Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter WDR8 49856 broad.mit.edu 37 1 3553570 3553570 + Nonsense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:3553570G>A uc001ako.2 - 5 613 c.505C>T c.(505-507)CAG>TAG p.Q169* WDR8_uc001akn.3_Nonsense_Mutation_p.Q169*|WDR8_uc010nzi.1_Nonsense_Mutation_p.Q169* NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN WD repeat domain 8 169 centrosome protein binding 0 all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CGCAGGAGCTGCCAATCACTG 0.562 5 17 --- --- --- --- PASS PLEKHM2 23207 broad.mit.edu 37 1 16054794 16054794 + Silent SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:16054794C>A uc010obo.1 + 11 2090 c.1863C>A c.(1861-1863)GGC>GGA p.G621G NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 621 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ACATGGAGGGCAACCTGCAGC 0.672 8 9 --- --- --- --- PASS USP48 84196 broad.mit.edu 37 1 22063027 22063027 + Silent SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:22063027T>C uc001bfb.2 - 9 1321 c.1083A>G c.(1081-1083)CCA>CCG p.P361P USP48_uc010odq.1_Silent_p.P361P|USP48_uc009vqc.2_Silent_p.P361P|USP48_uc001bfc.2_Silent_p.P361P|USP48_uc001bfe.1_Silent_p.P361P|USP48_uc001bff.2_Silent_p.P361P NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 361 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CACCAGACTGTGGATCTTTCA 0.443 14 40 --- --- --- --- PASS S100PBP 64766 broad.mit.edu 37 1 33321622 33321622 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:33321622G>T uc001bvz.2 + 7 1487 c.1210G>T c.(1210-1212)GAC>TAC p.D404Y S100PBP_uc001bwc.2_Missense_Mutation_p.D404Y|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 404 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GCGTCTCCCAGACTTCTCGTA 0.493 7 33 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37307519 37307519 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:37307519G>A uc001caz.2 - 10 1483 c.1348C>T c.(1348-1350)CGG>TGG p.R450W GRIK3_uc001cba.1_Missense_Mutation_p.R450W NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 450 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TCTGATTTCCGAAACATGACG 0.567 22 79 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 62973692 62973692 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:62973692C>T uc001daq.2 - 35 4424 c.4390G>A c.(4390-4392)GGA>AGA p.G1464R DOCK7_uc001dan.2_Missense_Mutation_p.G1325R|DOCK7_uc001dao.2_Missense_Mutation_p.G1325R|DOCK7_uc001dap.2_Missense_Mutation_p.G1442R|DOCK7_uc001dam.2_Missense_Mutation_p.G644R|DOCK7_uc010oov.1_Missense_Mutation_p.G203R NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1473 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GCCAGGTTTCCATCAATCAGT 0.303 6 22 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66102541 66102541 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:66102541G>A uc001dci.2 + 20 3543 c.3341G>A c.(3340-3342)AGA>AAA p.R1114K LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1114 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ACGGACATCAGAGTTCTCCAG 0.433 8 25 --- --- --- --- PASS PDE4B 5142 broad.mit.edu 37 1 66713282 66713282 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:66713282G>T uc001dcn.2 + 4 612 c.421G>T c.(421-423)GAC>TAC p.D141Y PDE4B_uc009war.2_Missense_Mutation_p.D49Y|PDE4B_uc001dco.2_Missense_Mutation_p.D141Y|PDE4B_uc001dcp.2_Missense_Mutation_p.D126Y NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 141 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ATCAGACAGCGACTATGACTT 0.522 20 48 --- --- --- --- PASS DIRAS3 9077 broad.mit.edu 37 1 68512321 68512321 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:68512321C>T uc001ded.2 - 2 955 c.660G>A c.(658-660)GAG>GAA p.E220E uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 220 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 CAAGCAGCTTCTCAGTGGTGT 0.507 9 51 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70503937 70503937 + Silent SNP G C C rs12567778 byFrequency TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:70503937G>C uc001dep.2 + 19 2346 c.2316G>C c.(2314-2316)TCG>TCC p.S772S LRRC7_uc009wbg.2_Silent_p.S56S|LRRC7_uc001deq.2_Silent_p.S13S NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 772 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CTGATGGCTCGCATTATGACA 0.507 18 64 --- --- --- --- PASS FPGT 8790 broad.mit.edu 37 1 74670749 74670749 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:74670749C>T uc001dgb.1 + 4 1055 c.1018C>T c.(1018-1020)CTT>TTT p.L340F TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 340 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 AATATTTCATCTTCTTAAAGG 0.353 14 30 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103470046 103470046 + Splice_Site SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:103470046T>C uc001dul.2 - 20 2218 c.1900_splice c.e20-1 p.G634_splice COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G646_splice|COL11A1_uc001dun.2_Splice_Site_p.G595_splice|COL11A1_uc009weh.2_Splice_Site_p.G518_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATCTTCTCCCTGTCATTGACA 0.284 3 13 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152282314 152282314 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:152282314G>A uc001ezu.1 - 3 5084 c.5048C>T c.(5047-5049)TCC>TTC p.S1683F NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1683 Ser-rich.|Filaggrin 10. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGTGGCGGGATCCATGTCT 0.562 Ichthyosis 232 287 --- --- --- --- PASS GPR161 23432 broad.mit.edu 37 1 168065986 168065986 + Missense_Mutation SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:168065986T>C uc001gfc.2 - 5 1173 c.859A>G c.(859-861)ATG>GTG p.M287V GPR161_uc001gfb.2_Missense_Mutation_p.M155V|GPR161_uc010pll.1_Missense_Mutation_p.M197V|GPR161_uc010plm.1_Missense_Mutation_p.M173V|GPR161_uc009wvo.2_Missense_Mutation_p.M304V|GPR161_uc001gfd.2_Missense_Mutation_p.M287V|GPR161_uc010pln.1_Missense_Mutation_p.M307V|GPR161_uc001gfe.1_Missense_Mutation_p.M287V NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 287 Helical; Name=6; (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) ATGACAACCATGTAGGGGCCC 0.612 28 88 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235331905 235331905 + Silent SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:235331905A>G uc001hwq.2 - 24 4372 c.3874T>C c.(3874-3876)TTA>CTA p.L1292L ARID4B_uc001hwr.2_Silent_p.L1206L|ARID4B_uc001hwp.2_RNA NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 1292 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GCTAAAGTTAACATAACAGCA 0.443 4 33 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235331906 235331906 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:235331906C>A uc001hwq.2 - 24 4371 c.3873G>T c.(3871-3873)ATG>ATT p.M1291I ARID4B_uc001hwr.2_Missense_Mutation_p.M1205I|ARID4B_uc001hwp.2_RNA NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 1291 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTAAAGTTAACATAACAGCAG 0.438 4 34 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237758806 237758806 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:237758806G>C uc001hyl.1 + 34 4565 c.4445G>C c.(4444-4446)CGC>CCC p.R1482P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1482 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCATCAAACGCAGCAACTGC 0.443 21 46 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237774129 237774129 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:237774129C>T uc001hyl.1 + 36 4871 c.4751C>T c.(4750-4752)CCG>CTG p.P1584L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1584 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGTGCCCCCCGCGCCTCCAC 0.542 9 22 --- --- --- --- PASS CNST 163882 broad.mit.edu 37 1 246829021 246829021 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:246829021C>T uc001ibp.2 + 11 2370 c.1992C>T c.(1990-1992)TCC>TCT p.S664S NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 664 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 GAGGTGGCTCCTGTATTTTGC 0.428 15 45 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247025278 247025278 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:247025278G>A uc001ibu.1 - 27 3725 c.3718C>T c.(3718-3720)CCA>TCA p.P1240S AHCTF1_uc001ibv.1_Missense_Mutation_p.P1249S|AHCTF1_uc009xgs.1_Missense_Mutation_p.P101S|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1240 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ATCCATTTTGGGTGGACATCT 0.358 23 30 --- --- --- --- PASS OR2L3 391192 broad.mit.edu 37 1 248224555 248224555 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr1:248224555C>A uc001idx.1 + 1 572 c.572C>A c.(571-573)ACC>AAC p.T191N OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TGCATGGACACCTGGGTCTAT 0.478 23 125 --- --- --- --- PASS WDR35 57539 broad.mit.edu 37 2 20153629 20153629 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:20153629G>C uc002rdi.2 - 13 1507 c.1399C>G c.(1399-1401)CAG>GAG p.Q467E WDR35_uc002rdj.2_Missense_Mutation_p.Q456E|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.Q32E|WDR35_uc002rdk.3_Missense_Mutation_p.Q32E NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 467 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGTGTGATCTGATTAATTTCC 0.383 53 93 --- --- --- --- PASS DHX57 90957 broad.mit.edu 37 2 39095469 39095469 + Missense_Mutation SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:39095469T>C uc002rrf.2 - 2 178 c.79A>G c.(79-81)AGG>GGG p.R27G DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R27G NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 27 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) GCGTGACTCCTGCCTCCTCTT 0.368 17 96 --- --- --- --- PASS SRBD1 55133 broad.mit.edu 37 2 45778336 45778336 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:45778336G>A uc002rus.2 - 12 1679 c.1603C>T c.(1603-1605)CCA>TCA p.P535S SRBD1_uc010yoc.1_Missense_Mutation_p.P54S NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 535 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GTGCGCCCTGGAACAGGGCTT 0.403 9 48 --- --- --- --- PASS RTN4 57142 broad.mit.edu 37 2 55253647 55253647 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:55253647C>G uc002rye.2 - 3 1886 c.1588G>C c.(1588-1590)GTC>CTC p.V530L RTN4_uc002ryd.2_Missense_Mutation_p.V324L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 530 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 TCTGTTGTGACATAATCTGTC 0.398 28 66 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74042819 74042819 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:74042819G>T uc002sjr.1 + 3 1590 c.1469G>T c.(1468-1470)TGT>TTT p.C490F NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 490 ovary(2) 2 GAAAAGTCATGTGTCATAAAG 0.463 20 62 --- --- --- --- PASS SLC20A1 6574 broad.mit.edu 37 2 113405026 113405026 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:113405026G>C uc002tib.2 + 3 906 c.460G>C c.(460-462)GAA>CAA p.E154Q uc010fkq.1_5'Flank NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 154 Extracellular (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 CAAGTGGTCTGAACTGATAAA 0.418 47 121 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141457889 141457889 + Nonsense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:141457889G>T uc002tvj.1 - 41 7701 c.6729C>A c.(6727-6729)TAC>TAA p.Y2243* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2243 Extracellular (Potential).|LDL-receptor class B 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTGCATCACTGTAAAAGATTC 0.343 TSP Lung(27;0.18) 20 63 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166165204 166165204 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:166165204G>C uc002udc.2 + 5 795 c.505G>C c.(505-507)GAA>CAA p.E169Q SCN2A_uc002udd.2_Missense_Mutation_p.E169Q|SCN2A_uc002ude.2_Missense_Mutation_p.E169Q NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 169 I.|Helical; Name=S2 of repeat I; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TTATACTTTTGAATCACTTAT 0.318 26 38 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098953 178098953 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:178098953C>G uc002ulh.3 - 2 647 c.92G>C c.(91-93)GGA>GCA p.G31A NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 31 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G31R(1) central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCGACTTACTCCAAGATCTAT 0.363 Mis NSCLC|HNSCC HNSCC(56;0.16) 8 44 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179434029 179434029 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:179434029G>T uc010zfg.1 - 275 69350 c.69126C>A c.(69124-69126)GTC>GTA p.V23042V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V16737V|TTN_uc010zfi.1_Silent_p.V16670V|TTN_uc010zfj.1_Silent_p.V16545V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23969 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATTTCTGTGACTTTCAGGT 0.403 50 187 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179606435 179606435 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:179606435G>A uc010zfh.1 - 46 11236 c.11012C>T c.(11011-11013)ACT>ATT p.T3671I TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3604I|TTN_uc010zfj.1_Missense_Mutation_p.T3479I|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3643 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCAATGACAGTTACAGACAG 0.403 8 42 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196759756 196759756 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:196759756C>T uc002utj.3 - 30 4941 c.4840G>A c.(4840-4842)GGA>AGA p.G1614R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1614 ATP (Potential).|AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CTAGTTTTTCCTCCAAATGGT 0.318 3 27 --- --- --- --- PASS STK17B 9262 broad.mit.edu 37 2 197004392 197004392 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:197004392G>A uc002utk.2 - 7 1112 c.788C>T c.(787-789)TCA>TTA p.S263L STK17B_uc010fsh.2_Missense_Mutation_p.S263L NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 263 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) GGCCAGCTGTGAAACTGATGA 0.294 13 45 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211521310 211521310 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr2:211521310C>A uc002vee.3 + 30 3752 c.3620C>A c.(3619-3621)ACT>AAT p.T1207N CPS1_uc010fur.2_Missense_Mutation_p.T1213N|CPS1_uc010fus.2_Missense_Mutation_p.T756N NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1207 ATP-grasp 2. 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) GGAGATGCCACTCTGATGCTG 0.403 15 42 --- --- --- --- PASS SEC13 6396 broad.mit.edu 37 3 10347307 10347307 + Nonsense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:10347307G>A uc003bvn.2 - 6 639 c.520C>T c.(520-522)CAG>TAG p.Q174* SEC13_uc003bvl.2_Nonsense_Mutation_p.Q106*|SEC13_uc003bvm.2_Nonsense_Mutation_p.Q160*|SEC13_uc003bvp.2_Nonsense_Mutation_p.Q177*|SEC13_uc003bvo.2_Nonsense_Mutation_p.Q220*|SEC13_uc003bvq.1_Nonsense_Mutation_p.Q160*|SEC13_uc003bvr.1_Nonsense_Mutation_p.Q160* NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 174 WD 4. COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 TTGGGTTTCTGCCCCGATGGG 0.532 29 77 --- --- --- --- PASS FGD5 152273 broad.mit.edu 37 3 14862234 14862234 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:14862234C>T uc003bzc.2 + 1 1766 c.1656C>T c.(1654-1656)TCC>TCT p.S552S FGD5_uc011avk.1_Silent_p.S552S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 552 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GGTCGTTCTCCGTGGAAGGCC 0.552 12 21 --- --- --- --- PASS NGLY1 55768 broad.mit.edu 37 3 25777608 25777608 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:25777608G>T uc003cdl.2 - 7 1144 c.1036C>A c.(1036-1038)CAG>AAG p.Q346K NGLY1_uc010hfg.2_Intron|NGLY1_uc003cdm.2_Missense_Mutation_p.Q346K|NGLY1_uc011awo.1_Missense_Mutation_p.Q304K|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 346 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 CACCGCTGCTGAGAAGGAGAA 0.413 7 21 --- --- --- --- PASS OSBPL10 114884 broad.mit.edu 37 3 31871555 31871555 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:31871555C>T uc003cev.2 - 5 1087 c.706G>A c.(706-708)GGC>AGC p.G236S OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 236 lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) TGAAGCTGGCCGGAATACTGA 0.597 7 20 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39227557 39227557 + Missense_Mutation SNP A T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:39227557A>T uc003cjk.1 - 2 3601 c.3380T>A c.(3379-3381)CTA>CAA p.L1127Q XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1127 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCCTCTGGGTAGTGCTTGCTC 0.602 21 27 --- --- --- --- PASS TRAK1 22906 broad.mit.edu 37 3 42133051 42133051 + Nonsense_Mutation SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:42133051T>A uc003cky.2 + 1 306 c.90T>A c.(88-90)TGT>TGA p.C30* TRAK1_uc011azh.1_Nonsense_Mutation_p.C30*|TRAK1_uc011azi.1_Nonsense_Mutation_p.C30* NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 30 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CAAACGCCTGTGGTAAGTTTG 0.527 5 5 --- --- --- --- PASS PDE12 201626 broad.mit.edu 37 3 57545540 57545540 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:57545540C>A uc003diw.3 + 3 1765 c.1639C>A c.(1639-1641)CCT>ACT p.P547T PDE12_uc003div.2_3'UTR NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 547 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TTGTGGTGAACCTGCTTACAC 0.403 46 45 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 121100357 121100357 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:121100357G>T uc003eec.3 + 23 2777 c.2637G>T c.(2635-2637)GAG>GAT p.E879D STXBP5L_uc011bji.1_Missense_Mutation_p.E855D NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 879 WD 11. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GGTTTACAGAGCCAGTCATGG 0.358 51 40 --- --- --- --- PASS COPG 22820 broad.mit.edu 37 3 128996139 128996139 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:128996139G>A uc003els.2 + 24 2597 c.2497G>A c.(2497-2499)GTG>ATG p.V833M COPG_uc010htb.2_Missense_Mutation_p.V739M|C3orf37_uc003elt.2_5'Flank|C3orf37_uc003elu.2_5'Flank|C3orf37_uc003elv.2_5'Flank|C3orf37_uc003elw.2_5'Flank NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 833 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 CCTTCTAGGTGTGTTCCGGGG 0.502 5 102 --- --- --- --- PASS GPR87 53836 broad.mit.edu 37 3 151012086 151012086 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:151012086G>T uc003eyt.2 - 3 1309 c.948C>A c.(946-948)TTC>TTA p.F316L MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 316 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACCTACACATGAAAAAGTAAA 0.348 58 80 --- --- --- --- PASS NMD3 51068 broad.mit.edu 37 3 160965101 160965101 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:160965101G>A uc003feb.1 + 13 1305 c.1186G>A c.(1186-1188)GAT>AAT p.D396N NMD3_uc003fec.2_Missense_Mutation_p.D396N|NMD3_uc003fed.1_Missense_Mutation_p.D396N|NMD3_uc010hwh.2_Missense_Mutation_p.D216N NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 396 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) AATGAACTCAGATAGAGTTCC 0.363 4 61 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192516538 192516538 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:192516538G>T uc011bsp.1 - 2 1434 c.1113C>A c.(1111-1113)AAC>AAA p.N371K NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 371 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) GGCACATCTTGTTGACCAGAC 0.532 7 52 --- --- --- --- PASS ACAP2 23527 broad.mit.edu 37 3 195027347 195027347 + Splice_Site SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr3:195027347T>A uc003fun.3 - 13 1252 c.1011_splice c.e13-1 p.K337_splice NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 ATGCAACTTCTAAAAGGAAAT 0.373 79 90 --- --- --- --- PASS ABLIM2 84448 broad.mit.edu 37 4 8046942 8046942 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:8046942G>T uc003gko.2 - 9 992 c.849C>A c.(847-849)ATC>ATA p.I283I ABLIM2_uc003gkl.2_Silent_p.I33I|ABLIM2_uc003gkj.3_Silent_p.I283I|ABLIM2_uc003gkm.3_Silent_p.I283I|ABLIM2_uc003gkp.2_Silent_p.I283I|ABLIM2_uc003gkq.2_Silent_p.I283I|ABLIM2_uc003gkr.2_Silent_p.I283I|ABLIM2_uc003gks.3_Silent_p.I283I|ABLIM2_uc011bwl.1_Silent_p.I288I NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 283 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 GGACAGAAATGATGCTCTCTG 0.537 16 49 --- --- --- --- PASS RELL1 768211 broad.mit.edu 37 4 37633048 37633048 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:37633048C>G uc003gsz.2 - 6 868 c.778G>C c.(778-780)GCA>CCA p.A260P RELL1_uc010ifc.2_Missense_Mutation_p.A260P NM_001085399 NP_001078868 Q8IUW5 RELL1_HUMAN receptor expressed in lymphoid tissues like 1 260 Cytoplasmic (Potential). cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane 0 ACAGGTGTTGCCGGCACCTCC 0.532 22 58 --- --- --- --- PASS REST 5978 broad.mit.edu 37 4 57797830 57797830 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:57797830G>T uc003hch.2 + 4 3153 c.2806G>T c.(2806-2808)GGT>TGT p.G936C REST_uc003hci.2_Missense_Mutation_p.G936C|REST_uc010ihf.2_Missense_Mutation_p.G610C NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 936 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) AACTTTAAATGGTAAACATCA 0.388 4 37 --- --- --- --- PASS ANKRD56 345079 broad.mit.edu 37 4 77816829 77816829 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:77816829G>T uc003hki.2 - 1 2174 c.2174C>A c.(2173-2175)GCT>GAT p.A725D NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 725 0 GCCCCGAGGAGCTCCCAACAG 0.507 42 142 --- --- --- --- PASS NEUROG2 63973 broad.mit.edu 37 4 113436154 113436154 + Missense_Mutation SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:113436154A>G uc003ias.2 - 2 805 c.478T>C c.(478-480)TAC>CAC p.Y160H NM_024019 NP_076924 Q9H2A3 NGN2_HUMAN neurogenin 2 160 Helix-loop-helix motif. positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding skin(2)|central_nervous_system(1) 3 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) GCCCAGATGTAGTTGTGGGCG 0.537 11 22 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115773882 115773882 + Silent SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:115773882T>C uc003ibu.2 - 8 2494 c.1815A>G c.(1813-1815)ACA>ACG p.T605T NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 605 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.|PAPS (By similarity). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TATTTTTACCTGTTTTTTGTG 0.303 5 8 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115997337 115997337 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:115997337C>G uc003ibu.2 - 2 1535 c.856G>C c.(856-858)GAT>CAT p.D286H NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 286 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GAGATGGCATCTATGAAGATG 0.443 47 49 --- --- --- --- PASS PLRG1 5356 broad.mit.edu 37 4 155458514 155458514 + Missense_Mutation SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:155458514A>G uc003iny.2 - 14 1472 c.1409T>C c.(1408-1410)TTT>TCT p.F470S PLRG1_uc003inz.2_Missense_Mutation_p.F461S NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 470 WD 7. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) AGACTGATCAAAAGCACAAGC 0.423 10 34 --- --- --- --- PASS TMEM144 55314 broad.mit.edu 37 4 159140530 159140530 + Missense_Mutation SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr4:159140530T>A uc003ipx.2 + 6 921 c.401T>A c.(400-402)CTA>CAA p.L134Q TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 134 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) GGAGCTGGGCTATCAGTAGTA 0.363 20 35 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5182171 5182171 + Silent SNP A T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:5182171A>T uc003jdl.2 + 4 654 c.516A>T c.(514-516)CGA>CGT p.R172R ADAMTS16_uc003jdk.1_Silent_p.R172R|ADAMTS16_uc003jdj.1_Silent_p.R172R NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 172 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GCATGATACGAACAGAAGAGG 0.463 14 120 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31526873 31526873 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:31526873G>T uc003jhg.2 - 4 526 c.167C>A c.(166-168)CCA>CAA p.P56Q RNASEN_uc003jhh.2_Missense_Mutation_p.P56Q|RNASEN_uc003jhi.2_Missense_Mutation_p.P56Q|RNASEN_uc010iui.1_Missense_Mutation_p.P47Q NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 56 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 AGGGGCACTTGGAGGTTCATA 0.562 3 14 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33534964 33534964 + Missense_Mutation SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:33534964T>A uc003jia.1 - 23 4743 c.4580A>T c.(4579-4581)AAC>ATC p.N1527I ADAMTS12_uc010iuq.1_Missense_Mutation_p.N1442I NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1527 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGCCTGCTGGTTGCATTTTTT 0.463 HNSCC(64;0.19) 13 90 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36143415 36143415 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:36143415C>A uc003jkb.1 - 2 452 c.37G>T c.(37-39)GTC>TTC p.V13F NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 13 Helical; (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAAAAAAGACAAAAACAATC 0.363 12 64 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40852859 40852859 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:40852859C>T uc003jmg.2 + 3 1500 c.1425C>T c.(1423-1425)CTC>CTT p.L475L NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 475 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 ACACACTTCTCAGCCCTGCCC 0.428 11 45 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382440 41382440 + Silent SNP G T T rs146343766 TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:41382440G>T uc003jmm.1 - 2 402 c.300C>A c.(298-300)TCC>TCA p.S100S NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 100 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.S100S(1) skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TGGGCTTGGTGGAAATTCGAA 0.453 7 53 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43650653 43650653 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:43650653G>T uc003joe.2 + 12 1936 c.1681G>T c.(1681-1683)GCT>TCT p.A561S NNT_uc003jof.2_Missense_Mutation_p.A561S NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 561 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GGGCCTTGCTGCTCTTGCTGC 0.428 8 42 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118529647 118529647 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:118529647C>G uc003ksd.2 + 30 7620 c.7439C>G c.(7438-7440)TCT>TGT p.S2480C DMXL1_uc010jcl.1_Missense_Mutation_p.S2480C NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2480 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CAGGAACATTCTAATTCAAAT 0.194 6 17 --- --- --- --- PASS PHAX 51808 broad.mit.edu 37 5 125960471 125960471 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:125960471G>A uc003kua.1 + 5 1142 c.1120G>A c.(1120-1122)GAA>AAA p.E374K NM_032177 NP_115553 Q9H814 PHAX_HUMAN RNA U, small nuclear RNA export adaptor 374 ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding 0 AGGACATGCAGAAGCCAAGTT 0.408 11 63 --- --- --- --- PASS CDC23 8697 broad.mit.edu 37 5 137527989 137527989 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:137527989G>T uc003lcl.2 - 11 1286 c.1255C>A c.(1255-1257)CTT>ATT p.L419I NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 419 TPR 7. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAATAATAAAGGCAGTAAAAT 0.438 4 45 --- --- --- --- PASS SH3RF2 153769 broad.mit.edu 37 5 145393529 145393529 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:145393529G>A uc003lnt.2 + 5 1202 c.964G>A c.(964-966)GAG>AAG p.E322K SH3RF2_uc011dbl.1_Missense_Mutation_p.E322K NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 322 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATATGGTAGAGATCAGCAC 0.572 21 88 --- --- --- --- PASS CLK4 57396 broad.mit.edu 37 5 178043908 178043908 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:178043908C>G uc003mjf.1 - 5 625 c.517G>C c.(517-519)GTT>CTT p.V173L CLK4_uc003mjg.1_Missense_Mutation_p.V137L|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.V173L|CLK4_uc011dgh.1_5'UTR NM_020666 NP_065717 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 173 ATP (By similarity).|Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(1) 1 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) CACTCTACAACTTTGCCAAAG 0.378 12 21 --- --- --- --- PASS CLK4 57396 broad.mit.edu 37 5 178043926 178043926 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr5:178043926C>T uc003mjf.1 - 5 607 c.499G>A c.(499-501)GAA>AAA p.E167K CLK4_uc003mjg.1_Missense_Mutation_p.E131K|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.E167K|CLK4_uc011dgh.1_5'UTR NM_020666 NP_065717 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 167 ATP (By similarity).|Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(1) 1 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) AAGGCTCCTTCACCCAAAGTG 0.388 12 23 --- --- --- --- PASS HIST1H3B 8358 broad.mit.edu 37 6 26032069 26032069 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr6:26032069C>T uc003nfs.1 - 1 220 c.220G>A c.(220-222)GAA>AAA p.E74K NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 74 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 TGGGCGATTTCTCGCACCAGG 0.607 24 61 --- --- --- --- PASS BTN3A3 10384 broad.mit.edu 37 6 26452620 26452620 + Missense_Mutation SNP G A A rs144256388 TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr6:26452620G>A uc003nhz.2 + 11 1916 c.1736G>A c.(1735-1737)CGC>CAC p.R579H BTN3A3_uc003nia.2_Missense_Mutation_p.R537H|BTN3A3_uc011dkn.1_Missense_Mutation_p.R530H NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 579 Cytoplasmic (Potential). integral to membrane 0 CTACAGGcacgcactgaagca 0.264 4 19 --- --- --- --- PASS RNF8 9025 broad.mit.edu 37 6 37328291 37328291 + Silent SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr6:37328291C>A uc003onq.3 + 2 374 c.181C>A c.(181-183)CGA>AGA p.R61R RNF8_uc003onr.3_Silent_p.R61R|RNF8_uc011dtx.1_5'UTR NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 61 FHA. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 GATGATTTCTCGAAACCACTG 0.413 4 69 --- --- --- --- PASS KIAA0240 23506 broad.mit.edu 37 6 42823596 42823596 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr6:42823596G>T uc003osn.1 + 9 2200 c.2049G>T c.(2047-2049)GTG>GTT p.V683V KIAA0240_uc011duw.1_Silent_p.V683V|KIAA0240_uc003osp.1_Silent_p.V683V NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 683 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GTCTTTAGGTGGAGAGTCATT 0.358 5 190 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64395298 64395298 + Nonsense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr6:64395298C>T uc003pep.1 + 3 1701 c.1675C>T c.(1675-1677)CAG>TAG p.Q559* PHF3_uc010kaf.1_Nonsense_Mutation_p.Q559*|PHF3_uc003pem.2_Nonsense_Mutation_p.Q512*|PHF3_uc010kag.1_Nonsense_Mutation_p.Q471*|PHF3_uc010kah.1_Nonsense_Mutation_p.Q373*|PHF3_uc003pen.2_Nonsense_Mutation_p.Q471*|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Nonsense_Mutation_p.Q559* NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 559 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GCCAAAGATTCAGAGTTGCAA 0.343 8 38 --- --- --- --- PASS MED23 9439 broad.mit.edu 37 6 131917168 131917168 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr6:131917168G>T uc003qcs.1 - 22 3088 c.2914C>A c.(2914-2916)CAC>AAC p.H972N MED23_uc003qcq.2_Missense_Mutation_p.H978N|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.H613N NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 972 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AAAAATCTGTGGATTACTATA 0.408 5 115 --- --- --- --- PASS C7orf31 136895 broad.mit.edu 37 7 25176259 25176259 + Missense_Mutation SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:25176259T>C uc003sxn.1 - 10 1666 c.1105A>G c.(1105-1107)ACC>GCC p.T369A C7orf31_uc003sxm.1_Missense_Mutation_p.T211A NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 369 0 GGTACAAAGGTATGAAAATTA 0.423 38 54 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31682731 31682731 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:31682731C>A uc003tcj.1 + 11 2740 c.1747C>A c.(1747-1749)CCT>ACT p.P583T CCDC129_uc011kad.1_Missense_Mutation_p.P593T|CCDC129_uc003tci.1_Missense_Mutation_p.P434T|CCDC129_uc011kae.1_Missense_Mutation_p.P609T|CCDC129_uc003tck.1_Missense_Mutation_p.P491T NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 583 0 TTTTGTGAGGCCTGAGGGAGC 0.483 30 215 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48315064 48315064 + Missense_Mutation SNP A T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:48315064A>T uc003toq.2 + 17 5826 c.5801A>T c.(5800-5802)CAA>CTA p.Q1934L ABCA13_uc010kyr.2_Missense_Mutation_p.Q1437L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1934 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TCAATAAATCAAACTAGGGAT 0.358 26 103 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53104213 53104213 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:53104213C>G uc003tpz.2 + 1 865 c.849C>G c.(847-849)TTC>TTG p.F283L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 283 0 GGGTCTCCTTCGCCCTCGAGG 0.617 10 22 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87800867 87800867 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:87800867G>A uc003ujn.2 + 26 2370 c.2291G>A c.(2290-2292)CGA>CAA p.R764Q ADAM22_uc003ujk.1_Missense_Mutation_p.R764Q|ADAM22_uc003ujl.1_Missense_Mutation_p.R764Q|ADAM22_uc003ujm.2_Missense_Mutation_p.R764Q|ADAM22_uc003ujo.2_Missense_Mutation_p.R764Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R816Q NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 764 Cytoplasmic (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AGAAACTATCGAGAACAGAGG 0.333 7 42 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107824715 107824715 + Silent SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:107824715T>C uc003vfb.2 - 22 2745 c.2274A>G c.(2272-2274)TCA>TCG p.S758S NRCAM_uc003vfc.2_Silent_p.S742S|NRCAM_uc011kmk.1_Silent_p.S753S|NRCAM_uc003vfd.2_Silent_p.S734S|NRCAM_uc003vfe.2_Silent_p.S734S NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 758 Fibronectin type-III 2.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TATCAGGCTCTGATCCCAGTC 0.388 4 32 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117180378 117180378 + Missense_Mutation SNP T C C rs76727851 TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:117180378T>C uc003vjd.2 + 8 1226 c.1094T>C c.(1093-1095)CTT>CCT p.L365P CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 365 Cytoplasmic (Potential).|ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TATGACTCTCTTGGAGCAATA 0.383 Cystic_Fibrosis 13 62 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 121985692 121985692 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:121985692C>G uc010lkp.2 - 27 3711 c.3548G>C c.(3547-3549)CGG>CCG p.R1183P CADPS2_uc011knx.1_Missense_Mutation_p.R558P|CADPS2_uc003vkg.3_Missense_Mutation_p.R837P|CADPS2_uc010lkq.2_Missense_Mutation_p.R1142P NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1183 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TTGGTTTTGCCGAACAAACAT 0.373 12 81 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122755644 122755644 + Nonsense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:122755644C>T uc003vkm.2 - 15 1741 c.1716G>A c.(1714-1716)TGG>TGA p.W572* SLC13A1_uc010lks.2_Nonsense_Mutation_p.W448* NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 572 Helical; (Potential). integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TGGGTACAATCCAAGTACATA 0.433 15 56 --- --- --- --- PASS SND1 27044 broad.mit.edu 37 7 127544839 127544839 + Silent SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:127544839A>G uc003vmi.2 + 14 1720 c.1494A>G c.(1492-1494)GAA>GAG p.E498E SND1_uc010lle.2_Silent_p.E151E NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 498 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 GCAAGAAGGAAGTGCCTATCC 0.458 8 65 --- --- --- --- PASS DENND2A 27147 broad.mit.edu 37 7 140255464 140255464 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:140255464C>A uc010lnj.2 - 10 2154 c.2009G>T c.(2008-2010)CGC>CTC p.R670L DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R670L|DENND2A_uc003vvw.2_Missense_Mutation_p.R670L|DENND2A_uc003vvx.2_Missense_Mutation_p.R670L NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 670 DENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) GCATCCCAGGCGGCTCACAAT 0.527 48 79 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142723325 142723325 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr7:142723325C>A uc003wcc.1 - 1 895 c.895G>T c.(895-897)GAT>TAT p.D299Y NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TTCATCCCATCTCGGAGGGCC 0.428 28 51 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3257006 3257006 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:3257006G>T uc011kwk.1 - 16 2705 c.2315C>A c.(2314-2316)CCT>CAT p.P772H CSMD1_uc011kwj.1_Missense_Mutation_p.P164H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 772 Extracellular (Potential).|CUB 5. 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) CCATCCAGGAGGCAAAATGAC 0.403 7 39 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 15978098 15978098 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:15978098G>T uc003wwz.2 - 9 1249 c.1051C>A c.(1051-1053)CGA>AGA p.R351R MSR1_uc010lsu.2_Silent_p.R369R|MSR1_uc003wxa.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 351 SRCR.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCGACCAGTCGAACTTTCGTA 0.453 16 26 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35608158 35608158 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:35608158C>A uc003xjr.1 + 13 2322 c.1994C>A c.(1993-1995)GCG>GAG p.A665E UNC5D_uc003xjs.1_Missense_Mutation_p.A660E|UNC5D_uc003xju.1_Missense_Mutation_p.A241E NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 665 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GACCCCTTTGCGTGTCATGTG 0.488 14 57 --- --- --- --- PASS CHRNA6 8973 broad.mit.edu 37 8 42611507 42611507 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:42611507G>T uc003xpj.2 - 5 881 c.835C>A c.(835-837)CTG>ATG p.L279M CHRNA6_uc011lcw.1_Missense_Mutation_p.L264M NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 279 Helical; (Potential). cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) AGAGAAAGCAGGACTGAAATA 0.448 5 89 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48824970 48824970 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:48824970C>A uc003xqi.2 - 25 2991 c.2934G>T c.(2932-2934)CAG>CAT p.Q978H PRKDC_uc003xqj.2_Missense_Mutation_p.Q978H|PRKDC_uc011ldh.1_Missense_Mutation_p.Q978H NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 978 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAGCCCTTACCTGATCAACAT 0.413 NHEJ 6 166 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61735123 61735123 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:61735123C>T uc003xue.2 + 12 3496 c.3019C>T c.(3019-3021)CTC>TTC p.L1007F CHD7_uc003xuf.2_Missense_Mutation_p.L120F NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1007 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CATTACATTTCTCTATGAGAT 0.388 30 100 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71078966 71078966 + Nonsense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:71078966C>A uc003xyn.1 - 7 727 c.565G>T c.(565-567)GAA>TAA p.E189* NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 189 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CTCGGAGGTTCGCCAGACCAA 0.428 T RUNXBP2 AML 33 179 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763355 77763355 + Missense_Mutation SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:77763355A>G uc003yav.2 + 10 4450 c.4063A>G c.(4063-4065)AAC>GAC p.N1355D ZFHX4_uc003yau.1_Missense_Mutation_p.N1400D|ZFHX4_uc003yaw.1_Missense_Mutation_p.N1355D NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1355 C2H2-type 10. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTATCGCTGTAACCATTGTAG 0.453 HNSCC(33;0.089) 9 41 --- --- --- --- PASS RALYL 138046 broad.mit.edu 37 8 85785583 85785583 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:85785583C>T uc003ycq.3 + 8 1052 c.636C>T c.(634-636)TCC>TCT p.S212S RALYL_uc003ycr.3_Silent_p.S212S|RALYL_uc003ycs.3_Silent_p.S212S|RALYL_uc010lzy.2_Silent_p.S201S|RALYL_uc003yct.3_Silent_p.S225S|RALYL_uc003ycu.3_Silent_p.S139S|RALYL_uc003ycv.3_Silent_p.S124S NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 212 Potential. identical protein binding|nucleotide binding|RNA binding ovary(1) 1 AAATTGACTCCTTGCTAGGGC 0.428 7 21 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87235284 87235284 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:87235284G>A uc003ydq.1 - 2 832 c.734C>T c.(733-735)GCG>GTG p.A245V SLC7A13_uc003ydr.1_Missense_Mutation_p.A236V NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 245 Helical; Name=7; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 CAGAGGTAACGCAGTAAATAT 0.383 26 110 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92307881 92307881 + Nonsense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr8:92307881C>T uc003yex.2 + 5 705 c.427C>T c.(427-429)CAA>TAA p.Q143* SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Nonsense_Mutation_p.Q143*|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.Q143* NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 143 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTTTGAAATGCAAAGGATCCA 0.498 16 45 --- --- --- --- PASS GLDC 2731 broad.mit.edu 37 9 6540093 6540093 + Missense_Mutation SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:6540093T>A uc003zkc.2 - 22 2816 c.2623A>T c.(2623-2625)AAT>TAT p.N875Y NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 875 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GCCTCAATATTTGCAGACTTT 0.453 12 59 --- --- --- --- PASS ACER2 340485 broad.mit.edu 37 9 19424709 19424709 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:19424709G>A uc003zny.1 + 3 393 c.235G>A c.(235-237)GTC>ATC p.V79I ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.V30I NM_001010887 NP_001010887 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 79 Helical; (Potential). ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 AATTGGATCCGTCTACTTCCA 0.428 13 53 --- --- --- --- PASS SLC24A2 25769 broad.mit.edu 37 9 19576937 19576937 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:19576937C>A uc003zoa.1 - 5 1275 c.1213G>T c.(1213-1215)GCT>TCT p.A405S SLC24A2_uc003zob.1_Missense_Mutation_p.A388S NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 405 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGGTTGGCAGCCCCATTCTGC 0.537 11 46 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90499950 90499950 + Missense_Mutation SNP A T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:90499950A>T uc004app.3 + 4 583 c.548A>T c.(547-549)GAT>GTT p.D183V C9orf79_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 183 Pro-rich. integral to membrane ovary(3) 3 TGCATGCAAGATCCGTCTCCT 0.627 39 31 --- --- --- --- PASS SEMA4D 10507 broad.mit.edu 37 9 92006320 92006320 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:92006320G>A uc004aqo.1 - 11 1205 c.633C>T c.(631-633)TTC>TTT p.F211F SEMA4D_uc011ltm.1_Silent_p.F211F|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.F209F NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 211 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 CAGCAAACACGAAACTAGGCT 0.557 16 58 --- --- --- --- PASS KIAA1958 158405 broad.mit.edu 37 9 115337436 115337436 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:115337436C>A uc004bgf.1 + 2 1251 c.1076C>A c.(1075-1077)CCC>CAC p.P359H KIAA1958_uc011lwx.1_Missense_Mutation_p.P359H NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 359 skin(1) 1 GCCCTTTCTCCCTCAGTTAAC 0.582 5 102 --- --- --- --- PASS KIF12 113220 broad.mit.edu 37 9 116857503 116857503 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:116857503G>T uc004bif.2 - 7 829 c.591C>A c.(589-591)GTC>GTA p.V197V KIF12_uc004big.2_RNA NM_138424 NP_612433 Q96FN5 KIF12_HUMAN kinesin family member 12 330 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 CCATGAGGGTGACCCCGCGCC 0.647 11 51 --- --- --- --- PASS PHF19 26147 broad.mit.edu 37 9 123629244 123629244 + Splice_Site SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:123629244C>T uc004bks.1 - 7 868 c.615_splice c.e7-1 p.E205_splice PHF19_uc011lyf.1_Splice_Site|PHF19_uc004bkr.2_Splice_Site NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 CAGGTACCATCTGGAGAGACA 0.567 12 25 --- --- --- --- PASS DBH 1621 broad.mit.edu 37 9 136508547 136508547 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr9:136508547G>A uc004cel.2 + 4 766 c.757G>A c.(757-759)GTC>ATC p.V253I NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 253 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CGAGCCCATCGTCACCAAGGG 0.592 15 34 --- --- --- --- PASS UPF2 26019 broad.mit.edu 37 10 11997500 11997500 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr10:11997500G>C uc001ila.2 - 13 3055 c.2581C>G c.(2581-2583)CAA>GAA p.Q861E UPF2_uc001ilb.2_Missense_Mutation_p.Q861E|UPF2_uc001ilc.2_Missense_Mutation_p.Q861E|UPF2_uc009xiz.1_Missense_Mutation_p.Q861E NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 861 Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) AATTTAGGTTGATTAACCTAA 0.343 19 26 --- --- --- --- PASS C1QL3 389941 broad.mit.edu 37 10 16562655 16562655 + Missense_Mutation SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr10:16562655T>A uc001ioj.1 - 1 1350 c.410A>T c.(409-411)CAT>CTT p.H137L NM_001010908 NP_001010908 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 137 C1q. collagen ovary(1) 1 GTAGCCTTCATGCTGCCGCTT 0.582 6 44 --- --- --- --- PASS MRC1 4360 broad.mit.edu 37 10 18112280 18112280 + Missense_Mutation SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr10:18112280T>C uc001ipm.2 + 2 401 c.298T>C c.(298-300)TGG>CGG p.W100R NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 100 Extracellular (Potential).|Ricin B-type lectin. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 ATTTCAGAAATGGGAGTGCAA 0.378 47 34 --- --- --- --- PASS SEC23IP 11196 broad.mit.edu 37 10 121663646 121663646 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr10:121663646G>T uc001leu.1 + 4 1030 c.958G>T c.(958-960)GAT>TAT p.D320Y SEC23IP_uc010qtc.1_Missense_Mutation_p.D109Y NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 320 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) AGGGCGCTACGATGTTTACCT 0.493 3 42 --- --- --- --- PASS ART1 417 broad.mit.edu 37 11 3680845 3680845 + Silent SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:3680845C>G uc001lye.1 + 3 197 c.96C>G c.(94-96)CTC>CTG p.L32L ART1_uc009yeb.1_Silent_p.L32L NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 32 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GACGAGACCTCTTCTCTCAAG 0.602 4 42 --- --- --- --- PASS OR52R1 119695 broad.mit.edu 37 11 4825066 4825066 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:4825066C>A uc010qym.1 - 1 782 c.782G>T c.(781-783)TGT>TTT p.C261F NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CATGTGCTCACAGTATGACTG 0.527 14 75 --- --- --- --- PASS TRIM3 10612 broad.mit.edu 37 11 6471848 6471848 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:6471848G>A uc001mdh.2 - 11 2261 c.1874C>T c.(1873-1875)CCC>CTC p.P625L TRIM3_uc001mdi.2_Missense_Mutation_p.P625L|TRIM3_uc010raj.1_Missense_Mutation_p.P506L|TRIM3_uc009yfd.2_Missense_Mutation_p.P625L|TRIM3_uc010rak.1_Missense_Mutation_p.P625L NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 625 NHL 4. nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACAAAATGGGGCCCTGAAAA 0.483 21 23 --- --- --- --- PASS WEE1 7465 broad.mit.edu 37 11 9608356 9608356 + Missense_Mutation SNP A T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:9608356A>T uc001mhs.2 + 10 1993 c.1740A>T c.(1738-1740)TTA>TTT p.L580F WEE1_uc001mht.2_Missense_Mutation_p.L366F NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 580 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CAGAACAATTACGAATAGAAT 0.353 22 23 --- --- --- --- PASS COPB1 1315 broad.mit.edu 37 11 14490962 14490962 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:14490962C>T uc001mli.2 - 15 2192 c.1885G>A c.(1885-1887)GAC>AAC p.D629N COPB1_uc001mlg.2_Missense_Mutation_p.D629N|COPB1_uc001mlh.2_Missense_Mutation_p.D629N NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 629 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 TTGAAAATGTCATTCATTAAA 0.383 57 100 --- --- --- --- PASS LGR4 55366 broad.mit.edu 37 11 27390143 27390143 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:27390143C>T uc001mrj.3 - 18 2612 c.2127G>A c.(2125-2127)ACG>ACA p.T709T LGR4_uc001mrk.3_Silent_p.T685T NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 709 Helical; Name=5; (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 ATAGCACTAACGTTACAGTGA 0.398 22 87 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48346985 48346985 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:48346985C>G uc010rhv.1 + 1 493 c.493C>G c.(493-495)CTC>GTC p.L165V NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 138 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GACCAGGCATCTCTGTGCCAT 0.532 16 79 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515731 51515731 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:51515731C>T uc010ric.1 + 1 450 c.450C>T c.(448-450)GGC>GGT p.G150G NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGATGGGAGGCTTTCTTCATG 0.458 27 47 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55340086 55340086 + Silent SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:55340086C>A uc010rih.1 + 1 483 c.483C>A c.(481-483)GCC>GCA p.A161A NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) TTTTTCTTGCCCTGAGTTTGC 0.473 12 74 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587702 55587702 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:55587702G>T uc010rin.1 + 1 597 c.597G>T c.(595-597)CTG>CTT p.L199L NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) ACCAGTGGCTGCTATTCTTTC 0.403 4 73 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890545 55890545 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:55890545G>A uc001nii.1 + 1 697 c.697G>A c.(697-699)GGA>AGA p.G233R NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TTCCACTTCAGGAAAGCAGAA 0.398 19 64 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58190360 58190360 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:58190360G>A uc010rkg.1 - 1 375 c.375C>T c.(373-375)TGC>TGT p.C125C NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTAGGGGTTTGCACACTGCTG 0.507 28 38 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60183423 60183423 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:60183423G>A uc001npj.2 + 5 1547 c.982G>A c.(982-984)GAA>AAA p.E328K MS4A14_uc001npi.2_Missense_Mutation_p.E216K|MS4A14_uc001npn.2_Missense_Mutation_p.E66K|MS4A14_uc001npk.2_Missense_Mutation_p.E311K|MS4A14_uc001npl.2_Missense_Mutation_p.E66K|MS4A14_uc001npm.2_Missense_Mutation_p.E66K NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 328 integral to membrane receptor activity breast(1) 1 TCTACCAGTAGAAGGCCTGTC 0.458 12 73 --- --- --- --- PASS CCDC87 55231 broad.mit.edu 37 11 66359641 66359641 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:66359641C>A uc001oiq.3 - 1 914 c.846G>T c.(844-846)CAG>CAT p.Q282H CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 282 ovary(1)|skin(1) 2 GCGACACCATCTGTGAGGAAC 0.572 14 24 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66460763 66460763 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:66460763C>T uc001ojd.2 - 23 4820 c.4748G>A c.(4747-4749)CGA>CAA p.R1583Q NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1583 Spectrin 12. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 ATCCTCCAGTCGCTTCCCTCG 0.637 11 43 --- --- --- --- PASS LRRC32 2615 broad.mit.edu 37 11 76372514 76372514 + Silent SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:76372514G>C uc001oxq.3 - 3 366 c.123C>G c.(121-123)CTC>CTG p.L41L LRRC32_uc001oxr.3_Silent_p.L41L|LRRC32_uc010rsf.1_Silent_p.L41L NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 41 Extracellular (Potential). integral to plasma membrane 0 AGGGGACCTGGAGCAGGCCCA 0.622 5 10 --- --- --- --- PASS CCDC81 60494 broad.mit.edu 37 11 86125862 86125862 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:86125862G>C uc001pbx.1 + 12 1851 c.1423G>C c.(1423-1425)GAT>CAT p.D475H CCDC81_uc001pbw.1_Missense_Mutation_p.D385H|CCDC81_uc010rtq.1_Missense_Mutation_p.D258H|CCDC81_uc001pby.1_Missense_Mutation_p.D210H NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 isoform 1 475 Potential. skin(1) 1 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) ATTTTTAAAAGATAAGATGGA 0.353 9 24 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294666 124294666 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr11:124294666G>T uc010sak.1 - 1 102 c.102C>A c.(100-102)ATC>ATA p.I34I NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAACACATAGATCCCTAAGA 0.458 17 57 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2602441 2602441 + Silent SNP C T T rs112002520 TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:2602441C>T uc009zdu.1 + 7 1315 c.1002C>T c.(1000-1002)CCC>CCT p.P334P CACNA1C_uc009zdv.1_Silent_p.P331P|CACNA1C_uc001qkb.2_Silent_p.P334P|CACNA1C_uc001qkc.2_Silent_p.P334P|CACNA1C_uc001qke.2_Silent_p.P334P|CACNA1C_uc001qkf.2_Silent_p.P334P|CACNA1C_uc001qjz.2_Silent_p.P334P|CACNA1C_uc001qkd.2_Silent_p.P334P|CACNA1C_uc001qkg.2_Silent_p.P334P|CACNA1C_uc009zdw.1_Silent_p.P334P|CACNA1C_uc001qkh.2_Silent_p.P334P|CACNA1C_uc001qkl.2_Silent_p.P334P|CACNA1C_uc001qkn.2_Silent_p.P334P|CACNA1C_uc001qko.2_Silent_p.P334P|CACNA1C_uc001qkp.2_Silent_p.P334P|CACNA1C_uc001qkr.2_Silent_p.P334P|CACNA1C_uc001qku.2_Silent_p.P334P|CACNA1C_uc001qkq.2_Silent_p.P334P|CACNA1C_uc001qks.2_Silent_p.P334P|CACNA1C_uc001qkt.2_Silent_p.P334P|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.P70P|CACNA1C_uc001qkj.1_Silent_p.P70P|CACNA1C_uc001qkk.1_Silent_p.P70P|CACNA1C_uc001qkm.1_Silent_p.P70P NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 334 I.|Extracellular (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) TGTGCAAGCCCGGCTGGGATG 0.602 23 106 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22623791 22623791 + Missense_Mutation SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:22623791T>A uc001rfq.2 - 21 2641 c.2413A>T c.(2413-2415)ACA>TCA p.T805S KIAA0528_uc010sir.1_Missense_Mutation_p.T620S|KIAA0528_uc010sis.1_Missense_Mutation_p.T805S|KIAA0528_uc010sit.1_Missense_Mutation_p.T807S|KIAA0528_uc010siu.1_Missense_Mutation_p.T805S|KIAA0528_uc001rfr.2_Missense_Mutation_p.T796S NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 805 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GGGGTTTTTGTGGTTTGTAAA 0.338 8 26 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 40013001 40013001 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:40013001C>A uc001rmb.2 - 1 843 c.417G>T c.(415-417)AAG>AAT p.K139N NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 139 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 AAGTCCGAGGCTTCTTTTCCA 0.438 11 70 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53819613 53819613 + Silent SNP C T T rs115267458 by1000genomes TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:53819613C>T uc001scx.1 + 6 840 c.762C>T c.(760-762)CAC>CAT p.H254H AMHR2_uc009zmy.1_Silent_p.H254H NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 254 Cytoplasmic (Potential).|Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) GCCTACAGCACGACCACATTG 0.587 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 5 24 --- --- --- --- PASS SHMT2 6472 broad.mit.edu 37 12 57626301 57626301 + Silent SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:57626301C>G uc001snf.1 + 6 670 c.660C>G c.(658-660)CTC>CTG p.L220L SHMT2_uc001sng.1_Silent_p.L116L|SHMT2_uc001snh.1_Silent_p.L59L|SHMT2_uc009zpk.1_Silent_p.L210L|SHMT2_uc001sni.1_Silent_p.L199L|SHMT2_uc010srg.1_Silent_p.L229L|SHMT2_uc001snj.1_Silent_p.L124L|SHMT2_uc010srh.1_Silent_p.L199L|SHMT2_uc001snk.1_Silent_p.L124L|SHMT2_uc010sri.1_Silent_p.L199L|SHMT2_uc001snl.2_Silent_p.L124L|SHMT2_uc010srj.1_5'Flank NM_005412 NP_005403 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 220 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity ovary(1)|central_nervous_system(1) 2 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GGCCACGGCTCATCATAGCTG 0.597 18 87 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58135755 58135755 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:58135755C>G uc001spr.2 - 1 186 c.100G>C c.(100-102)GAG>CAG p.E34Q NM_014770 NP_055585 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-S Error:Variant_position_missing_in_Q99490_after_alignment axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 TCCACCCTCTCTGCCAGCTTC 0.567 15 77 --- --- --- --- PASS HELB 92797 broad.mit.edu 37 12 66700160 66700160 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:66700160C>T uc001sti.2 + 3 671 c.643C>T c.(643-645)CCG>TCG p.P215S HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 215 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) TTTGCAGTTTCCGAAGATAAT 0.348 13 45 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 82147871 82147871 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:82147871G>T uc001szo.1 - 3 291 c.130C>A c.(130-132)CGT>AGT p.R44S PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(3)|lung(2)|pancreas(1) 6 TCTAGAAGACGATCCCTTTCA 0.527 9 35 --- --- --- --- PASS SOCS2 8835 broad.mit.edu 37 12 93968716 93968716 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:93968716G>C uc001tcw.1 + 3 948 c.358G>C c.(358-360)GAC>CAC p.D120H SOCS2_uc001tcx.1_Missense_Mutation_p.D120H|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.D120H|SOCS2_uc001tcz.2_3'UTR NM_003877 NP_003868 O14508 SOCS2_HUMAN suppressor of cytokine signaling-2 120 SH2. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity lung(1) 1 TAAACAATTTGACAGTGTGGT 0.433 4 38 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97087548 97087548 + Nonsense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:97087548C>T uc001tet.1 + 12 1666 c.1588C>T c.(1588-1590)CAA>TAA p.Q530* NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 530 skin(6)|ovary(1) 7 TGGAATTTGTCAAGACATAAC 0.294 8 44 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99478771 99478771 + Silent SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:99478771A>G uc001tge.1 - 16 2974 c.2557T>C c.(2557-2559)TTG>CTG p.L853L ANKS1B_uc001tgf.1_Silent_p.L429L|ANKS1B_uc001tgk.2_Silent_p.L150L|ANKS1B_uc001tgd.1_Silent_p.L79L|ANKS1B_uc001tgi.2_Silent_p.L79L|ANKS1B_uc009ztr.2_Silent_p.L79L|ANKS1B_uc001tgj.2_Silent_p.L79L|ANKS1B_uc001tgg.3_Silent_p.L22L|ANKS1B_uc010svg.1_Silent_p.L48L|ANKS1B_uc009zts.1_Silent_p.L79L|ANKS1B_uc001tgm.1_Silent_p.L79L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 853 SAM 1. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CCAATTTCCAACAAATCCTGA 0.363 3 12 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112632695 112632695 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:112632695G>A uc009zwc.2 - 49 7495 c.7477C>T c.(7477-7479)CTC>TTC p.L2493F NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TTACCTGGGAGAGGAGGTGCG 0.567 4 12 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112632708 112632708 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:112632708G>A uc009zwc.2 - 49 7482 c.7464C>T c.(7462-7464)CTC>CTT p.L2488L NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GAGGTGCGAGGAGCTGATTGG 0.567 6 12 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117665253 117665253 + Missense_Mutation SNP A C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:117665253A>C uc001twm.1 - 23 4285 c.3599T>G c.(3598-3600)GTT>GGT p.V1200G NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1200 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GCGGTAGGAAACGATGGCCAC 0.612 7 18 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130839091 130839091 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:130839091C>A uc001uik.2 + 10 1144 c.1054C>A c.(1054-1056)CAA>AAA p.Q352K PIWIL1_uc001uij.1_Missense_Mutation_p.Q352K NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 352 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCAATACAACCAAGAGATCAC 0.522 5 108 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130935867 130935867 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr12:130935867C>T uc001uil.2 - 5 490 c.326G>A c.(325-327)GGA>GAA p.G109E RIMBP2_uc001uim.2_Missense_Mutation_p.G17E NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 109 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGAGCTGCCTCCAATAGCGCT 0.562 10 9 --- --- --- --- PASS MTRF1 9617 broad.mit.edu 37 13 41828703 41828703 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:41828703G>T uc001uxx.2 - 5 939 c.469C>A c.(469-471)CAA>AAA p.Q157K MTRF1_uc001uxy.2_Missense_Mutation_p.Q157K|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Missense_Mutation_p.Q170K|MTRF1_uc001uyc.1_Missense_Mutation_p.Q157K NM_004294 NP_004285 O75570 RF1M_HUMAN mitochondrial translational release factor 1 157 regulation of translational termination mitochondrion translation release factor activity, codon specific 0 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) TCAATGGTTTGCCTTTCTTCC 0.333 4 23 --- --- --- --- PASS TSC22D1 8848 broad.mit.edu 37 13 45147368 45147368 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:45147368G>T uc001uzn.3 - 1 3334 c.2843C>A c.(2842-2844)GCC>GAC p.A948D TSC22D1_uc001uzo.1_Intron NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 948 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) AGAAGCAGAGGCTGCTAGGCT 0.537 9 25 --- --- --- --- PASS LRCH1 23143 broad.mit.edu 37 13 47275295 47275295 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:47275295G>C uc001vbj.2 + 11 1589 c.1353G>C c.(1351-1353)ATG>ATC p.M451I LRCH1_uc010acp.2_Missense_Mutation_p.M451I|LRCH1_uc001vbk.2_Missense_Mutation_p.M451I|LRCH1_uc001vbl.3_Missense_Mutation_p.M451I NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 451 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) ATATAGCAATGATCGAGCAGC 0.378 8 39 --- --- --- --- PASS KCNRG 283518 broad.mit.edu 37 13 50590025 50590025 + Silent SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:50590025A>G uc001vdu.2 + 1 636 c.396A>G c.(394-396)ACA>ACG p.T132T DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.T132T|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN potassium channel regulator isoform 1 132 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity 0 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) GCAGCAAAACAATTGAGATGC 0.473 47 82 --- --- --- --- PASS RNASEH2B 79621 broad.mit.edu 37 13 51501612 51501612 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:51501612C>T uc001vfa.3 + 2 455 c.134C>T c.(133-135)TCA>TTA p.S45L RNASEH2B_uc001vfb.3_Missense_Mutation_p.S45L NM_024570 NP_078846 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B isoform 1 45 RNA catabolic process nucleus|ribonuclease H2 complex 0 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) AACCCCTGTTCAGGTAAGTTC 0.308 10 49 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70456529 70456529 + Missense_Mutation SNP A T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:70456529A>T uc001vip.2 - 5 1907 c.1113T>A c.(1111-1113)GAT>GAA p.D371E KLHL1_uc010thm.1_Missense_Mutation_p.D310E NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 371 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGGTTTCTTCATCAGGAACAT 0.418 30 35 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 75936518 75936518 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:75936518C>T uc001vjl.1 - 2 1071 c.724G>A c.(724-726)GAG>AAG p.E242K TBC1D4_uc010aer.2_Missense_Mutation_p.E242K|TBC1D4_uc010aes.2_Missense_Mutation_p.E242K NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 242 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CCGCGCTGCTCCCCTTGGATC 0.647 9 42 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101763536 101763536 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr13:101763536C>T uc001vox.1 - 19 2423 c.2234G>A c.(2233-2235)GGG>GAG p.G745E NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 745 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGCGGGCTGCCCCTCAAATGA 0.488 45 48 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20443959 20443959 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:20443959C>T uc010tkx.1 + 1 282 c.282C>T c.(280-282)GAC>GAT p.D94D NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 94 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTTATAGACGTATGTGTTG 0.453 44 42 --- --- --- --- PASS OR4K13 390433 broad.mit.edu 37 14 20502611 20502611 + Missense_Mutation SNP A T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:20502611A>T uc010tkz.1 - 1 307 c.307T>A c.(307-309)TTT>ATT p.F103I NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGGTGCATAAAGAACATCTGG 0.453 49 54 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45668130 45668130 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:45668130G>T uc001wwd.3 + 22 6099 c.6000G>T c.(5998-6000)ATG>ATT p.M2000I FANCM_uc010anf.2_Missense_Mutation_p.M1974I|FANCM_uc001wwe.3_Missense_Mutation_p.M1536I|FANCM_uc010ang.2_Missense_Mutation_p.M1249I NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 2000 Interaction with FAAP24 and EME1. 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 TGAAAAGGATGGCTAACAGGT 0.284 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 11 8 --- --- --- --- PASS RPL10L 140801 broad.mit.edu 37 14 47120363 47120363 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:47120363C>T uc001wwg.2 - 1 666 c.577G>A c.(577-579)GAT>AAT p.D193N NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 193 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 CCACAACCATCAGGGATGAGG 0.517 57 38 --- --- --- --- PASS PELI2 57161 broad.mit.edu 37 14 56757088 56757088 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:56757088C>A uc001xch.2 + 5 896 c.610C>A c.(610-612)CAG>AAG p.Q204K NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 204 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 CGAGGAGTCCCAGCCCGGGGT 0.587 44 72 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102460520 102460520 + Splice_Site SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:102460520G>C uc001yks.2 + 12 3180 c.3016_splice c.e12-1 p.V1006_splice NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TGGTTGGCTAGGTGGGTGTAC 0.403 39 92 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102460647 102460647 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:102460647G>C uc001yks.2 + 12 3306 c.3142G>C c.(3142-3144)GAA>CAA p.E1048Q NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1048 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ATCTGAAGTTGAACAGTATGT 0.398 36 63 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106829997 106829997 + RNA SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr14:106829997G>T uc010tyt.1 - 323 c.12508C>A uc001ysx.1_Intron Parts of antibodies, mostly variable regions. 0 GCTGCCACCAGGAGGAGGAAG 0.502 5 65 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931855 23931855 + Silent SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr15:23931855C>G uc001ywk.2 - 1 596 c.510G>C c.(508-510)GCG>GCC p.A170A NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 170 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGGGCTCCAGCGCTTTGACCA 0.652 Prader-Willi_syndrome 7 16 --- --- --- --- PASS RNF111 54778 broad.mit.edu 37 15 59323210 59323210 + Missense_Mutation SNP A C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr15:59323210A>C uc002afv.2 + 2 468 c.189A>C c.(187-189)GAA>GAC p.E63D RNF111_uc002afs.2_Missense_Mutation_p.E63D|RNF111_uc002aft.2_Missense_Mutation_p.E63D|RNF111_uc002afu.2_Missense_Mutation_p.E63D|RNF111_uc002afw.2_Missense_Mutation_p.E63D NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 63 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) TGGGGAATGAATTCTCTCACC 0.418 5 48 --- --- --- --- PASS KIF23 9493 broad.mit.edu 37 15 69715541 69715541 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr15:69715541G>C uc002asb.2 + 7 724 c.607G>C c.(607-609)GAA>CAA p.E203Q KIF23_uc002asc.2_Missense_Mutation_p.E203Q|KIF23_uc010bii.2_Missense_Mutation_p.E93Q|KIF23_uc010ukc.1_Missense_Mutation_p.E6Q|KIF23_uc010bih.1_RNA NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 203 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 AACTGTACAAGAATTCTGCAA 0.284 29 60 --- --- --- --- PASS BBS4 585 broad.mit.edu 37 15 73028217 73028217 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr15:73028217C>T uc002avb.2 + 14 1201 c.1158C>T c.(1156-1158)GGC>GGT p.G386G BBS4_uc010ukv.1_Silent_p.G374G|BBS4_uc002avc.2_Silent_p.G214G|BBS4_uc002avd.2_Silent_p.G394G NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 386 TPR 10.|Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 ACAACCAGGGCGAGAAGAAGA 0.483 Bardet-Biedl_syndrome 11 129 --- --- --- --- PASS KIAA0430 9665 broad.mit.edu 37 16 15730188 15730188 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr16:15730188C>A uc002ddr.2 - 3 349 c.156G>T c.(154-156)ATG>ATT p.M52I KIAA0430_uc002ddq.2_Missense_Mutation_p.M51I|KIAA0430_uc010uzv.1_Missense_Mutation_p.M51I|KIAA0430_uc010uzw.1_Missense_Mutation_p.M51I|KIAA0430_uc010uzx.1_Missense_Mutation_p.M51I NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 51 peroxisome nucleotide binding|RNA binding 0 TCTTGTTCTCCATGTACTCTT 0.388 4 64 --- --- --- --- PASS GTF3C1 2975 broad.mit.edu 37 16 27495561 27495561 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr16:27495561G>A uc002dov.1 - 25 4012 c.3972C>T c.(3970-3972)GTC>GTT p.V1324V GTF3C1_uc002dou.2_Silent_p.V1324V NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1324 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GTGGGTTTTTGACTATGTAGC 0.488 22 67 --- --- --- --- PASS RNF40 9810 broad.mit.edu 37 16 30773931 30773931 + Missense_Mutation SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr16:30773931T>C uc002dzq.2 + 2 188 c.65T>C c.(64-66)CTG>CCG p.L22P C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.L22P|RNF40_uc010cab.2_Missense_Mutation_p.L22P|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L22P|RNF40_uc010vfb.1_Missense_Mutation_p.L22P NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 22 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) GAAAAGAAGCTGAGTCGTGAG 0.632 3 25 --- --- --- --- PASS ATP2C2 9914 broad.mit.edu 37 16 84492924 84492924 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr16:84492924G>T uc002fhx.2 + 23 2354 c.2265G>T c.(2263-2265)CTG>CTT p.L755L ATP2C2_uc010chj.2_Silent_p.L755L|ATP2C2_uc002fhy.2_Silent_p.L772L|ATP2C2_uc002fhz.2_Silent_p.L604L|ATP2C2_uc002fia.2_5'Flank NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 755 Helical; Name=6; (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 TGTTCAACCTGCCCAGCCCCC 0.647 15 35 --- --- --- --- PASS IL17C 27189 broad.mit.edu 37 16 88705514 88705514 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr16:88705514C>T uc002fla.2 + 2 181 c.132C>T c.(130-132)CTC>CTT p.L44L NM_013278 NP_037410 Q9P0M4 IL17C_HUMAN interleukin 17C precursor 44 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) AACTGCCCCTCGGCCAGGCCC 0.687 23 17 --- --- --- --- PASS RPL13 6137 broad.mit.edu 37 16 89628749 89628749 + Missense_Mutation SNP G A A rs140485395 TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr16:89628749G>A uc002fnm.1 + 5 478 c.427G>A c.(427-429)GAA>AAA p.E143K RPL13_uc010vpj.1_Missense_Mutation_p.E96K|RPL13_uc002fnn.1_Missense_Mutation_p.E143K|RPL13_uc002fno.1_3'UTR NM_000977 NP_000968 P26373 RL13_HUMAN ribosomal protein L13 143 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic ribosome protein binding|RNA binding|structural constituent of ribosome 0 all_hematologic(23;0.0748) all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139) ACAGGCTGAAGAACTGAAACT 0.562 22 14 --- --- --- --- PASS OR1E2 8388 broad.mit.edu 37 17 3336248 3336248 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:3336248G>T uc010vre.1 - 1 888 c.888C>A c.(886-888)CCC>CCA p.P296P NM_003554 NP_003545 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, 296 Helical; Name=7; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity large_intestine(1) 1 TGTAGATGAAGGGGGTCAGCA 0.458 39 33 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5048769 5048769 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:5048769C>G uc002gau.1 + 27 4292 c.2062C>G c.(2062-2064)CAA>GAA p.Q688E USP6_uc002gav.1_Missense_Mutation_p.Q688E|USP6_uc010ckz.1_Missense_Mutation_p.Q371E NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 688 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 GCTAAGATCTCAAGTCAAATG 0.378 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 28 35 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577092 7577092 + Silent SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:7577092C>G uc002gim.2 - 8 1040 c.846G>C c.(844-846)CGG>CGC p.R282R TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.R282R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.R150R|TP53_uc010cng.1_Silent_p.R150R|TP53_uc002gii.1_Silent_p.R150R|TP53_uc010cnh.1_Silent_p.R282R|TP53_uc010cni.1_Silent_p.R282R|TP53_uc002gij.2_Silent_p.R282R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (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.R282W(365)|p.R282G(26)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.R283fs*63(2)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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) CCTCTGTGCGCCGGTCTCTCC 0.557 111 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) 8 14 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577093 7577093 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:7577093C>T uc002gim.2 - 8 1039 c.845G>A c.(844-846)CGG>CAG p.R282Q TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150Q|TP53_uc010cng.1_Missense_Mutation_p.R150Q|TP53_uc002gii.1_Missense_Mutation_p.R150Q|TP53_uc010cnh.1_Missense_Mutation_p.R282Q|TP53_uc010cni.1_Missense_Mutation_p.R282Q|TP53_uc002gij.2_Missense_Mutation_p.R282Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (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.R282W(365)|p.R282G(26)|p.R282Q(21)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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) CTCTGTGCGCCGGTCTCTCCC 0.557 111 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) 7 14 --- --- --- --- PASS PIGS 94005 broad.mit.edu 37 17 26885558 26885558 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:26885558G>A uc002hbo.2 - 8 1243 c.870C>T c.(868-870)TCC>TCT p.S290S PIGS_uc002hbn.2_Silent_p.S282S|PIGS_uc010wap.1_Silent_p.S229S NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 290 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) AGTAGCTGGAGGAAGCTGAGT 0.458 5 24 --- --- --- --- PASS RASL10B 91608 broad.mit.edu 37 17 34068269 34068269 + Missense_Mutation SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:34068269A>G uc002hju.2 + 4 923 c.557A>G c.(556-558)CAC>CGC p.H186R NM_033315 NP_201572 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B precursor 186 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity lung(2)|breast(2) 4 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAGCACGTGCACGCTGCCCTG 0.692 5 10 --- --- --- --- PASS DUSP14 11072 broad.mit.edu 37 17 35872857 35872857 + Silent SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:35872857C>T uc002hnx.2 + 3 777 c.483C>T c.(481-483)TAC>TAT p.Y161Y DUSP14_uc002hny.2_Silent_p.Y148Y|DUSP14_uc002hnz.2_Silent_p.Y148Y NM_007026 NP_008957 O95147 DUS14_HUMAN dual specificity phosphatase 14 161 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Breast(25;0.00637)|Ovarian(249;0.15) TGATAGACTACGAGCGCCAGC 0.537 15 44 --- --- --- --- PASS WNK4 65266 broad.mit.edu 37 17 40948204 40948204 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:40948204C>A uc002ibj.2 + 17 3516 c.3495C>A c.(3493-3495)AGC>AGA p.S1165R WNK4_uc010wgx.1_Missense_Mutation_p.S829R|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1165 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) ATTTGTACAGCCGGCTGGGGA 0.592 11 50 --- --- --- --- PASS HDAC5 10014 broad.mit.edu 37 17 42162413 42162413 + Missense_Mutation SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:42162413T>C uc002ifd.1 - 15 2372 c.2161A>G c.(2161-2163)ACA>GCA p.T721A HDAC5_uc002ife.1_Missense_Mutation_p.T721A|HDAC5_uc002iff.1_Missense_Mutation_p.T722A|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.T31A|HDAC5_uc002ifh.2_Missense_Mutation_p.T721A NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 721 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) AGCAGGCCTGTCTCCTGCAGC 0.552 14 40 --- --- --- --- PASS MRPL10 124995 broad.mit.edu 37 17 45901685 45901685 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:45901685G>T uc002ilz.2 - 5 698 c.672C>A c.(670-672)CAC>CAA p.H224Q OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Missense_Mutation_p.H185Q|MRPL10_uc002ily.2_Missense_Mutation_p.H234Q NM_145255 NP_660298 Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 precursor 224 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome ovary(1) 1 GGAGGGGCTGGTGCTGGAGCA 0.602 5 32 --- --- --- --- PASS CDK5RAP3 80279 broad.mit.edu 37 17 46056209 46056209 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:46056209G>T uc002imr.2 + 11 1087 c.1003G>T c.(1003-1005)GCC>TCC p.A335S CDK5RAP3_uc010wlc.1_Missense_Mutation_p.A355S|CDK5RAP3_uc002imq.1_Missense_Mutation_p.A110S|CDK5RAP3_uc002imu.2_Missense_Mutation_p.A179S|CDK5RAP3_uc002ims.2_Missense_Mutation_p.A248S|CDK5RAP3_uc002imv.2_Missense_Mutation_p.A179S|CDK5RAP3_uc002imw.2_Missense_Mutation_p.A177S|CDK5RAP3_uc002imx.2_Missense_Mutation_p.A110S NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 335 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding 0 AGAAGGTGTTGCCAGGGGCCC 0.517 OREG0024508 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 46 --- --- --- --- PASS UBE2Z 65264 broad.mit.edu 37 17 47004450 47004450 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:47004450G>T uc002ioi.2 + 7 1118 c.1019G>T c.(1018-1020)AGT>ATT p.S340I NM_023079 NP_075567 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z 340 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity 0 TCTGATAGCAGTTCATCTGGG 0.532 23 28 --- --- --- --- PASS MPO 4353 broad.mit.edu 37 17 56348128 56348128 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:56348128G>A uc002ivu.1 - 12 2304 c.2127C>T c.(2125-2127)ATC>ATT p.I709I NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 709 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) ACACGGTGGTGATGCCTGTGT 0.547 13 22 --- --- --- --- PASS NOL11 25926 broad.mit.edu 37 17 65720260 65720260 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:65720260G>C uc002jgd.1 + 6 618 c.615G>C c.(613-615)AAG>AAC p.K205N NOL11_uc010wql.1_Missense_Mutation_p.K23N|NOL11_uc010deu.1_5'UTR NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 205 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) CTGTTATAAAGAGTTTTACTG 0.313 13 43 --- --- --- --- PASS NARF 26502 broad.mit.edu 37 17 80442724 80442724 + Missense_Mutation SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:80442724A>G uc002kfg.3 + 9 1009 c.869A>G c.(868-870)CAT>CGT p.H290R NARF_uc002kff.3_Missense_Mutation_p.H231R|NARF_uc010wvp.1_3'UTR|NARF_uc010dit.2_Missense_Mutation_p.H336R|NARF_uc002kfj.3_Missense_Mutation_p.H242R|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.H336R|NARF_uc002kfk.2_RNA NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 290 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GTGACGCGTCATGATGGAGCC 0.517 25 23 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31324466 31324466 + Silent SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr18:31324466T>C uc010dmg.1 + 12 4709 c.4654T>C c.(4654-4656)TTG>CTG p.L1552L ASXL3_uc002kxq.2_Silent_p.L1259L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CAGTAAAACATTGCCGGCCAC 0.493 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 24 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43219767 43219767 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr18:43219767G>T uc010dnj.2 + 8 1221 c.900G>T c.(898-900)TGG>TGT p.W300C SLC14A2_uc002lbb.2_Missense_Mutation_p.W300C|SLC14A2_uc002lbe.2_Missense_Mutation_p.W300C NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 300 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 ACAATCCCTGGACAGGCGGCG 0.547 10 65 --- --- --- --- PASS PIAS2 9063 broad.mit.edu 37 18 44470757 44470757 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr18:44470757G>A uc002lck.2 - 2 443 c.285C>T c.(283-285)GAC>GAT p.D95D PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Silent_p.D95D|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Silent_p.D95D|PIAS2_uc002lcn.1_Silent_p.D99D NM_004671 NP_004662 O75928 PIAS2_HUMAN protein inhibitor of activated STAT X isoform 95 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding ovary(2)|breast(1)|skin(1) 4 CCACGGCCAAGTCAGGTTCTA 0.483 14 25 --- --- --- --- PASS CCBE1 147372 broad.mit.edu 37 18 57103325 57103325 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr18:57103325G>A uc002lib.2 - 11 1106 c.1036C>T c.(1036-1038)CGC>TGC p.R346C CCBE1_uc010dpq.2_Missense_Mutation_p.R75C|CCBE1_uc002lia.2_Missense_Mutation_p.R199C NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 346 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) ATGTCATTGCGGATGTCAGCC 0.522 32 103 --- --- --- --- PASS ZNF554 115196 broad.mit.edu 37 19 2834406 2834406 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:2834406G>C uc002lwm.2 + 5 1371 c.1173G>C c.(1171-1173)AGG>AGC p.R391S ZNF554_uc002lwl.2_Missense_Mutation_p.R340S NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 391 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTCAACAGGATCTCATCGC 0.542 11 44 --- --- --- --- PASS LRG1 116844 broad.mit.edu 37 19 4538952 4538952 + Missense_Mutation SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:4538952A>G uc002mau.2 - 2 55 c.44T>C c.(43-45)ATT>ACT p.I15T PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 15 extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) ATGGGGTTGAATGCCCCCTGG 0.468 21 42 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9091636 9091636 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:9091636G>A uc002mkp.2 - 1 383 c.179C>T c.(178-180)CCA>CTA p.P60L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 60 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 GGTCTTATCTGGGGAAGTAAA 0.512 48 38 --- --- --- --- PASS ZNF562 54811 broad.mit.edu 37 19 9763810 9763810 + Missense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:9763810G>C uc010xks.1 - 6 1259 c.1096C>G c.(1096-1098)CAC>GAC p.H366D ZNF562_uc002mly.2_Missense_Mutation_p.H366D|ZNF562_uc002mlx.2_Missense_Mutation_p.H294D|ZNF562_uc010xkt.1_Missense_Mutation_p.H329D|ZNF562_uc010xku.1_Missense_Mutation_p.H297D|ZNF562_uc010xkv.1_Missense_Mutation_p.H365D|ZNF562_uc010xkw.1_Missense_Mutation_p.H250D NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 366 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCCAGTGTGATTTCGTATG 0.428 16 73 --- --- --- --- PASS ZNF562 54811 broad.mit.edu 37 19 9763923 9763923 + Nonsense_Mutation SNP G C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:9763923G>C uc010xks.1 - 6 1146 c.983C>G c.(982-984)TCA>TGA p.S328* ZNF562_uc002mly.2_Nonsense_Mutation_p.S328*|ZNF562_uc002mlx.2_Nonsense_Mutation_p.S256*|ZNF562_uc010xkt.1_Nonsense_Mutation_p.S291*|ZNF562_uc010xku.1_Nonsense_Mutation_p.S259*|ZNF562_uc010xkv.1_Nonsense_Mutation_p.S327*|ZNF562_uc010xkw.1_Nonsense_Mutation_p.S212* NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 328 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGGTGAGTTGATCTAGTGAA 0.398 18 74 --- --- --- --- PASS ZNF20 7568 broad.mit.edu 37 19 12243726 12243726 + Silent SNP A G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:12243726A>G uc002mtf.1 - 4 1418 c.1275T>C c.(1273-1275)TGT>TGC p.C425C ZNF20_uc002mte.1_Silent_p.C390C|ZNF20_uc002mtg.1_Silent_p.C425C NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 425 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACATTGCTTACATTCATGGG 0.403 24 43 --- --- --- --- PASS ZNF100 163227 broad.mit.edu 37 19 21910559 21910559 + Silent SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:21910559G>T uc002nqi.2 - 5 754 c.555C>A c.(553-555)GTC>GTA p.V185V ZNF100_uc002nqh.2_Silent_p.V121V NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 185 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGTATGAAAGACTTTTGCAG 0.303 8 95 --- --- --- --- PASS LSR 51599 broad.mit.edu 37 19 35757275 35757275 + Silent SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:35757275C>A uc002nyl.2 + 6 1159 c.936C>A c.(934-936)GGC>GGA p.G312G LSR_uc002nym.2_Silent_p.G293G|LSR_uc002nyn.2_Silent_p.G244G|LSR_uc002nyo.2_Silent_p.G293G|LSR_uc010xsr.1_Silent_p.G204G|LSR_uc002nyp.2_Silent_p.G275G|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 312 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) ATGCCGCCGGCAAAGCAGCCA 0.617 4 73 --- --- --- --- PASS ZNF473 25888 broad.mit.edu 37 19 50550136 50550136 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:50550136G>A uc002prn.2 + 5 2673 c.2436G>A c.(2434-2436)AAG>AAA p.K812K ZNF473_uc002prm.2_Silent_p.K812K|ZNF473_uc010ybo.1_Silent_p.K800K NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 812 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CAGGGGAGAAGCCTTACTCCT 0.493 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 46 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086982 55086982 + Missense_Mutation SNP G T T rs143337690 TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:55086982G>T uc002qgg.3 + 5 1004 c.915G>T c.(913-915)TGG>TGT p.W305C LILRA2_uc010ern.2_Missense_Mutation_p.W305C|LILRA2_uc002qgf.2_Missense_Mutation_p.W305C|LILRA2_uc010yfe.1_Missense_Mutation_p.W305C|LILRA2_uc010yff.1_Missense_Mutation_p.W293C|LILRA2_uc010ero.2_Missense_Mutation_p.W293C|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 305 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CCTCCGAGTGGTCGGCCCCCA 0.672 4 55 --- --- --- --- PASS KIR2DL3 3804 broad.mit.edu 37 19 55255266 55255266 + Missense_Mutation SNP T G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr19:55255266T>G uc002qgv.2 + 4 412 c.394T>G c.(394-396)TCA>GCA p.S132A KIR2DL3_uc002qgx.2_Missense_Mutation_p.S132A|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_Missense_Mutation_p.S132A|KIR2DL1_uc002qgz.1_Missense_Mutation_p.S42A|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 132 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) ACCTTCTCTCTCAGCCCAGCC 0.562 41 21 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8707972 8707972 + Silent SNP T C C TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr20:8707972T>C uc002wnb.2 + 17 1698 c.1695T>C c.(1693-1695)TTT>TTC p.F565F PLCB1_uc010zrb.1_Silent_p.F464F|PLCB1_uc002wna.2_Silent_p.F565F|PLCB1_uc002wnc.1_Silent_p.F464F|PLCB1_uc002wnd.1_Silent_p.F142F NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 565 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 ATAAAAGTTTTGAAATGTCTT 0.328 5 37 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33572514 33572514 + Missense_Mutation SNP C T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr20:33572514C>T uc002xbi.1 + 9 862 c.770C>T c.(769-771)ACG>ATG p.T257M NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 215 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCAACAAAGACGGGGGTGAGT 0.647 6 33 --- --- --- --- PASS UQCC 55245 broad.mit.edu 37 20 33894581 33894581 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr20:33894581C>A uc002xcd.2 - 9 720 c.653G>T c.(652-654)GGG>GTG p.G218V UQCC_uc010zuy.1_Missense_Mutation_p.G119V|UQCC_uc010zuz.1_Missense_Mutation_p.G63V|UQCC_uc010zva.1_Missense_Mutation_p.G81V|UQCC_uc002xce.2_Missense_Mutation_p.G191V|UQCC_uc002xcg.2_Missense_Mutation_p.G84V|UQCC_uc010gfb.2_Missense_Mutation_p.G192V|UQCC_uc010zvb.1_Missense_Mutation_p.G150V|UQCC_uc002xcf.2_Missense_Mutation_p.G106V|UQCC_uc002xch.2_5'Flank|UQCC_uc002xcc.2_Missense_Mutation_p.G31V NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 218 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGAAAGGATCCCCTGGAACAT 0.522 OREG0025889 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 --- --- --- --- PASS SERINC3 10955 broad.mit.edu 37 20 43129878 43129878 + Silent SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr20:43129878G>A uc002xme.2 - 9 1253 c.1119C>T c.(1117-1119)ATC>ATT p.I373I SERINC3_uc002xmf.1_Silent_p.I373I|SERINC3_uc010ggs.1_Silent_p.I366I|SERINC3_uc010zwp.1_Silent_p.I318I NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 373 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) TATCACCAAGGATGACGCTGT 0.517 15 35 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34927341 34927341 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr21:34927341G>A uc002yse.1 + 3 5853 c.5804G>A c.(5803-5805)AGT>AAT p.S1935N SON_uc002ysb.1_Missense_Mutation_p.S1935N|SON_uc002ysc.2_Missense_Mutation_p.S1935N|SON_uc002ysd.2_Missense_Mutation_p.S926N|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S926N NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1935 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|3-1.|7 X 7 AA repeats of P-S-R-R-S-R-[TS]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 CATACTCCAAGTCGTCGACGA 0.373 7 51 --- --- --- --- PASS SETD4 54093 broad.mit.edu 37 21 37408483 37408483 + Missense_Mutation SNP T A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr21:37408483T>A uc002yuw.1 - 10 2628 c.1255A>T c.(1255-1257)ACG>TCG p.T419S SETD4_uc002yux.1_Missense_Mutation_p.T395S|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.T419S NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN SET domain containing 4 isoform a 419 EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). large_intestine(1)|ovary(1) 2 AGCTCTTCCGTCCACAAGGAT 0.408 41 63 --- --- --- --- PASS FAM3B 54097 broad.mit.edu 37 21 42720533 42720533 + Missense_Mutation SNP C G G TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr21:42720533C>G uc002yzb.1 + 7 646 c.500C>G c.(499-501)GCC>GGC p.A167G FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Missense_Mutation_p.A119G|FAM3B_uc002yzd.1_Missense_Mutation_p.A190G NM_058186 NP_478066 P58499 FAM3B_HUMAN family with sequence similarity 3, member B 167 apoptosis|insulin secretion extracellular space cytokine activity 0 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) AATAACGATGCCAAGAATGCC 0.468 8 36 --- --- --- --- PASS XRCC6 2547 broad.mit.edu 37 22 42032651 42032651 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr22:42032651G>A uc003bao.1 + 5 536 c.466G>A c.(466-468)GAT>AAT p.D156N XRCC6_uc003bap.1_Missense_Mutation_p.D115N|XRCC6_uc011apc.1_Missense_Mutation_p.D106N|XRCC6_uc003baq.1_Missense_Mutation_p.D156N|XRCC6_uc003bar.1_Missense_Mutation_p.D156N|XRCC6_uc003bas.1_Missense_Mutation_p.D106N NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 156 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 CCTCTTTAGTGATGTCCAATT 0.507 Direct_reversal_of_damage|NHEJ 7 64 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3248704 3248704 + Missense_Mutation SNP C A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chrX:3248704C>A uc004crg.3 - 3 456 c.299G>T c.(298-300)AGA>ATA p.R100I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 100 LRR 2. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCTGAGGTCTCTTAAAGCTCC 0.438 4 45 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84526736 84526736 + Missense_Mutation SNP G A A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chrX:84526736G>A uc004eeo.2 + 9 2535 c.2188G>A c.(2188-2190)GAC>AAC p.D730N ZNF711_uc004eep.2_Missense_Mutation_p.D730N|ZNF711_uc004eeq.2_Missense_Mutation_p.D776N|ZNF711_uc011mqy.1_Missense_Mutation_p.D329N NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 730 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 ACATACAAAAGACTATCCACA 0.388 5 56 --- --- --- --- PASS ALG13 79868 broad.mit.edu 37 X 110970887 110970887 + Missense_Mutation SNP G T T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chrX:110970887G>T uc011msy.1 + 18 2170 c.2136G>T c.(2134-2136)GAG>GAT p.E712D ALG13_uc011msx.1_Missense_Mutation_p.E608D|ALG13_uc011msz.1_Missense_Mutation_p.E634D|ALG13_uc011mta.1_Missense_Mutation_p.E608D|ALG13_uc011mtb.1_Missense_Mutation_p.E608D Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 712 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 TGAATAAGGAGTCCCAGTATG 0.383 22 9 --- --- --- --- PASS FAM38A 9780 broad.mit.edu 37 16 88787608 88787610 + In_Frame_Del DEL CTT - - rs3217718 TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr16:88787608_88787610delCTT uc010vpb.1 - 39 5635_5637 c.5632_5634delAAG c.(5632-5634)AAGdel p.K1878del FAM38A_uc002flp.3_5'Flank|FAM38A_uc002flq.3_5'Flank|FAM38A_uc002flr.3_In_Frame_Del_p.K1446del|FAM38A_uc010cib.2_In_Frame_Del_p.K741del NM_001142864 NP_001136336 Q92508 PIEZ1_HUMAN family with sequence similarity 38, member A 1878 endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane ion channel activity 0 CTGGGCCCTCCTTCTTCCTTCTT 0.616 2 7 --- --- --- --- PPM1E 22843 broad.mit.edu 37 17 56833644 56833646 + In_Frame_Del DEL GAG - - TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx ad0365d1-10b1-41e6-b838-9c5794b9ad42 f060d74c-e8d1-4498-b733-232465202974 g.chr17:56833644_56833646delGAG uc002iwx.2 + 1 413_415 c.286_288delGAG c.(286-288)GAGdel p.E100del PPM1E_uc010ddd.2_5'UTR NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 100 Glu-rich.|Pro-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ggttgagggtgaggaggaggagg 0.325 3 3 --- --- --- ---