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 CA6 765 broad.mit.edu 37 1 9009386 9009386 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:9009386G>A uc001apm.2 + 2 168 c.144G>A c.(142-144)TCG>TCA p.S48S CA6_uc009vmn.2_Intron NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 48 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) AGAGACAGTCGCCTATCAACC 0.592000 HSPG2 3339 broad.mit.edu 37 1 22188576 22188576 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:22188576G>A uc001bfj.2 - 38 4813 c.4773C>T c.(4771-4773)TGC>TGT p.C1591C HSPG2_uc009vqd.2_Silent_p.C1592C NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 1591 Laminin EGF-like 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CACAAAGCTCGCAGAACTCCC 0.517000 MYOM3 127294 broad.mit.edu 37 1 24418800 24418800 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:24418800C>T uc001bin.3 - 11 1259 c.1096G>A c.(1096-1098)GAG>AAG p.E366K MYOM3_uc001bim.3_Missense_Mutation_p.E23K|MYOM3_uc001bio.2_Missense_Mutation_p.E366K|MYOM3_uc001bip.1_Missense_Mutation_p.E23K NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 366 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TTCTCGGCCTCGGCATCTGAA 0.637000 KLF17 128209 broad.mit.edu 37 1 44595138 44595138 + Silent SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:44595138A>C uc001clp.2 + 2 253 c.195A>C c.(193-195)GCA>GCC p.A65A KLF17_uc009vxf.1_Silent_p.A28A NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 65 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CTCACAGCGCAGAGATGCTGG 0.557000 C8A 731 broad.mit.edu 37 1 57347266 57347266 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:57347266T>C uc001cyo.2 + 5 745 c.613T>C c.(613-615)TAC>CAC p.Y205H NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 205 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TGATGAGAAATACTTTCGGAA 0.488000 LPHN2 23266 broad.mit.edu 37 1 82302724 82302724 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:82302724T>G uc001dit.3 + 3 236 c.55T>G c.(55-57)TTC>GTC p.F19V LPHN2_uc001dis.2_Missense_Mutation_p.F19V|LPHN2_uc001diu.2_Missense_Mutation_p.F19V|LPHN2_uc001div.2_Missense_Mutation_p.F19V|LPHN2_uc009wcd.2_Missense_Mutation_p.F19V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 19 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TGTAATCAGCTTCTTACCAAA 0.328000 WNT2B 7482 broad.mit.edu 37 1 113058897 113058897 + Missense_Mutation SNP G G A rs35058556 byFrequency TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:113058897G>A uc001ecb.2 + 3 1054 c.539G>A c.(538-540)CGT>CAT p.R180H WNT2B_uc001eca.2_Missense_Mutation_p.R161H|WNT2B_uc009wgg.2_Missense_Mutation_p.R88H NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 180 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CATGACCAGCGTGGGGACTTT 0.587000 FLG2 388698 broad.mit.edu 37 1 152327633 152327633 + Missense_Mutation SNP T T A rs144938115 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:152327633T>A uc001ezw.3 - 3 2702 c.2629A>T c.(2629-2631)AGC>TGC p.S877C uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 877 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCTGAGCTTGACCTGTGT 0.502000 C1orf156 92342 broad.mit.edu 37 1 169762277 169762277 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:169762277G>A uc001ggn.2 - 2 838 c.560C>T c.(559-561)GCT>GTT p.A187V C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 187 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTTTCCCAGCAAATTTCAC 0.398000 OBSCN 84033 broad.mit.edu 37 1 228437778 228437778 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:228437778G>A uc009xez.1 + 14 4190 c.4146G>A c.(4144-4146)ACG>ACA p.T1382T OBSCN_uc001hsn.2_Silent_p.T1382T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1382 Ig-like 14. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAGAGGTGACGTGGTACAAGG 0.642000 SIPA1L2 57568 broad.mit.edu 37 1 232581434 232581434 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:232581434G>A uc001hvg.2 - 9 3352 c.3194C>T c.(3193-3195)ACG>ATG p.T1065M SIPA1L2_uc001hvf.2_Missense_Mutation_p.T139M NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1065 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCGGTGCCACGTGGTGTTCCT 0.637000 LGALS8 3964 broad.mit.edu 37 1 236708103 236708103 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:236708103A>T uc001hxz.1 + 10 1073 c.692A>T c.(691-693)AAC>ATC p.N231I LGALS8_uc001hxw.1_Missense_Mutation_p.N273I|LGALS8_uc001hxy.1_Missense_Mutation_p.N273I|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.N231I|LGALS8_uc001hyb.1_Missense_Mutation_p.N231I|LGALS8_uc001hyc.1_Missense_Mutation_p.N214I NM_201543 NP_963837 O00214 LEG8_HUMAN galectin-8 isoform b 231 Galectin 2. cytoplasm|extracellular space sugar binding ovary(1) 1 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTACACTTGAACCCACGCCTG 0.358000 FMN2 56776 broad.mit.edu 37 1 240555838 240555838 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:240555838A>C uc010pyd.1 + 15 5111 c.4886A>C c.(4885-4887)AAT>ACT p.N1629T FMN2_uc010pye.1_Missense_Mutation_p.N1633T|FMN2_uc010pyf.1_Missense_Mutation_p.N244T|FMN2_uc010pyg.1_Missense_Mutation_p.N225T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1629 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCAGAGGAAAATTCACTGACA 0.343000 OR2T12 127064 broad.mit.edu 37 1 248457994 248457994 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:248457994T>G uc010pzj.1 - 1 887 c.887A>C c.(886-888)AAG>ACG p.K296T NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CAGGGCTTCCTTGACCTCACT 0.473000 OR2M7 391196 broad.mit.edu 37 1 248487429 248487429 + Missense_Mutation SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr1:248487429A>G uc010pzk.1 - 1 442 c.442T>C c.(442-444)TCC>CCC p.S148P NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGATCCAGGAGAAGGCAGTC 0.473000 ZMYND11 10771 broad.mit.edu 37 10 288050 288050 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr10:288050C>T uc010pzt.1 + 10 1349 c.921C>T c.(919-921)GAC>GAT p.D307D ZMYND11_uc001ifk.2_Silent_p.D306D|ZMYND11_uc010pzu.1_Silent_p.D307D|ZMYND11_uc010pzv.1_Silent_p.D252D|ZMYND11_uc010pzw.1_Silent_p.D222D|ZMYND11_uc001ifm.2_Silent_p.D253D|ZMYND11_uc010pzx.1_Silent_p.D307D|ZMYND11_uc001ifn.2_Silent_p.D253D|ZMYND11_uc009xhg.2_Silent_p.D290D|ZMYND11_uc009xhh.2_Silent_p.D181D|ZMYND11_uc010pzy.1_Silent_p.D159D NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 267 PWWP. cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) ATCAAGTCGACGTTCGCTTCT 0.428000 WAPAL 23063 broad.mit.edu 37 10 88220968 88220968 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr10:88220968C>T uc001kdo.2 - 10 2889 c.2447G>A c.(2446-2448)CGG>CAG p.R816Q WAPAL_uc009xsv.2_Missense_Mutation_p.R130Q|WAPAL_uc001kdn.2_Missense_Mutation_p.R853Q|WAPAL_uc009xsw.2_Missense_Mutation_p.R810Q NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 816 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 ACCCAAAAGCCGGAGTTCTTC 0.333000 KIF20B 9585 broad.mit.edu 37 10 91533796 91533796 + Silent SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr10:91533796A>G uc001kgs.1 + 33 5526 c.5454A>G c.(5452-5454)ACA>ACG p.T1818T KIF20B_uc001kgr.1_Silent_p.T1778T|KIF20B_uc001kgt.1_Silent_p.T1029T|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1818 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GAACAAAAACAGCCAAATAAA 0.279000 HECTD2 143279 broad.mit.edu 37 10 93250996 93250996 + Missense_Mutation SNP G G A rs149760758 byFrequency TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr10:93250996G>A uc001khl.2 + 12 1331 c.1231G>A c.(1231-1233)GAT>AAT p.D411N LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.D415N|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_Missense_Mutation_p.D61N NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 411 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 ACAGAGACCTGATATGAATAT 0.279000 BTRC 8945 broad.mit.edu 37 10 103298091 103298091 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr10:103298091G>A uc001kta.2 + 13 1732 c.1619G>A c.(1618-1620)CGT>CAT p.R540H BTRC_uc001ktb.2_Missense_Mutation_p.R504H|BTRC_uc001ktc.2_Missense_Mutation_p.R514H NM_033637 NP_378663 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing protein 540 WD 6. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex ovary(1) 1 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) TTGGACCCCCGTGCTCCTGCA 0.458000 NELL1 4745 broad.mit.edu 37 11 21594908 21594908 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:21594908T>G uc001mqe.2 + 19 2488 c.2335T>G c.(2335-2337)TCA>GCA p.S779A NELL1_uc001mqf.2_Missense_Mutation_p.S732A|NELL1_uc009yid.2_Missense_Mutation_p.S807A|NELL1_uc010rdo.1_Missense_Mutation_p.S722A|NELL1_uc010rdp.1_Missense_Mutation_p.S492A|NELL1_uc001mqh.2_Missense_Mutation_p.S324A NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 779 VWFC 5. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GCTTAGTGGCTCAGTGTGGAC 0.488000 CCDC73 493860 broad.mit.edu 37 11 32632734 32632734 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:32632734C>T uc001mtv.2 - 17 3018 c.2974G>A c.(2974-2976)GAA>AAA p.E992K NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 992 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TTCTTCTCTTCACTGGGTTCT 0.398000 OR4C13 283092 broad.mit.edu 37 11 49974468 49974468 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:49974468C>T uc010rhz.1 + 1 494 c.494C>T c.(493-495)CCT>CTT p.P165L NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TGTCAATTACCTTTCTGTGGT 0.438000 OR5D13 390142 broad.mit.edu 37 11 55541130 55541130 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:55541130T>G uc010ril.1 + 1 217 c.217T>G c.(217-219)TTC>GTC p.F73V NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) CTTGACAGACTTCTGTTTTTC 0.393000 C11orf9 745 broad.mit.edu 37 11 61539366 61539366 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:61539366T>C uc001nsc.1 + 7 1153 c.1057T>C c.(1057-1059)TGG>CGG p.W353R C11orf9_uc001nse.1_Missense_Mutation_p.W344R NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 353 NDT80. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GTCCATCAAGTGGCAGCCTCA 0.617000 AHNAK 79026 broad.mit.edu 37 11 62299903 62299903 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:62299903G>A uc001ntl.2 - 5 2286 c.1986C>T c.(1984-1986)CCC>CCT p.P662P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 662 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CATTGACCTTGGGCCCTGAAA 0.498000 SLC22A6 9356 broad.mit.edu 37 11 62747361 62747361 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:62747361C>A uc001nwk.2 - 7 1404 c.1097G>T c.(1096-1098)AGC>ATC p.S366I SLC22A6_uc001nwl.2_Missense_Mutation_p.S366I|SLC22A6_uc001nwj.2_Missense_Mutation_p.S366I|SLC22A6_uc001nwm.2_Missense_Mutation_p.S366I NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 366 Extracellular (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 TAGGTAGATGCTGACTCCAAA 0.517000 ZFPL1 7542 broad.mit.edu 37 11 64854058 64854058 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:64854058G>A uc001ocq.1 + 4 551 c.386G>A c.(385-387)CGG>CAG p.R129Q CDCA5_uc001ocp.2_5'Flank NM_006782 NP_006773 O95159 ZFPL1_HUMAN zinc finger protein-like 1 129 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding ovary(1) 1 AACTGGGCCCGGGCAGGACTG 0.647000 C11orf2 738 broad.mit.edu 37 11 64875710 64875710 + Missense_Mutation SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:64875710A>G uc001ocr.1 + 5 807 c.767A>G c.(766-768)GAG>GGG p.E256G C11orf2_uc001ocs.1_Missense_Mutation_p.E132G NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 256 lipid transport|protein transport Golgi apparatus|integral to membrane 0 GAGTGCGTGGAGCTGCTGCTG 0.726000 SLC36A4 120103 broad.mit.edu 37 11 92918925 92918925 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:92918925A>T uc001pdn.2 - 2 208 c.111T>A c.(109-111)GAT>GAA p.D37E SLC36A4_uc001pdm.2_5'UTR NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 37 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CATGTTCTTCATCTGATGTCC 0.353000 GRIK4 2900 broad.mit.edu 37 11 120811160 120811160 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr11:120811160C>T uc001pxn.2 + 14 1868 c.1581C>T c.(1579-1581)CGC>CGT p.R527R GRIK4_uc009zav.1_Silent_p.R527R|GRIK4_uc009zaw.1_Silent_p.R527R|GRIK4_uc009zax.1_Silent_p.R527R NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 527 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TTCTTTACCGCGTTCATATGG 0.393000 CACNA1C 775 broad.mit.edu 37 12 2558239 2558239 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:2558239G>A uc009zdu.1 + 4 888 c.575G>A c.(574-576)CGC>CAC p.R192H CACNA1C_uc009zdv.1_Missense_Mutation_p.R192H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R192H|CACNA1C_uc001qke.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R192H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R192H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R192H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R192H|CACNA1C_uc001qko.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R192H|CACNA1C_uc001qku.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R192H|CACNA1C_uc001qks.2_Missense_Mutation_p.R192H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R192H|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 192 I.|Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCCTACCTCCGCAACGGCTGG 0.378000 RIMKLB 57494 broad.mit.edu 37 12 8926380 8926380 + Nonstop_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:8926380A>C uc001quu.2 + 6 1412 c.1161A>C c.(1159-1161)TGA>TGC p.*387C RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Nonstop_Mutation_p.*387C|RIMKLB_uc010sgl.1_Nonstop_Mutation_p.*387C|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 387 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 TGGTGGACTGACTCCACTGGT 0.453000 A2M 2 broad.mit.edu 37 12 9231877 9231877 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:9231877A>C uc001qvk.1 - 25 3195 c.3082T>G c.(3082-3084)TTT>GTT p.F1028V A2M_uc001qvj.1_Missense_Mutation_p.F70V|A2M_uc009zgk.1_Missense_Mutation_p.F878V NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1028 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CGCTCCCCAAAGGTGCTGTAG 0.343000 SLCO1B3 28234 broad.mit.edu 37 12 21028196 21028196 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:21028196C>A uc001rek.2 + 8 881 c.755C>A c.(754-756)TCT>TAT p.S252Y SLCO1B3_uc001rel.2_Missense_Mutation_p.S252Y|SLCO1B3_uc010sil.1_Missense_Mutation_p.S252Y|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.S77Y NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 252 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CCTAAGGACTCTCGTTGGGTT 0.368000 SLCO1B3 28234 broad.mit.edu 37 12 21051412 21051412 + Missense_Mutation SNP G G C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:21051412G>C uc001rek.2 + 13 1851 c.1725G>C c.(1723-1725)CAG>CAC p.Q575H SLCO1B3_uc001rel.2_Missense_Mutation_p.Q575H|SLCO1B3_uc010sil.1_Missense_Mutation_p.Q575H|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.Q400H NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 575 Helical; Name=11; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGGGTTTCCAGTCAATGGTTA 0.259000 HELB 92797 broad.mit.edu 37 12 66725385 66725385 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:66725385G>T uc001sti.2 + 12 3150 c.3122G>T c.(3121-3123)TGT>TTT p.C1041F HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 1041 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AAAAGAACCTGTGGTGTGAAT 0.393000 CLLU1OS 574016 broad.mit.edu 37 12 92814941 92814941 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:92814941G>A uc001tcb.1 - 3 153 c.151C>T c.(151-153)CTA>TTA p.L51L CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank NM_001025232 NP_001020403 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 51 0 AAACTTGTTAGCAAGGCCACT 0.413000 TPCN1 53373 broad.mit.edu 37 12 113704147 113704147 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr12:113704147C>T uc001tuw.2 + 4 697 c.400C>T c.(400-402)CGG>TGG p.R134W TPCN1_uc001tux.2_Missense_Mutation_p.R206W|TPCN1_uc010syt.1_Missense_Mutation_p.R66W NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 134 Extracellular (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 CCCCGCACTCCGGCTTGGCAT 0.617000 SPG20 23111 broad.mit.edu 37 13 36878722 36878722 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr13:36878722G>T uc001uvn.2 - 10 2051 c.1781C>A c.(1780-1782)GCG>GAG p.A594E SPG20_uc010ten.1_Missense_Mutation_p.A584E|SPG20_uc001uvm.2_Missense_Mutation_p.A594E|SPG20_uc001uvo.2_Missense_Mutation_p.A594E|SPG20_uc001uvq.2_Missense_Mutation_p.A594E NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 594 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) AACATTGACCGCAGAATCCAC 0.388000 SMAD9 4093 broad.mit.edu 37 13 37427777 37427777 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr13:37427777C>A uc001uvw.2 - 6 1382 c.1039G>T c.(1039-1041)GCC>TCC p.A347S SMAD9_uc001uvx.2_Missense_Mutation_p.A310S|SMAD9_uc010tep.1_Missense_Mutation_p.A140S NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 347 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) ACGCACTCGGCATACACCTCT 0.557000 PCDH17 27253 broad.mit.edu 37 13 58208453 58208453 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr13:58208453C>A uc001vhq.1 + 1 2665 c.1773C>A c.(1771-1773)GAC>GAA p.D591E PCDH17_uc010aec.1_Missense_Mutation_p.D591E NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 591 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGCAGAACGACACCGCGGAGC 0.667000 GPC6 10082 broad.mit.edu 37 13 94938678 94938678 + Missense_Mutation SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr13:94938678A>G uc001vlt.2 + 5 1585 c.953A>G c.(952-954)AAG>AGG p.K318R GPC6_uc010tig.1_Missense_Mutation_p.K318R NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 318 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) ATAGATGTCAAGATTTCTGAA 0.413000 ZNF219 51222 broad.mit.edu 37 14 21560052 21560052 + Silent SNP C C G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:21560052C>G uc001vzr.2 - 3 1825 c.1404G>C c.(1402-1404)GGG>GGC p.G468G ZNF219_uc001vzs.2_Silent_p.G468G|ZNF219_uc010aik.1_Silent_p.G468G NM_016423 NP_057507 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 468 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) TTGCCTGGGCCCCAGCAGCAG 0.667000 OR10G2 26534 broad.mit.edu 37 14 22102378 22102378 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:22102378G>A uc010tmc.1 - 1 621 c.621C>T c.(619-621)GAC>GAT p.D207D NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CTACCCTGACGTCCACAAAGG 0.527000 FITM1 161247 broad.mit.edu 37 14 24601699 24601699 + Silent SNP C C T rs139067370 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:24601699C>T uc001wmf.2 + 2 644 c.546C>T c.(544-546)ACC>ACT p.T182T NM_203402 NP_981947 A5D6W6 FITM1_HUMAN fat-inducing transcript 1 182 Extracellular (Potential). lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane 0 GAGGCTACACCGTCTCCTCCC 0.667000 SLC25A21 89874 broad.mit.edu 37 14 37180670 37180670 + Silent SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:37180670A>C uc001wtz.1 - 7 766 c.456T>G c.(454-456)GGT>GGG p.G152G NM_030631 NP_085134 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial 152 Solcar 2. lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding skin(1) 1 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) GTCTTGCATAACCCACAGTGG 0.443000 FANCM 57697 broad.mit.edu 37 14 45620674 45620674 + Silent SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:45620674A>G uc001wwd.3 + 5 1092 c.993A>G c.(991-993)AAA>AAG p.K331K FANCM_uc001wwc.2_Silent_p.K331K|FANCM_uc010anf.2_Silent_p.K305K NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 331 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 ATCTAACAAAATATCAGATAA 0.303000 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia ZFYVE1 53349 broad.mit.edu 37 14 73459882 73459882 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:73459882C>T uc001xnm.2 - 4 1812 c.1172G>A c.(1171-1173)CGG>CAG p.R391Q ZFYVE1_uc010arj.2_Missense_Mutation_p.R391Q NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 391 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) TCCCGGGTGCCGGGGAGAACG 0.572000 YLPM1 56252 broad.mit.edu 37 14 75248531 75248531 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:75248531C>T uc001xqj.3 + 4 1909 c.1785C>T c.(1783-1785)TCC>TCT p.S595S YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCCCACCTTCCCTGTCTTCTG 0.582000 SLC25A29 123096 broad.mit.edu 37 14 100765194 100765194 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr14:100765194C>T uc001yha.2 - 2 354 c.63G>A c.(61-63)CCG>CCA p.P21P SLC25A29_uc010twx.1_Intron|SLC25A29_uc010avw.2_Silent_p.P21P NM_001039355 NP_001034444 Q8N8R3 MCATL_HUMAN solute carrier family 25, member 29 21 Solcar 1.|Helical; Name=1; (Potential). integral to membrane|mitochondrial inner membrane binding ovary(1) 1 Melanoma(154;0.152) L-Carnitine(DB00583) CCGTGTCAAACGGGTGTCCCA 0.597000 RYR3 6263 broad.mit.edu 37 15 33855184 33855184 + Silent SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr15:33855184T>G uc001zhi.2 + 11 1189 c.1119T>G c.(1117-1119)ACT>ACG p.T373T RYR3_uc010bar.2_Silent_p.T373T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 373 Cytoplasmic (By similarity).|MIR 5. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACGCCAAAACTTCCCGCCTGG 0.453000 DISP2 85455 broad.mit.edu 37 15 40661112 40661112 + Silent SNP G G A rs140286504 byFrequency TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr15:40661112G>A uc001zlk.1 + 8 2888 c.2799G>A c.(2797-2799)GCG>GCA p.A933A NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 933 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GGCTGGCAGCGGAGCTGGGCA 0.607000 MCTP2 55784 broad.mit.edu 37 15 94983411 94983411 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr15:94983411T>G uc002btj.2 + 17 2157 c.2092T>G c.(2092-2094)TTG>GTG p.L698V MCTP2_uc010boj.2_Missense_Mutation_p.L427V|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.L286V NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 698 Helical; (Potential). calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TCAGGTATTTTTGATCACTGT 0.378000 OR4F15 390649 broad.mit.edu 37 15 102358857 102358857 + Silent SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr15:102358857A>C uc010uts.1 + 1 468 c.468A>C c.(466-468)TCA>TCC p.S156S NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTATCCACTCATTGGTCCAAT 0.418000 AQP8 343 broad.mit.edu 37 16 25235898 25235898 + Splice_Site SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr16:25235898G>A uc002doc.2 + 4 684 c.602_splice c.e4+1 p.G201_splice NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) TCCTGGCTGGGTGAGTGTCCC 0.512000 SLC7A6OS 84138 broad.mit.edu 37 16 68344764 68344764 + Silent SNP A A C rs147089863 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr16:68344764A>C uc002evw.1 - 1 85 c.66T>G c.(64-66)GCT>GCG p.A22A PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 22 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) CGAGCACAAGAGCCTCCGCCG 0.657000 COG8 84342 broad.mit.edu 37 16 69366758 69366758 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr16:69366758G>A uc002ewy.2 - 4 1512 c.1441C>T c.(1441-1443)CGC>TGC p.R481C PDF_uc002ewx.1_5'Flank|COG8_uc002ewz.3_Missense_Mutation_p.R481C NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 481 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 TCTTCAGCGCGATGGAAGGCC 0.507000 GLG1 2734 broad.mit.edu 37 16 74487204 74487204 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr16:74487204A>T uc002fcy.3 - 26 3451 c.3401T>A c.(3400-3402)CTT>CAT p.L1134H GLG1_uc002fcx.2_Missense_Mutation_p.L1134H|GLG1_uc002fcw.3_Missense_Mutation_p.L1123H|GLG1_uc002fcz.3_Missense_Mutation_p.L551H NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 1134 Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 TTGCATGGCAAGATCAGAGAA 0.488000 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562000 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) CYB5D1 124637 broad.mit.edu 37 17 7762832 7762832 + Missense_Mutation SNP C C T rs62059715 byFrequency TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr17:7762832C>T uc002gjb.3 + 4 978 c.589C>T c.(589-591)CGG>TGG p.R197W LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_3'UTR NM_144607 NP_653208 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 197 heme binding skin(1) 1 all_cancers(10;0.11)|Prostate(122;0.219) GAATGGGATCCGGGATGAGGA 0.463000 KRT28 162605 broad.mit.edu 37 17 38953225 38953225 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr17:38953225G>A uc002hvh.1 - 5 987 c.921C>T c.(919-921)ACC>ACT p.T307T NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 307 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) GCCTCATCTCGGTGAGCTGGC 0.617000 STAT3 6774 broad.mit.edu 37 17 40485746 40485746 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr17:40485746G>A uc002hzl.1 - 10 1234 c.994C>T c.(994-996)CAT>TAT p.H332Y STAT3_uc002hzk.1_Missense_Mutation_p.H332Y|STAT3_uc002hzm.1_Missense_Mutation_p.H332Y|STAT3_uc010wgh.1_Missense_Mutation_p.H234Y|STAT3_uc002hzn.1_Missense_Mutation_p.H332Y NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 332 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CGGTCAGGATGCATGGGCATG 0.577000 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome ACBD4 79777 broad.mit.edu 37 17 43213915 43213915 + Missense_Mutation SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr17:43213915A>G uc002iid.2 + 3 481 c.137A>G c.(136-138)TAC>TGC p.Y46C ACBD4_uc010wjj.1_Missense_Mutation_p.Y46C|ACBD4_uc002iie.2_Missense_Mutation_p.Y46C|ACBD4_uc002iif.2_Missense_Mutation_p.Y46C|ACBD4_uc002iic.2_Missense_Mutation_p.Y46C|ACBD4_uc010dae.2_5'UTR NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN acyl-Coenzyme A binding domain containing 4 46 ACB. fatty-acyl-CoA binding ovary(1)|kidney(1) 2 TACAGTTACTACAAGCAGGCC 0.602000 GPRC5C 55890 broad.mit.edu 37 17 72436661 72436661 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr17:72436661C>A uc002jks.2 + 1 785 c.746C>A c.(745-747)ACA>AAA p.T249K GPRC5C_uc002jkp.2_Missense_Mutation_p.T294K|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.T261K|GPRC5C_uc002jkt.2_Missense_Mutation_p.T249K|GPRC5C_uc002jku.2_5'Flank NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 249 Helical; Name=6; (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 CTCCTCACCACAGCCACCTCC 0.617000 DSEL 92126 broad.mit.edu 37 18 65180695 65180695 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr18:65180695G>A uc002lke.1 - 2 2405 c.1181C>T c.(1180-1182)ACT>ATT p.T394I NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 384 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AGTGTGAAGAGTACTCCACCT 0.458000 MUC16 94025 broad.mit.edu 37 19 9047473 9047473 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:9047473T>G uc002mkp.2 - 5 34362 c.34158A>C c.(34156-34158)GAA>GAC p.E11386D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11388 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 CTGAAGTGGCTTCTGCCCCAG 0.468000 CDC37 11140 broad.mit.edu 37 19 10505732 10505732 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:10505732G>A uc002mof.1 - 5 807 c.691C>T c.(691-693)CGG>TGG p.R231W CDC37_uc002moe.1_Missense_Mutation_p.R186W|CDC37_uc010dxf.1_Missense_Mutation_p.R68W|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R231W NM_007065 NP_008996 Q16543 CDC37_HUMAN cell division cycle 37 protein 231 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) AAGCAGGCCCGGGGGTCCACC 0.582000 CPAMD8 27151 broad.mit.edu 37 19 17008738 17008738 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:17008738G>A uc002nfb.2 - 38 5089 c.5057C>T c.(5056-5058)TCG>TTG p.S1686L CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Missense_Mutation_p.S151L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1639 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TGGCAGCGCCGACGTCCTGCC 0.587000 DDX49 54555 broad.mit.edu 37 19 19035507 19035507 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:19035507C>T uc002nkq.1 + 8 985 c.928C>T c.(928-930)CGG>TGG p.R310W HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.R203W|DDX49_uc002nkt.1_Missense_Mutation_p.R192W NM_019070 NP_061943 Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 310 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Epithelial(12;0.0289) CGTGGCCTCCCGGTGAGCAGC 0.577000 C19orf2 8725 broad.mit.edu 37 19 30502064 30502064 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:30502064C>T uc002nsr.2 + 9 1129 c.1099C>T c.(1099-1101)CGT>TGT p.R367C C19orf2_uc002nsq.2_Missense_Mutation_p.R349C|C19orf2_uc002nss.2_Missense_Mutation_p.R327C|C19orf2_uc002nst.2_Missense_Mutation_p.R291C NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 367 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) AGAAGCCAAACGTAAACGAAA 0.453000 ZNF568 374900 broad.mit.edu 37 19 37440970 37440970 + Silent SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:37440970T>G uc002ofc.2 + 7 1430 c.915T>G c.(913-915)CCT>CCG p.P305P ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.P229P|ZNF568_uc010efe.2_Silent_p.P229P|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGAGAAACCTTATGCATGTA 0.378000 LYPD4 147719 broad.mit.edu 37 19 42343074 42343074 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:42343074T>C uc002orp.1 - 3 1076 c.92A>G c.(91-93)GAA>GGA p.E31G LYPD4_uc002orq.1_Intron NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 precursor 31 anchored to membrane|plasma membrane ovary(1) 1 GGCTGTTGCTTCATAGCACAA 0.502000 ATP1A3 478 broad.mit.edu 37 19 42471430 42471430 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:42471430C>T uc002osg.2 - 22 3138 c.2984G>A c.(2983-2985)CGC>CAC p.R995H ATP1A3_uc010xwf.1_Missense_Mutation_p.R1006H|ATP1A3_uc010xwg.1_Missense_Mutation_p.R965H|ATP1A3_uc010xwh.1_Missense_Mutation_p.R1008H|ATP1A3_uc002osh.2_Missense_Mutation_p.R995H NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 995 Helical; (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GATGAGTTTGCGGATTTCGTC 0.662000 PSG1 5669 broad.mit.edu 37 19 43348747 43348747 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:43348747C>A uc002oux.1 - 5 1198 c.1049G>T c.(1048-1050)AGA>ATA p.R350I PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_RNA|PSG8_uc002oup.3_Intron|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002ouy.1_Missense_Mutation_p.R328I NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 336 Ig-like C2-type 3. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) AGGGTAAATTCTGGGGAGGTC 0.483000 ZNF813 126017 broad.mit.edu 37 19 53995030 53995030 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:53995030G>T uc002qbu.2 + 4 1672 c.1544G>T c.(1543-1545)AGA>ATA p.R515I ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 515 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TGTCATCATAGACTTCATACT 0.383000 LILRA3 11026 broad.mit.edu 37 19 54803095 54803095 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:54803095C>T uc002qfd.2 - 4 647 c.582G>A c.(580-582)TCG>TCA p.S194S LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 194 Ig-like C2-type 2. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGCACCTGTACGACCACCTGC 0.587000 ZNF471 57573 broad.mit.edu 37 19 57036519 57036519 + Silent SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:57036519T>C uc002qnh.2 + 5 1216 c.1083T>C c.(1081-1083)TTT>TTC p.F361F NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 361 C2H2-type 6. F -> C (in a colorectal cancer sample; somatic mutation). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F361C(1) large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) ACACATCTTTTATTCGTCACT 0.418000 PXDN 7837 broad.mit.edu 37 2 1652393 1652393 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr2:1652393G>A uc002qxa.2 - 17 3223 c.3159C>T c.(3157-3159)TAC>TAT p.Y1053Y NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1053 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGCCGGGGTCGTAGCCGTGGT 0.617000 TMEM131 23505 broad.mit.edu 37 2 98392446 98392446 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr2:98392446G>A uc002syh.3 - 32 4409 c.4180C>T c.(4180-4182)CCT>TCT p.P1394S NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1394 Lys-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 TGCTTCTTAGGTGGTTTCACC 0.378000 CPS1 1373 broad.mit.edu 37 2 211465372 211465372 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr2:211465372A>C uc002vee.3 + 15 1775 c.1643A>C c.(1642-1644)CAG>CCG p.Q548P CPS1_uc010fur.2_Missense_Mutation_p.Q554P|CPS1_uc010fus.2_Missense_Mutation_p.Q97P NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 548 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAAGACAGGCAGCTGTTTTCA 0.408000 ACSL3 2181 broad.mit.edu 37 2 223773557 223773557 + Missense_Mutation SNP T T A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr2:223773557T>A uc002vni.2 + 4 518 c.67T>A c.(67-69)TTA>ATA p.L23I ACSL3_uc002vnj.2_Missense_Mutation_p.L23I NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 23 Helical; Signal-anchor for type III membrane protein; (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) CCCTATTCTTTTATATTTTAT 0.289000 T ETV1 prostate DOCK10 55619 broad.mit.edu 37 2 225688336 225688336 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr2:225688336G>T uc010fwz.1 - 28 3304 c.3065C>A c.(3064-3066)TCT>TAT p.S1022Y DOCK10_uc002vob.2_Missense_Mutation_p.S1016Y NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1022 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATTTTGGTAAGATTCAGGAAA 0.408000 FAM113A 64773 broad.mit.edu 37 20 2818920 2818920 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr20:2818920C>T uc002wgz.1 - 6 1296 c.799G>A c.(799-801)GAC>AAC p.D267N FAM113A_uc002whb.1_Missense_Mutation_p.D118N|FAM113A_uc002wha.1_Missense_Mutation_p.D118N|FAM113A_uc010zqa.1_Missense_Mutation_p.D114N|FAM113A_uc002whc.1_Missense_Mutation_p.D216N|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN hypothetical protein LOC64773 267 hydrolase activity|protein binding ovary(2) 2 CCCCAGGCGTCAGCCACATGG 0.637000 C20orf3 57136 broad.mit.edu 37 20 24954292 24954292 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr20:24954292G>A uc002wty.2 - 4 511 c.410C>T c.(409-411)TCG>TTG p.S137L C20orf3_uc002wtz.2_Missense_Mutation_p.S137L|C20orf3_uc010zsw.1_Missense_Mutation_p.S137L NM_020531 NP_065392 Q9HDC9 APMAP_HUMAN chromosome 20 open reading frame 3 137 Extracellular (Potential). biosynthetic process cell surface|integral to membrane arylesterase activity|strictosidine synthase activity ovary(1) 1 GCAAGGGCCCGAACCAAACCG 0.443000 MYBL2 4605 broad.mit.edu 37 20 42344707 42344707 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr20:42344707C>T uc002xlb.1 + 14 2298 c.2083C>T c.(2083-2085)CGG>TGG p.R695W MYBL2_uc010zwj.1_Missense_Mutation_p.R671W NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 695 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCACACATCTCGGACCCTCAT 0.607000 EEF1A2 1917 broad.mit.edu 37 20 62126325 62126325 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr20:62126325C>T uc002yfd.1 - 3 555 c.454G>A c.(454-456)GTG>ATG p.V152M EEF1A2_uc002yfe.1_Missense_Mutation_p.V152M|EEF1A2_uc010gkg.1_Missense_Mutation_p.V152M NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 152 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) ATTTTGTTCACGCCCACGATG 0.607000 ZDHHC8 29801 broad.mit.edu 37 22 20130417 20130417 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr22:20130417G>A uc002zrq.2 + 10 1370 c.1264G>A c.(1264-1266)GCC>ACC p.A422T ZDHHC8_uc002zrr.1_Missense_Mutation_p.A422T|ZDHHC8_uc010gsa.2_Missense_Mutation_p.A228T NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 422 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) ACCGCTCAGCGCCTCTGATGC 0.692000 PFKFB4 5210 broad.mit.edu 37 3 48587369 48587369 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr3:48587369C>T uc003ctv.2 - 3 256 c.239G>A c.(238-240)CGG>CAG p.R80Q PFKFB4_uc003ctw.2_5'UTR|PFKFB4_uc010hkc.2_Missense_Mutation_p.R80Q|PFKFB4_uc003ctx.2_Missense_Mutation_p.R37Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R80Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R69Q|PFKFB4_uc011bbn.1_RNA NM_004567 NP_004558 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2, 80 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GACCACGTCCCGGCGATACTG 0.517000 QARS 5859 broad.mit.edu 37 3 49139687 49139687 + Silent SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr3:49139687A>C uc003cvx.2 - 7 587 c.582T>G c.(580-582)GCT>GCG p.A194A QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Silent_p.A49A|QARS_uc003cvy.2_Silent_p.A49A|QARS_uc011bce.1_Silent_p.A183A|QARS_uc011bcf.1_Silent_p.A194A NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 194 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CTTCTAGCCGAGCTTTTGCCA 0.507000 VPRBP 9730 broad.mit.edu 37 3 51457862 51457862 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr3:51457862T>C uc003dbe.1 - 14 2730 c.2562A>G c.(2560-2562)ATA>ATG p.I854M VPRBP_uc003dbf.1_Missense_Mutation_p.I130M NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 854 LisH. interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GATGGTTTCGTATCAACAAAA 0.478000 SNTN 132203 broad.mit.edu 37 3 63638466 63638466 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr3:63638466C>T uc003dlr.2 + 1 123 c.103C>T c.(103-105)CCC>TCC p.P35S NM_001080537 NP_001074006 A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 35 cilium calcium ion binding ovary(1) 1 TAGGAAAATGCCCAAAAGGTC 0.453000 ARL13B 200894 broad.mit.edu 37 3 93758757 93758757 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr3:93758757T>G uc003drc.2 + 6 1009 c.723T>G c.(721-723)GAT>GAG p.D241E ARL13B_uc010hop.2_Missense_Mutation_p.D92E|ARL13B_uc003drd.2_Missense_Mutation_p.D134E|ARL13B_uc003dre.2_Missense_Mutation_p.D226E|ARL13B_uc003drf.2_Missense_Mutation_p.D241E|ARL13B_uc003drg.2_Missense_Mutation_p.D138E NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 241 Potential. GTP binding 0 CTGAACTCGATGGAACCAGTG 0.393000 MRPL47 57129 broad.mit.edu 37 3 179311560 179311560 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr3:179311560T>G uc003fjz.2 - 5 548 c.526A>C c.(526-528)ATC>CTC p.I176L MRPL47_uc003fka.2_Missense_Mutation_p.I66L|MRPL47_uc003fkb.2_Missense_Mutation_p.I156L NM_020409 NP_065142 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 isoform a 176 translation mitochondrial ribosome structural constituent of ribosome 0 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TACCAGATGATTCTTCCAAAG 0.413000 EVC 2121 broad.mit.edu 37 4 5733156 5733156 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:5733156T>C uc003gil.1 + 4 573 c.389T>C c.(388-390)CTG>CCG p.L130P EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 130 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CCCCAGCCTCTGGCCGATGGC 0.542000 LDB2 9079 broad.mit.edu 37 4 16587554 16587554 + Missense_Mutation SNP G G C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:16587554G>C uc003goz.2 - 5 922 c.606C>G c.(604-606)AAC>AAG p.N202K LDB2_uc003gpa.2_Missense_Mutation_p.N202K|LDB2_uc003gpb.2_Missense_Mutation_p.N202K|LDB2_uc011bxh.1_Intron|LDB2_uc010iee.2_Missense_Mutation_p.N202K|LDB2_uc003goy.2_Missense_Mutation_p.N78K|LDB2_uc011bxi.1_Missense_Mutation_p.N78K NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 202 LIM domain binding|transcription cofactor activity 0 CCCTGAGGTAGTTGAGGGTGA 0.408000 SPATA18 132671 broad.mit.edu 37 4 52926960 52926960 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:52926960A>T uc003gzl.2 + 3 484 c.206A>T c.(205-207)GAT>GTT p.D69V SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.D69V|SPATA18_uc003gzk.1_Missense_Mutation_p.D69V NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 69 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GGACGTAATGATGGTGTGGAA 0.294000 KDR 3791 broad.mit.edu 37 4 55968591 55968591 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:55968591G>T uc003has.2 - 14 2374 c.2072C>A c.(2071-2073)TCT>TAT p.S691Y KDR_uc003hat.1_Missense_Mutation_p.S691Y NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 691 Ig-like C2-type 7.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GGGATTCCCAGATGCCGTGCA 0.468000 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) KIAA1109 84162 broad.mit.edu 37 4 123252486 123252486 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:123252486C>T uc003ieh.2 + 65 11300 c.11255C>T c.(11254-11256)ACG>ATG p.T3752M KIAA1109_uc003iem.2_Missense_Mutation_p.T143M NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3752 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGTAGACATACGTCTCGTAAA 0.373000 FAT4 79633 broad.mit.edu 37 4 126241072 126241072 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:126241072G>A uc003ifj.3 + 1 3506 c.3506G>A c.(3505-3507)CGG>CAG p.R1169Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1169 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTTATGAGGCGGAGAGGGACT 0.453000 ZNF827 152485 broad.mit.edu 37 4 146806888 146806888 + Silent SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:146806888T>C uc003ikn.2 - 4 1737 c.1689A>G c.(1687-1689)GCA>GCG p.A563A ZNF827_uc003ikm.2_Silent_p.A563A|ZNF827_uc010iox.2_Silent_p.A213A NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) GGCTGAACAATGCTGACGCAC 0.458000 NPY1R 4886 broad.mit.edu 37 4 164246633 164246633 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr4:164246633T>G uc003iqm.1 - 3 1243 c.977A>C c.(976-978)AAC>ACC p.N326T NPY1R_uc011cjj.1_Missense_Mutation_p.N83T NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 326 Cytoplasmic (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCTGGAAGTTTTTGTTCAG 0.428000 PRDM9 56979 broad.mit.edu 37 5 23522743 23522743 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr5:23522743T>G uc003jgo.2 + 8 813 c.631T>G c.(631-633)TTC>GTC p.F211V NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 211 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GTGTCAGAACTTCTTCATTGA 0.498000 HNSCC(3;0.000094) ERBB2IP 55914 broad.mit.edu 37 5 65288677 65288678 + Missense_Mutation DNP TT TT AC TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr5:65288677_65288678TT>AC uc003juk.1 + 3 439_440 c.131_132TT>AC c.(130-132)TTT>TAC p.F44Y ERBB2IP_uc003juh.1_Missense_Mutation_p.F44Y|ERBB2IP_uc003jui.1_Missense_Mutation_p.F44Y|ERBB2IP_uc003juj.1_Missense_Mutation_p.F44Y|ERBB2IP_uc011cqx.1_Missense_Mutation_p.F44Y|ERBB2IP_uc011cqy.1_Missense_Mutation_p.F44Y|ERBB2IP_uc011cqz.1_Missense_Mutation_p.F44Y|ERBB2IP_uc010iwx.1_Missense_Mutation_p.F44Y|ERBB2IP_uc003jul.1_Missense_Mutation_p.F44Y NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 44 LRR 1. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) ATTTTTACTTTTGAAAAAACCT 0.361000 GPR98 84059 broad.mit.edu 37 5 89954028 89954028 + Missense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr5:89954028G>T uc003kju.2 + 21 4781 c.4685G>T c.(4684-4686)AGA>ATA p.R1562I GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1562 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) ACTACTGCAAGATTAACAATA 0.363000 FAM81B 153643 broad.mit.edu 37 5 94764400 94764400 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr5:94764400C>T uc003kla.1 + 6 796 c.750C>T c.(748-750)CCC>CCT p.P250P FAM81B_uc010jbe.1_Silent_p.P46P NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 250 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AATTCGTGCCCGCCCTGGAAA 0.408000 SLC25A46 91137 broad.mit.edu 37 5 110097216 110097216 + Missense_Mutation SNP C C G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr5:110097216C>G uc003koz.2 + 8 1058 c.991C>G c.(991-993)CTT>GTT p.L331V SLC25A46_uc011cvi.1_Missense_Mutation_p.L240V NM_138773 NP_620128 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 331 Solcar 2.|Helical; Name=5; (Potential). transport integral to membrane|mitochondrial inner membrane 0 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) TGACGTTATACTTTACCCATT 0.423000 ZNF300 91975 broad.mit.edu 37 5 150275190 150275190 + Silent SNP C C T rs140923053 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr5:150275190C>T uc003lsy.1 - 6 1878 c.1611G>A c.(1609-1611)CCG>CCA p.P537P IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 537 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGGTGTCCCGGAAGGTGGG 0.428000 DUSP22 56940 broad.mit.edu 37 6 345906 345906 + Missense_Mutation SNP G G A rs148279164 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:345906G>A uc003msx.2 + 5 680 c.241G>A c.(241-243)GGT>AGT p.G81S DUSP22_uc011dhn.1_Missense_Mutation_p.G81S|DUSP22_uc003msy.1_Missense_Mutation_p.G38S NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 81 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CCGGCTCCGCGGTGAGAGCTG 0.438000 NUP153 9972 broad.mit.edu 37 6 17629488 17629488 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:17629488A>C uc003ncd.1 - 18 3142 c.2942T>G c.(2941-2943)TTT>TGT p.F981C NUP153_uc011dje.1_Missense_Mutation_p.F1012C|NUP153_uc010jpl.1_Missense_Mutation_p.F939C NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 981 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TCCAAACTTAAAATTATCATT 0.323000 C6orf134 79969 broad.mit.edu 37 6 30610778 30610778 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:30610778C>T uc003nqu.2 + 10 1008 c.958C>T c.(958-960)CGT>TGT p.R320C C6orf134_uc003nqr.3_Missense_Mutation_p.R320C|C6orf134_uc003rdc.2_Missense_Mutation_p.R320C|C6orf134_uc003nqs.3_Missense_Mutation_p.R297C|C6orf134_uc003rdd.2_Missense_Mutation_p.R297C|C6orf134_uc003nqt.2_Intron|C6orf134_uc011dmm.1_Missense_Mutation_p.R285C|C6orf134_uc003nqv.2_Missense_Mutation_p.R308C NM_024909 NP_079185 Q5SQI0 ATAT_HUMAN hypothetical protein LOC79969 isoform 2 320 tubulin N-acetyltransferase activity 0 AGCTCAACGTCGTCGCACCAG 0.572000 BRD2 6046 broad.mit.edu 37 6 32945244 32945244 + Missense_Mutation SNP G G T rs141044200 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:32945244G>T uc003ocn.3 + 8 2927 c.1226G>T c.(1225-1227)CGG>CTG p.R409L BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.R409L|BRD2_uc003ocp.3_Missense_Mutation_p.R289L|BRD2_uc010juh.2_Missense_Mutation_p.R409L NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 409 Bromo 2. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CGTGATTACCGGGATGCACAG 0.522000 KCNK5 8645 broad.mit.edu 37 6 39159379 39159379 + Missense_Mutation SNP G G A rs150380866 byFrequency TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:39159379G>A uc003oon.2 - 5 1151 c.787C>T c.(787-789)CGG>TGG p.R263W NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 263 Cytoplasmic (Potential). excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GACTCCTTCCGTCGCCGCCGC 0.562000 UTRN 7402 broad.mit.edu 37 6 144811268 144811268 + Missense_Mutation SNP G G A rs151173089 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:144811268G>A uc003qkt.2 + 30 4288 c.4196G>A c.(4195-4197)CGT>CAT p.R1399H NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1399 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AGAAATATGCGTTCTCAGCCC 0.473000 PPIL4 85313 broad.mit.edu 37 6 149826767 149826767 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:149826767T>C uc003qmo.1 - 13 1331 c.1301A>G c.(1300-1302)AAG>AGG p.K434R PPIL4_uc010kic.2_Intron NM_139126 NP_624311 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase-like 4 434 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TCGGTCTCTCTTTTCACTCTT 0.398000 LPA 4018 broad.mit.edu 37 6 161010612 161010612 + Missense_Mutation SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr6:161010612T>C uc003qtl.2 - 25 4040 c.3920A>G c.(3919-3921)CAG>CGG p.Q1307R NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3815 Kringle 34. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGTGGTTCTCTGATGCCAGTG 0.473000 GLI3 2737 broad.mit.edu 37 7 42004616 42004616 + Nonsense_Mutation SNP G G T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr7:42004616G>T uc011kbh.1 - 15 4146 c.4055C>A c.(4054-4056)TCA>TAA p.S1352* GLI3_uc011kbg.1_Nonsense_Mutation_p.S1293* NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1352 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GTTGATGTGTGAGGTAGCACT 0.647000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome POLD2 5425 broad.mit.edu 37 7 44157562 44157562 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr7:44157562G>A uc010kxz.2 - 4 972 c.322C>T c.(322-324)CTG>TTG p.L108L POLD2_uc003tke.3_Silent_p.L108L|POLD2_uc010kya.2_Silent_p.L108L|POLD2_uc003tkf.3_Silent_p.L108L NM_006230 NP_006221 P49005 DPOD2_HUMAN DNA-directed DNA polymerase delta 2 108 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding ovary(2) 2 ACCTCCCGCAGGATGGAGGGC 0.632000 SLC13A1 6561 broad.mit.edu 37 7 122765669 122765669 + Silent SNP A A G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr7:122765669A>G uc003vkm.2 - 11 1219 c.1194T>C c.(1192-1194)CTT>CTC p.L398L SLC13A1_uc010lks.2_Silent_p.L274L NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 398 Helical; (Potential). integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TAGCTGGGATAAGAAAGAATA 0.333000 OR2F1 26211 broad.mit.edu 37 7 143657178 143657178 + Missense_Mutation SNP G G A rs141187562 byFrequency TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr7:143657178G>A uc003wds.1 + 1 159 c.115G>A c.(115-117)GTG>ATG p.V39M NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TGTGGTGACCGTGCTGGGGAA 0.522000 MLL3 58508 broad.mit.edu 37 7 151932911 151932911 + Silent SNP T T C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr7:151932911T>C uc003wla.2 - 16 2979 c.2760A>G c.(2758-2760)GTA>GTG p.V920V MLL3_uc003wkz.2_5'UTR NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 920 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCCCAGGTAATACAACAGCTC 0.453000 N medulloblastoma CSMD1 64478 broad.mit.edu 37 8 3200843 3200843 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:3200843C>T uc011kwk.1 - 23 3997 c.3607G>A c.(3607-3609)GAC>AAC p.D1203N CSMD1_uc011kwj.1_Missense_Mutation_p.D595N|CSMD1_uc003wqe.2_Missense_Mutation_p.D359N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1203 Extracellular (Potential).|CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAACCTTGGTCGGTGTCAGAT 0.408000 PRSS55 203074 broad.mit.edu 37 8 10396212 10396212 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:10396212C>T uc003wta.2 + 5 983 c.968C>T c.(967-969)CCA>CTA p.P323L uc010lru.2_Intron|PRSS55_uc003wtb.2_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 323 Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 ATGGGCTCCCCAGTCTCGGGA 0.517000 DLC1 10395 broad.mit.edu 37 8 13258989 13258989 + Missense_Mutation SNP C C T rs150701452 TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:13258989C>T uc003wwm.2 - 3 1607 c.1163G>A c.(1162-1164)CGG>CAG p.R388Q DLC1_uc003wwn.2_Missense_Mutation_p.R388Q|DLC1_uc011kxy.1_Missense_Mutation_p.R388Q NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 388 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 AGGAACGTGCCGCCGCAGGTT 0.483000 TUSC3 7991 broad.mit.edu 37 8 15480646 15480646 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:15480646T>G uc003wwt.2 + 2 406 c.196T>G c.(196-198)TTC>GTC p.F66V TUSC3_uc003wwr.2_Missense_Mutation_p.F66V|TUSC3_uc003wws.2_Missense_Mutation_p.F66V|TUSC3_uc003wwu.2_Missense_Mutation_p.F66V|TUSC3_uc003wwv.2_Missense_Mutation_p.F66V|TUSC3_uc003www.2_Missense_Mutation_p.F66V|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F66V NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 66 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) ACGCTCAATCTTCCGAATGAA 0.388000 ZMAT4 79698 broad.mit.edu 37 8 40625183 40625183 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:40625183C>A uc003xnr.2 - 3 315 c.169G>T c.(169-171)GCC>TCC p.A57S ZMAT4_uc003xns.2_Missense_Mutation_p.A57S NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 57 nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) AGCCTCTTGGCAGGACACCCT 0.453000 RP1 6101 broad.mit.edu 37 8 55541424 55541424 + Missense_Mutation SNP C C G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:55541424C>G uc003xsd.1 + 4 5130 c.4982C>G c.(4981-4983)TCT>TGT p.S1661C RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1661 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTTATAATTCTGTGGAATTT 0.388000 FAM82B 51115 broad.mit.edu 37 8 87491204 87491204 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:87491204C>T uc003ydu.2 - 7 837 c.677G>A c.(676-678)AGA>AAA p.R226K FAM82B_uc011lfz.1_Missense_Mutation_p.R196K|FAM82B_uc011lga.1_Missense_Mutation_p.R196K NM_016033 NP_057117 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 226 TPR 2. microtubule|spindle pole binding ovary(1) 1 AGCAATTCTTCTTTGATACCA 0.348000 SDC2 6383 broad.mit.edu 37 8 97614693 97614693 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:97614693T>G uc003yhv.1 + 3 861 c.243T>G c.(241-243)AGT>AGG p.S81R SDC2_uc011lgu.1_Missense_Mutation_p.S52R NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 81 Extracellular (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) TGTTGACTAGTGCTGCTCCAA 0.438000 ANGPT1 284 broad.mit.edu 37 8 108306233 108306233 + Silent SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:108306233A>T uc003ymn.2 - 6 1437 c.969T>A c.(967-969)GGT>GGA p.G323G ANGPT1_uc011lhv.1_Silent_p.G123G|ANGPT1_uc003ymo.2_Silent_p.G322G|ANGPT1_uc003ymp.3_Silent_p.G122G NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 323 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TTACAGTCCAACCTCCCCCAT 0.343000 CSMD3 114788 broad.mit.edu 37 8 113317004 113317004 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:113317004C>T uc003ynu.2 - 52 8371 c.8212G>A c.(8212-8214)GAA>AAA p.E2738K CSMD3_uc003yns.2_Missense_Mutation_p.E1940K|CSMD3_uc003ynt.2_Missense_Mutation_p.E2698K|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2738 Extracellular (Potential).|Sushi 16. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGAAGACATTCGATGGAGGCA 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113318286 113318286 + Missense_Mutation SNP C C A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:113318286C>A uc003ynu.2 - 51 8180 c.8021G>T c.(8020-8022)TGC>TTC p.C2674F CSMD3_uc003yns.2_Missense_Mutation_p.C1876F|CSMD3_uc003ynt.2_Missense_Mutation_p.C2634F|CSMD3_uc011lhx.1_Missense_Mutation_p.C2570F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2674 Extracellular (Potential).|Sushi 15. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCTGATTGGCATACAGCTGT 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113323373 113323373 + Missense_Mutation SNP T T G TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:113323373T>G uc003ynu.2 - 50 7878 c.7719A>C c.(7717-7719)GAA>GAC p.E2573D CSMD3_uc003yns.2_Missense_Mutation_p.E1775D|CSMD3_uc003ynt.2_Missense_Mutation_p.E2533D|CSMD3_uc011lhx.1_Missense_Mutation_p.E2469D|CSMD3_uc003ynw.1_Missense_Mutation_p.E284D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2573 Extracellular (Potential).|Sushi 14. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GAGGTGGGGATTCTGGTGTAC 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) ADCY8 114 broad.mit.edu 37 8 132052057 132052057 + Missense_Mutation SNP A A C TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:132052057A>C uc003ytd.3 - 1 779 c.523T>G c.(523-525)TTG>GTG p.L175V ADCY8_uc010mds.2_Missense_Mutation_p.L175V NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 175 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTTTGGCCCAAGAAATAGCGC 0.547000 HNSCC(32;0.087) NFKBIL2 4796 broad.mit.edu 37 8 145661049 145661049 + Nonsense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr8:145661049G>A uc011llg.1 - 17 2782 c.2767C>T c.(2767-2769)CAG>TAG p.Q923* uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 923 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) ACCAAGGGCTGGCCTGCCGCA 0.677000 ADAMTSL1 92949 broad.mit.edu 37 9 18657714 18657714 + Silent SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr9:18657714G>A uc003zne.3 + 8 1039 c.912G>A c.(910-912)ACG>ACA p.T304T ADAMTSL1_uc003znb.2_Silent_p.T304T|ADAMTSL1_uc003znc.3_Silent_p.T304T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 304 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GGAGGGAGACGGATTTCTTTC 0.463000 UNC13B 10497 broad.mit.edu 37 9 35375189 35375189 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr9:35375189C>T uc003zwq.2 + 13 1651 c.1359C>T c.(1357-1359)GAC>GAT p.D453D UNC13B_uc003zwr.2_Silent_p.D453D NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 453 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CTCTTAAGGACGAAGAGCTGG 0.498000 C9orf84 158401 broad.mit.edu 37 9 114462251 114462251 + Missense_Mutation SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr9:114462251C>T uc004bfr.2 - 22 3109 c.2974G>A c.(2974-2976)GAA>AAA p.E992K C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.E953K|C9orf84_uc010mug.2_Missense_Mutation_p.E903K NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 992 ovary(2) 2 TCCAGTTCTTCAGAGTTTAGC 0.308000 RGS3 5998 broad.mit.edu 37 9 116357901 116357901 + Silent SNP C C T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr9:116357901C>T uc004bhq.2 + 25 3476 c.3267C>T c.(3265-3267)GCC>GCT p.A1089A RGS3_uc004bhs.2_Silent_p.A979A|RGS3_uc004bht.2_Silent_p.A808A|RGS3_uc010muy.2_Silent_p.A482A|RGS3_uc004bhv.2_Silent_p.A410A|RGS3_uc004bhw.2_Silent_p.A59A|RGS3_uc011lxh.1_Silent_p.A399A|RGS3_uc004bhx.2_Silent_p.A410A|RGS3_uc004bhz.2_Silent_p.A431A|RGS3_uc004bia.2_Silent_p.A202A NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 1089 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 TGTTCCAAGCCTTCCTTCGCA 0.527000 SARDH 1757 broad.mit.edu 37 9 136596596 136596596 + Missense_Mutation SNP G G A TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr9:136596596G>A uc004cep.3 - 4 655 c.521C>T c.(520-522)GCG>GTG p.A174V SARDH_uc004ceo.2_Missense_Mutation_p.A174V|SARDH_uc011mdn.1_Missense_Mutation_p.A174V|SARDH_uc011mdo.1_Missense_Mutation_p.A6V NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 174 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CACACCATACGCCTTGCCCAG 0.632000 TAF9B 51616 broad.mit.edu 37 X 77393257 77393257 + Missense_Mutation SNP A A T TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chrX:77393257A>T uc004eda.2 - 4 465 c.394T>A c.(394-396)TTA>ATA p.L132I NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 132 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 TTTTTAATTAAGGACTTCAGC 0.363000 CLIP3 25999 broad.mit.edu 37 19 36515298 36515300 + Splice_Site DEL CTT CTT - TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:36515297_36515299CCTT>C uc010eeq.2 - 6 1232 c.918_splice c.e6+1 p.K306_splice BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Splice_Site_p.K306_splice NM_001199570 NP_001186499 Q96DZ5 CLIP3_HUMAN Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA. 306 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CAGCCCCTGACCTTCTGGCCATC 0.621 CLIP3 25999 broad.mit.edu 37 19 36515298 36515300 + Splice_Site DEL CTT CTT - TCGA-BR-6457-01A-21D-1800-08 TCGA-BR-6457-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx a79bb4ec-4479-4a1f-97c6-fe1b0a99c2f6 b862ca4f-f9c3-4a54-9af8-11128af80cc4 g.chr19:36515297_36515299CCTT>C uc010eeq.2 - 6 1232 c.918_splice c.e6+1 p.K306_splice BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Splice_Site_p.K306_splice NM_001199570 NP_001186499 Q96DZ5 CLIP3_HUMAN Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA. 306 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CAGCCCCTGACCTTCTGGCCATC 0.621