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 AURKAIP1 54998 broad.mit.edu 37 1 1309242 1309242 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:1309242G>A uc001afb.1 - 3 649 c.539C>T c.(538-540)GCG>GTG p.A180V AURKAIP1_uc001afc.2_Missense_Mutation_p.A180V|AURKAIP1_uc001afd.2_Missense_Mutation_p.A180V|AURKAIP1_uc009vkb.1_Missense_Mutation_p.A180V NM_017900 NP_060370 Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 180 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CTTTAGCCCCGCCTTCAGCCA 0.597 APITD1 378708 broad.mit.edu 37 1 10493980 10493980 + Nonsense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:10493980C>T uc001are.2 + 2 549 c.133C>T c.(133-135)CAG>TAG p.Q45* APITD1_uc001arf.2_Nonsense_Mutation_p.Q45*|APITD1_uc001arg.2_Missense_Mutation_p.T124I|APITD1_uc001arh.2_Nonsense_Mutation_p.Q6* NM_199294 NP_954988 Q8N2Z9 CENPS_HUMAN apoptosis-inducing, TAF9-like domain 1 isoform 45 DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GTTCAGCAAACAGACCATTGC 0.488 DIRAS3 9077 broad.mit.edu 37 1 68512685 68512685 + Missense_Mutation SNP C G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:68512685C>G uc001ded.2 - 2 591 c.296G>C c.(295-297)CGC>CCC p.R99P uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 99 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 CTGCAGAGCGCGGTTGCCGTC 0.587 GON4L 54856 broad.mit.edu 37 1 155792117 155792117 + Missense_Mutation SNP T G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:155792117T>G uc001flz.2 - 4 945 c.848A>C c.(847-849)CAG>CCG p.Q283P GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.2_Missense_Mutation_p.Q283P|GON4L_uc001fmd.3_Missense_Mutation_p.Q283P|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.Q111P|GON4L_uc001fmf.2_5'Flank NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 283 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TAGATTGTGCTGCTTGGCACC 0.458 OLFML2B 25903 broad.mit.edu 37 1 161993080 161993080 + Silent SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:161993080G>A uc001gbu.2 - 1 565 c.141C>T c.(139-141)AAC>AAT p.N47N OLFML2B_uc010pkq.1_Silent_p.N47N NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 47 Potential. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGTCCGCCTCGTTTTGCAGAG 0.602 SMG7 9887 broad.mit.edu 37 1 183514093 183514093 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:183514093C>T uc001gqg.2 + 16 2138 c.2016C>T c.(2014-2016)CCC>CCT p.P672P SMG7_uc010pob.1_Silent_p.P655P|SMG7_uc001gqf.2_Silent_p.P626P|SMG7_uc001gqh.2_Silent_p.P626P|SMG7_uc001gqi.2_Silent_p.P584P|SMG7_uc010poc.1_Silent_p.P630P NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 672 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ATGTTATCCCCCCGCCTGTGG 0.443 FAM129A 116496 broad.mit.edu 37 1 184787863 184787863 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:184787863C>T uc001gra.2 - 9 1276 c.1082G>A c.(1081-1083)GGA>GAA p.G361E FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 361 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 TTCACTGAATCCCGAGCTCAC 0.537 CFHR4 10877 broad.mit.edu 37 1 196884097 196884097 + Missense_Mutation SNP A C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:196884097A>C uc001gto.2 + 5 697 c.628A>C c.(628-630)AAG>CAG p.K210Q CFHR4_uc009wyy.2_Missense_Mutation_p.K456Q|CFHR4_uc001gtp.2_Missense_Mutation_p.K457Q NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 210 Sushi 4. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TTCTTCAGAAAAGTGTGGGCC 0.358 HIST3H3 8290 broad.mit.edu 37 1 228612870 228612870 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr1:228612870G>A uc001hsx.1 - 1 157 c.157C>T c.(157-159)CGC>TGC p.R53C NM_003493 NP_003484 Q16695 H31T_HUMAN histone cluster 3, H3 53 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 Prostate(94;0.0724) TGGTAGCGGCGGATCTCGCGA 0.652 CCAR1 55749 broad.mit.edu 37 10 70496806 70496806 + Splice_Site SNP G C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr10:70496806G>C uc001joo.2 + 3 365 c.246_splice c.e3+1 p.Q82_splice CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.1_Splice_Site NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 ATTACAACAGGTAAATCTTTA 0.393 CRTAC1 55118 broad.mit.edu 37 10 99664517 99664517 + Missense_Mutation SNP C T T rs149424033 TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr10:99664517C>T uc001kou.1 - 7 1261 c.905G>A c.(904-906)CGT>CAT p.R302H CRTAC1_uc001kov.2_Missense_Mutation_p.R291H|CRTAC1_uc001kot.1_Missense_Mutation_p.R92H NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 302 FG-GAP 3; atypical. proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TTTGCCATCACGGTTGAAGTC 0.617 RHOG 391 broad.mit.edu 37 11 3849147 3849147 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr11:3849147C>T uc001lyu.2 - 2 380 c.222G>A c.(220-222)CAG>CAA p.Q74Q NM_001665 NP_001656 P84095 RHOG_HUMAN ras homolog gene family, member G precursor 74 actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194) AAACGTTGGTCTGAGGGTAGG 0.602 OR51F1 256892 broad.mit.edu 37 11 4790709 4790709 + Missense_Mutation SNP C A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr11:4790709C>A uc010qyl.1 - 1 439 c.439G>T c.(439-441)GGT>TGT p.G147C NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 147 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) ATCAGAAGACCCATTTGAATG 0.433 SAPS3 55291 broad.mit.edu 37 11 68315674 68315674 + Splice_Site SNP T G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr11:68315674T>G uc001onw.2 + 5 819 c.552_splice c.e5+2 p.N184_splice SAPS3_uc010rqb.1_Splice_Site_p.N93_splice|SAPS3_uc001onv.2_Splice_Site_p.N184_splice|SAPS3_uc001ony.3_Splice_Site_p.N184_splice|SAPS3_uc001onx.2_Splice_Site_p.N184_splice|SAPS3_uc009ysh.2_Splice_Site_p.N184_splice|SAPS3_uc001onu.2_Splice_Site_p.N184_splice|SAPS3_uc010rqc.1_Splice_Site_p.N93_splice NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) GTGCTGAATGTGAGTAGAATT 0.507 PCF11 51585 broad.mit.edu 37 11 82880169 82880169 + Missense_Mutation SNP A T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr11:82880169A>T uc001ozx.3 + 8 3137 c.2792A>T c.(2791-2793)GAT>GTT p.D931V PCF11_uc010rsu.1_Missense_Mutation_p.D1062V NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 931 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ATTAGGTTTGATGGACCTCAT 0.537 UBTFL1 642623 broad.mit.edu 37 11 89819888 89819889 + Frame_Shift_Ins INS - T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr11:89819888_89819889insT uc010rub.1 + 1 771_772 c.771_772insT c.(769-774)CGCTGGfs p.R257fs NM_001143975 NP_001137447 P0CB47 UBFL1_HUMAN upstream binding transcription factor, RNA 257_258 HMG box 2. multicellular organismal development cytoplasm|nucleus DNA binding 0 TTGGCAGACGCTGGCAGCGCAT 0.495 CNTN5 53942 broad.mit.edu 37 11 100211381 100211382 + Splice_Site INS - GT GT TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr11:100211381_100211382insGT uc001pga.2 + 22 3256 c.2917_splice c.e22+1 p.P973_splice CNTN5_uc001pgb.2_Splice_Site_p.P899_splice|CNTN5_uc010ruk.1_Splice_Site_p.P244_splice NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CAAGAAATCCCGTAAGTGACCT 0.441 ANO2 57101 broad.mit.edu 37 12 5908716 5908716 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr12:5908716G>A uc001qnm.2 - 10 1072 c.1000C>T c.(1000-1002)CGC>TGC p.R334C NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 339 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 ACTCCATAGCGCGCCCATTCT 0.423 ABCC9 10060 broad.mit.edu 37 12 21965043 21965043 + Missense_Mutation SNP G T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr12:21965043G>T uc001rfi.1 - 34 4171 c.4151C>A c.(4150-4152)ACA>AAA p.T1384K ABCC9_uc001rfh.2_Missense_Mutation_p.T1384K|ABCC9_uc001rfj.1_Missense_Mutation_p.T1348K NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1384 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGAACGTAGTGTGTGCAGTGG 0.358 PIWIL1 9271 broad.mit.edu 37 12 130847606 130847606 + Silent SNP A G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr12:130847606A>G uc001uik.2 + 18 2202 c.2112A>G c.(2110-2112)GTA>GTG p.V704V PIWIL1_uc001uij.1_Silent_p.V704V NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 704 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCGATGGCGTAGGAGACGGCC 0.478 FLT3 2322 broad.mit.edu 37 13 28597589 28597589 + Missense_Mutation SNP T A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr13:28597589T>A uc001urw.2 - 19 2398 c.2316A>T c.(2314-2316)AAA>AAT p.K772N FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.K772N NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 772 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTTCCAGCCTTTTTTGGTTTT 0.348 Mis|O AML|ALL LOC220429 220429 broad.mit.edu 37 13 50466990 50466990 + Missense_Mutation SNP T C C rs144184696 by1000genomes TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr13:50466990T>C uc001vdk.2 + 1 2446 c.2264T>C c.(2263-2265)CTG>CCG p.L755P NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 GTCTGTCCACTGAGGGGTTTT 0.517 FAM70B 348013 broad.mit.edu 37 13 114507939 114507939 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr13:114507939G>A uc001vuh.2 + 8 778 c.751G>A c.(751-753)GCA>ACA p.A251T NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 251 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) CCTGGCCTACGCAGGCTTCCG 0.677 EDDM3B 64184 broad.mit.edu 37 14 21238424 21238424 + Missense_Mutation SNP T G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr14:21238424T>G uc001vyd.2 + 2 213 c.115T>G c.(115-117)TTA>GTA p.L39V NM_022360 NP_071755 P56851 EP3B_HUMAN human epididymis-specific 3 beta precursor 39 spermatid development extracellular region ovary(1) 1 ACAGCACTACTTAAGTCCAAG 0.413 CTSG 1511 broad.mit.edu 37 14 25042969 25042969 + Silent SNP G A A rs147260851 byFrequency TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr14:25042969G>A uc001wpq.2 - 5 679 c.642C>T c.(640-642)ATC>ATT p.I214I NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 214 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) CATAGGAGACGATGCCGTGGG 0.557 CDKL1 8814 broad.mit.edu 37 14 50802891 50802891 + Silent SNP A G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr14:50802891A>G uc010anu.1 - 20 2802 c.2802T>C c.(2800-2802)TCT>TCC p.S934S CDKL1_uc001wxz.2_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) TCACAGCCCCAGAAGCAAGCA 0.567 FAM181A 90050 broad.mit.edu 37 14 94394937 94394937 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr14:94394937C>T uc001ybz.1 + 3 799 c.492C>T c.(490-492)AGC>AGT p.S164S C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.N102N|FAM181A_uc001yca.1_Silent_p.N102N NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 164 N -> S (in Ref. 2; BAC04151). 0 TGCTGAGGAACCCCTACAGGG 0.637 SLC12A6 9990 broad.mit.edu 37 15 34528395 34528395 + Silent SNP T C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr15:34528395T>C uc001zhw.2 - 23 3212 c.3048A>G c.(3046-3048)CAA>CAG p.Q1016Q SLC12A6_uc001zhv.2_Silent_p.Q965Q|SLC12A6_uc001zhx.2_Silent_p.Q1001Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.Q957Q|SLC12A6_uc001zib.2_Silent_p.Q1007Q|SLC12A6_uc001zic.2_Silent_p.Q1016Q|SLC12A6_uc010bau.2_Silent_p.Q1016Q|SLC12A6_uc001zid.2_Silent_p.Q957Q|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.Q828Q NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 1016 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTTTCACCAATTGTGCCTGAG 0.413 LMAN1L 79748 broad.mit.edu 37 15 75116023 75116023 + Silent SNP G A A rs147808783 byFrequency TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr15:75116023G>A uc002ayt.1 + 12 1325 c.1323G>A c.(1321-1323)GCG>GCA p.A441A LMAN1L_uc010bke.1_Silent_p.A429A|CPLX3_uc002ayu.1_5'Flank NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 441 Lumenal (Potential). ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 GGGGCCCGGCGGTGAGGGGAA 0.622 Unknown 0 broad.mit.edu 37 16 66940 66940 + Silent SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr16:66940G>A uc002cfg.1 - 5 1355 c.696C>T c.(694-696)AGC>AGT p.S232S NM_182905 NP_878908 WAS protein family homolog 1 GCTCTCTCTTGCTGATGGACA 0.597 ZG16B 124220 broad.mit.edu 37 16 2880250 2880251 + Frame_Shift_Ins INS - G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr16:2880250_2880251insG uc002cru.2 + 1 78_79 c.2_3insG c.(1-3)ATGfs p.M1fs NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor 1 extracellular region sugar binding ovary(1) 1 TCCTTCTGGATGGGGGCCCAGG 0.683 DNAH3 55567 broad.mit.edu 37 16 20974846 20974846 + Missense_Mutation SNP A T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr16:20974846A>T uc010vbe.1 - 53 10360 c.10360T>A c.(10360-10362)TGG>AGG p.W3454R DNAH3_uc010vbd.1_Missense_Mutation_p.W889R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3454 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TCATGGGGCCAGGCCGAGTCA 0.532 SRCAP 10847 broad.mit.edu 37 16 30748842 30748842 + Missense_Mutation SNP G C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr16:30748842G>C uc002dze.1 + 34 7866 c.7481G>C c.(7480-7482)TGT>TCT p.C2494S SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2494 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) attcctccttgttcttctcct 0.149 SRCAP 10847 broad.mit.edu 37 16 30748845 30748845 + Missense_Mutation SNP C G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr16:30748845C>G uc002dze.1 + 34 7869 c.7484C>G c.(7483-7485)TCT>TGT p.S2495C SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2495 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) cctccttgttcttctcctgcc 0.154 ITGAD 3681 broad.mit.edu 37 16 31429674 31429674 + Missense_Mutation SNP G T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr16:31429674G>T uc002ebv.1 + 22 2718 c.2669G>T c.(2668-2670)AGG>ATG p.R890M ITGAD_uc010cap.1_Missense_Mutation_p.R891M NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 890 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CTGGGAGACAGGATGCTTATG 0.572 PLA2G15 23659 broad.mit.edu 37 16 68288909 68288909 + Silent SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr16:68288909G>A uc002evr.2 + 3 455 c.372G>A c.(370-372)CTG>CTA p.L124L PLA2G15_uc010vld.1_Silent_p.L124L|PLA2G15_uc010vle.1_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 124 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 CCTTCTCACTGGAGTTCCTGG 0.572 ITGAE 3682 broad.mit.edu 37 17 3651273 3651273 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr17:3651273C>T uc002fwo.3 - 17 2197 c.2098G>A c.(2098-2100)GTC>ATC p.V700I NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 700 Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ACATTCACGACGCCGTTGAAG 0.542 DVL2 1856 broad.mit.edu 37 17 7134114 7134114 + Missense_Mutation SNP A C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr17:7134114A>C uc002gez.1 - 2 479 c.197T>G c.(196-198)GTG>GGG p.V66G DVL2_uc010vtr.1_Missense_Mutation_p.V66G|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.V66G NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 66 DIX. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 TTCCTTCACCACCCTGCCAAG 0.577 Unknown 0 broad.mit.edu 37 17 16734727 16734727 + Nonsense_Mutation SNP C A A rs659569 TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr17:16734727C>A uc010vwr.1 - 3 848 c.406G>T c.(406-408)GAG>TAG p.E136* SubName: Full=cDNA FLJ53570, highly similar to Keratin, type I cytoskeletal 16; CACACCTCCTCGTGGTTCTTC 0.632 LGALS9B 284194 broad.mit.edu 37 17 20363749 20363749 + Missense_Mutation SNP G C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr17:20363749G>C uc002gxa.1 - 2 112 c.47C>G c.(46-48)CCC>CGC p.P16R LGALS9B_uc002gwz.1_Missense_Mutation_p.P16R|LGALS9B_uc010vzh.1_Intron NM_001042685 NP_001036150 Q3B8N2 LEG9B_HUMAN galectin-9 like 16 sugar binding skin(1) 1 CCCAGAAAAGGGGACGGCCTG 0.592 KRTAP4-8 728224 broad.mit.edu 37 17 39254142 39254142 + Silent SNP A G G rs151141551 by1000genomes TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr17:39254142A>G uc010wfo.1 - 1 234 c.195T>C c.(193-195)TGT>TGC p.C65C NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 65 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|9. keratin filament 0 AGCTGGGGCGACAGCAGGTGG 0.602 IGF2BP1 10642 broad.mit.edu 37 17 47115627 47115627 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr17:47115627C>T uc002iom.2 + 6 833 c.499C>T c.(499-501)CGC>TGC p.R167C IGF2BP1_uc010dbj.2_Intron NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 167 CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 TGAGAATGGGCGCCGAGGGGG 0.637 TNFSF14 8740 broad.mit.edu 37 19 6669978 6669978 + Missense_Mutation SNP C A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr19:6669978C>A uc002mfk.1 - 2 485 c.103G>T c.(103-105)GTG>TTG p.V35L TNFSF14_uc002mfj.1_Missense_Mutation_p.V35L NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 35 Cytoplasmic (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 ACCCGGGCCACACTGCACGAC 0.632 ZNF560 147741 broad.mit.edu 37 19 9579010 9579010 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr19:9579010C>T uc002mlp.1 - 10 823 c.613G>A c.(613-615)GCA>ACA p.A205T ZNF560_uc010dwr.1_Missense_Mutation_p.A99T NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TGGTTTCTTGCCTGTTAACAC 0.338 OR1I1 126370 broad.mit.edu 37 19 15198267 15198267 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr19:15198267C>T uc010xoe.1 + 1 391 c.391C>T c.(391-393)CGT>TGT p.R131C NM_001004713 NP_001004713 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 CCACCCACAGCGTTACTTGGT 0.567 NLRP4 147945 broad.mit.edu 37 19 56388509 56388509 + Silent SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr19:56388509G>A uc002qmd.3 + 8 3095 c.2673G>A c.(2671-2673)ACG>ACA p.T891T NLRP4_uc002qmf.2_Silent_p.T816T|NLRP4_uc010etf.2_Silent_p.T666T NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 891 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGACGCATACGGATTGCCGCT 0.478 ASB3 51130 broad.mit.edu 37 2 53941692 53941692 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr2:53941692G>A uc002rxg.1 - 7 944 c.809C>T c.(808-810)ACT>ATT p.T270I ASB3_uc002rxh.1_Missense_Mutation_p.T197I|ASB3_uc002rxi.3_Missense_Mutation_p.T308I|ASB3_uc010yoo.1_Missense_Mutation_p.T187I NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 270 ANK 8. intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGCCCGGTTAGTAAGTGGTAT 0.393 RGPD5 84220 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr2:113127775G>C uc002ths.1 - 23 5355 c.5278C>G c.(5278-5280)CCT>GCT p.P1760A RGPD8_uc010fkk.1_Missense_Mutation_p.P1620A NM_005054 NP_005045 Q99666 RGPD5_HUMAN RANBP2-like and GRIP domain containing 5 isoform 1760 intracellular transport cytoplasm binding 0 GAACGGGAAGGATTTTCTTCC 0.308 DPP10 57628 broad.mit.edu 37 2 116593731 116593731 + Splice_Site SNP A G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr2:116593731A>G uc002tla.1 + 22 2408 c.1951_splice c.e22-2 p.G651_splice DPP10_uc002tlb.1_Splice_Site_p.G601_splice|DPP10_uc002tlc.1_Splice_Site_p.G647_splice|DPP10_uc002tle.2_Splice_Site_p.G655_splice|DPP10_uc002tlf.1_Splice_Site_p.G644_splice NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TTTCCCCCCCAGGGTTATGGT 0.264 RBM45 129831 broad.mit.edu 37 2 178990756 178990756 + Silent SNP T C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr2:178990756T>C uc002ulv.2 + 9 1370 c.1278T>C c.(1276-1278)AAT>AAC p.N426N NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 428 RRM 3. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CAGGAAAAAATGTGGGGTATG 0.348 ZDBF2 57683 broad.mit.edu 37 2 207169709 207169709 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr2:207169709C>T uc002vbp.2 + 5 707 c.457C>T c.(457-459)CAT>TAT p.H153Y NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 153 nucleic acid binding|zinc ion binding ovary(3) 3 GGAGTTTGTTCATAAAATTGG 0.448 BARD1 580 broad.mit.edu 37 2 215609857 215609857 + Frame_Shift_Del DEL C - - TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr2:215609857delC uc002veu.2 - 9 1972 c.1837delG c.(1837-1839)GCAfs p.A613fs BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 613 BRCT 1. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTTGAACTGCATCACCAGGA 0.338 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome STK35 140901 broad.mit.edu 37 20 2097899 2097899 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr20:2097899C>T uc010gak.2 + 3 1480 c.1480C>T c.(1480-1482)CGC>TGC p.R494C STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.R361C NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 494 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CCCCCAAAAACGCAGGACTTC 0.512 TRMT6 51605 broad.mit.edu 37 20 5925484 5925485 + Frame_Shift_Del DEL TA - - TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr20:5925484_5925485delTA uc002wmh.1 - 3 454_455 c.332_333delTA c.(331-333)ATAfs p.I111fs TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_RNA NM_015939 NP_057023 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 111 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity pancreas(1) 1 TCAAAGCTTTTATGTCATCTTG 0.342 CHD6 84181 broad.mit.edu 37 20 40043955 40043955 + Silent SNP T C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr20:40043955T>C uc002xka.1 - 34 6988 c.6810A>G c.(6808-6810)GGA>GGG p.G2270G CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2270 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TGACAATCTGTCCAGTCACAG 0.537 SYS1 90196 broad.mit.edu 37 20 43995683 43995683 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr20:43995683C>T uc002xnv.2 + 4 657 c.399C>T c.(397-399)ATC>ATT p.I133I SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron NM_033542 NP_291020 Q8N2H4 SYS1_HUMAN SYS1 Golgi-localized integral membrane protein 133 Helical; (Potential). protein transport Golgi membrane|integral to membrane skin(1) 1 Myeloproliferative disorder(115;0.0122) TGGCTGTCATCGGGGAGTACC 0.577 TSHZ2 128553 broad.mit.edu 37 20 51870964 51870964 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr20:51870964C>T uc002xwo.2 + 2 1923 c.967C>T c.(967-969)CGC>TGC p.R323C NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 323 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GGCTAAGAAACGCGTTTTTGA 0.453 SLC5A3 6526 broad.mit.edu 37 21 35468403 35468404 + Frame_Shift_Ins INS - G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr21:35468403_35468404insG uc002yto.2 + 2 1418_1419 c.906_907insG c.(904-909)GCTGGCfs p.A302fs MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 302_303 Cytoplasmic (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 CTCTTATGGCTGGCTTCTTAAA 0.470 CSF2RB 1439 broad.mit.edu 37 22 37326752 37326752 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr22:37326752G>A uc003aqa.3 + 8 1109 c.892G>A c.(892-894)GGC>AGC p.G298S CSF2RB_uc003aqc.3_Missense_Mutation_p.G304S NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 298 Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) GGAGGGGCTCGGCAGCCTCCA 0.647 ENTHD1 150350 broad.mit.edu 37 22 40283548 40283548 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr22:40283548G>A uc003ayg.2 - 2 456 c.205C>T c.(205-207)CGC>TGC p.R69C NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 69 ENTH. ovary(2)|skin(1) 3 Melanoma(58;0.0749) TACACGTGGCGCCAGTTCTTC 0.403 CYP2D6 1565 broad.mit.edu 37 22 42524294 42524294 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr22:42524294C>T uc003bce.2 - 5 815 c.725G>A c.(724-726)CGC>CAC p.R242H uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Missense_Mutation_p.R191H NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 242 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 CTTTTGGAAGCGTAGGACCTT 0.607 XIRP1 165904 broad.mit.edu 37 3 39225931 39225931 + Missense_Mutation SNP G T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr3:39225931G>T uc003cjk.1 - 2 5227 c.5006C>A c.(5005-5007)TCC>TAC p.S1669Y XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.S352Y NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1669 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AAATGTTGGGGAGGAGGGAGA 0.537 KALRN 8997 broad.mit.edu 37 3 124053259 124053259 + Missense_Mutation SNP C T T rs147539685 TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr3:124053259C>T uc003ehg.2 + 9 1685 c.1558C>T c.(1558-1560)CGG>TGG p.R520W KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 520 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 TCACCAGCGACGGCTGGAGAG 0.622 MSL2 55167 broad.mit.edu 37 3 135870091 135870091 + Missense_Mutation SNP A T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr3:135870091A>T uc003eqx.1 - 2 2365 c.1632T>A c.(1630-1632)AGT>AGA p.S544R MSL2_uc011bmb.1_Missense_Mutation_p.S470R NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 544 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 CATTTATTACACTGGTGCTGG 0.468 AASDH 132949 broad.mit.edu 37 4 57220268 57220269 + Frame_Shift_Ins INS - A A rs148777026 TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr4:57220268_57220269insA uc003hbn.2 - 8 1472_1473 c.1319_1320insT c.(1318-1320)TTGfs p.L440fs AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Frame_Shift_Ins_p.L287fs|AASDH_uc003hbo.2_Frame_Shift_Ins_p.L340fs|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Frame_Shift_Ins_p.L440fs|AASDH_uc003hbp.2_Frame_Shift_Ins_p.L440fs NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 440 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CTTTTCGTCCCAAAAAAAAAAT 0.361 AFM 173 broad.mit.edu 37 4 74361147 74361147 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr4:74361147G>A uc003hhb.2 + 9 1220 c.1189G>A c.(1189-1191)GCG>ACG p.A397T NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 397 Albumin 2. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTACCGTTACGCGGTAGGTTC 0.378 GRID2 2895 broad.mit.edu 37 4 94316790 94316790 + Missense_Mutation SNP T G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr4:94316790T>G uc011cdt.1 + 9 1536 c.1278T>G c.(1276-1278)AAT>AAG p.N426K GRID2_uc011cdu.1_Missense_Mutation_p.N331K NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 426 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CAGGTCTGAATGGGTCACTGA 0.433 ADAM29 11086 broad.mit.edu 37 4 175898213 175898213 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr4:175898213G>A uc003iuc.2 + 5 2207 c.1537G>A c.(1537-1539)GCA>ACA p.A513T ADAM29_uc003iud.2_Missense_Mutation_p.A513T|ADAM29_uc010irr.2_Missense_Mutation_p.A513T|ADAM29_uc011cki.1_Missense_Mutation_p.A513T NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 513 Cys-rich.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.A513T(1) skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGGTGCAGGCGCAAATACTGC 0.418 TRIML1 339976 broad.mit.edu 37 4 189060967 189060967 + Silent SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr4:189060967G>A uc003izm.1 + 1 370 c.255G>A c.(253-255)GTG>GTA p.V85V NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 85 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GGTCCCAGGTGCTGCAGAGCG 0.652 PCDHGB4 8641 broad.mit.edu 37 5 140769313 140769313 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr5:140769313C>T uc003lkc.1 + 1 1862 c.1862C>T c.(1861-1863)ACG>ATG p.T621M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T621M NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 621 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTGCGCACGGGCGAAGTG 0.692 ATP10B 23120 broad.mit.edu 37 5 160061402 160061402 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr5:160061402C>T uc003lym.1 - 12 2187 c.1340G>A c.(1339-1341)CGT>CAT p.R447H ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.2_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 447 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) GATGGTGCAACGTCGGAACAC 0.507 C6orf138 442213 broad.mit.edu 37 6 47976383 47976383 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr6:47976383C>T uc011dwm.1 - 2 928 c.843G>A c.(841-843)CCG>CCA p.P281P C6orf138_uc011dwn.1_Silent_p.P45P|C6orf138_uc003ozf.2_Silent_p.P298P NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 298 Helical; (Potential).|SSD. integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TGGCGAAGAACGGGATTCCCA 0.488 DEFB114 245928 broad.mit.edu 37 6 49928111 49928111 + Missense_Mutation SNP C T T rs146020038 TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr6:49928111C>T uc011dwp.1 - 2 104 c.104G>A c.(103-105)CGT>CAT p.R35H NM_001037499 NP_001032588 Q30KQ6 DB114_HUMAN beta-defensin 114 precursor 35 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) TCTTTTACAACGACCGTAACG 0.353 CD109 135228 broad.mit.edu 37 6 74475666 74475666 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr6:74475666G>A uc003php.2 + 11 1546 c.1121G>A c.(1120-1122)CGT>CAT p.R374H CD109_uc010kaz.2_Missense_Mutation_p.R374H|CD109_uc003phq.2_Missense_Mutation_p.R374H|CD109_uc010kba.2_Missense_Mutation_p.R297H NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 374 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 AAGGTAACTCGTGCTGATGGC 0.358 TTLL2 83887 broad.mit.edu 37 6 167754816 167754816 + Silent SNP G C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr6:167754816G>C uc003qvs.1 + 3 1516 c.1428G>C c.(1426-1428)GTG>GTC p.V476V TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 476 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGAAAGCTGTGAGTGTGCGTC 0.512 PRKAR1B 5575 broad.mit.edu 37 7 618975 618975 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr7:618975G>A uc003siu.1 - 10 915 c.809C>T c.(808-810)GCG>GTG p.A270V PRKAR1B_uc003siv.2_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.1_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_RNA NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 270 cAMP 2. A -> R (in Ref. 1; AAC37564). activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) GGGCTCCAGCGCATCCGCCAC 0.612 NUPL2 11097 broad.mit.edu 37 7 23239787 23239787 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr7:23239787G>A uc003svu.2 + 7 954 c.695G>A c.(694-696)GGC>GAC p.G232D NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.G109D|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.G109D|NUPL2_uc011jyx.1_Missense_Mutation_p.G4D NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 232 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 ttgttTGTAGGCTTTCCAGTC 0.318 STK31 56164 broad.mit.edu 37 7 23825130 23825130 + Nonsense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr7:23825130C>T uc003sws.3 + 18 2249 c.2182C>T c.(2182-2184)CGA>TGA p.R728* STK31_uc003swt.3_Nonsense_Mutation_p.R705*|STK31_uc011jze.1_Nonsense_Mutation_p.R728*|STK31_uc010kuq.2_Nonsense_Mutation_p.R705*|STK31_uc003swv.1_5'Flank NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 728 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 GAGCTTGGAACGAGATCTTCT 0.403 WNT2 7472 broad.mit.edu 37 7 116960726 116960726 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr7:116960726C>T uc003viz.2 - 2 505 c.205G>A c.(205-207)GTG>ATG p.V69M WNT2_uc003vja.2_Translation_Start_Site NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 69 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCGGCCACGCCCTGGCTA 0.602 MGAM 8972 broad.mit.edu 37 7 141759386 141759386 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr7:141759386G>A uc003vwy.2 + 32 3988 c.3934G>A c.(3934-3936)GTC>ATC p.V1312I NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1312 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGGATGCGGGTCATCCTCAT 0.507 STC1 6781 broad.mit.edu 37 8 23709003 23709003 + Silent SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr8:23709003G>A uc003xdw.1 - 3 587 c.303C>T c.(301-303)AAC>AAT p.N101N NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 101 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGGTGACCCCGTTGGCGATGC 0.517 UNC5D 137970 broad.mit.edu 37 8 35407016 35407016 + Missense_Mutation SNP G C C TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr8:35407016G>C uc003xjr.1 + 2 638 c.310G>C c.(310-312)GAC>CAC p.D104H UNC5D_uc003xjs.1_Missense_Mutation_p.D99H NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 104 Extracellular (Potential).|Ig-like. 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) AGAGACTCTGGACGAGAGCTC 0.522 PTDSS1 9791 broad.mit.edu 37 8 97285591 97285591 + Missense_Mutation SNP A G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr8:97285591A>G uc003yht.1 + 2 346 c.244A>G c.(244-246)ATC>GTC p.I82V PTDSS1_uc003yhu.1_5'UTR NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 82 Helical; (Potential). phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CTTCTTTCTTATCATCAGTGT 0.373 TEK 7010 broad.mit.edu 37 9 27217701 27217701 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr9:27217701C>T uc003zqi.3 + 19 3449 c.3007C>T c.(3007-3009)CGC>TGC p.R1003C TEK_uc011lno.1_Missense_Mutation_p.R960C|TEK_uc011lnp.1_Missense_Mutation_p.R855C NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 1003 Protein kinase.|Cytoplasmic (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) GCTCCCAGTGCGCTGGATGGC 0.483 ZNF618 114991 broad.mit.edu 37 9 116811355 116811355 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr9:116811355C>T uc004bid.2 + 15 1872 c.1773C>T c.(1771-1773)AGC>AGT p.S591S ZNF618_uc004bic.2_Silent_p.S498S|ZNF618_uc011lxi.1_Silent_p.S558S|ZNF618_uc011lxj.1_Silent_p.S559S|ZNF618_uc010mvb.2_Silent_p.S181S NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCGCGACAGCGGTGACCTTG 0.592 RABGAP1 23637 broad.mit.edu 37 9 125748579 125748579 + Silent SNP G T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr9:125748579G>T uc011lzh.1 + 4 605 c.471G>T c.(469-471)TCG>TCT p.S157S RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Silent_p.S157S NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 157 PID. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 GCTGTGCCTCGGTAAATGCTC 0.453 CAMSAP1 157922 broad.mit.edu 37 9 138714648 138714648 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chr9:138714648G>A uc004cgr.3 - 11 1859 c.1859C>T c.(1858-1860)CCG>CTG p.P620L CAMSAP1_uc004cgq.3_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P342L NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 620 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GATGCTCCTCGGTCTCCCTTC 0.542 TBL1X 6907 broad.mit.edu 37 X 9656243 9656243 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:9656243G>A uc010ndq.2 + 7 912 c.544G>A c.(544-546)GTT>ATT p.V182I TBL1X_uc004csq.3_Missense_Mutation_p.V131I|TBL1X_uc010ndr.2_Missense_Mutation_p.V131I|TBL1X_uc004csr.2_Missense_Mutation_p.V182I|TBL1X_uc004css.2_Missense_Mutation_p.V133I NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 182 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) CTCAGCCGGCGTTTCCCACCA 0.448 POLA1 5422 broad.mit.edu 37 X 24759540 24759540 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:24759540C>T uc004dbl.2 + 21 2270 c.2247C>T c.(2245-2247)GCC>GCT p.A749A NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 749 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) GGAAAGATGCCAAGTTCATTT 0.348 SATL1 340562 broad.mit.edu 37 X 84362599 84362599 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:84362599G>A uc011mqx.1 - 1 1376 c.1376C>T c.(1375-1377)CCA>CTA p.P459L SATL1_uc004een.2_Missense_Mutation_p.P459L NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 272 Gln-rich. N-acetyltransferase activity breast(2) 2 GCTAGTGCCTGGTTGTCTCAT 0.592 PCDH11X 27328 broad.mit.edu 37 X 91132676 91132676 + Missense_Mutation SNP C G G TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:91132676C>G uc004efk.1 + 2 2282 c.1437C>G c.(1435-1437)AAC>AAG p.N479K PCDH11X_uc004efl.1_Missense_Mutation_p.N479K|PCDH11X_uc004efo.1_Missense_Mutation_p.N479K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N479K|PCDH11X_uc004efm.1_Missense_Mutation_p.N479K|PCDH11X_uc004efn.1_Missense_Mutation_p.N479K|PCDH11X_uc004efh.1_Missense_Mutation_p.N479K|PCDH11X_uc004efj.1_Missense_Mutation_p.N479K NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 479 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTGAGAATAACTCTCCTGGCA 0.433 PCDH11X 27328 broad.mit.edu 37 X 91132704 91132704 + Missense_Mutation SNP A T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:91132704A>T uc004efk.1 + 2 2310 c.1465A>T c.(1465-1467)AGT>TGT p.S489C PCDH11X_uc004efl.1_Missense_Mutation_p.S489C|PCDH11X_uc004efo.1_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.1_Missense_Mutation_p.S489C|PCDH11X_uc004efm.1_Missense_Mutation_p.S489C|PCDH11X_uc004efn.1_Missense_Mutation_p.S489C|PCDH11X_uc004efh.1_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 489 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GACGAAAGTAAGTGCAATGGA 0.453 LONRF3 79836 broad.mit.edu 37 X 118108897 118108897 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:118108897C>T uc004eqw.2 + 1 185 c.154C>T c.(154-156)CGG>TGG p.R52W LONRF3_uc004eqx.2_Missense_Mutation_p.R52W|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 52 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 TCTACCGACGCGGGAGCCAGA 0.677 ZBTB33 10009 broad.mit.edu 37 X 119388318 119388318 + Missense_Mutation SNP G A A TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:119388318G>A uc004esn.1 + 2 1276 c.1048G>A c.(1048-1050)GTC>ATC p.V350I ZBTB33_uc010nqm.1_Missense_Mutation_p.V350I NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 350 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGACTCGGCCGTCAGTAATAC 0.413 STAG2 10735 broad.mit.edu 37 X 123176479 123176479 + Frame_Shift_Del DEL C - - TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:123176479delC uc004etz.3 + 6 785 c.446delC c.(445-447)ACTfs p.T149fs STAG2_uc004eua.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.2_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.2_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.2_Frame_Shift_Del_p.T149fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 149 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CGAAAAATGACTGAAGAATTC 0.299 RBMX 27316 broad.mit.edu 37 X 135961585 135961586 + Frame_Shift_Ins INS - T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:135961585_135961586insT uc004fae.1 - 2 211_212 c.1_2insA c.(1-3)ATGfs p.M1fs RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.1_Translation_Start_Site|RBMX_uc004faf.1_Translation_Start_Site|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 1 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TGCTTCAACCATGTTTTTTTTT 0.391 PLXNB3 5365 broad.mit.edu 37 X 153033075 153033075 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:153033075C>T uc004fii.2 + 3 967 c.793C>T c.(793-795)CGC>TGC p.R265C PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Intron|PLXNB3_uc010nuk.2_Missense_Mutation_p.R288C|PLXNB3_uc011mzd.1_Intron NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 265 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CTACGTGGCCCGCGTCTGCCT 0.607 FLNA 2316 broad.mit.edu 37 X 153588484 153588484 + Missense_Mutation SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:153588484C>T uc004fkk.2 - 22 3928 c.3679G>A c.(3679-3681)GGG>AGG p.G1227R FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1227R NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1227 Filamin 10. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGTAGGCCCCGGGGCAGAGG 0.637 PLXNA3 55558 broad.mit.edu 37 X 153694763 153694763 + Silent SNP C T T TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 937fb2a6-3856-4086-a327-8d8e593b7b7b ca93c2cd-b482-4edb-9ca8-a2e900c4f94a g.chrX:153694763C>T uc004flm.2 + 16 3017 c.2844C>T c.(2842-2844)TCC>TCT p.S948S NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 948 IPT/TIG 2.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCGGCGTCCGGGGGCACAC 0.672