potential). apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity lung(2) 2 TGCAGGATCGCTGCTCAAGAG 0.562 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr12:57485446T>C uc001smz.2 + 2 1000 c.622T>C c.(622-624)TTC>CTC p.F208L NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTCGCCCCCCTTCTCCCCCCC 0.716 SLC17A8 246213 broad.mit.edu 37 12 100811900 100811900 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr12:100811900G>A uc010svi.1 + 11 1704 c.1391G>A c.(1390-1392)TGT>TAT p.C464Y SLC17A8_uc009ztx.2_Missense_Mutation_p.C414Y NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 464 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 GGAATGGTCTGTCCCCTCATT 0.498 SIAH3 283514 broad.mit.edu 37 13 46358034 46358034 + Silent SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr13:46358034G>A uc001vap.2 - 2 376 c.294C>T c.(292-294)CAC>CAT p.H98H NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 98 SIAH-type; degenerate.|His-rich. multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 CCGGGTTGGCGTGCAGCCCCG 0.428 NRXN3 9369 broad.mit.edu 37 14 80328137 80328137 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr14:80328137G>A uc001xun.2 + 17 3507 c.3016G>A c.(3016-3018)GCC>ACC p.A1006T NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.A582T|NRXN3_uc010asw.2_Missense_Mutation_p.A404T|NRXN3_uc001xur.3_Missense_Mutation_p.A377T NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1588 Helical; (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCTCCTGTACGCCATGTACAA 0.597 DIO3 1735 broad.mit.edu 37 14 102028607 102028607 + Silent SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr14:102028607C>T uc010txq.1 + 2 920 c.696C>T c.(694-696)TTC>TTT p.F232F DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 232 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) GCGCCTACTTCGAGCGTCTCT 0.632 GOLGA6L6 727832 broad.mit.edu 37 15 20743796 20743796 + Silent SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr15:20743796C>T uc001ytk.2 - 4 499 c.408G>A c.(406-408)ACG>ACA p.T136T NM_001145004 NP_001138476 A8MZA4 GG6L6_HUMAN golgi autoantigen, golgin subfamily a, 6-like 6 136 Potential. 0 TTTTCTGACACGTAAGGATTC 0.493 CEP152 22995 broad.mit.edu 37 15 49076318 49076318 + Splice_Site SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr15:49076318C>T uc001zwy.2 - 10 1208 c.1174_splice c.e10-1 p.E392_splice CEP152_uc001zwz.2_Splice_Site_p.E392_splice|CEP152_uc001zxa.1_Splice_Site_p.E299_splice NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AAATGTCTTCCTAAATAGAAA 0.294 SMG1 23049 broad.mit.edu 37 16 18853724 18853724 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr16:18853724C>T uc002dfm.2 - 40 6635 c.6272G>A c.(6271-6273)CGT>CAT p.R2091H SMG1_uc010bwb.2_Missense_Mutation_p.R1951H|SMG1_uc010bwa.2_Missense_Mutation_p.R822H|SMG1_uc002dfo.3_Missense_Mutation_p.R389H NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2091 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TTCTTCAAGACGCAAGATGTA 0.408 FAM83G 644815 broad.mit.edu 37 17 18875008 18875008 + Silent SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr17:18875008G>A uc002guw.2 - 6 2303 c.2136C>T c.(2134-2136)GAC>GAT p.D712D SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 712 ovary(1)|central_nervous_system(1) 2 CTGGGAAGCCGTCTTTATCCC 0.622 KCNJ12 3768 broad.mit.edu 37 17 21319359 21319359 + Silent SNP G A A rs147653221 byFrequency TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr17:21319359G>A uc002gyv.1 + 3 1410 c.705G>A c.(703-705)CCG>CCA p.P235P NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 235 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) TCATCAAGCCGCGGGTCACCG 0.632 Prostate(3;0.18) CNTNAP1 8506 broad.mit.edu 37 17 40843451 40843451 + Missense_Mutation SNP C A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr17:40843451C>A uc002iay.2 + 15 2482 c.2266C>A c.(2266-2268)CAG>AAG p.Q756K CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 756 Extracellular (Potential).|Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCCTGTCACTCAGGTAGTGAT 0.587 METRNL 284207 broad.mit.edu 37 17 81042908 81042908 + Missense_Mutation SNP C A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr17:81042908C>A uc002kgh.2 + 2 390 c.265C>A c.(265-267)CTC>ATC p.L89I METRNL_uc002kgi.2_Missense_Mutation_p.L7I NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation 89 extracellular region 0 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AACAGGTGCTCTCATCGTTAA 0.617 METRNL 284207 broad.mit.edu 37 17 81042984 81042984 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr17:81042984C>T uc002kgh.2 + 2 466 c.341C>T c.(340-342)TCC>TTC p.S114F METRNL_uc002kgi.2_Missense_Mutation_p.S32F NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation 114 extracellular region 0 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TTCACGGACTCCTCGGGGGCC 0.592 MUC16 94025 broad.mit.edu 37 19 9026244 9026244 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr19:9026244G>A uc002mkp.2 - 14 36946 c.36742C>T c.(36742-36744)CGT>TGT p.R12248C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12250 SEA 2.|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 CCAGTGCGACGCATGTCCTCC 0.542 MUC16 94025 broad.mit.edu 37 19 9085463 9085463 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr19:9085463C>T uc002mkp.2 - 1 6556 c.6352G>A c.(6352-6354)GCG>ACG p.A2118T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2118 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 AAAGTACTCGCGGCTGTATTC 0.488 MAN2B1 4125 broad.mit.edu 37 19 12768940 12768940 + Missense_Mutation SNP C G G TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr19:12768940C>G uc002mub.2 - 10 1322 c.1246G>C c.(1246-1248)GAG>CAG p.E416Q MAN2B1_uc010dyv.1_Missense_Mutation_p.E415Q NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 416 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 ACCAGCGCCTCCAGCTGGTTG 0.687 IL12RB1 3594 broad.mit.edu 37 19 18171938 18171938 + Silent SNP C A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr19:18171938C>A uc002nhw.1 - 15 1849 c.1785G>T c.(1783-1785)GGG>GGT p.G595G IL12RB1_uc010xqb.1_Silent_p.G595G|IL12RB1_uc002nhx.1_Silent_p.G635G NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 595 Cytoplasmic (Potential). cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 TTACCTCCTTCCCTCCAGGGA 0.552 MLL4 9757 broad.mit.edu 37 19 36212329 36212329 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr19:36212329C>T uc010eei.2 + 3 2080 c.2080C>T c.(2080-2082)CGG>TGG p.R694W NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 694 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCTGAGCCTCGGGCAGTGGG 0.642 NLRP12 91662 broad.mit.edu 37 19 54327194 54327194 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr19:54327194G>A uc002qch.3 - 1 455 c.235C>T c.(235-237)CGG>TGG p.R79W NLRP12_uc002qci.3_Missense_Mutation_p.R79W|NLRP12_uc002qcj.3_Missense_Mutation_p.R79W|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R79W NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 79 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTGTTTATCCGCTCAAAGGTG 0.582 LILRB2 10288 broad.mit.edu 37 19 54782762 54782762 + Missense_Mutation SNP C G G TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr19:54782762C>G uc002qfb.2 - 6 1126 c.860G>C c.(859-861)AGC>ACC p.S287T LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.S287T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.S287T|LILRB2_uc010yet.1_Missense_Mutation_p.S171T|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 287 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTAGGAGCGGCTCACAGGGCC 0.647 TUBA4B 80086 broad.mit.edu 37 2 220136351 220136351 + Missense_Mutation SNP G A A rs3731892 by1000genomes TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr2:220136351G>A uc002vkv.1 + 4 821 c.656G>A c.(655-657)AGG>AAG p.R219K TUBA4B_uc002vku.2_RNA NR_003063 RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B; 0 CTGCAGAAAAGGTATACCACG 0.552 TUBA4B 80086 broad.mit.edu 37 2 220136371 220136371 + Missense_Mutation SNP T C C rs3731894 by1000genomes TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr2:220136371T>C uc002vkv.1 + 4 841 c.676T>C c.(676-678)TGG>CGG p.W226R TUBA4B_uc002vku.2_RNA NR_003063 RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B; 0 GAGCAGCTGTTGGTGGCAGAG 0.547 SPEG 10290 broad.mit.edu 37 2 220353375 220353375 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr2:220353375G>A uc010fwg.2 + 33 8014 c.8014G>A c.(8014-8016)GTG>ATG p.V2672M NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2672 Ig-like 9. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTCCTGTACCGTGGCTGTGGC 0.672 C2orf85 285093 broad.mit.edu 37 2 242814085 242814085 + Silent SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr2:242814085C>T uc010fzu.1 + 2 401 c.378C>T c.(376-378)TAC>TAT p.Y126Y NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 126 integral to membrane ovary(1) 1 AGGACTGCTACGGGGATGGCC 0.711 DPPA4 55211 broad.mit.edu 37 3 109046838 109046838 + Missense_Mutation SNP T G G TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr3:109046838T>G uc003dxq.3 - 7 967 c.912A>C c.(910-912)GAA>GAC p.E304D DPPA4_uc011bho.1_3'UTR NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 304 nucleus protein binding upper_aerodigestive_tract(1) 1 TGATATTCTATTCCCATTGGA 0.368 HCLS1 3059 broad.mit.edu 37 3 121356079 121356079 + Missense_Mutation SNP C T T rs142478875 by1000genomes TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr3:121356079C>T uc003eeh.3 - 7 604 c.479G>A c.(478-480)CGG>CAG p.R160Q HCLS1_uc011bjj.1_Intron|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 160 Cortactin 3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) CACCCCGTACCGGCCACCAAA 0.557 SR140 23350 broad.mit.edu 37 3 142741859 142741859 + Missense_Mutation SNP A G G TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr3:142741859A>G uc003evh.1 + 12 1282 c.1183A>G c.(1183-1185)AAT>GAT p.N395D SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.N395D|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.N394D|SR140_uc003evl.1_5'Flank NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 395 Pro-rich. RNA processing nucleus nucleotide binding|RNA binding 0 AAAAAACCCTAATGCTCCTAT 0.418 SLIT2 9353 broad.mit.edu 37 4 20544133 20544133 + Silent SNP T C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr4:20544133T>C uc003gpr.1 + 21 2364 c.2160T>C c.(2158-2160)AGT>AGC p.S720S SLIT2_uc003gps.1_Silent_p.S712S NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 720 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 ATGACAATAGTTGCTCCCCAC 0.413 PKD2 5311 broad.mit.edu 37 4 88973158 88973158 + Missense_Mutation SNP A G G TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr4:88973158A>G uc003hre.2 + 7 1630 c.1564A>G c.(1564-1566)ATA>GTA p.I522V PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 522 Helical; (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) AGTGGTAGCTATAGGAATTAA 0.323 GPR98 84059 broad.mit.edu 37 5 90055389 90055389 + Missense_Mutation SNP G T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr5:90055389G>T uc003kju.2 + 58 12200 c.12104G>T c.(12103-12105)GGA>GTA p.G4035V GPR98_uc003kjt.2_Missense_Mutation_p.G1741V|GPR98_uc003kjv.2_Missense_Mutation_p.G1635V NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4035 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGAGTATTTGGATTTGAAGAA 0.368 ETF1 2107 broad.mit.edu 37 5 137846888 137846888 + Silent SNP T C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr5:137846888T>C uc003ldc.3 - 8 1029 c.864A>G c.(862-864)GGA>GGG p.G288G ETF1_uc011cyv.1_Silent_p.G274G|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Silent_p.G255G NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 288 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAAAGTATCGTCCTACGATTA 0.368 PCDHB6 56130 broad.mit.edu 37 5 140530986 140530986 + Missense_Mutation SNP T C C rs142117819 by1000genomes TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr5:140530986T>C uc003lir.2 + 1 1148 c.1148T>C c.(1147-1149)ATA>ACA p.I383T PCDHB6_uc011dah.1_Missense_Mutation_p.I247T NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 383 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTTGTTCAATAGAGAACAAT 0.463 PCDHB7 56129 broad.mit.edu 37 5 140554290 140554290 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr5:140554290G>A uc003lit.2 + 1 2048 c.1874G>A c.(1873-1875)CGT>CAT p.R625H NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 625 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGAGGTGCGTACCGCCAGG 0.697 TREML1 340205 broad.mit.edu 37 6 41121804 41121804 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr6:41121804G>A uc011duc.1 - 2 112 c.68C>T c.(67-69)CCT>CTT p.P23L TREML1_uc003opx.2_Missense_Mutation_p.P23L|TREML1_uc011dud.1_Intron NM_178174 NP_835468 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid 23 Ig-like V-type.|Extracellular (Potential). calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) CAGCACCTCAGGGAGGCTGCC 0.607 GFRAL 389400 broad.mit.edu 37 6 55196594 55196594 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr6:55196594C>T uc003pcm.1 + 2 190 c.104C>T c.(103-105)GCA>GTA p.A35V NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 35 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTACGTGATGCAAATGGATGT 0.338 BCLAF1 9774 broad.mit.edu 37 6 136599627 136599627 + Missense_Mutation SNP C T T rs149799182 TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr6:136599627C>T uc003qgx.1 - 4 645 c.392G>A c.(391-393)CGG>CAG p.R131Q BCLAF1_uc003qgw.1_Missense_Mutation_p.R131Q|BCLAF1_uc003qgy.1_Missense_Mutation_p.R129Q|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R129Q NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 131 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTATATGACCGGCGAGATCT 0.448 USP42 84132 broad.mit.edu 37 7 6183728 6183728 + Missense_Mutation SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:6183728G>A uc011jwo.1 + 9 1014 c.891G>A c.(889-891)ATG>ATA p.M297I USP42_uc011jwn.1_Missense_Mutation_p.M142I|USP42_uc010kth.1_Missense_Mutation_p.M230I|USP42_uc011jwp.1_Missense_Mutation_p.M297I|USP42_uc011jwq.1_Missense_Mutation_p.M104I|USP42_uc011jwr.1_Missense_Mutation_p.M142I NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 297 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GTAAAAAGATGGTTCCAGCTT 0.333 URGCP 55665 broad.mit.edu 37 7 43917037 43917037 + Silent SNP G C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:43917037G>C uc003tiw.2 - 6 2082 c.2025C>G c.(2023-2025)GTC>GTG p.V675V URGCP_uc003tiu.2_Silent_p.V632V|URGCP_uc003tiv.2_Silent_p.V600V|URGCP_uc003tix.2_Silent_p.V666V|URGCP_uc003tiy.2_Silent_p.V632V|URGCP_uc003tiz.2_Silent_p.V632V|URGCP_uc011kbj.1_Silent_p.V632V NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 675 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GGAGCCCTGTGACCCAGCGGA 0.642 URGCP 55665 broad.mit.edu 37 7 43917123 43917123 + Missense_Mutation SNP G T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:43917123G>T uc003tiw.2 - 6 1996 c.1939C>A c.(1939-1941)CCA>ACA p.P647T URGCP_uc003tiu.2_Missense_Mutation_p.P604T|URGCP_uc003tiv.2_Missense_Mutation_p.P572T|URGCP_uc003tix.2_Missense_Mutation_p.P638T|URGCP_uc003tiy.2_Missense_Mutation_p.P604T|URGCP_uc003tiz.2_Missense_Mutation_p.P604T|URGCP_uc011kbj.1_Missense_Mutation_p.P604T NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 647 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GCCAAGCCTGGGAAGTGGGCA 0.622 URGCP 55665 broad.mit.edu 37 7 43918034 43918034 + Missense_Mutation SNP G C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:43918034G>C uc003tiw.2 - 6 1085 c.1028C>G c.(1027-1029)TCT>TGT p.S343C URGCP_uc003tiu.2_Missense_Mutation_p.S300C|URGCP_uc003tiv.2_Missense_Mutation_p.S268C|URGCP_uc003tix.2_Missense_Mutation_p.S334C|URGCP_uc003tiy.2_Missense_Mutation_p.S300C|URGCP_uc003tiz.2_Missense_Mutation_p.S300C|URGCP_uc011kbj.1_Missense_Mutation_p.S300C NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 343 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CAGCCAGTGAGACCCGATGTC 0.458 URGCP 55665 broad.mit.edu 37 7 43918768 43918768 + Missense_Mutation SNP G C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:43918768G>C uc003tiw.2 - 6 351 c.294C>G c.(292-294)ATC>ATG p.I98M URGCP_uc003tiu.2_Missense_Mutation_p.I55M|URGCP_uc003tiv.2_Missense_Mutation_p.I23M|URGCP_uc003tix.2_Missense_Mutation_p.I89M|URGCP_uc003tiy.2_Missense_Mutation_p.I55M|URGCP_uc003tiz.2_Missense_Mutation_p.I55M|URGCP_uc011kbj.1_Missense_Mutation_p.I55M NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 98 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 TGTCAAAACTGATCTGCAGAG 0.507 EGFR 1956 broad.mit.edu 37 7 55224307 55224307 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:55224307C>T uc003tqk.2 + 9 1334 c.1088C>T c.(1087-1089)ACC>ATC p.T363I EGFR_uc003tqh.2_Missense_Mutation_p.T363I|EGFR_uc003tqi.2_Missense_Mutation_p.T363I|EGFR_uc003tqj.2_Missense_Mutation_p.T363I|EGFR_uc010kzg.1_Missense_Mutation_p.T318I|EGFR_uc011kco.1_Missense_Mutation_p.T310I|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 363 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAAAACTGCACCTCCATCAGT 0.413 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) NCF1 653361 broad.mit.edu 37 7 74193497 74193497 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:74193497C>T uc003ubb.2 + 3 293 c.223C>T c.(223-225)CTC>TTC p.L75F NCF1_uc010lbs.1_Missense_Mutation_p.L75F|NCF1_uc011kfh.1_Intron NM_000265 NP_000256 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 75 PX. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity skin(1) 1 CATCCCCCACCTCCCAGGTGA 0.552 TRIM4 89122 broad.mit.edu 37 7 99516656 99516656 + Silent SNP G A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:99516656G>A uc003usd.2 - 1 499 c.369C>T c.(367-369)ATC>ATT p.I123I TRIM4_uc003use.2_Silent_p.I123I|TRIM4_uc011kjc.1_5'UTR|TRIM4_uc003usf.2_Silent_p.I123I NM_033017 NP_148977 Q9C037 TRIM4_HUMAN tripartite motif protein TRIM4 isoform alpha 123 B box-type. protein trimerization cytoplasm|plasma membrane zinc ion binding ovary(1)|kidney(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) AGGCCTCGTCGATGGGTGCCA 0.612 LHFPL3 375612 broad.mit.edu 37 7 103969236 103969237 + In_Frame_Ins INS - GCC GCC TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:103969236_103969237insGCC uc003vce.2 + 1 133_134 c.9_10insGCC c.(7-12)insGCC p.14_15insA LHFPL3_uc003vcf.2_In_Frame_Ins_p.14_15insA NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 Error:Variant_position_missing_in_Q86UP9_after_alignment_1 integral to membrane 0 gAATGCCCGGAgccgccgccgc 0.396 PIK3CG 5294 broad.mit.edu 37 7 106508126 106508126 + Silent SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:106508126C>T uc003vdv.3 + 2 205 c.120C>T c.(118-120)ATC>ATT p.I40I PIK3CG_uc003vdu.2_Silent_p.I40I|PIK3CG_uc003vdw.2_Silent_p.I40I NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 40 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TCATCCCCATCGAGTTCGTGC 0.662 C7orf66 154907 broad.mit.edu 37 7 108524126 108524126 + Missense_Mutation SNP G A A rs143724624 TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:108524126G>A uc003vfo.2 - 2 334 c.286C>T c.(286-288)CGG>TGG p.R96W NM_001024607 NP_001019778 A4D0T2 CG066_HUMAN hypothetical protein LOC154907 96 integral to membrane ovary(2) 2 TGGACAATCCGTAGATATGCA 0.348 GPR37 2861 broad.mit.edu 37 7 124387325 124387325 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:124387325C>T uc003vli.2 - 2 1747 c.1096G>A c.(1096-1098)GTA>ATA p.V366I NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 366 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 TACATCTGTACGTTGGTGGCA 0.463 AKR1B10 57016 broad.mit.edu 37 7 134212671 134212671 + Missense_Mutation SNP C T T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr7:134212671C>T uc003vrr.2 + 1 328 c.8C>T c.(7-9)ACG>ATG p.T3M NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 3 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 ACCATGGCCACGTTTGTGGAG 0.438 EBF2 64641 broad.mit.edu 37 8 25718712 25718712 + Missense_Mutation SNP C A A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr8:25718712C>A uc003xes.1 - 13 1212 c.1195G>T c.(1195-1197)GCT>TCT p.A399S PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 399 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AGAGCTTCAGCAATGTCTGCG 0.493 LY96 23643 broad.mit.edu 37 8 74922304 74922304 + Missense_Mutation SNP A G G TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr8:74922304A>G uc003yad.2 + 3 362 c.271A>G c.(271-273)AAA>GAA p.K91E NM_015364 NP_056179 Q9Y6Y9 LY96_HUMAN MD-2 protein precursor 91 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding 0 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TCCAAAGCGCAAAGAAGTTAT 0.343 TAF2 6873 broad.mit.edu 37 8 120831592 120831592 + Nonsense_Mutation SNP G C C TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr8:120831592G>C uc003you.2 - 3 563 c.293C>G c.(292-294)TCA>TGA p.S98* NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 98 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTACTGTTTTGATTCACTGTG 0.289 C9orf131 138724 broad.mit.edu 37 9 35045372 35045372 + Missense_Mutation SNP C G G rs3739871 byFrequency TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 Somatic Phase_I Capture Illumina GAIIx c69ca476-9e11-4f6e-a4f5-6952f792a580 e73172bd-bb87-4131-901c-5f3eb2117df8 g.chr9:35045372C>G uc003zvw.2 + 2 2775 c.2746C>G c.(2746-2748)CCA>GCA p.P916A C9orf131_uc003zvu.2_Missense_Mutation_p.P868A|C9orf131_uc003zvv.2_Missense_Mutation_p.P843A|C9orf131_uc003zvx.2_Missense_Mutation_p.P881A NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 916 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTATCTATCTCCAGGCCCAGG 0.537