Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter TMEM51 55092 broad.mit.edu 37 1 15541865 15541865 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:15541865C>T uc001avw.3 + 3 801 c.282C>T c.(280-282)GGC>GGT p.G94G TMEM51_uc010obk.1_Silent_p.G94G|TMEM51_uc001avz.2_Silent_p.G94G|TMEM51_uc001avy.2_Silent_p.G94G|TMEM51_uc001avx.2_Silent_p.G94G NM_001136216 NP_001129688 Q9NW97 TMM51_HUMAN transmembrane protein 51 94 integral to membrane 0 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) AGCGGCAGGGCGAGGACCTGG 0.652 15 17 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19454211 19454211 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:19454211C>T uc001bbi.2 - 63 9138 c.9134G>A c.(9133-9135)CGC>CAC p.R3045H UBR4_uc001bbk.1_Missense_Mutation_p.R692H NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3045 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGGGCGCTGCGCTCATTCTT 0.478 6 155 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19478225 19478225 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:19478225C>A uc001bbi.2 - 48 7129 c.7125G>T c.(7123-7125)ATG>ATT p.M2375I UBR4_uc001bbk.1_Missense_Mutation_p.M29I|UBR4_uc001bbl.1_Missense_Mutation_p.M312I|UBR4_uc001bbm.1_Missense_Mutation_p.M1587I NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2375 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTTGAGCTGCATAGTTCTGC 0.507 71 113 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19478226 19478226 + Missense_Mutation SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:19478226A>T uc001bbi.2 - 48 7128 c.7124T>A c.(7123-7125)ATG>AAG p.M2375K UBR4_uc001bbk.1_Missense_Mutation_p.M29K|UBR4_uc001bbl.1_Missense_Mutation_p.M312K|UBR4_uc001bbm.1_Missense_Mutation_p.M1587K NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2375 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GTTGAGCTGCATAGTTCTGCC 0.507 71 114 --- --- --- --- PASS KDM1A 23028 broad.mit.edu 37 1 23397826 23397826 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:23397826C>G uc001bgi.2 + 11 1599 c.1450C>G c.(1450-1452)CAC>GAC p.H484D KDM1A_uc001bgj.2_Missense_Mutation_p.H508D NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 484 Potential.|Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|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 transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 GAAAAGCAAACACAGGGATCT 0.403 64 120 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62483535 62483535 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:62483535A>G uc001dab.2 + 29 3989 c.3875A>G c.(3874-3876)AAT>AGT p.N1292S INADL_uc009waf.1_Missense_Mutation_p.N1292S|INADL_uc001daa.2_Missense_Mutation_p.N1292S|INADL_uc001dad.3_Missense_Mutation_p.N989S|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.N76S|INADL_uc009wag.2_Missense_Mutation_p.N76S|INADL_uc010oou.1_Intron NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1292 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 CAGATAAACAATCAGATTCTG 0.333 64 103 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70225900 70225900 + Missense_Mutation SNP C T T rs150507629 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:70225900C>T uc001dep.2 + 1 43 c.13C>T c.(13-15)CGG>TGG p.R5W LRRC7_uc001deo.1_Missense_Mutation_p.R43W|LRRC7_uc009wbg.2_Translation_Start_Site NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 5 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GACCACCAAACGGAAAATCAT 0.438 9 63 --- --- --- --- PASS SFRS11 9295 broad.mit.edu 37 1 70716350 70716350 + Silent SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:70716350A>G uc001des.2 + 13 1441 c.1317A>G c.(1315-1317)AAA>AAG p.K439K SFRS11_uc001det.2_Silent_p.K438K|SFRS11_uc001dev.2_Silent_p.K249K|SFRS11_uc001dew.2_Silent_p.K379K NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 439 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 AAGAGAAAAAAGAAGAGAAGA 0.393 21 49 --- --- --- --- PASS ZNF644 84146 broad.mit.edu 37 1 91405548 91405548 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:91405548G>A uc001dnw.2 - 3 1505 c.1363C>T c.(1363-1365)CGG>TGG p.R455W ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.R455W NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 455 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) CGAAATGTCCGTCCACATTCT 0.403 10 231 --- --- --- --- PASS ARHGAP29 9411 broad.mit.edu 37 1 94685819 94685819 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:94685819A>G uc001dqj.3 - 3 704 c.335T>C c.(334-336)GTG>GCG p.V112A ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.V112A NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 112 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CTTACCTTTCACTTTTGCAGT 0.368 107 152 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103474062 103474062 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:103474062C>A uc001dul.2 - 15 1958 c.1640G>T c.(1639-1641)GGT>GTT p.G547V COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G559V|COL11A1_uc001dun.2_Missense_Mutation_p.G508V|COL11A1_uc009weh.2_Missense_Mutation_p.G431V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 547 Triple-helical region. 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) CCCAGATGAACCAGGCCCCCC 0.299 58 56 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114354481 114354481 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:114354481T>C uc001edq.2 - 1 590 c.554A>G c.(553-555)CAT>CGT p.H185R RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 185 His-rich. nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGCCCTTATGCTTGGGCCC 0.682 19 26 --- --- --- --- PASS IGSF3 3321 broad.mit.edu 37 1 117150571 117150571 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:117150571G>T uc001egr.1 - 5 1920 c.1215C>A c.(1213-1215)CTC>CTA p.L405L IGSF3_uc001egq.1_Silent_p.L405L|IGSF3_uc001egs.1_Silent_p.L78L NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 405 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TACTGAGGGGGAGGACTATGA 0.517 15 192 --- --- --- --- PASS HORMAD1 84072 broad.mit.edu 37 1 150680777 150680777 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:150680777G>T uc001evk.1 - 9 608 c.502C>A c.(502-504)CCT>ACT p.P168T HORMAD1_uc001evl.1_Missense_Mutation_p.P161T|HORMAD1_uc001evm.1_Missense_Mutation_p.P88T NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 168 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) ACATCATTAGGTAAAGGCCCC 0.353 8 103 --- --- --- --- PASS SEMA6C 10500 broad.mit.edu 37 1 151109537 151109537 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:151109537C>A uc001ewu.2 - 11 1070 c.770G>T c.(769-771)CGC>CTC p.R257L SEMA6C_uc001ewv.2_Missense_Mutation_p.R257L|SEMA6C_uc001eww.2_Missense_Mutation_p.R217L|SEMA6C_uc010pcq.1_Missense_Mutation_p.R257L|SEMA6C_uc009wml.1_RNA NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 257 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCGGGCTACGCGGGAGAACTG 0.582 31 103 --- --- --- --- PASS HSD17B7 51478 broad.mit.edu 37 1 162774108 162774108 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:162774108G>A uc001gci.2 + 7 894 c.799G>A c.(799-801)GCT>ACT p.A267T HSD17B7_uc009wuv.2_RNA NM_016371 NP_057455 P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 267 Cytoplasmic (Potential). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity ovary(1) 1 all_hematologic(112;0.115) NADH(DB00157) TGGAACAGAAGCTCTGGTATG 0.333 36 60 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097199 167097199 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:167097199C>A uc001geb.1 + 5 2831 c.2831C>A c.(2830-2832)ACG>AAG p.T944K NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 944 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GGCCTCAGGACGGAGGAAAAA 0.507 9 36 --- --- --- --- PASS C1orf25 81627 broad.mit.edu 37 1 185125643 185125643 + Missense_Mutation SNP A C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:185125643A>C uc001grf.3 - 1 474 c.202T>G c.(202-204)TCC>GCC p.S68A C1orf26_uc001grg.3_5'Flank|C1orf26_uc001grh.3_5'Flank|C1orf25_uc010pon.1_Intron NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 68 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 gaggctagggacggggacagg 0.219 24 23 --- --- --- --- PASS C1orf26 54823 broad.mit.edu 37 1 185153960 185153960 + Silent SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:185153960C>G uc001grg.3 + 9 1440 c.1326C>G c.(1324-1326)GCC>GCG p.A442A C1orf26_uc001grh.3_Silent_p.A442A NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 442 PINc. 0 TAAAACGTGCCCAGCACAAAG 0.378 71 84 --- --- --- --- PASS NAV1 89796 broad.mit.edu 37 1 201752839 201752839 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:201752839T>A uc001gwu.2 + 7 3010 c.2663T>A c.(2662-2664)CTC>CAC p.L888H NAV1_uc001gwv.1_Missense_Mutation_p.L396H|NAV1_uc001gww.1_Missense_Mutation_p.L497H|NAV1_uc001gwx.2_Missense_Mutation_p.L497H|NAV1_uc001gwy.1_Missense_Mutation_p.L269H NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 888 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 ATGGAGTCCCTCCAGATGCCA 0.602 26 90 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207646387 207646387 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:207646387C>T uc001hfw.2 + 10 1935 c.1841C>T c.(1840-1842)TCT>TTT p.S614F CR2_uc001hfv.2_Missense_Mutation_p.S614F|CR2_uc009xch.2_Missense_Mutation_p.S614F|CR2_uc009xci.1_Missense_Mutation_p.S99F NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 614 Sushi 10.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TACAAGATATCTGGCAAGGAA 0.453 34 108 --- --- --- --- PASS LIN9 286826 broad.mit.edu 37 1 226475435 226475435 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:226475435G>A uc001hqa.2 - 5 686 c.376C>T c.(376-378)CGT>TGT p.R126C LIN9_uc001hqb.2_Missense_Mutation_p.R91C|LIN9_uc001hqc.2_Missense_Mutation_p.R58C|LIN9_uc009xel.1_Missense_Mutation_p.R91C NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 110 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) AGCAGATTACGTAATCGAAAA 0.303 99 123 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228495859 228495859 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:228495859G>A uc009xez.1 + 47 12558 c.12514G>A c.(12514-12516)GCC>ACC p.A4172T OBSCN_uc001hsn.2_Missense_Mutation_p.A4172T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4172 Ig-like 43. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGAGGTGACGGCCGATGAGGA 0.597 20 64 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247588143 247588143 + Silent SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:247588143C>A uc001icr.2 + 5 1536 c.1398C>A c.(1396-1398)CTC>CTA p.L466L NLRP3_uc001ics.2_Silent_p.L466L|NLRP3_uc001icu.2_Silent_p.L466L|NLRP3_uc001icw.2_Silent_p.L466L|NLRP3_uc001icv.2_Silent_p.L466L|NLRP3_uc010pyw.1_Silent_p.L464L|NLRP3_uc001ict.1_Silent_p.L464L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 466 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCGCCCACCTCTGGGGGCTCT 0.592 11 37 --- --- --- --- PASS OR2T10 127069 broad.mit.edu 37 1 248756875 248756875 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr1:248756875C>G uc010pzn.1 - 1 195 c.195G>C c.(193-195)CAG>CAC p.Q65H NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGAGTGAGAGCTGGTTTATAA 0.428 33 46 --- --- --- --- PASS SH3YL1 26751 broad.mit.edu 37 2 229996 229996 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:229996C>A uc002qvx.2 - 8 835 c.751G>T c.(751-753)GCA>TCA p.A251S SH3YL1_uc002qvy.2_Missense_Mutation_p.A251S|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.A155S|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.A155S|SH3YL1_uc002qvw.2_RNA NM_015677 NP_056492 Q96HL8 SH3Y1_HUMAN SH3 domain containing, Ysc84-like 1 isoform 1 251 ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) TGGACTGGTGCAGATGACTGC 0.313 41 61 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8938353 8938353 + Silent SNP A C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:8938353A>C uc002qzc.2 - 10 1160 c.978T>G c.(976-978)CCT>CCG p.P326P KIDINS220_uc010yiv.1_Silent_p.P92P|KIDINS220_uc002qzd.2_Silent_p.P284P|KIDINS220_uc010yiw.1_Silent_p.P327P NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 326 Cytoplasmic (Potential).|ANK 10. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTTCAGTGTCAGGATTGCACT 0.343 45 75 --- --- --- --- PASS GCKR 2646 broad.mit.edu 37 2 27720154 27720154 + Missense_Mutation SNP A C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:27720154A>C uc002rky.2 + 2 170 c.104A>C c.(103-105)AAC>ACC p.N35T FNDC4_uc002rkx.2_5'Flank|GCKR_uc010ezd.2_Missense_Mutation_p.N35T|GCKR_uc010ylu.1_5'UTR NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 35 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) GAGAAGTCAAACCCACTGACC 0.537 8 174 --- --- --- --- PASS SPDYA 245711 broad.mit.edu 37 2 29045243 29045243 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:29045243G>T uc002rmj.2 + 5 553 c.347G>T c.(346-348)AGT>ATT p.S116I SPDYA_uc002rmi.2_Missense_Mutation_p.S116I|SPDYA_uc002rmk.2_Missense_Mutation_p.S116I|SPDYA_uc002rml.2_Missense_Mutation_p.S116I NM_182756 NP_877433 Q5MJ70 SPDYA_HUMAN speedy homolog A isoform 1 116 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) TTTACTATAAGTGAGCATACC 0.254 25 34 --- --- --- --- PASS EML4 27436 broad.mit.edu 37 2 42472648 42472648 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:42472648A>G uc002rsi.2 + 2 291 c.29A>G c.(28-30)GAT>GGT p.D10G EML4_uc002rsh.3_Missense_Mutation_p.D10G|EML4_uc010fap.2_Missense_Mutation_p.D10G NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 10 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 TTTATAGATGATAGTATTTCT 0.338 T ALK NSCLC 19 18 --- --- --- --- PASS FBXO11 80204 broad.mit.edu 37 2 48035532 48035532 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:48035532T>C uc010fbl.2 - 22 2452 c.2338A>G c.(2338-2340)ATA>GTA p.I780V FBXO11_uc002rwe.2_Missense_Mutation_p.I780V|FBXO11_uc010fbk.2_Missense_Mutation_p.I288V NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 864 UBR-type. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.I780V(1) ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCACACATATGGCATTTCGA 0.338 77 145 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873991 48873991 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:48873991T>A uc010yol.1 + 5 2806 c.2759T>A c.(2758-2760)GTG>GAG p.V920E STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V967E|GTF2A1L_uc002rws.1_Missense_Mutation_p.V263E|GTF2A1L_uc010yom.1_Missense_Mutation_p.V229E|GTF2A1L_uc002rwt.2_Missense_Mutation_p.V263E NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 920 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTGGAGTCAGTGCTCAGTGGT 0.463 62 96 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56420458 56420458 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:56420458G>A uc002rzn.2 + 2 1625 c.1123G>A c.(1123-1125)GGA>AGA p.G375R NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 375 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCACAAACACGGAGGAGGCAG 0.642 15 19 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80096990 80096990 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:80096990C>A uc010ysh.1 + 4 519 c.514C>A c.(514-516)CTT>ATT p.L172I CTNNA2_uc010yse.1_Missense_Mutation_p.L172I|CTNNA2_uc010ysf.1_Missense_Mutation_p.L172I|CTNNA2_uc010ysg.1_Missense_Mutation_p.L172I NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 172 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGAGCAAGACCTTGCAAACCG 0.378 70 115 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80529586 80529586 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:80529586G>A uc002sok.1 - 2 1629 c.1359C>T c.(1357-1359)TTC>TTT p.F453F CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 453 Cytoplasmic (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GGCTGGCTGGGAAACACTTCC 0.577 HNSCC(69;0.2) 5 50 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89309488 89309488 + RNA SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:89309488A>G uc010ytr.1 - 74 c.6859T>C uc002stl.2_Intron Parts of antibodies, mostly variable regions. GAGGGTAACTATTAAGCTGTT 0.507 96 158 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90121978 90121978 + RNA SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:90121978C>A uc010fhm.2 + 16 c.1847C>A Parts of antibodies, mostly variable regions. AGGGAAAGTCCCTAAGCACCT 0.507 112 203 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100182031 100182031 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:100182031C>T uc002tag.2 - 19 3273 c.3037G>A c.(3037-3039)GAG>AAG p.E1013K AFF3_uc002taf.2_Missense_Mutation_p.E1038K NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 1013 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TTTCCACACTCGATAAACGAC 0.398 98 148 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135779388 135779388 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:135779388T>C uc002tue.1 - 2 66 c.35A>G c.(34-36)GAG>GGG p.E12G YSK4_uc010fne.1_5'UTR|YSK4_uc002tuf.1_Missense_Mutation_p.E12G|YSK4_uc010fnc.1_Missense_Mutation_p.E12G|YSK4_uc010fnd.1_Missense_Mutation_p.E12G|YSK4_uc010zbg.1_Missense_Mutation_p.E12G|YSK4_uc002tui.3_Missense_Mutation_p.E29G NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 12 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) AAGCAATGACTCAGCATGTCT 0.333 40 126 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160303316 160303316 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:160303316T>C uc002uao.2 - 6 1025 c.673A>G c.(673-675)AGA>GGA p.R225G BAZ2B_uc002uap.2_Missense_Mutation_p.R223G|BAZ2B_uc002uas.1_Missense_Mutation_p.R162G|BAZ2B_uc002uau.1_Missense_Mutation_p.R223G|BAZ2B_uc002uaq.1_Missense_Mutation_p.R153G|BAZ2B_uc002uat.3_Missense_Mutation_p.R162G|BAZ2B_uc010fop.1_Missense_Mutation_p.R223G NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 225 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTGTCAACTCTAGCATCCAAA 0.358 127 205 --- --- --- --- PASS PDK1 5163 broad.mit.edu 37 2 173427012 173427012 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:173427012A>G uc002uhr.2 + 3 503 c.403A>G c.(403-405)ATT>GTT p.I135V PDK1_uc010zdz.1_5'UTR|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Missense_Mutation_p.I135V|PDK1_uc002uhs.2_Missense_Mutation_p.I135V|PDK1_uc010zeb.1_Missense_Mutation_p.I135V NM_002610 NP_002601 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase 1 precursor 135 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.12) TGCTAAAGCTATTTATGAGTA 0.333 Autosomal_Dominant_Polycystic_Kidney_Disease 98 172 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179584771 179584771 + Silent SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:179584771A>G uc010zfg.1 - 78 20090 c.19866T>C c.(19864-19866)TAT>TAC p.Y6622Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.Y3283Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7549 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) TTTGGCATATATATTTTCCAG 0.398 22 70 --- --- --- --- PASS ITGAV 3685 broad.mit.edu 37 2 187500923 187500923 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:187500923A>G uc002upq.2 + 7 1022 c.746A>G c.(745-747)GAC>GGC p.D249G ITGAV_uc010frs.2_Missense_Mutation_p.D213G|ITGAV_uc010zfv.1_Missense_Mutation_p.D203G NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 249 FG-GAP 4.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ATTTTTGATGACAGCTATTTG 0.328 30 184 --- --- --- --- PASS SF3B1 23451 broad.mit.edu 37 2 198281577 198281577 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:198281577T>C uc002uue.2 - 6 602 c.554A>G c.(553-555)AAT>AGT p.N185S SF3B1_uc010fsk.1_RNA NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 185 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGCTGCTCCATTGACGACTTT 0.433 174 234 --- --- --- --- PASS SPATS2L 26010 broad.mit.edu 37 2 201283977 201283977 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:201283977A>G uc002uvn.3 + 6 555 c.203A>G c.(202-204)AAT>AGT p.N68S SPATS2L_uc010fst.2_Missense_Mutation_p.N68S|SPATS2L_uc002uvo.3_Missense_Mutation_p.N8S|SPATS2L_uc002uvp.3_Missense_Mutation_p.N68S|SPATS2L_uc002uvq.3_Missense_Mutation_p.N68S|SPATS2L_uc002uvr.3_Missense_Mutation_p.N68S|SPATS2L_uc010zhc.1_Missense_Mutation_p.N98S NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 68 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 TTCTAGAACAATAAAAGAAAA 0.403 4 5 --- --- --- --- PASS INO80D 54891 broad.mit.edu 37 2 206921016 206921016 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:206921016G>A uc002vaz.3 - 4 1275 c.870C>T c.(868-870)TTC>TTT p.F290F NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 290 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 AGTGTGGAGAGAAGGCTGTGG 0.537 29 85 --- --- --- --- PASS ABCB6 10058 broad.mit.edu 37 2 220078648 220078648 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr2:220078648G>A uc002vkc.1 - 9 1755 c.1478C>T c.(1477-1479)TCA>TTA p.S493L ABCB6_uc010fwe.1_Missense_Mutation_p.S447L NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B, member 6 493 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAAAACCAGTGAAGCGCTCGA 0.542 94 119 --- --- --- --- PASS TIMP4 7079 broad.mit.edu 37 3 12195884 12195884 + Silent SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:12195884C>A uc003bwo.2 - 4 727 c.420G>T c.(418-420)CTG>CTT p.L140L SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron NM_003256 NP_003247 Q99727 TIMP4_HUMAN tissue inhibitor of metalloproteinase 4 140 NTR. metal ion binding|metalloendopeptidase inhibitor activity 0 GCACCAAGGACAGGTCCTCCC 0.502 92 53 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19436804 19436804 + Splice_Site SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:19436804G>A uc003cbk.1 + 7 1372 c.1177_splice c.e7+1 p.G393_splice KCNH8_uc011awe.1_Splice_Site_p.G393_splice|KCNH8_uc010hex.1_Splice_Site|KCNH8_uc011awf.1_Splice_Site_p.G24_splice NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TGGGAAGTTGGTAAGGGCTTA 0.363 54 41 --- --- --- --- PASS LARS2 23395 broad.mit.edu 37 3 45588957 45588957 + Nonsense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:45588957C>T uc003cop.1 + 22 2832 c.2647C>T c.(2647-2649)CGA>TGA p.R883* LARS2_uc010hit.1_Nonsense_Mutation_p.R840* NM_015340 NP_056155 Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 883 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) TTTGCAAGGACGAAGCATCAA 0.537 6 161 --- --- --- --- PASS ATXN7 6314 broad.mit.edu 37 3 63981634 63981634 + Silent SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:63981634A>G uc003dlw.3 + 12 2689 c.2136A>G c.(2134-2136)CCA>CCG p.P712P ATXN7_uc003dlv.2_Silent_p.P712P|ATXN7_uc010hnv.2_Silent_p.P712P|ATXN7_uc011bfn.1_Silent_p.P567P NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 712 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) ACAGTTCCCCACTGTTGGTTC 0.403 36 20 --- --- --- --- PASS LRIG1 26018 broad.mit.edu 37 3 66436511 66436511 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:66436511G>T uc003dmx.2 - 13 1697 c.1683C>A c.(1681-1683)ATC>ATA p.I561I SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.I181I|LRIG1_uc003dmw.2_Silent_p.I227I|LRIG1_uc010hnz.2_Silent_p.I277I|LRIG1_uc010hoa.2_Silent_p.I585I NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 561 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GGAGGTGCAGGATGGTGGTGT 0.552 104 56 --- --- --- --- PASS FILIP1L 11259 broad.mit.edu 37 3 99649618 99649618 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:99649618G>T uc003dtm.2 - 2 710 c.247C>A c.(247-249)CTG>ATG p.L83M C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L83M|uc003dtq.2_5'Flank NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 83 cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 CTGACCTGCAGTTCTCCCTCC 0.493 10 39 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136076678 136076678 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:136076678C>T uc003era.1 - 28 3241 c.2949G>A c.(2947-2949)GAG>GAA p.E983E STAG1_uc003erb.1_Silent_p.E983E NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 983 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TAAATGCAAACTCTATGCCAT 0.323 44 53 --- --- --- --- PASS SMC4 10051 broad.mit.edu 37 3 160118637 160118637 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:160118637C>T uc003fdh.2 + 2 136 c.23C>T c.(22-24)CCC>CTC p.P8L IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.P8L|SMC4_uc010hwc.1_5'UTR|SMC4_uc003fdi.2_Missense_Mutation_p.P8L|SMC4_uc003fdj.2_Missense_Mutation_p.P8L|SMC4_uc010hwd.2_Missense_Mutation_p.P8L NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 8 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGCACCCAGCCCTCCACTGCC 0.771 4 15 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 166960360 166960360 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:166960360T>C uc003fep.2 - 20 2532 c.2209A>G c.(2209-2211)AGT>GGT p.S737G ZBBX_uc011bpc.1_Missense_Mutation_p.S776G|ZBBX_uc003feq.2_Missense_Mutation_p.S708G NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 737 intracellular zinc ion binding ovary(2) 2 GAAATCTGACTTATATTCAGT 0.368 144 70 --- --- --- --- PASS GHSR 2693 broad.mit.edu 37 3 172166129 172166129 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:172166129G>A uc003fib.1 - 1 75 c.75C>T c.(73-75)CCC>CCT p.P25P GHSR_uc011bpv.1_Silent_p.P25P NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 25 Extracellular (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGTCGTTGCCGGGGGAAGCAT 0.682 17 53 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184297317 184297317 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr3:184297317T>A uc003foz.2 + 10 2291 c.1854T>A c.(1852-1854)AAT>AAA p.N618K NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 618 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGGACCCTAATGAGGCTGTTC 0.552 32 235 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66189926 66189926 + Missense_Mutation SNP C A A rs145811811 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr4:66189926C>A uc003hcy.2 - 18 3213 c.3020G>T c.(3019-3021)CGG>CTG p.R1007L EPHA5_uc003hcx.2_Missense_Mutation_p.R939L|EPHA5_uc003hcz.2_Missense_Mutation_p.R985L|EPHA5_uc011cah.1_Missense_Mutation_p.R1008L|EPHA5_uc011cai.1_Missense_Mutation_p.R986L NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 1007 Cytoplasmic (Potential).|SAM. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.R1007Q(1) lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CACTCCAAGCCGTCTCAAATC 0.433 TSP Lung(17;0.13) 44 47 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94436493 94436493 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr4:94436493G>C uc011cdt.1 + 13 2382 c.2124G>C c.(2122-2124)ATG>ATC p.M708I GRID2_uc011cdu.1_Missense_Mutation_p.M613I NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 708 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ATTCCCAAATGTGGCGGATGA 0.473 34 27 --- --- --- --- PASS CFI 3426 broad.mit.edu 37 4 110662170 110662170 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr4:110662170A>G uc003hzr.3 - 13 1839 c.1631T>C c.(1630-1632)GTG>GCG p.V544A CFI_uc003hzq.2_Missense_Mutation_p.V341A|CFI_uc011cft.1_Missense_Mutation_p.V552A|CFI_uc003hzs.3_Missense_Mutation_p.V537A NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 544 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCCCCAACTCACAACACCCCA 0.463 17 433 --- --- --- --- PASS BBS12 166379 broad.mit.edu 37 4 123665027 123665027 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr4:123665027G>T uc003ieu.2 + 2 2173 c.1980G>T c.(1978-1980)CCG>CCT p.P660P NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 660 cellular protein metabolic process cilium ATP binding ovary(2) 2 AGCAGATTCCGAGAGTTTATG 0.368 Bardet-Biedl_syndrome 3 101 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126240503 126240503 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr4:126240503T>A uc003ifj.3 + 1 2937 c.2937T>A c.(2935-2937)AGT>AGA p.S979R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 979 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCTCCTCTAGTGTCATCTTAA 0.448 78 66 --- --- --- --- PASS LARP1B 55132 broad.mit.edu 37 4 129012165 129012165 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr4:129012165G>T uc003iga.2 + 6 499 c.368G>T c.(367-369)CGA>CTA p.R123L LARP1B_uc003ifw.1_Missense_Mutation_p.R76L|LARP1B_uc003ifx.2_Missense_Mutation_p.R123L|LARP1B_uc003ify.2_Missense_Mutation_p.R123L|LARP1B_uc003ifz.1_Missense_Mutation_p.R123L NM_018078 NP_060548 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family member 2 123 Arg-rich. RNA binding 0 GGTTGGAAGCGAGATAGAGAA 0.373 3 85 --- --- --- --- PASS NEIL3 55247 broad.mit.edu 37 4 178272630 178272630 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr4:178272630C>T uc003iut.2 + 7 1083 c.966C>T c.(964-966)ACC>ACT p.T322T NEIL3_uc010irs.2_Intron NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 322 RanBP2-type. base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) AGCACTGGACCTGTGTGGTGT 0.438 BER_DNA_glycosylases 118 100 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11346612 11346612 + Silent SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr5:11346612C>A uc003jfa.1 - 9 1645 c.1500G>T c.(1498-1500)GCG>GCT p.A500A CTNND2_uc010itt.2_Silent_p.A409A|CTNND2_uc011cmy.1_Silent_p.A163A|CTNND2_uc011cmz.1_Silent_p.A67A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A67A NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 500 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GGTAGGGGTCCGCGTAATTGG 0.657 177 113 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535250 24535250 + Missense_Mutation SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr5:24535250A>T uc003jgr.1 - 5 1117 c.785T>A c.(784-786)GTC>GAC p.V262D CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 262 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GTTGTCATTGACATCTGTCAG 0.448 HNSCC(23;0.051) 10 250 --- --- --- --- PASS TIMD4 91937 broad.mit.edu 37 5 156390197 156390197 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr5:156390197G>T uc003lwh.2 - 1 70 c.13C>A c.(13-15)CCT>ACT p.P5T TIMD4_uc010jii.2_Missense_Mutation_p.P5T NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 5 integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAATGAGAGGTTCTTTGGAC 0.453 62 27 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156787368 156787368 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr5:156787368T>A uc003lwq.2 + 27 3034 c.2896T>A c.(2896-2898)TAT>AAT p.Y966N CYFIP2_uc011ddn.1_Missense_Mutation_p.Y940N|CYFIP2_uc011ddo.1_Missense_Mutation_p.Y770N|CYFIP2_uc003lwr.2_Missense_Mutation_p.Y966N|CYFIP2_uc003lws.2_Missense_Mutation_p.Y966N|CYFIP2_uc003lwt.2_Missense_Mutation_p.Y869N|CYFIP2_uc011ddp.1_Missense_Mutation_p.Y700N NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 991 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCGACATGAGTATGGCTCCCC 0.502 54 51 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161580117 161580117 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr5:161580117C>G uc003lyz.3 + 9 1505 c.1147C>G c.(1147-1149)CGC>GGC p.R383G GABRG2_uc010jjc.2_Missense_Mutation_p.R431G|GABRG2_uc003lyy.3_Missense_Mutation_p.R391G|GABRG2_uc011dej.1_Missense_Mutation_p.R288G NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 383 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CATTGATATCCGCCCAAGATC 0.493 53 43 --- --- --- --- PASS SH3PXD2B 285590 broad.mit.edu 37 5 171766540 171766540 + Silent SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr5:171766540A>T uc003mbr.2 - 13 1740 c.1569T>A c.(1567-1569)CCT>CCA p.P523P NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 523 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTTCCGCGGAGGGAGGCTGG 0.632 60 23 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17675990 17675990 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:17675990T>C uc003ncd.1 - 3 546 c.346A>G c.(346-348)ACT>GCT p.T116A NUP153_uc011dje.1_Missense_Mutation_p.T116A|NUP153_uc010jpl.1_Missense_Mutation_p.T116A NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 116 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GCAGTACTAGTTGTTGAAGGT 0.348 54 98 --- --- --- --- PASS ID4 3400 broad.mit.edu 37 6 19838206 19838206 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:19838206G>T uc003ncw.2 + 1 590 c.221G>T c.(220-222)CGC>CTC p.R74L NM_001546 NP_001537 P47928 ID4_HUMAN inhibitor of DNA binding 4, dominant negative 74 Helix-loop-helix motif. transcription corepressor activity 0 Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12) OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621) TGCTATAGCCGCCTGCGGAGG 0.562 6 3 --- --- --- --- PASS BTN1A1 696 broad.mit.edu 37 6 26505264 26505264 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:26505264C>A uc003nif.3 + 3 559 c.539C>A c.(538-540)TCC>TAC p.S180Y NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 180 Extracellular (Potential).|Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 TGGAGAACTTCCAAGGGAGAG 0.498 48 94 --- --- --- --- PASS OR12D3 81797 broad.mit.edu 37 6 29342373 29342373 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:29342373C>A uc003nme.2 - 1 696 c.692G>T c.(691-693)AGA>ATA p.R231I NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 GTGGAGTATTCTGCAGGACCT 0.463 63 71 --- --- --- --- PASS OR10C1 442194 broad.mit.edu 37 6 29408069 29408069 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:29408069C>T uc011dlp.1 + 1 277 c.277C>T c.(277-279)CGC>TGC p.R93C OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCACATCTCTCGCTCTGGATG 0.592 63 107 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32018015 32018015 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:32018015T>A uc003nzl.2 - 27 9395 c.9193A>T c.(9193-9195)ACC>TCC p.T3065S NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3112 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TCTGTCACGGTCAGCTCCCCC 0.622 34 75 --- --- --- --- PASS HLA-DPA1 3113 broad.mit.edu 37 6 33041344 33041344 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:33041344G>A uc003ocs.1 - 1 35 c.4C>T c.(4-6)CGC>TGC p.R2C HLA-DPA1_uc010juk.2_Missense_Mutation_p.R2C|HLA-DPA1_uc003oct.1_Missense_Mutation_p.R2C|HLA-DPB1_uc011dqn.1_5'Flank|HLA-DPB1_uc003ocu.1_5'Flank|HLA-DPB1_uc011dqo.1_5'Flank|HLA-DPB1_uc011dqp.1_5'Flank NM_033554 NP_291032 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP 2 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity skin(1) 1 TCTTCAGGGCGCATGTTGTGG 0.532 5 192 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33137206 33137206 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:33137206G>A uc003ocx.1 - 51 3980 c.3752C>T c.(3751-3753)CCA>CTA p.P1251L COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1165L|COL11A2_uc003ocz.1_Missense_Mutation_p.P1144L NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1251 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TTTAGGCCCTGGTGGCCCTGG 0.637 28 41 --- --- --- --- PASS TAPBP 6892 broad.mit.edu 37 6 33272137 33272137 + Nonsense_Mutation SNP G A A rs79026906 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:33272137G>A uc003odx.1 - 5 1318 c.1147C>T c.(1147-1149)CGA>TGA p.R383* TAPBP_uc010jus.1_Nonsense_Mutation_p.R401*|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Nonsense_Mutation_p.R383*|TAPBP_uc010jut.1_Nonsense_Mutation_p.R296*|TAPBP_uc011drc.1_Nonsense_Mutation_p.R383* NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 383 Ig-like C1-type.|Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 TGGTGAATTCGACAGGCATAG 0.652 8 84 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38830121 38830121 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:38830121G>A uc003ooe.1 + 42 6146 c.5546G>A c.(5545-5547)GGC>GAC p.G1849D NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGACCTGCTGGCACTGGCAAA 0.463 62 129 --- --- --- --- PASS TCTE1 202500 broad.mit.edu 37 6 44249916 44249916 + Silent SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:44249916G>C uc003oxi.2 - 4 1383 c.1227C>G c.(1225-1227)CTC>CTG p.L409L SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 409 LRR 4. ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCTGTGACAGGAGTGTGGCGG 0.602 22 30 --- --- --- --- PASS ENPP4 22875 broad.mit.edu 37 6 46107441 46107441 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:46107441C>T uc003oxy.2 + 2 380 c.121C>T c.(121-123)CTG>TTG p.L41L NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 41 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 AGCTGATTATCTGAAGAACTA 0.338 9 235 --- --- --- --- PASS UBE2CBP 90025 broad.mit.edu 37 6 83748153 83748153 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:83748153C>T uc003pjp.2 - 5 757 c.649G>A c.(649-651)GGA>AGA p.G217R UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Missense_Mutation_p.G185R NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 217 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) ACGGTCTCTCCCAACATTACC 0.328 61 112 --- --- --- --- PASS FIG4 9896 broad.mit.edu 37 6 110056478 110056478 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:110056478G>T uc003ptt.2 + 6 838 c.623G>T c.(622-624)GGA>GTA p.G208V FIG4_uc011eau.1_Missense_Mutation_p.G62V NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 208 SAC. cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GAAGATGAAGGATTAATTACA 0.368 83 155 --- --- --- --- PASS C6orf204 387119 broad.mit.edu 37 6 118801596 118801596 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:118801596T>C uc003pxz.1 - 9 2414 c.1826A>G c.(1825-1827)AAT>AGT p.N609S NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 609 Potential. centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) GAGATTATCATTTTCATTCTG 0.343 76 121 --- --- --- --- PASS TXLNB 167838 broad.mit.edu 37 6 139583798 139583798 + Missense_Mutation SNP C T T rs147752054 by1000genomes TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:139583798C>T uc011eds.1 - 5 965 c.800G>A c.(799-801)CGA>CAA p.R267Q NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 267 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CTTCATATTTCGCTCACTCTG 0.498 87 123 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146720537 146720537 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:146720537G>C uc010khw.1 + 8 2832 c.2362G>C c.(2362-2364)GCG>CCG p.A788P GRM1_uc010khv.1_Missense_Mutation_p.A788P|GRM1_uc003qll.2_Missense_Mutation_p.A788P|GRM1_uc011edz.1_Missense_Mutation_p.A788P|GRM1_uc011eea.1_Missense_Mutation_p.A788P NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 788 Helical; Name=6; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAAATATATCGCGTTCACCAT 0.493 64 117 --- --- --- --- PASS PLEKHG1 57480 broad.mit.edu 37 6 151161857 151161857 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:151161857G>A uc003qny.1 + 17 4295 c.3983G>A c.(3982-3984)CGC>CAC p.R1328H PLEKHG1_uc011eem.1_Missense_Mutation_p.R1387H NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 1328 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AATAGTCCGCGCACTCCAAAA 0.428 13 179 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160525909 160525909 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:160525909G>T uc003qta.2 + 48 7417 c.7269G>T c.(7267-7269)TCG>TCT p.S2423S NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 2423 Cytoplasmic (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AAGTTCACTCGGGCAGGGGAG 0.587 49 97 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21646301 21646301 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:21646301T>A uc003svc.2 + 20 3833 c.3802T>A c.(3802-3804)TAT>AAT p.Y1268N NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1268 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ATTCAGACACTATGCCCCTCT 0.333 Kartagener_syndrome 18 33 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21730458 21730458 + Silent SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:21730458T>A uc003svc.2 + 36 6052 c.6021T>A c.(6019-6021)GCT>GCA p.A2007A NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2007 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CGGGTTATGCTGGTCGAACCG 0.408 Kartagener_syndrome 123 240 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21757534 21757534 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:21757534C>A uc003svc.2 + 44 7177 c.7146C>A c.(7144-7146)AGC>AGA p.S2382R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2382 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTGAGAGTAGCCTGGTGCAGG 0.403 Kartagener_syndrome 69 165 --- --- --- --- PASS ELMO1 9844 broad.mit.edu 37 7 37298804 37298804 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:37298804A>G uc003tfk.1 - 6 702 c.395T>C c.(394-396)ATG>ACG p.M132T ELMO1_uc011kbc.1_Missense_Mutation_p.M36T|ELMO1_uc010kxg.1_Missense_Mutation_p.M132T NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 132 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GCTCTCCACCATCTGCGTGAG 0.522 18 53 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43496007 43496007 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:43496007G>C uc003tid.1 + 13 3217 c.2612G>C c.(2611-2613)AGA>ACA p.R871T HECW1_uc011kbi.1_Missense_Mutation_p.R837T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 871 Potential. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GGCATGCGGAGATCGGGGTCC 0.582 11 44 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86416271 86416271 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:86416271C>A uc003uid.2 + 3 2262 c.1163C>A c.(1162-1164)TCC>TAC p.S388Y GRM3_uc010lef.2_Missense_Mutation_p.S386Y|GRM3_uc010leg.2_Missense_Mutation_p.S260Y|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 388 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GAGCAAGAGTCCAAGATCATG 0.542 29 137 --- --- --- --- PASS CDK14 5218 broad.mit.edu 37 7 90419918 90419918 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:90419918G>A uc003uky.2 + 5 717 c.495G>A c.(493-495)GTG>GTA p.V165V CDK14_uc003ukt.1_Silent_p.V119V|CDK14_uc003ukv.1_Silent_p.V119V|CDK14_uc003uku.1_Silent_p.V119V|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Silent_p.V147V|CDK14_uc010les.1_Silent_p.V119V|CDK14_uc011khl.1_Silent_p.V36V NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 165 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 CTCTGAAGGTGATCAGGCTGC 0.403 43 73 --- --- --- --- PASS FZD1 8321 broad.mit.edu 37 7 90895353 90895353 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:90895353C>T uc003ula.2 + 1 1571 c.1158C>T c.(1156-1158)GCC>GCT p.A386A NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 386 Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) ACAAGTTCGCCGAGGACGGGG 0.602 59 107 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122765635 122765635 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:122765635T>C uc003vkm.2 - 11 1253 c.1228A>G c.(1228-1230)ACA>GCA p.T410A SLC13A1_uc010lks.2_Missense_Mutation_p.T286A NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 410 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) ATTTCTCCTGTAGGTGTAGTT 0.368 87 143 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128492892 128492892 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:128492892C>T uc003vnz.3 + 37 6224 c.6015C>T c.(6013-6015)TTC>TTT p.F2005F FLNC_uc003voa.3_Silent_p.F1972F NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2005 Filamin 18. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GGATCTCCTTCACCCCCAAGG 0.632 49 68 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135048771 135048771 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr7:135048771C>A uc011kpy.1 - 10 1767 c.1675G>T c.(1675-1677)GGG>TGG p.G559W CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_Missense_Mutation_p.G556W|CNOT4_uc003vst.2_Intron NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 GCCCTTAGCCCGTCCTGCCAT 0.428 70 208 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3855524 3855524 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:3855524G>A uc011kwk.1 - 5 1109 c.719C>T c.(718-720)GCT>GTT p.A240V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 240 Extracellular (Potential).|CUB 2. 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) CCCGGGCTCAGCCAGAATGGT 0.562 7 7 --- --- --- --- PASS KCTD9 54793 broad.mit.edu 37 8 25296837 25296837 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:25296837G>A uc003xeo.2 - 6 615 c.457C>T c.(457-459)CGT>TGT p.R153C PPP2R2A_uc003xek.2_Intron NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 153 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) TGTCCATGACGCAAGTAGTTC 0.353 7 67 --- --- --- --- PASS GSR 2936 broad.mit.edu 37 8 30567337 30567337 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:30567337T>C uc003xih.1 - 3 507 c.416A>G c.(415-417)AAT>AGT p.N139S NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 139 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TTACCGCCAATTGAATTTACC 0.368 47 21 --- --- --- --- PASS TRAM1 23471 broad.mit.edu 37 8 71506818 71506818 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:71506818T>C uc003xyo.1 - 6 663 c.493A>G c.(493-495)ATG>GTG p.M165V TRAM1_uc011lfc.1_Missense_Mutation_p.M134V NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 165 Helical; (Potential).|TLC. cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) AAAAACTTCATTTGAAATCTG 0.308 52 106 --- --- --- --- PASS FABP5 2171 broad.mit.edu 37 8 82195650 82195650 + Silent SNP T C C rs143988575 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:82195650T>C uc003yca.1 + 2 177 c.129T>C c.(127-129)TGT>TGC p.C43C NM_001444 NP_001435 Q01469 FABP5_HUMAN fatty acid binding protein 5 43 epidermis development cytoplasm fatty acid binding|protein binding|transporter activity 0 Lung NSC(7;3.57e-05)|all_lung(9;0.00011) Epithelial(68;0.102) AGCCAGATTGTATCATCACTT 0.388 58 55 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885116 88885116 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:88885116C>A uc003ydz.2 - 1 1181 c.1084G>T c.(1084-1086)GAC>TAC p.D362Y NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 362 ovary(1) 1 CTGGGAATGTCGTTCTCCGAG 0.627 9 172 --- --- --- --- PASS KCNS2 3788 broad.mit.edu 37 8 99440386 99440386 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:99440386A>G uc003yin.2 + 2 529 c.179A>G c.(178-180)GAT>GGT p.D60G NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 60 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GAGCTCTGCGATGACTACGAC 0.627 25 165 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139180147 139180147 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:139180147G>A uc003yuy.2 - 12 1420 c.1249C>T c.(1249-1251)CCT>TCT p.P417S FAM135B_uc003yux.2_Missense_Mutation_p.P318S|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 417 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTGTCGCAGGGCAGTCCACG 0.507 HNSCC(54;0.14) 68 238 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143956549 143956549 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr8:143956549A>G uc003yxi.2 - 8 1229 c.1222T>C c.(1222-1224)TAC>CAC p.Y408H CYP11B1_uc010mex.2_Missense_Mutation_p.Y107H|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Missense_Mutation_p.Y479H NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 408 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CCCAGAGAGTAGAGGAACACG 0.632 Familial_Hyperaldosteronism_type_I 98 83 --- --- --- --- PASS GRHPR 9380 broad.mit.edu 37 9 37424897 37424897 + Nonsense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr9:37424897C>T uc003zzu.1 + 2 180 c.139C>T c.(139-141)CGA>TGA p.R47* GRHPR_uc010mlu.2_5'UTR|GRHPR_uc010mlv.1_5'UTR|GRHPR_uc003zzt.1_5'UTR NM_012203 NP_036335 Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 47 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding 0 GBM - Glioblastoma multiforme(29;0.00687) GGAGCTAGAGCGAGGTGTGGC 0.667 16 26 --- --- --- --- PASS C9orf135 138255 broad.mit.edu 37 9 72459523 72459523 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr9:72459523G>T uc004ahl.2 + 2 308 c.243G>T c.(241-243)CTG>CTT p.L81L C9orf135_uc011lrw.1_Intron|C9orf135_uc010moq.2_Intron|C9orf135_uc011lrx.1_Intron|C9orf135_uc010mop.2_Silent_p.L81L NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 81 Extracellular (Potential). integral to membrane ovary(1) 1 ATCGGCGACTGGGAACCGATG 0.388 5 89 --- --- --- --- PASS SLC27A4 10999 broad.mit.edu 37 9 131110861 131110861 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr9:131110861C>T uc004but.2 + 4 878 c.594C>T c.(592-594)CTC>CTT p.L198L SLC27A4_uc004buu.2_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 198 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 ACCCCTCGCTCAGCCTCTTCT 0.627 50 35 --- --- --- --- PASS POMT1 10585 broad.mit.edu 37 9 134393912 134393912 + Silent SNP C T T rs144385159 byFrequency TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr9:134393912C>T uc004cav.2 + 14 1621 c.1419C>T c.(1417-1419)TCC>TCT p.S473S POMT1_uc004cax.2_Silent_p.S451S|POMT1_uc011mcj.1_Silent_p.S229S|POMT1_uc004cau.2_Silent_p.S451S|POMT1_uc004caw.2_Silent_p.S397S|POMT1_uc011mck.1_Silent_p.S334S|POMT1_uc011mcl.1_Silent_p.S299S|POMT1_uc011mcm.1_Silent_p.S421S|POMT1_uc011mcn.1_Silent_p.S176S NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 isoform a 473 MIR 3. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TGAACACTTCCGCTGTCTTAA 0.537 183 107 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140880881 140880881 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr9:140880881C>T uc004cog.2 + 14 1931 c.1786C>T c.(1786-1788)CGG>TGG p.R596W CACNA1B_uc011mfd.1_Missense_Mutation_p.R127W NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 596 Cytoplasmic (Potential).|II. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GAGCTCCCTGCGGAACCTGGT 0.587 3 25 --- --- --- --- PASS FRMD4A 55691 broad.mit.edu 37 10 13900908 13900908 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr10:13900908G>A uc001ims.2 - 3 402 c.50C>T c.(49-51)ACG>ATG p.T17M FRMD4A_uc009xjf.1_Missense_Mutation_p.T17M|FRMD4A_uc001imt.1_Missense_Mutation_p.T50M|FRMD4A_uc001imu.1_Missense_Mutation_p.T33M NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 17 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GCGGCCCTCCGTCATCTAAGA 0.498 9 147 --- --- --- --- PASS MLLT10 8028 broad.mit.edu 37 10 21959404 21959404 + Silent SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr10:21959404T>A uc001iqs.2 + 10 1170 c.822T>A c.(820-822)TCT>TCA p.S274S MLLT10_uc001iqt.2_Silent_p.S274S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.S274S|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_Silent_p.S29S NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 274 Self-association. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 GCAACAACTCTATATCTGGAT 0.368 T MLL|PICALM|CDK6 AL 33 23 --- --- --- --- PASS SLC18A2 6571 broad.mit.edu 37 10 119013587 119013587 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr10:119013587C>T uc001ldd.1 + 5 583 c.552C>T c.(550-552)TTC>TTT p.F184F SLC18A2_uc009xyy.1_5'UTR NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 184 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GCTATGCCTTCCTGCTGATTG 0.602 146 76 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1016826 1016826 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:1016826G>T uc001lsw.2 - 31 6026 c.5975C>A c.(5974-5976)ACC>AAC p.T1992N NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1992 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATAGGTAGTGGTGGTCTGGAA 0.552 19 676 --- --- --- --- PASS OR51A4 401666 broad.mit.edu 37 11 4967668 4967668 + Silent SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:4967668C>G uc010qys.1 - 1 663 c.663G>C c.(661-663)CTG>CTC p.L221L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTTGAGGATCAGGGTGTAAG 0.428 45 101 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023374 6023374 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:6023374G>T uc010qzv.1 - 1 1005 c.1005C>A c.(1003-1005)CAC>CAA p.H335Q NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAATGAGGTGGTGCAGGATGT 0.493 38 55 --- --- --- --- PASS OR6A2 8590 broad.mit.edu 37 11 6816012 6816012 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:6816012G>C uc001mes.1 - 1 1128 c.928C>G c.(928-930)CTG>GTG p.L310V NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TACAGGTGCAGAGTACAGCAT 0.448 56 92 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898608 6898608 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:6898608G>A uc010rat.1 + 1 730 c.730G>A c.(730-732)GCC>ACC p.A244T NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACCTGTTCCGCCCACCTCTT 0.527 82 115 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10503750 10503750 + Silent SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:10503750A>G uc001mio.1 + 4 902 c.567A>G c.(565-567)GCA>GCG p.A189A AMPD3_uc010rbz.1_Silent_p.A30A|AMPD3_uc001min.1_Silent_p.A198A|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Silent_p.A189A|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.A196A|AMPD3_uc009yfy.2_Silent_p.A189A NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 189 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CGGATACTGCACCTCCGGAAG 0.622 43 73 --- --- --- --- PASS INSC 387755 broad.mit.edu 37 11 15247263 15247263 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:15247263G>A uc001mly.2 + 9 1246 c.1200G>A c.(1198-1200)ACG>ACA p.T400T INSC_uc001mlz.2_Silent_p.T353T|INSC_uc001mma.2_Silent_p.T353T|INSC_uc010rcs.1_Silent_p.T388T|INSC_uc001mmb.2_Silent_p.T353T|INSC_uc001mmc.2_Silent_p.T311T NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 400 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CCAACATCACGTTCTTTGACA 0.512 24 31 --- --- --- --- PASS WT1 7490 broad.mit.edu 37 11 32421532 32421532 + Missense_Mutation SNP A C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:32421532A>C uc001mtn.1 - 6 1256 c.1060T>G c.(1060-1062)TAC>GAC p.Y354D WT1_uc001mtl.1_Missense_Mutation_p.Y142D|WT1_uc001mtm.1_Missense_Mutation_p.Y125D|WT1_uc001mto.1_Missense_Mutation_p.Y354D|WT1_uc001mtp.1_Missense_Mutation_p.Y337D|WT1_uc001mtq.1_Missense_Mutation_p.Y337D|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 286 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) TGTATTCTGTATTGGGCTCCG 0.577 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 50 86 --- --- --- --- PASS PEX16 9409 broad.mit.edu 37 11 45935463 45935463 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:45935463C>A uc001nbu.2 - 9 1106 c.794G>T c.(793-795)GGC>GTC p.G265V PEX16_uc001nbt.2_Missense_Mutation_p.G265V NM_004813 NP_004804 Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 isoform 1 265 Interaction with PEX19.|Cytoplasmic (Potential). ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.223) CCGGGTCAGGCCCTTTCTGTC 0.652 10 15 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56058339 56058339 + Nonsense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:56058339G>T uc010rje.1 - 1 200 c.200C>A c.(199-201)TCA>TAA p.S67* NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GTCAATAAATGACAAGTGAGT 0.418 223 391 --- --- --- --- PASS USP28 57646 broad.mit.edu 37 11 113675696 113675696 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:113675696G>A uc001poh.2 - 20 2506 c.2473C>T c.(2473-2475)CTT>TTT p.L825F USP28_uc001pog.2_Missense_Mutation_p.L501F|USP28_uc010rwy.1_Missense_Mutation_p.L668F|USP28_uc001poi.2_Missense_Mutation_p.L148F NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 825 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACATGCTGAAGTCGAGGATCA 0.433 53 88 --- --- --- --- PASS OR8D2 283160 broad.mit.edu 37 11 124189986 124189986 + Silent SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:124189986C>G uc010sah.1 - 1 108 c.108G>C c.(106-108)GTG>GTC p.V36V NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) CCACTGTGACCACATATATTC 0.453 49 120 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128843255 128843255 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:128843255G>A uc009zcp.2 - 21 3104 c.3104C>T c.(3103-3105)CCT>CTT p.P1035L ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.P686L NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1035 Poly-Pro. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 ATTTTTCGGAGGCGGTGGTGG 0.527 121 157 --- --- --- --- PASS SLC2A3 6515 broad.mit.edu 37 12 8077098 8077098 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:8077098C>T uc001qtr.2 - 8 1238 c.976G>A c.(976-978)GTG>ATG p.V326M NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 326 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) GCCCTTTCCACCAGAAATAGC 0.433 27 114 --- --- --- --- PASS KLRC1 3821 broad.mit.edu 37 12 10601872 10601872 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:10601872G>A uc001qyl.2 - 5 617 c.453C>T c.(451-453)AAC>AAT p.N151N KLRC1_uc009zhm.1_Silent_p.N151N|KLRC1_uc001qym.2_Silent_p.N133N|KLRC1_uc001qyn.2_Silent_p.N151N|KLRC1_uc001qyo.2_Silent_p.N133N NM_002259 NP_002250 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, 151 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 GCAGACTGGAGTTCTTCGAAG 0.303 154 246 --- --- --- --- PASS ST8SIA1 6489 broad.mit.edu 37 12 22487151 22487151 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:22487151G>T uc001rfo.3 - 1 498 c.16C>A c.(16-18)CGG>AGG p.R6R ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 6 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 CGCCGGGCCCGCCCGCAGGGG 0.731 26 45 --- --- --- --- PASS CAPRIN2 65981 broad.mit.edu 37 12 30888129 30888129 + Silent SNP C G G rs145888176 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:30888129C>G uc001rji.1 - 4 1333 c.582G>C c.(580-582)GCG>GCC p.A194A CAPRIN2_uc001rjf.1_5'UTR|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Silent_p.A194A|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Silent_p.A194A|CAPRIN2_uc001rjl.3_Silent_p.A194A NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 194 Potential. negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCTTCTTTTGCGCTTTTAGTA 0.378 78 171 --- --- --- --- PASS PPHLN1 51535 broad.mit.edu 37 12 42792791 42792791 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:42792791G>A uc001rng.1 + 9 1009 c.904G>A c.(904-906)GAA>AAA p.E302K PPHLN1_uc001rmy.2_Missense_Mutation_p.E320K|PPHLN1_uc001rna.2_Missense_Mutation_p.E254K|PPHLN1_uc001rne.2_Missense_Mutation_p.E290K|PPHLN1_uc001rnb.2_Missense_Mutation_p.E309K|PPHLN1_uc001rnd.2_Missense_Mutation_p.E254K|PPHLN1_uc001rnc.2_Missense_Mutation_p.E302K|PPHLN1_uc001rnf.2_Missense_Mutation_p.E283K|PPHLN1_uc010skq.1_Missense_Mutation_p.E228K|PPHLN1_uc010skr.1_Missense_Mutation_p.E247K|PPHLN1_uc010sks.1_Missense_Mutation_p.E228K|PPHLN1_uc010skt.1_Missense_Mutation_p.E182K|PPHLN1_uc001rni.1_Missense_Mutation_p.E247K|PPHLN1_uc001rnh.1_RNA|PPHLN1_uc010sku.1_Missense_Mutation_p.E235K|PPHLN1_uc001rnj.2_Missense_Mutation_p.E118K NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN periphilin 1 isoform 1 302 keratinization cytoplasm|nucleus ovary(1)|breast(1) 2 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) CAAAGAGATTGAACAGGTGAG 0.343 61 98 --- --- --- --- PASS ZDHHC17 23390 broad.mit.edu 37 12 77216233 77216233 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:77216233G>T uc001syk.1 + 8 982 c.819G>T c.(817-819)ATG>ATT p.M273I ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN huntingtin interacting protein 14 273 Cytoplasmic (Potential). lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding 0 ATGTGTGGATGATCAACCACT 0.368 17 43 --- --- --- --- PASS MYF6 4618 broad.mit.edu 37 12 81101662 81101662 + Missense_Mutation SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:81101662A>T uc001szf.1 + 1 217 c.164A>T c.(163-165)GAC>GTC p.D55V NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 55 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 GCGGGGAGCGACAGCAGCGGA 0.617 41 57 --- --- --- --- PASS TMEM119 338773 broad.mit.edu 37 12 108985855 108985855 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:108985855C>A uc001tng.2 - 2 468 c.305G>T c.(304-306)GGC>GTC p.G102V TMEM119_uc001tnf.2_RNA NM_181724 NP_859075 Q4V9L6 TM119_HUMAN transmembrane protein 119 precursor 102 Helical; (Potential). integral to membrane ovary(1) 1 GGCCAGGGAGCCCACCACAGC 0.602 36 54 --- --- --- --- PASS FBXW8 26259 broad.mit.edu 37 12 117402577 117402577 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:117402577C>T uc001twg.1 + 5 835 c.753C>T c.(751-753)GAC>GAT p.D251D FBXW8_uc001twf.1_Silent_p.D185D|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 251 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) AATCAGAGGACGAGGAGGATG 0.517 93 220 --- --- --- --- PASS CDK2AP1 8099 broad.mit.edu 37 12 123751808 123751808 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr12:123751808G>A uc001ueq.2 - 2 599 c.77C>T c.(76-78)TCC>TTC p.S26F CDK2AP1_uc001uep.2_RNA NM_004642 NP_004633 O14519 CDKA1_HUMAN CDK2-associated protein 1 26 DNA-dependent DNA replication|protein phosphorylation|S phase of mitotic cell cycle cytoplasm|nucleus DNA binding|protein binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178) CATGCTGGTGGAAGGCGAGTG 0.612 38 66 --- --- --- --- PASS CLYBL 171425 broad.mit.edu 37 13 100518606 100518606 + Silent SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr13:100518606A>T uc001vok.2 + 6 761 c.747A>T c.(745-747)CGA>CGT p.R249R CLYBL_uc010tix.1_3'UTR|CLYBL_uc010tiy.1_Silent_p.R215R NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 249 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTGACTTTCGAGATGGAGCTG 0.468 43 30 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216294 20216294 + Missense_Mutation SNP G T T rs138111427 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr14:20216294G>T uc010tkt.1 + 1 708 c.708G>T c.(706-708)AAG>AAT p.K236N NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCAGAACAAGGTCTTCTCTA 0.483 56 404 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23895275 23895275 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr14:23895275G>T uc001wjx.2 - 19 2166 c.2060C>A c.(2059-2061)CCC>CAC p.P687H NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 687 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGACCAGGGGGTTGTCCAT 0.448 22 45 --- --- --- --- PASS CTSG 1511 broad.mit.edu 37 14 25043635 25043635 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr14:25043635C>T uc001wpq.2 - 4 447 c.410G>A c.(409-411)AGA>AAA p.R137K NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 137 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) CGTCCCGGGTCTCAGTCCCTC 0.607 69 106 --- --- --- --- PASS ZC3H14 79882 broad.mit.edu 37 14 89037457 89037457 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr14:89037457C>G uc001xww.2 + 4 449 c.224C>G c.(223-225)TCT>TGT p.S75C ZC3H14_uc010twd.1_Missense_Mutation_p.S75C|ZC3H14_uc010twe.1_Missense_Mutation_p.S75C|ZC3H14_uc001xwx.2_Missense_Mutation_p.S75C|ZC3H14_uc010twf.1_5'UTR|ZC3H14_uc001xwy.2_Missense_Mutation_p.S41C|ZC3H14_uc010twg.1_5'Flank NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 75 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 AAACTTCGCTCTGTTACAACT 0.308 51 48 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94088544 94088544 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr14:94088544C>T uc001ybv.1 + 28 4583 c.4500C>T c.(4498-4500)GGC>GGT p.G1500G KIAA1409_uc001ybs.1_Silent_p.G1478G NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1655 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGAACCAAGGCGATGACGGCC 0.552 21 62 --- --- --- --- PASS SERPINA1 5265 broad.mit.edu 37 14 94845910 94845910 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr14:94845910C>A uc001ycx.3 - 4 1217 c.956G>T c.(955-957)GGA>GTA p.G319V SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Missense_Mutation_p.G319V|SERPINA1_uc010aux.2_Missense_Mutation_p.G319V|SERPINA1_uc001ycy.3_Missense_Mutation_p.G319V|SERPINA1_uc010auy.2_Missense_Mutation_p.G319V|SERPINA1_uc001ycz.3_Missense_Mutation_p.G319V|SERPINA1_uc010auz.2_Missense_Mutation_p.G319V|SERPINA1_uc010ava.2_Missense_Mutation_p.G319V|SERPINA1_uc001ydb.3_Missense_Mutation_p.G319V|SERPINA1_uc010avb.2_Missense_Mutation_p.G319V|SERPINA1_uc001ydc.3_Missense_Mutation_p.G319V|SERPINA1_uc001yda.1_Missense_Mutation_p.G319V NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 319 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) ATCATAGGTTCCAGTAATGGA 0.522 Alpha-1-Antitrypsin_Deficiency 101 69 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27725806 27725806 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:27725806C>T uc001zbg.1 + 6 751 c.585C>T c.(583-585)CCC>CCT p.P195P GABRG3_uc001zbf.2_Silent_p.P195P NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 195 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ATGGCTATCCCAAAGAAGAAA 0.353 3 33 --- --- --- --- PASS ACTC1 70 broad.mit.edu 37 15 35085622 35085622 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:35085622T>C uc001ziu.1 - 3 521 c.278A>G c.(277-279)TAC>TGC p.Y93C uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 93 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GAGCTCATTGTAGAAGGTGTG 0.572 71 120 --- --- --- --- PASS SPTBN5 51332 broad.mit.edu 37 15 42144471 42144471 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:42144471C>T uc001zos.2 - 62 10721 c.10388G>A c.(10387-10389)GGG>GAG p.G3463E NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3498 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCCAGCTCTCCCGGGCTTCAG 0.647 8 13 --- --- --- --- PASS SPATA5L1 79029 broad.mit.edu 37 15 45697670 45697670 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:45697670G>T uc001zve.2 + 2 1351 c.1242G>T c.(1240-1242)GAG>GAT p.E414D SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 414 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) TCTGTAGGGAGGCTGCCATGC 0.428 75 84 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48063194 48063194 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:48063194A>G uc010bek.2 + 19 2794 c.2434A>G c.(2434-2436)AGT>GGT p.S812G SEMA6D_uc001zvw.2_Missense_Mutation_p.S750G|SEMA6D_uc001zvy.2_Missense_Mutation_p.S812G|SEMA6D_uc001zvz.2_Missense_Mutation_p.S756G|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.S750G|SEMA6D_uc001zwc.2_Missense_Mutation_p.S737G NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 812 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TTTTCCGTCTAGTCCGCCACC 0.502 66 117 --- --- --- --- PASS DYX1C1 161582 broad.mit.edu 37 15 55790004 55790004 + Silent SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:55790004A>G uc002adc.2 - 3 545 c.177T>C c.(175-177)GAT>GAC p.D59D CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Silent_p.D59D|DYX1C1_uc002add.2_Silent_p.D59D NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 isoform a 59 CS.|Mediates interaction with ESR1 and STUB1. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding skin(1) 1 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) TGCTGCTCTCATCGTCTATGG 0.408 101 160 --- --- --- --- PASS MIR1272 100302184 broad.mit.edu 37 15 65054705 65054705 + RNA SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:65054705T>C hsa-mir-1272|MI0006408 - c.10T>C RBPMS2_uc002anq.2_Intron 0 CGCACCCAGATCTGATCTGGC 0.493 54 94 --- --- --- --- PASS IGDCC4 57722 broad.mit.edu 37 15 65680905 65680905 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:65680905C>A uc002aou.1 - 16 2937 c.2727G>T c.(2725-2727)GAG>GAT p.E909D IGDCC4_uc002aot.1_Missense_Mutation_p.E497D NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 909 Extracellular (Potential).|Fibronectin type-III 5. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GGCCATGGACCTCAGCACTGA 0.637 67 122 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68603377 68603377 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:68603377G>A uc002ari.2 - 26 3216 c.3129C>T c.(3127-3129)TAC>TAT p.Y1043Y ITGA11_uc010bib.2_Silent_p.Y1044Y NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 1043 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GGGTGGGCCGGTACTCAGTGC 0.587 9 18 --- --- --- --- PASS PKM2 5315 broad.mit.edu 37 15 72499082 72499082 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr15:72499082C>A uc002atx.1 - 8 1368 c.1127G>T c.(1126-1128)CGC>CTC p.R376L PKM2_uc002ats.1_Missense_Mutation_p.R43L|PKM2_uc002att.1_Missense_Mutation_p.R142L|PKM2_uc002atu.1_Missense_Mutation_p.R142L|PKM2_uc010bit.1_Missense_Mutation_p.R381L|PKM2_uc010uki.1_Missense_Mutation_p.R450L|PKM2_uc002atv.1_Missense_Mutation_p.R411L|PKM2_uc002atw.1_Missense_Mutation_p.R376L|PKM2_uc002aty.1_Missense_Mutation_p.R376L|PKM2_uc010ukj.1_Missense_Mutation_p.R361L|PKM2_uc010ukk.1_Missense_Mutation_p.R302L|PKM2_uc010biu.1_Missense_Mutation_p.R397L|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 376 Interaction with POU5F1. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) GTGCTGCATGCGCACAGCCTC 0.592 39 63 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3828022 3828022 + Silent SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr16:3828022C>T uc002cvv.2 - 10 2307 c.2103G>A c.(2101-2103)GTG>GTA p.V701V CREBBP_uc002cvw.2_Silent_p.V663V NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 701 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTGGAGGTCTCACAGGTTGTG 0.502 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 103 74 --- --- --- --- PASS CRYM 1428 broad.mit.edu 37 16 21281170 21281170 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr16:21281170C>A uc002dik.2 - 4 515 c.430G>T c.(430-432)GCT>TCT p.A144S CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.A102S|CRYM_uc002dim.2_Missense_Mutation_p.A144S NM_001888 NP_001879 Q14894 CRYM_HUMAN crystallin, mu isoform 1 144 NADP. negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity 0 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) TGGACCCCAGCCCCAAGGATG 0.527 46 40 --- --- --- --- PASS TEPP 374739 broad.mit.edu 37 16 58011824 58011824 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr16:58011824C>A uc002emw.3 + 2 306 c.269C>A c.(268-270)GCG>GAG p.A90E TEPP_uc002emv.3_Missense_Mutation_p.A90E NM_199456 NP_955535 Q6URK8 TEPP_HUMAN testis/prostate/placenta-expressed protein 90 extracellular region kidney(1)|central_nervous_system(1)|skin(1) 3 AACCAGCTGGCGGGCGTGAAG 0.657 51 19 --- --- --- --- PASS FANCA 2175 broad.mit.edu 37 16 89809333 89809333 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr16:89809333C>G uc002fou.1 - 37 3682 c.3640G>C c.(3640-3642)GAG>CAG p.E1214Q FANCA_uc010vpn.1_Missense_Mutation_p.E1214Q|FANCA_uc010vpo.1_Missense_Mutation_p.E300Q NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1214 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GAGGCAGCCTCAGGGGAGAGG 0.542 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 48 22 --- --- --- --- PASS KIF1C 10749 broad.mit.edu 37 17 4910576 4910576 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:4910576G>C uc002gan.1 + 15 1680 c.1354G>C c.(1354-1356)GCT>CCT p.A452P NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 452 Potential. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 GAAGATTATAGCTGAGCTGAA 0.582 13 7 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:7578272G>C uc002gim.2 - 6 771 c.577C>G c.(577-579)CAT>GAT p.H193D TP53_uc002gig.1_Missense_Mutation_p.H193D|TP53_uc002gih.2_Missense_Mutation_p.H193D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61D|TP53_uc010cng.1_Missense_Mutation_p.H61D|TP53_uc002gii.1_Missense_Mutation_p.H61D|TP53_uc010cnh.1_Missense_Mutation_p.H193D|TP53_uc010cni.1_Missense_Mutation_p.H193D|TP53_uc002gij.2_Missense_Mutation_p.H193D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100D|TP53_uc002gio.2_Missense_Mutation_p.H61D|TP53_uc010vug.1_Missense_Mutation_p.H154D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(67)|p.H193L(29)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191fs*53(2)|p.H193H(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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) CGGATAAGATGCTGAGGAGGG 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) 43 23 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10431192 10431192 + Splice_Site SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:10431192C>G uc010coi.2 - 28 3873 c.3745_splice c.e28-1 p.G1249_splice uc002gml.1_Intron|MYH2_uc002gmp.3_Splice_Site_p.G1249_splice|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTAGGTTTCCCTATAGAAGAA 0.398 94 39 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18023903 18023903 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:18023903G>C uc010vxh.1 + 2 2127 c.1789G>C c.(1789-1791)GCG>CCG p.A597P NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 597 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GAAGGCCCGGGCGGGCGGCCC 0.697 5 1 --- --- --- --- PASS FBXO47 494188 broad.mit.edu 37 17 37119235 37119235 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:37119235T>C uc002hrc.2 - 2 244 c.44A>G c.(43-45)CAG>CGG p.Q15R NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN F-box protein 47 15 0 TCTAAGTTTCTGGTTGGGAAT 0.373 137 65 --- --- --- --- PASS CDC42EP4 23580 broad.mit.edu 37 17 71281876 71281876 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:71281876T>C uc002jjn.2 - 2 911 c.764A>G c.(763-765)TAC>TGC p.Y255C CDC42EP4_uc002jjo.2_Missense_Mutation_p.Y255C|CDC42EP4_uc002jjp.1_Missense_Mutation_p.Y185C NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 255 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CGCCACGGCGTACGGGGGAGC 0.687 10 10 --- --- --- --- PASS DSC1 1823 broad.mit.edu 37 18 28721973 28721973 + Missense_Mutation SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr18:28721973A>G uc002kwn.2 - 9 1511 c.1249T>C c.(1249-1251)TGT>CGT p.C417R DSC1_uc002kwm.2_Missense_Mutation_p.C417R NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 417 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTGACAACACACAGCACTCCT 0.323 39 117 --- --- --- --- PASS MAPRE2 10982 broad.mit.edu 37 18 32677486 32677486 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr18:32677486G>A uc002kyg.2 + 3 507 c.327G>A c.(325-327)AAG>AAA p.K109K MAPRE2_uc010xcb.1_Silent_p.K66K|MAPRE2_uc010xcc.1_Silent_p.K97K|MAPRE2_uc002kyf.2_Silent_p.K109K|MAPRE2_uc002kyh.2_Silent_p.K56K|MAPRE2_uc010xcd.1_Silent_p.K66K NM_014268 NP_055083 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, 109 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding ovary(1) 1 TTCAAGCAAAGCTGGAACATG 0.378 44 58 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67741225 67741225 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr18:67741225C>A uc002lkp.2 - 34 4638 c.4570G>T c.(4570-4572)GAT>TAT p.D1524Y RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.D612Y NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1524 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) AATGAGTCATCTAAACCTGCA 0.413 35 64 --- --- --- --- PASS TLE2 7089 broad.mit.edu 37 19 3006571 3006571 + Silent SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:3006571C>A uc002lww.2 - 15 1610 c.1347G>T c.(1345-1347)CGG>CGT p.R449R TLE2_uc010xhb.1_Silent_p.R116R|TLE2_uc010dth.2_Silent_p.R450R|TLE2_uc010xhc.1_Silent_p.R327R|TLE2_uc010dti.2_Silent_p.R463R|TLE2_uc010xhd.1_Silent_p.R357R NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 449 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) TGTGCAGCTGCCGGGCGTGCC 0.682 4 5 --- --- --- --- PASS TLE2 7089 broad.mit.edu 37 19 3006572 3006572 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:3006572C>G uc002lww.2 - 15 1609 c.1346G>C c.(1345-1347)CGG>CCG p.R449P TLE2_uc010xhb.1_Missense_Mutation_p.R116P|TLE2_uc010dth.2_Missense_Mutation_p.R450P|TLE2_uc010xhc.1_Missense_Mutation_p.R327P|TLE2_uc010dti.2_Missense_Mutation_p.R463P|TLE2_uc010xhd.1_Missense_Mutation_p.R357P NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 449 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) GTGCAGCTGCCGGGCGTGCCG 0.682 4 5 --- --- --- --- PASS C3 718 broad.mit.edu 37 19 6707088 6707088 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:6707088C>A uc002mfm.2 - 17 2306 c.2244G>T c.(2242-2244)AGG>AGT p.R748S NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 748 Cleavage; by C3 convertase. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGGACCTACTCCTGGCCAGGC 0.697 16 20 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9090002 9090002 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:9090002C>A uc002mkp.2 - 1 2017 c.1813G>T c.(1813-1815)GTT>TTT p.V605F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 605 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 CCAGTGGGAACAGCAAACTGA 0.547 30 73 --- --- --- --- PASS ZNF700 90592 broad.mit.edu 37 19 12060436 12060436 + Missense_Mutation SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:12060436G>C uc002msu.2 + 4 1723 c.1597G>C c.(1597-1599)GAG>CAG p.E533Q ZNF700_uc010xme.1_Missense_Mutation_p.E551Q|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCACACTGGAGAGAAACCCTA 0.398 58 89 --- --- --- --- PASS CCDC123 84902 broad.mit.edu 37 19 33424558 33424558 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:33424558G>A uc002nty.2 - 8 774 c.685C>T c.(685-687)CGT>TGT p.R229C CCDC123_uc002ntx.2_Translation_Start_Site|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.R229C|CCDC123_uc002nua.2_Missense_Mutation_p.R229C NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 229 centrosome|spindle pole 0 Esophageal squamous(110;0.137) TATCTTTGACGTGCTCTACCA 0.318 75 166 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36330456 36330456 + Missense_Mutation SNP C A A rs114849139 by1000genomes TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:36330456C>A uc002oby.2 - 21 2869 c.2869G>T c.(2869-2871)GTG>TTG p.V957L NPHS1_uc010eem.1_5'Flank NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 957 Fibronectin type-III.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCAGCCCCACGGAGTGTGGG 0.572 36 90 --- --- --- --- PASS GMFG 9535 broad.mit.edu 37 19 39819164 39819164 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:39819164C>T uc002okz.3 - 7 492 c.382G>A c.(382-384)GAC>AAC p.D128N GMFG_uc002okx.3_3'UTR NM_004877 NP_004868 O60234 GMFG_HUMAN glia maturation factor, gamma 128 ADF-H. protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity skin(1) 1 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TCAGTGAGGTCATCAGTGGTG 0.448 41 167 --- --- --- --- PASS EXOC3L2 90332 broad.mit.edu 37 19 45731017 45731017 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:45731017C>A uc002pay.1 - 5 348 c.307G>T c.(307-309)GTG>TTG p.V103L NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 103 ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) AATCGCTCCACACGCTGCTGG 0.632 13 6 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52723042 52723042 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:52723042G>T uc002pyp.2 + 10 1386 c.1227G>T c.(1225-1227)GTG>GTT p.V409V PPP2R1A_uc010ydk.1_Silent_p.V354V|PPP2R1A_uc002pyq.2_Silent_p.V230V NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 409 HEAT 11.|PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CTGCCATTGTGGAGCTGGCTG 0.622 Mis clear cell ovarian carcinoma 5 45 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52723043 52723043 + Nonsense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:52723043G>T uc002pyp.2 + 10 1387 c.1228G>T c.(1228-1230)GAG>TAG p.E410* PPP2R1A_uc010ydk.1_Nonsense_Mutation_p.E355*|PPP2R1A_uc002pyq.2_Nonsense_Mutation_p.E231* NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 410 HEAT 11.|PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TGCCATTGTGGAGCTGGCTGA 0.627 Mis clear cell ovarian carcinoma 4 47 --- --- --- --- PASS PPP1R12C 54776 broad.mit.edu 37 19 55602904 55602904 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:55602904T>A uc002qix.2 - 22 2301 c.2285A>T c.(2284-2286)GAC>GTC p.D762V PPP1R12C_uc010yfs.1_Missense_Mutation_p.D687V|PPP1R12C_uc002qiy.2_Missense_Mutation_p.D760V NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 762 Potential. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GCGCTGGTTGTCAGCGCGGAG 0.647 29 11 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56520216 56520216 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:56520216C>T uc002qmj.2 + 3 505 c.505C>T c.(505-507)CCA>TCA p.P169S NLRP5_uc002qmi.2_Missense_Mutation_p.P169S NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 169 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GGAAAAAGTGCCAGGTTAGAG 0.294 3 22 --- --- --- --- PASS SLC27A5 10998 broad.mit.edu 37 19 59012686 59012686 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr19:59012686G>A uc002qtc.2 - 4 1259 c.1149C>T c.(1147-1149)GGC>GGT p.G383G SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 383 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GCAGGAGCTCGCCCACATACA 0.542 6 199 --- --- --- --- PASS CPXM1 56265 broad.mit.edu 37 20 2774852 2774852 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr20:2774852C>A uc002wgu.2 - 14 2253 c.2189G>T c.(2188-2190)AGG>ATG p.R730M CPXM1_uc010gas.2_Missense_Mutation_p.R656M NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 730 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 CTTCTGTCCCCTTAGCCGCTC 0.607 45 83 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20180530 20180530 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr20:20180530C>T uc002wru.2 + 17 1992 c.1916C>T c.(1915-1917)GCG>GTG p.A639V C20orf26_uc010zse.1_Missense_Mutation_p.A619V NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 639 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCATCAAAGGCGGTCTCCAAG 0.617 62 146 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20269293 20269293 + Missense_Mutation SNP C T T rs140045830 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr20:20269293C>T uc002wru.2 + 23 2913 c.2837C>T c.(2836-2838)ACG>ATG p.T946M C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 946 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GATTATGAAACGTTTAAAGCC 0.408 146 328 --- --- --- --- PASS CST8 10047 broad.mit.edu 37 20 23472353 23472353 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr20:23472353G>T uc002wth.1 + 2 406 c.49G>T c.(49-51)GCC>TCC p.A17S NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 17 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) CATTCCCCTGGCCCTGGTGGC 0.567 74 162 --- --- --- --- PASS NPBWR2 2832 broad.mit.edu 37 20 62737573 62737573 + Silent SNP G C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr20:62737573G>C uc011abt.1 - 1 612 c.612C>G c.(610-612)CCC>CCG p.P204P NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 204 Extracellular (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AGACCTGCTCGGGCCACGGGA 0.627 13 22 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22804589 22804589 + Missense_Mutation SNP C A A rs35592118 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr21:22804589C>A uc002yld.1 + 12 1891 c.1642C>A c.(1642-1644)CAT>AAT p.H548N NCAM2_uc011acb.1_Missense_Mutation_p.H406N NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 548 Fibronectin type-III 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TGTACGCTCCCATGGAGTTCA 0.408 53 23 --- --- --- --- PASS GRIK1 2897 broad.mit.edu 37 21 31023582 31023582 + Silent SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr21:31023582A>G uc002yno.1 - 6 1274 c.810T>C c.(808-810)TAT>TAC p.Y270Y GRIK1_uc002ynn.2_Silent_p.Y270Y|GRIK1_uc011acs.1_Silent_p.Y270Y|GRIK1_uc011act.1_Silent_p.Y214Y|GRIK1_uc010glq.1_Silent_p.Y128Y|GRIK1_uc002ynr.2_Silent_p.Y270Y NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 270 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CACTGTACCTATAGAGTTCCA 0.383 61 23 --- --- --- --- PASS XKR3 150165 broad.mit.edu 37 22 17264895 17264895 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr22:17264895C>T uc002zlv.2 - 4 1092 c.994G>A c.(994-996)GAC>AAC p.D332N XKR3_uc011agf.1_Missense_Mutation_p.D332N NM_175878 NP_787074 Q5GH77 XKR3_HUMAN X Kell blood group precursor-related family, 332 integral to membrane|plasma membrane large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATTATTTTGTCATCTGACAAC 0.408 70 200 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26164516 26164516 + Silent SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr22:26164516G>A uc003abz.1 + 4 883 c.633G>A c.(631-633)CCG>CCA p.P211P MYO18B_uc003aca.1_Silent_p.P92P|MYO18B_uc010guy.1_Silent_p.P92P|MYO18B_uc010guz.1_Silent_p.P92P|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 211 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 TCTTGGCCCCGAAAGCTGAGA 0.597 14 9 --- --- --- --- PASS OSBP2 23762 broad.mit.edu 37 22 31289967 31289967 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr22:31289967T>C uc003aiy.1 + 12 2458 c.2354T>C c.(2353-2355)CTG>CCG p.L785P OSBP2_uc011ala.1_Missense_Mutation_p.L619P|OSBP2_uc010gwc.1_Missense_Mutation_p.L612P|OSBP2_uc011alb.1_Missense_Mutation_p.L736P|OSBP2_uc003aiz.1_Missense_Mutation_p.L784P|OSBP2_uc003aja.1_Missense_Mutation_p.L418P|OSBP2_uc011alc.1_Missense_Mutation_p.L527P|OSBP2_uc003ajb.2_Missense_Mutation_p.L330P|OSBP2_uc011ald.1_Missense_Mutation_p.L329P|OSBP2_uc010gwd.1_Intron NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 785 lipid transport membrane lipid binding breast(1)|skin(1) 2 GCCAAGCTGCTGTGGAAGAAG 0.592 4 8 --- --- --- --- PASS CERK 64781 broad.mit.edu 37 22 47087573 47087573 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr22:47087573C>G uc003bia.2 - 11 1335 c.1228G>C c.(1228-1230)GCT>CCT p.A410P CERK_uc010hae.2_Missense_Mutation_p.A212P NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 410 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) AAGTGGGCAGCCGGGGAGAGG 0.572 30 43 --- --- --- --- PASS GPR143 4935 broad.mit.edu 37 X 9728759 9728759 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:9728759C>G uc004cst.1 - 2 418 c.418G>C c.(418-420)GCG>CCG p.A140P NM_000273 NP_000264 P51810 GP143_HUMAN G protein-coupled receptor 143 120 Extracellular (Potential). calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding ovary(1) 1 Hepatocellular(5;0.000888) GGACTCACCGCACTCCCCACG 0.393 7 21 --- --- --- --- PASS CLCN4 1183 broad.mit.edu 37 X 10182002 10182002 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:10182002G>A uc004csy.3 + 11 2288 c.1858G>A c.(1858-1860)GAG>AAG p.E620K CLCN4_uc011mid.1_Missense_Mutation_p.E526K NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 620 CBS 1.|Cytoplasmic (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CATGACTGTCGAGGACGTGGA 0.632 7 84 --- --- --- --- PASS AMELX 265 broad.mit.edu 37 X 11316790 11316790 + Silent SNP A G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:11316790A>G uc004cut.2 + 5 335 c.267A>G c.(265-267)CCA>CCG p.P89P ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Silent_p.P103P|AMELX_uc004cuu.2_Silent_p.P73P NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 89 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel 0 CAGTGGTGCCAGCTCAGCAGC 0.622 79 199 --- --- --- --- PASS EGFL6 25975 broad.mit.edu 37 X 13651197 13651197 + Missense_Mutation SNP T G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:13651197T>G uc004cvi.2 + 12 1885 c.1645T>G c.(1645-1647)TTA>GTA p.L549V EGFL6_uc004cvj.2_Missense_Mutation_p.L550V NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 549 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 AGATAGCCTTTTATCTGTGGA 0.398 9 263 --- --- --- --- PASS PHEX 5251 broad.mit.edu 37 X 22245715 22245715 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:22245715T>C uc004dah.2 + 20 2260 c.2057T>C c.(2056-2058)CTG>CCG p.L686P PHEX_uc011mjr.1_Missense_Mutation_p.L686P|PHEX_uc011mjs.1_Missense_Mutation_p.L589P NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 686 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 CTCTTCTTCCTGAGTTATGCT 0.458 104 138 --- --- --- --- PASS PDK3 5165 broad.mit.edu 37 X 24483633 24483633 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:24483633C>T uc004dbg.2 + 1 290 c.61C>T c.(61-63)CGC>TGC p.R21C PDK3_uc004dbh.2_Missense_Mutation_p.R21C NM_005391 NP_005382 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase 3 isoform 2 21 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GCGCTACTCGCGCTTTTCGCC 0.697 13 27 --- --- --- --- PASS CYBB 1536 broad.mit.edu 37 X 37663354 37663354 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:37663354G>T uc004ddr.2 + 9 1183 c.1122G>T c.(1120-1122)CAG>CAT p.Q374H CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.Q342H|CYBB_uc011mkg.1_Missense_Mutation_p.Q107H NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 374 Cytoplasmic (Potential).|FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GTGATAAGCAGGAGTTTCAAG 0.453 61 121 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37969625 37969625 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:37969625T>A uc004ddu.2 + 14 2020 c.1486T>A c.(1486-1488)TGG>AGG p.W496R SYTL5_uc004ddv.2_Missense_Mutation_p.W496R|SYTL5_uc004ddx.2_Missense_Mutation_p.W518R NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 496 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 GCTCTCAGTCTGGCACTATGA 0.448 175 194 --- --- --- --- PASS PORCN 64840 broad.mit.edu 37 X 48372703 48372703 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:48372703G>T uc010nie.1 + 9 953 c.795G>T c.(793-795)ACG>ACT p.T265T PORCN_uc004djr.1_Silent_p.T260T|PORCN_uc004djs.1_Silent_p.T254T|PORCN_uc004djt.1_Silent_p.T183T|PORCN_uc011mlx.1_Silent_p.T183T|PORCN_uc004dju.1_Silent_p.T123T|PORCN_uc004djv.1_Silent_p.T265T|PORCN_uc004djw.1_Silent_p.T259T NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 265 Helical; (Potential). Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 CCGAGGCCACGGCCACGTTGG 0.627 68 77 --- --- --- --- PASS TBC1D25 4943 broad.mit.edu 37 X 48418069 48418069 + Missense_Mutation SNP T A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:48418069T>A uc004dka.1 + 6 884 c.773T>A c.(772-774)ATG>AAG p.M258K TBC1D25_uc011mly.1_Missense_Mutation_p.M200K|TBC1D25_uc004dkb.1_Missense_Mutation_p.M4K|TBC1D25_uc011mlz.1_Missense_Mutation_p.M4K|TBC1D25_uc011mma.1_Missense_Mutation_p.M4K|TBC1D25_uc004dkc.1_Missense_Mutation_p.M4K|TBC1D25_uc011mmb.1_Missense_Mutation_p.M262K|TBC1D25_uc011mmc.1_Missense_Mutation_p.M4K|TBC1D25_uc011mmd.1_Missense_Mutation_p.M4K NM_002536 NP_002527 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 258 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1) 1 ATGGACTACATGAAACGCAAG 0.592 43 66 --- --- --- --- PASS CACNA1F 778 broad.mit.edu 37 X 49074999 49074999 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:49074999G>A uc004dnb.2 - 24 2938 c.2876C>T c.(2875-2877)TCC>TTC p.S959F CACNA1F_uc010nip.2_Missense_Mutation_p.S948F NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 959 III.|Extracellular (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) GATGGCGCTGGAGCTGGGGAA 0.622 7 26 --- --- --- --- PASS FAM120C 54954 broad.mit.edu 37 X 54161493 54161493 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:54161493C>G uc004dsz.3 - 7 1470 c.1387G>C c.(1387-1389)GGA>CGA p.G463R FAM120C_uc011moh.1_Missense_Mutation_p.G463R NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 463 ovary(1)|central_nervous_system(1) 2 GAGTTGGGTCCCACTGGGAAT 0.458 62 73 --- --- --- --- PASS ZC3H12B 340554 broad.mit.edu 37 X 64721936 64721936 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:64721936T>C uc010nko.2 + 5 1334 c.1325T>C c.(1324-1326)ATT>ACT p.I442T NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 442 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 TGGCTGTCCATTGCCCGTAAG 0.567 19 21 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83362666 83362666 + Missense_Mutation SNP C G G TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:83362666C>G uc004eej.1 - 13 1153 c.1076G>C c.(1075-1077)TGT>TCT p.C359S RPS6KA6_uc011mqt.1_Missense_Mutation_p.C359S|RPS6KA6_uc011mqu.1_Missense_Mutation_p.C256S NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 359 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 AGGATCAAAACAAAAAGTATC 0.299 3 77 --- --- --- --- PASS NAP1L3 4675 broad.mit.edu 37 X 92927456 92927456 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:92927456C>A uc004efq.2 - 1 1153 c.848G>T c.(847-849)AGA>ATA p.R283I FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 283 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 CTCAGGAACTCTTTTATGAGT 0.453 107 129 --- --- --- --- PASS CENPI 2491 broad.mit.edu 37 X 100402956 100402956 + Missense_Mutation SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:100402956A>T uc004egx.2 + 19 2170 c.1900A>T c.(1900-1902)AGC>TGC p.S634C CENPI_uc011mrg.1_Missense_Mutation_p.S634C NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 634 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 CAATTTCAGCAGCAAGACTTA 0.358 89 133 --- --- --- --- PASS MUM1L1 139221 broad.mit.edu 37 X 105449901 105449901 + Missense_Mutation SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:105449901A>T uc004emf.1 + 4 1125 c.476A>T c.(475-477)GAG>GTG p.E159V MUM1L1_uc004emg.1_Missense_Mutation_p.E159V NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 159 ovary(2)|pancreas(1)|skin(1) 4 GCATCTTCAGAGAGTGATGAT 0.428 20 47 --- --- --- --- PASS VSIG1 340547 broad.mit.edu 37 X 107316490 107316490 + Silent SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:107316490C>A uc004eno.2 + 5 740 c.579C>A c.(577-579)ACC>ACA p.T193T VSIG1_uc011msk.1_Silent_p.T229T NM_182607 NP_872413 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 193 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 ACCCAACCACCGGGATTTTGG 0.428 146 377 --- --- --- --- PASS LONRF3 79836 broad.mit.edu 37 X 118124510 118124510 + Missense_Mutation SNP G A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:118124510G>A uc004eqw.2 + 5 1433 c.1402G>A c.(1402-1404)GCT>ACT p.A468T LONRF3_uc004eqx.2_Missense_Mutation_p.A427T|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.A212T NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 468 RING-type 2. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CCTTGAATGCGCTCTATGTAT 0.468 86 115 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118222607 118222607 + Silent SNP A C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:118222607A>C uc004era.3 - 11 2586 c.2586T>G c.(2584-2586)ACT>ACG p.T862T NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 862 ovary(4)|skin(1) 5 AATCATCAGAAGTGTTGTACT 0.498 24 45 --- --- --- --- PASS SEPT6 23157 broad.mit.edu 37 X 118763348 118763348 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:118763348G>T uc004erv.2 - 9 1478 c.1213C>A c.(1213-1215)CTG>ATG p.L405M SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.L405M|SEPT6_uc004ert.2_Missense_Mutation_p.L405M|SEPT6_uc004eru.2_Missense_Mutation_p.L405M|SEPT6_uc004erw.2_Missense_Mutation_p.L347M|SEPT6_uc011mtv.1_Missense_Mutation_p.L347M|SEPT6_uc011mtw.1_Missense_Mutation_p.L435M NM_015129 NP_055944 Q14141 SEPT6_HUMAN septin 6 isoform B 405 Potential. cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding lung(1)|ovary(1)|prostate(1)|kidney(1) 4 GACTGGAGCAGCTCAGCCGCC 0.512 115 134 --- --- --- --- PASS ENOX2 10495 broad.mit.edu 37 X 129837178 129837178 + Missense_Mutation SNP T C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:129837178T>C uc004evw.2 - 5 518 c.100A>G c.(100-102)ATG>GTG p.M34V ENOX2_uc004evx.2_Missense_Mutation_p.M5V|ENOX2_uc004evy.2_Missense_Mutation_p.M5V NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 34 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 GGATCAGACATAGGTAGTGTC 0.403 57 164 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130218282 130218282 + Missense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:130218282C>A uc004evz.2 + 5 994 c.649C>A c.(649-651)CAA>AAA p.Q217K ARHGAP36_uc004ewa.2_Missense_Mutation_p.Q205K|ARHGAP36_uc004ewb.2_Missense_Mutation_p.Q186K|ARHGAP36_uc004ewc.2_Missense_Mutation_p.Q81K NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 217 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 TCCAATTGGCCAACGACTTCT 0.498 28 69 --- --- --- --- PASS ZNF75D 7626 broad.mit.edu 37 X 134427658 134427658 + Missense_Mutation SNP C T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:134427658C>T uc004eyp.2 - 3 3064 c.409G>A c.(409-411)GAG>AAG p.E137K ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'Flank|ZNF75D_uc004eyo.2_Missense_Mutation_p.E137K NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 137 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTTCTTACCTCATTCTTTGTT 0.438 110 94 --- --- --- --- PASS MAMLD1 10046 broad.mit.edu 37 X 149638838 149638838 + Silent SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:149638838G>T uc004fee.1 + 3 1069 c.993G>T c.(991-993)CTG>CTT p.L331L MAMLD1_uc011mxt.1_Silent_p.L293L|MAMLD1_uc011mxu.1_Silent_p.L306L|MAMLD1_uc011mxv.1_Silent_p.L306L|MAMLD1_uc011mxw.1_Silent_p.L258L NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 331 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) GGTCTGGTCTGCCTCCTCCAG 0.488 30 66 --- --- --- --- PASS MTMR1 8776 broad.mit.edu 37 X 149895709 149895709 + Nonsense_Mutation SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:149895709C>A uc004fei.2 + 4 486 c.351C>A c.(349-351)TGC>TGA p.C117* MTMR1_uc011mya.1_Nonsense_Mutation_p.C23*|MTMR1_uc004feg.1_Nonsense_Mutation_p.C117*|MTMR1_uc004feh.1_Nonsense_Mutation_p.C125*|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_RNA NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 117 GRAM. plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TGTATATCTGCCCATTTATGG 0.368 61 87 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151821678 151821678 + Silent SNP C A A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:151821678C>A uc004ffp.1 + 9 1853 c.1833C>A c.(1831-1833)TCC>TCA p.S611S NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 611 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ACAAGTGGTCCCGGTTCCTCT 0.527 116 128 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153577267 153577267 + Missense_Mutation SNP A T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:153577267A>T uc004fkk.2 - 48 8143 c.7894T>A c.(7894-7896)TGG>AGG p.W2632R FLNA_uc004fki.2_Missense_Mutation_p.W672R|FLNA_uc011mzn.1_Missense_Mutation_p.W765R|FLNA_uc010nuu.1_Missense_Mutation_p.W2624R NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2632 Self-association site, tail.|Filamin 24. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCGTCCCCCCATTTGACCACC 0.667 50 60 --- --- --- --- PASS MPP1 4354 broad.mit.edu 37 X 154009998 154009998 + Missense_Mutation SNP G T T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chrX:154009998G>T uc004fmp.1 - 10 1141 c.1026C>A c.(1024-1026)AAC>AAA p.N342K MPP1_uc010nvg.1_Missense_Mutation_p.N322K|MPP1_uc011mzv.1_Missense_Mutation_p.N312K|MPP1_uc004fmq.1_Missense_Mutation_p.N296K|MPP1_uc011mzw.1_Missense_Mutation_p.N325K NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 342 Guanylate kinase-like.|Interaction with MPP5. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGCAGAGATGTTCCTCGTCA 0.468 166 207 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43190552 43190552 + Frame_Shift_Del DEL C - - TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr6:43190552delC uc003ouk.2 + 38 7143 c.7068delC c.(7066-7068)AGCfs p.S2356fs CUL9_uc003oul.2_Frame_Shift_Del_p.S2328fs|CUL9_uc010jyk.2_Frame_Shift_Del_p.S1508fs|CUL9_uc003oun.2_Frame_Shift_Del_p.S151fs NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2356 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GCTTCTACAGCCAGGACGCAG 0.627 106 52 --- --- --- --- LCN8 138307 broad.mit.edu 37 9 139651601 139651602 + Frame_Shift_Ins INS - C C TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr9:139651601_139651602insC uc004cjb.1 - 2 392_393 c.43_44insG c.(43-45)GAAfs p.E15fs LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Frame_Shift_Ins_p.E15fs NM_178469 NP_848564 Q6JVE9 LCN8_HUMAN lipocalin 8 38 transport extracellular region binding pancreas(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) CACACCGACTTCCCTCCAGAAT 0.624 13 17 --- --- --- --- OR4D6 219983 broad.mit.edu 37 11 59225269 59225269 + Frame_Shift_Del DEL C - - TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr11:59225269delC uc010rku.1 + 1 836 c.836delC c.(835-837)ACCfs p.T279fs NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 279 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACGGTCATTACCCCCATGCTG 0.502 252 112 --- --- --- --- NEURL4 84461 broad.mit.edu 37 17 7231109 7231109 + Frame_Shift_Del DEL C - - TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:7231109delC uc002gga.1 - 2 384 c.377delG c.(376-378)GGCfs p.G126fs NEURL4_uc002ggb.1_Frame_Shift_Del_p.G126fs|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 126 NHR 1. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 TACCCACGAGCCCCCCTTCAG 0.622 26 50 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77808241 77808249 + In_Frame_Del DEL GTGGTGGTG - - rs3833850 TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ee6cc68e-8d2a-41ee-82c6-0fecdf7e6259 7efd4b88-beed-4e5e-b434-2bc0103084e6 g.chr17:77808241_77808249delGTGGTGGTG uc002jxe.2 - 5 1355_1363 c.1192_1200delCACCACCAC c.(1192-1200)CACCACCACdel p.HHH398del NM_003655 NP_003646 O00257 CBX4_HUMAN chromobox homolog 4 398_400 His-rich.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity skin(2) 2 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCCGACGGCgtggtggtggtggtggtgg 0.512 13 6 --- --- --- ---