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 KLHL17 339451 broad.mit.edu 37 1 898253 898253 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:898253G>A uc001aca.1 + 6 1105 c.998G>A c.(997-999)CGT>CAT p.R333H KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Missense_Mutation_p.R56H NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 333 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGCCGCACACGTCCCCGGCGC 0.672 17 42 --- --- --- --- PASS B3GALT6 126792 broad.mit.edu 37 1 1168415 1168415 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:1168415G>A uc001adk.2 + 1 787 c.757G>A c.(757-759)GAC>AAC p.D253N SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank NM_080605 NP_542172 Q96L58 B3GT6_HUMAN beta-1,3-galactosyltransferase 6 253 Lumenal (Potential). glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGCGCCGGTGGACGTCCAGCG 0.692 11 7 --- --- --- --- PASS PUSL1 126789 broad.mit.edu 37 1 1245137 1245137 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:1245137G>A uc001aed.2 + 5 580 c.550G>A c.(550-552)GCT>ACT p.A184T ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'Flank|PUSL1_uc010nyi.1_Missense_Mutation_p.A23T|PUSL1_uc009vjx.2_5'UTR NM_153339 NP_699170 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 184 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTTCCAGTCCGCTGGCAGCCC 0.687 4 14 --- --- --- --- PASS PIK3CD 5293 broad.mit.edu 37 1 9777668 9777668 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:9777668C>T uc001aqb.3 + 8 1212 c.1004C>T c.(1003-1005)GCC>GTC p.A335V PIK3CD_uc010oaf.1_Missense_Mutation_p.A335V|PIK3CD_uc001aqe.3_Missense_Mutation_p.A300V NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 335 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) AAAGTGAACGCCGACGAGCGG 0.602 19 50 --- --- --- --- PASS PIK3CD 5293 broad.mit.edu 37 1 9787039 9787039 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:9787039C>T uc001aqb.3 + 24 3278 c.3070C>T c.(3070-3072)CGT>TGT p.R1024C PIK3CD_uc010oaf.1_Missense_Mutation_p.R1023C|PIK3CD_uc001aqe.3_Missense_Mutation_p.R1048C NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 1024 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CGAAGCCCTCCGTGAGAGCTG 0.577 9 65 --- --- --- --- PASS CASZ1 54897 broad.mit.edu 37 1 10715863 10715863 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:10715863G>A uc001aro.2 - 9 1828 c.1508C>T c.(1507-1509)ACG>ATG p.T503M CASZ1_uc001arp.1_Missense_Mutation_p.T503M|CASZ1_uc009vmx.2_Missense_Mutation_p.T527M NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CTGCTTACTCGTGAACCTCTG 0.632 21 94 --- --- --- --- PASS UBXN11 91544 broad.mit.edu 37 1 26608936 26608936 + Nonsense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:26608936G>A uc001blw.2 - 16 1690 c.1417C>T c.(1417-1419)CGA>TGA p.R473* UBXN11_uc001blz.1_Nonsense_Mutation_p.R440*|UBXN11_uc001blv.2_Nonsense_Mutation_p.R435*|UBXN11_uc001bly.2_Nonsense_Mutation_p.R353*|UBXN11_uc001blx.2_Nonsense_Mutation_p.R231*|UBXN11_uc001bma.2_Nonsense_Mutation_p.R440*|UBXN11_uc001bmb.1_Nonsense_Mutation_p.R473* NM_183008 NP_892120 Q5T124 UBX11_HUMAN socius isoform 2 473 cytoplasm|cytoskeleton ovary(1) 1 TTCGGGGCTCGGCGTGCCCGC 0.388 71 92 --- --- --- --- PASS SF3A3 10946 broad.mit.edu 37 1 38435242 38435242 + Splice_Site SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:38435242C>G uc001cci.2 - 13 1294 c.1170_splice c.e13+1 p.K390_splice SF3A3_uc010oik.1_Splice_Site_p.K337_splice NM_006802 NP_006793 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTGAGACTTACTTTGCCATCC 0.418 34 85 --- --- --- --- PASS FOXJ3 22887 broad.mit.edu 37 1 42654556 42654556 + Silent SNP A C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:42654556A>C uc001che.2 - 13 1809 c.1497T>G c.(1495-1497)TCT>TCG p.S499S FOXJ3_uc001chf.2_Silent_p.S499S|FOXJ3_uc001chg.2_Silent_p.S499S NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 499 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTGGTCTAAAGACCAGTTCT 0.368 39 53 --- --- --- --- PASS CC2D1B 200014 broad.mit.edu 37 1 52824024 52824024 + Silent SNP C A A rs140467530 byFrequency TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:52824024C>A uc001ctq.1 - 13 1578 c.1440G>T c.(1438-1440)CCG>CCT p.P480P CC2D1B_uc001ctr.2_Silent_p.P26P|CC2D1B_uc001cts.2_Silent_p.P171P NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 480 ovary(2) 2 CTTTATCAGCCGGGGCTGAAT 0.567 30 61 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67109263 67109263 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:67109263C>T uc001dcr.2 + 7 537 c.320C>T c.(319-321)TCG>TTG p.S107L SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 107 Poly-Glu. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TCAAGTGAATCGGAAGAAGAA 0.343 14 128 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144886204 144886204 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:144886204C>A uc001elw.3 - 23 3321 c.3030G>T c.(3028-3030)AGG>AGT p.R1010S NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R1076S|PDE4DIP_uc001elv.3_Missense_Mutation_p.R17S NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1010 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGAACTCAGCCCTCAGGTGGA 0.522 T PDGFRB MPD 61 321 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144886205 144886205 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:144886205C>T uc001elw.3 - 23 3320 c.3029G>A c.(3028-3030)AGG>AAG p.R1010K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R1076K|PDE4DIP_uc001elv.3_Missense_Mutation_p.R17K NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1010 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAACTCAGCCCTCAGGTGGAG 0.517 T PDGFRB MPD 62 323 --- --- --- --- PASS SETDB1 9869 broad.mit.edu 37 1 150919447 150919447 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:150919447T>C uc001evu.2 + 10 1416 c.1226T>C c.(1225-1227)CTG>CCG p.L409P SETDB1_uc009wmf.2_Missense_Mutation_p.L409P|SETDB1_uc001evv.2_Missense_Mutation_p.L409P|SETDB1_uc009wmg.1_Missense_Mutation_p.L409P NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GCCTCTGCACTGGAGAAGAAG 0.493 46 100 --- --- --- --- PASS CD1E 913 broad.mit.edu 37 1 158325727 158325727 + Silent SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:158325727C>A uc001fse.2 + 4 975 c.736C>A c.(736-738)CGG>AGG p.R246R CD1E_uc010pid.1_Silent_p.R244R|CD1E_uc010pie.1_Silent_p.R147R|CD1E_uc010pif.1_Silent_p.R57R|CD1E_uc001fsd.2_Silent_p.R246R|CD1E_uc001fsk.2_Silent_p.R156R|CD1E_uc001fsj.2_Silent_p.R156R|CD1E_uc001fsc.2_Silent_p.R57R|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Silent_p.R57R|CD1E_uc001fsf.2_Silent_p.R246R|CD1E_uc001fry.2_Silent_p.R246R|CD1E_uc001fsg.2_Silent_p.R57R|CD1E_uc001fsh.2_Silent_p.R57R|CD1E_uc001fsi.2_Silent_p.R246R|CD1E_uc009wsv.2_Silent_p.R147R|CD1E_uc001frz.2_Silent_p.R156R|CD1E_uc009wsw.2_Silent_p.R4R NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 246 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) GATGTGGATGCGGGGTGAGCA 0.642 55 136 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158687805 158687805 + Missense_Mutation SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:158687805A>T uc010pip.1 - 1 149 c.149T>A c.(148-150)ATC>AAC p.I50N NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 50 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) AAAAGTATAGATGAAAAGTAA 0.373 63 160 --- --- --- --- PASS OR6K6 128371 broad.mit.edu 37 1 158725617 158725617 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:158725617G>T uc001fsw.1 + 1 1012 c.1012G>T c.(1012-1014)GCT>TCT p.A338S NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 338 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TCAGAAGAGGGCTGGTTGGGC 0.408 56 111 --- --- --- --- PASS APCS 325 broad.mit.edu 37 1 159558188 159558188 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:159558188C>T uc001ftv.2 + 2 458 c.362C>T c.(361-363)TCA>TTA p.S121L NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 121 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding ovary(1)|breast(1) 2 all_hematologic(112;0.0429) GAGTCCTCATCAGGTATTGCT 0.468 51 88 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179660053 179660053 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:179660053C>A uc001gnf.1 + 17 3171 c.2921C>A c.(2920-2922)CCC>CAC p.P974H TDRD5_uc010pnp.1_Missense_Mutation_p.P1028H|TDRD5_uc001gnh.1_Missense_Mutation_p.P529H NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 974 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 CACTGGTACCCCAGTGTGAAA 0.532 33 55 --- --- --- --- PASS KCNK2 3776 broad.mit.edu 37 1 215408273 215408273 + Nonsense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:215408273C>T uc001hkq.2 + 7 1235 c.1066C>T c.(1066-1068)CAG>TAG p.Q356* KCNK2_uc001hko.2_Nonsense_Mutation_p.Q352*|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc001hkr.3_Nonsense_Mutation_p.Q341* NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 356 Cytoplasmic (Potential).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TGACAAGTTCCAGCGGGCCAC 0.552 24 144 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216270496 216270496 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:216270496G>T uc001hku.1 - 22 5074 c.4687C>A c.(4687-4689)CCT>ACT p.P1563T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1563 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGATTGCCAGGTGATGCTGCA 0.383 HNSCC(13;0.011) 30 52 --- --- --- --- PASS FBXO28 23219 broad.mit.edu 37 1 224345054 224345054 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:224345054T>G uc001hoh.2 + 5 754 c.713T>G c.(712-714)GTT>GGT p.V238G FBXO28_uc009xef.2_Missense_Mutation_p.F173V|FBXO28_uc010pvc.1_Missense_Mutation_p.V33G NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 238 ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TCCTCCACAGTTCCAGGACCG 0.398 70 132 --- --- --- --- PASS ZNF496 84838 broad.mit.edu 37 1 247492835 247492835 + Nonsense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:247492835C>A uc001ico.2 - 3 511 c.46G>T c.(46-48)GAG>TAG p.E16* ZNF496_uc009xgv.2_Nonsense_Mutation_p.E16*|ZNF496_uc001icp.2_Nonsense_Mutation_p.E16*|ZNF496_uc010pyv.1_Nonsense_Mutation_p.E16* NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 16 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CTGGGCTCCTCACTTTCCTTC 0.602 39 141 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248202133 248202133 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:248202133C>T uc001idw.2 + 1 660 c.564C>T c.(562-564)TGC>TGT p.C188C OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CGCTAGCCTGCACAGACACTT 0.463 62 325 --- --- --- --- PASS TMEM18 129787 broad.mit.edu 37 2 675626 675626 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:675626G>A uc002qwl.2 - 2 156 c.62C>T c.(61-63)ACG>ATG p.T21M TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 21 cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) AGTCCAGTCCGTCTGCTGTAG 0.647 20 19 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1926397 1926397 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:1926397G>T uc002qxe.2 - 10 1971 c.1144C>A c.(1144-1146)CTC>ATC p.L382I MYT1L_uc002qxd.2_Missense_Mutation_p.L382I|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 382 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGCCGCATGAGGTTCAGCATG 0.592 8 52 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29295558 29295558 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:29295558G>T uc002rmt.1 - 1 1570 c.1570C>A c.(1570-1572)CCA>ACA p.P524T NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 524 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 GCCTGAAATGGGCTTTCCCGG 0.522 42 179 --- --- --- --- PASS CRIM1 51232 broad.mit.edu 37 2 36771551 36771551 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:36771551A>G uc002rpd.2 + 15 2695 c.2656A>G c.(2656-2658)ATT>GTT p.I886V NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 886 Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CAATATACCCATTGAGAAGAC 0.438 44 53 --- --- --- --- PASS EML4 27436 broad.mit.edu 37 2 42511812 42511812 + Missense_Mutation SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:42511812G>C uc002rsi.2 + 9 1242 c.980G>C c.(979-981)GGA>GCA p.G327A EML4_uc010fap.2_Missense_Mutation_p.G269A|EML4_uc002rsj.2_5'Flank NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 327 WD 1. microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 ATTGCAACTGGACAGATAGCT 0.378 T ALK NSCLC 31 88 --- --- --- --- PASS EML4 27436 broad.mit.edu 37 2 42511825 42511825 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:42511825C>T uc002rsi.2 + 9 1255 c.993C>T c.(991-993)GGC>GGT p.G331G EML4_uc010fap.2_Silent_p.G273G|EML4_uc002rsj.2_5'Flank NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 331 WD 1. microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 AGATAGCTGGCGTGGATAAAG 0.378 T ALK NSCLC 31 93 --- --- --- --- PASS ANXA4 307 broad.mit.edu 37 2 70052638 70052638 + Silent SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:70052638A>T uc002sfr.3 + 13 1184 c.957A>T c.(955-957)GGA>GGT p.G319G ANXA4_uc002sfs.3_Silent_p.G297G|ANXA4_uc010yqo.1_Silent_p.G235G NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 317 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 TCTGTGGAGGAGATGATTAAA 0.343 4 98 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74900824 74900824 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:74900824G>T uc002sna.1 + 7 802 c.691G>T c.(691-693)GTG>TTG p.V231L SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.V198L|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 231 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 TGTCGCAGCCGTGGCCTTGAG 0.567 53 74 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74900882 74900882 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:74900882T>C uc002sna.1 + 7 860 c.749T>C c.(748-750)TTC>TCC p.F250S SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.F217S|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 250 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 ATCTACTTCTTCTTTACGGAG 0.577 50 178 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88888334 88888334 + Silent SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:88888334G>T uc002stc.3 - 7 1453 c.1251C>A c.(1249-1251)GTC>GTA p.V417V NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 417 Lumenal (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TTTCATTAGTGACAGATTCCA 0.363 33 138 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98429176 98429176 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:98429176T>C uc002syh.3 - 16 1883 c.1654A>G c.(1654-1656)ATA>GTA p.I552V NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 552 integral to membrane ovary(4)|central_nervous_system(2) 6 CCAAAATCTATGAAACGTTCC 0.303 21 76 --- --- --- --- PASS CCDC115 84317 broad.mit.edu 37 2 131098603 131098603 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:131098603C>A uc002tqy.1 - 4 532 c.308G>T c.(307-309)AGG>ATG p.R103M CCDC115_uc002tqw.1_Missense_Mutation_p.R95M|CCDC115_uc010zaf.1_Missense_Mutation_p.R98M|CCDC115_uc002tqx.2_Missense_Mutation_p.R98M|CCDC115_uc002tqz.1_Missense_Mutation_p.R103M|IMP4_uc002tra.1_5'Flank NM_032357 NP_115733 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 103 endosome|lysosome 0 Colorectal(110;0.1) GCCCTTGCGCCTCCGCAGACC 0.478 11 21 --- --- --- --- PASS CXCR4 7852 broad.mit.edu 37 2 136872656 136872656 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:136872656T>C uc002tuz.2 - 2 937 c.842A>G c.(841-843)CAC>CGC p.H281R CXCR4_uc002tuy.2_Missense_Mutation_p.H285R|CXCR4_uc010fnk.2_Missense_Mutation_p.H266R NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 281 Extracellular. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) AATCCACTTGTGCACAGTGTT 0.488 154 585 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163393587 163393587 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:163393587G>A uc002uch.1 - 3 523 c.311C>T c.(310-312)TCC>TTC p.S104F KCNH7_uc002uci.2_Missense_Mutation_p.S104F NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 104 Cytoplasmic (Potential).|PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) AATAAAAGTGGACCCTAAGGA 0.299 41 70 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167141224 167141224 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:167141224G>A uc010fpl.2 - 12 2054 c.1713C>T c.(1711-1713)GCC>GCT p.A571A uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.A442A|SCN9A_uc002uds.1_Silent_p.A442A|SCN9A_uc002udt.1_Silent_p.A442A NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 571 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTCATCATCGGCAAATTCAG 0.493 29 91 --- --- --- --- PASS GAD1 2571 broad.mit.edu 37 2 171693312 171693312 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:171693312G>A uc002ugi.2 + 6 979 c.557G>A c.(556-558)CGA>CAA p.R186Q GAD1_uc002ugh.2_Missense_Mutation_p.R186Q NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 186 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGTCATCCTCGATTTTTCAAC 0.453 26 37 --- --- --- --- PASS HNRNPA3 220988 broad.mit.edu 37 2 178080348 178080348 + Nonsense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:178080348C>T uc002ulb.1 + 2 260 c.154C>T c.(154-156)CGA>TGA p.R52* HNRNPA3_uc002ulc.1_Nonsense_Mutation_p.R52*|HNRNPA3_uc002uld.2_Nonsense_Mutation_p.R30*|HNRNPA3_uc002ule.2_5'Flank NM_194247 NP_919223 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 52 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(2) 2 TGATAGTTTACGAGAACATTT 0.428 31 104 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179396364 179396364 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:179396364G>A uc010zfg.1 - 307 97498 c.97274C>T c.(97273-97275)ACG>ATG p.T32425M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26120M|TTN_uc010zfi.1_Missense_Mutation_p.T26053M|TTN_uc010zfj.1_Missense_Mutation_p.T25928M|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33352 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) GACTCCACTCGTGTTGGTGTA 0.453 55 75 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179435080 179435080 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:179435080T>G uc010zfg.1 - 275 68299 c.68075A>C c.(68074-68076)CAG>CCG p.Q22692P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q16387P|TTN_uc010zfi.1_Missense_Mutation_p.Q16320P|TTN_uc010zfj.1_Missense_Mutation_p.Q16195P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23619 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) GCTGAGAGTCTGCACATTGGC 0.423 9 53 --- --- --- --- PASS WDR75 84128 broad.mit.edu 37 2 190335583 190335583 + Missense_Mutation SNP A C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:190335583A>C uc002uql.1 + 18 2088 c.2028A>C c.(2026-2028)AAA>AAC p.K676N WDR75_uc002uqm.1_Missense_Mutation_p.K612N|WDR75_uc002uqn.1_Missense_Mutation_p.K454N|WDR75_uc002uqo.1_Missense_Mutation_p.K454N NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN WD repeat domain 75 676 nucleolus ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) CAGAAGAAAAACTCACACCAA 0.348 11 30 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196892735 196892735 + Silent SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:196892735A>G uc002utj.3 - 6 536 c.435T>C c.(433-435)GAT>GAC p.D145D NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 145 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTGTGCTTCCATCAGGGACAG 0.378 99 169 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211525340 211525340 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:211525340G>T uc002vee.3 + 32 4020 c.3888G>T c.(3886-3888)TTG>TTT p.L1296F CPS1_uc010fur.2_Missense_Mutation_p.L1302F|CPS1_uc010fus.2_Missense_Mutation_p.L845F NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1296 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCCAACATTGGACCATCCCA 0.363 43 179 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214794767 214794767 + Missense_Mutation SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:214794767A>T uc002veq.2 + 12 1390 c.1298A>T c.(1297-1299)GAA>GTA p.E433V SPAG16_uc010fuz.1_Missense_Mutation_p.E284V|SPAG16_uc002ver.2_Missense_Mutation_p.E379V|SPAG16_uc010zjk.1_Missense_Mutation_p.E339V NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 433 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTGACCTTTGAAGGACACAGC 0.433 32 138 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225669817 225669817 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:225669817C>T uc010fwz.1 - 37 4315 c.4076G>A c.(4075-4077)AGA>AAA p.R1359K DOCK10_uc002vob.2_Missense_Mutation_p.R1353K|DOCK10_uc002voa.2_Missense_Mutation_p.R15K|DOCK10_uc002voc.2_Missense_Mutation_p.R213K NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1359 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GCTGGGAGCTCTCTGCCAGTA 0.378 18 29 --- --- --- --- PASS BRPF1 7862 broad.mit.edu 37 3 9786059 9786059 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:9786059C>T uc003bse.2 + 9 3168 c.2769C>T c.(2767-2769)CAC>CAT p.H923H BRPF1_uc003bsf.2_Silent_p.H929H|BRPF1_uc003bsg.2_Silent_p.H922H|BRPF1_uc011ati.1_Intron NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 923 Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) CCCCCAGCCACGGAGGCAGTC 0.667 23 13 --- --- --- --- PASS ULK4 54986 broad.mit.edu 37 3 41979618 41979618 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:41979618G>T uc003ckv.3 - 3 411 c.210C>A c.(208-210)CAC>CAA p.H70Q ULK4_uc003ckw.2_Missense_Mutation_p.H70Q|ULK4_uc003ckx.1_Missense_Mutation_p.H70Q NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 70 Protein kinase. ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTAGCCAGAGGTGGTTGCTTG 0.348 35 30 --- --- --- --- PASS KIF9 64147 broad.mit.edu 37 3 47316827 47316827 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:47316827C>T uc010hjp.2 - 4 851 c.247G>A c.(247-249)GAT>AAT p.D83N KIF9_uc003cqx.2_Missense_Mutation_p.D83N|KIF9_uc003cqy.2_Missense_Mutation_p.D83N|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA|KIF9_uc003cra.3_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 83 Kinesin-motor. blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TTATAGCCATCGAGGGCCTGA 0.388 35 31 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74334634 74334634 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:74334634G>A uc003dpm.1 - 19 2606 c.2526C>T c.(2524-2526)TAC>TAT p.Y842Y NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 842 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCCCATTCCAGTACCGCACCT 0.463 111 93 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97869132 97869132 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:97869132C>A uc003dsg.1 + 1 903 c.903C>A c.(901-903)TTC>TTA p.F301L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TAGCTTCATTCACAAAAATGT 0.303 9 119 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97984036 97984036 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:97984036C>G uc003dsi.1 + 1 908 c.908C>G c.(907-909)CCC>CGC p.P303R NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 303 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 TTATTAAATCCCATGATCTAC 0.378 13 130 --- --- --- --- PASS TOMM70A 9868 broad.mit.edu 37 3 100105680 100105680 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:100105680T>C uc003dtw.2 - 2 899 c.467A>G c.(466-468)TAT>TGT p.Y156C NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 156 Cytoplasmic (Potential).|TPR 2. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 TCTGTTTTGATAAAATGTAGA 0.348 45 145 --- --- --- --- PASS RG9MTD1 54931 broad.mit.edu 37 3 101284244 101284244 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:101284244T>G uc003duz.2 + 2 767 c.619T>G c.(619-621)TTT>GTT p.F207V NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 207 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 ACCTTTGGTTTTTGACATGGC 0.393 31 288 --- --- --- --- PASS ZPLD1 131368 broad.mit.edu 37 3 102181156 102181156 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:102181156C>G uc003dvs.1 + 13 1496 c.614C>G c.(613-615)CCC>CGC p.P205R ZPLD1_uc003dvt.1_Missense_Mutation_p.P221R|ZPLD1_uc011bhg.1_Missense_Mutation_p.P205R NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 205 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 TTAATTATCCCCAGTATAGGA 0.343 12 106 --- --- --- --- PASS AMOTL2 51421 broad.mit.edu 37 3 134089920 134089920 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:134089920G>A uc003eqf.2 - 2 647 c.530C>T c.(529-531)GCC>GTC p.A177V AMOTL2_uc003eqg.1_Missense_Mutation_p.A119V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A119V NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 119 large_intestine(1) 1 TGCCTGCTGGGCCGCATAGTA 0.687 12 42 --- --- --- --- PASS HLTF 6596 broad.mit.edu 37 3 148757868 148757868 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:148757868C>T uc003ewq.1 - 21 2670 c.2452G>A c.(2452-2454)GCA>ACA p.A818T HLTF_uc003ewr.1_Missense_Mutation_p.A818T|HLTF_uc003ews.1_Missense_Mutation_p.A817T|HLTF_uc010hve.1_Missense_Mutation_p.A817T NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 818 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CTGTCACGTGCTAATTCTTCT 0.323 23 108 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173993266 173993266 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:173993266C>A uc003fio.1 + 5 1231 c.808C>A c.(808-810)CTG>ATG p.L270M NLGN1_uc010hww.1_Missense_Mutation_p.L310M|NLGN1_uc003fip.1_Missense_Mutation_p.L270M NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 287 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGTCAACCTGCTGACTTTATC 0.418 67 138 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180364958 180364958 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:180364958G>A uc010hxe.2 - 11 1551 c.1436C>T c.(1435-1437)GCG>GTG p.A479V CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 479 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGCTTCAAGCGCTTGTTTTTC 0.343 14 65 --- --- --- --- PASS PSMD2 5708 broad.mit.edu 37 3 184024268 184024268 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:184024268C>T uc003fnn.1 + 15 1968 c.1935C>T c.(1933-1935)GAC>GAT p.D645D PSMD2_uc011brj.1_Silent_p.D486D|PSMD2_uc011brk.1_Silent_p.D515D NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 645 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CCCCTGCTGACATGGGAGCAC 0.363 16 170 --- --- --- --- PASS RTP4 64108 broad.mit.edu 37 3 187089076 187089076 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr3:187089076C>G uc003frm.2 + 2 718 c.656C>G c.(655-657)CCC>CGC p.P219R NM_022147 NP_071430 Q96DX8 RTP4_HUMAN 28kD interferon responsive protein 219 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding 0 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AAATTAGGGCCCAGTCGAGAC 0.453 9 101 --- --- --- --- PASS PPP2R2C 5522 broad.mit.edu 37 4 6325261 6325261 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:6325261C>T uc003gjc.2 - 9 1482 c.1112G>A c.(1111-1113)CGG>CAG p.R371Q PPP2R2C_uc003gjb.2_Missense_Mutation_p.R354Q|PPP2R2C_uc011bwd.1_Missense_Mutation_p.R364Q|PPP2R2C_uc011bwe.1_Missense_Mutation_p.R364Q|PPP2R2C_uc003gja.2_Missense_Mutation_p.R371Q NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 371 WD 6. signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 GGTCACGTCCCGCTTGGTGTT 0.632 14 47 --- --- --- --- PASS KIAA0232 9778 broad.mit.edu 37 4 6843887 6843887 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:6843887A>G uc003gjr.3 + 4 788 c.325A>G c.(325-327)AAA>GAA p.K109E KIAA0232_uc003gjq.3_Missense_Mutation_p.K109E NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 109 ATP binding ovary(2) 2 AGAAGAAATGAAAAAACAGGC 0.368 56 58 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46252458 46252458 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:46252458T>C uc003gxc.3 - 9 1896 c.1223A>G c.(1222-1224)AAG>AGG p.K408R GABRA2_uc010igc.2_Missense_Mutation_p.K408R|GABRA2_uc011bzc.1_Missense_Mutation_p.K413R NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 408 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.K408K(1) ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAAAGTTTTCTTTGCTTCAGC 0.403 115 116 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55140744 55140744 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:55140744G>A uc003han.3 + 11 1936 c.1605G>A c.(1603-1605)TTG>TTA p.L535L PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.L429L|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 535 Helical; (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGGTGCTGTTGGTGATTGTGA 0.448 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 64 81 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159568269 159568269 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:159568269G>T uc003ipz.2 + 16 1754 c.1672G>T c.(1672-1674)GGC>TGC p.G558C RXFP1_uc011cja.1_Missense_Mutation_p.G453C|RXFP1_uc010iqo.2_Missense_Mutation_p.G510C|RXFP1_uc011cjb.1_Missense_Mutation_p.G456C|RXFP1_uc010iqk.2_Missense_Mutation_p.G426C|RXFP1_uc011cjc.1_Missense_Mutation_p.G477C|RXFP1_uc011cjd.1_Missense_Mutation_p.G477C|RXFP1_uc010iql.2_Missense_Mutation_p.G402C|RXFP1_uc011cje.1_Missense_Mutation_p.G585C|RXFP1_uc010iqm.2_Missense_Mutation_p.G525C|RXFP1_uc011cjf.1_Missense_Mutation_p.G427C|RXFP1_uc010iqn.2_Missense_Mutation_p.G503C NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 558 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AAACTACTATGGCACCAATGG 0.343 41 41 --- --- --- --- PASS FNIP2 57600 broad.mit.edu 37 4 159791564 159791564 + Silent SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:159791564C>G uc003iqe.3 + 14 3075 c.2892C>G c.(2890-2892)ACC>ACG p.T964T NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 964 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TTCATGGGACCGGCAGTGATG 0.552 21 47 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183602986 183602986 + Silent SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:183602986G>C uc003ivd.1 + 10 1891 c.1854G>C c.(1852-1854)GGG>GGC p.G618G ODZ3_uc003ive.1_Silent_p.G24G NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 618 EGF-like 4.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TAGACCCTGGGTGTTCTAATC 0.403 10 23 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187540801 187540801 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:187540801T>G uc003izf.2 - 10 7127 c.6939A>C c.(6937-6939)GAA>GAC p.E2313D NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2313 Extracellular (Potential).|Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTCTATTTGGTTCTGAATCAG 0.453 HNSCC(5;0.00058) 74 73 --- --- --- --- PASS CLPTM1L 81037 broad.mit.edu 37 5 1323906 1323906 + Nonsense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr5:1323906T>A uc003jch.2 - 12 1322 c.1276A>T c.(1276-1278)AAG>TAG p.K426* CLPTM1L_uc003jcg.2_Nonsense_Mutation_p.K257* NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN CLPTM1-like 426 Extracellular (Potential). apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) TCCTACCTCTTATATTTGATA 0.537 47 62 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19483468 19483468 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr5:19483468C>T uc003jgc.2 - 11 2201 c.1824G>A c.(1822-1824)TCG>TCA p.S608S CDH18_uc003jgd.2_Silent_p.S608S|CDH18_uc011cnm.1_Missense_Mutation_p.R572Q NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 608 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCAAACCAGCCGAGGACAGGA 0.522 29 52 --- --- --- --- PASS UGT3A2 167127 broad.mit.edu 37 5 36049404 36049404 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr5:36049404C>A uc003jjz.1 - 4 523 c.430G>T c.(430-432)GTT>TTT p.V144F UGT3A2_uc011cos.1_Missense_Mutation_p.V110F|UGT3A2_uc011cot.1_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 144 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAGTTTCAACTATCACCATG 0.388 43 94 --- --- --- --- PASS ZNF608 57507 broad.mit.edu 37 5 123980279 123980279 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr5:123980279C>G uc003ktq.1 - 5 3904 c.3781G>C c.(3781-3783)GAT>CAT p.D1261H ZNF608_uc003ktr.1_RNA|ZNF608_uc003ktp.1_5'UTR NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1261 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTCTCTCTATCAAGTTCTTCT 0.373 70 64 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128957974 128957974 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr5:128957974C>A uc003kvb.1 + 10 1685 c.1685C>A c.(1684-1686)ACA>AAA p.T562K ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 562 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CCAGGGATGACATACACTGCT 0.478 49 32 --- --- --- --- PASS LARS 51520 broad.mit.edu 37 5 145493753 145493753 + Silent SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr5:145493753C>A uc003lnx.1 - 32 3685 c.3447G>T c.(3445-3447)GTG>GTT p.V1149V LARS_uc003lnw.1_Silent_p.V307V|LARS_uc011dbq.1_Silent_p.V1103V|LARS_uc011dbr.1_Silent_p.V1095V|LARS_uc011dbs.1_Silent_p.V1122V NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 1149 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) TCATGAGGTCCACATTGAAAA 0.448 100 96 --- --- --- --- PASS MGAT1 4245 broad.mit.edu 37 5 180219325 180219325 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr5:180219325G>A uc003mmg.3 - 2 1142 c.647C>T c.(646-648)CCG>CTG p.P216L MGAT1_uc010jlf.2_Missense_Mutation_p.P216L|MGAT1_uc010jlg.2_Missense_Mutation_p.P216L|MGAT1_uc003mmh.3_Missense_Mutation_p.P216L|MGAT1_uc010jlh.2_Missense_Mutation_p.P216L|MGAT1_uc003mmi.3_Missense_Mutation_p.P216L NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 216 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAGAAGTCCGGGGCCACCTC 0.652 29 29 --- --- --- --- PASS GCM2 9247 broad.mit.edu 37 6 10875151 10875151 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:10875151C>A uc003mzn.3 - 5 670 c.598G>T c.(598-600)GAC>TAC p.D200Y SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 200 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) CCACTGCTGTCTTGATTTTCT 0.423 27 124 --- --- --- --- PASS ZNF311 282890 broad.mit.edu 37 6 28966578 28966578 + Silent SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:28966578C>G uc003nlu.2 - 6 861 c.348G>C c.(346-348)CTG>CTC p.L116L ZNF311_uc011dlk.1_Silent_p.L24L|ZNF311_uc003nlv.2_Silent_p.L24L NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 CTTCTCGCTCCAGATGAGAGA 0.428 69 188 --- --- --- --- PASS ATP6V1G2 534 broad.mit.edu 37 6 31513318 31513318 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:31513318T>G uc003nua.2 - 3 515 c.224A>C c.(223-225)CAG>CCG p.Q75P BAT1_uc003ntv.2_Intron|ATP6V1G2_uc003ntz.2_Missense_Mutation_p.Q34P|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank NM_130463 NP_569730 O95670 VATG2_HUMAN ATPase, H+ transporting, lysosomal, V1 subunit 75 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding 0 CCTTGTAGCCTGCTCCACCTC 0.627 4 90 --- --- --- --- PASS C6orf25 80739 broad.mit.edu 37 6 31691947 31691947 + Silent SNP G A A rs140027534 TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:31691947G>A uc011doc.1 + 3 438 c.438G>A c.(436-438)CCG>CCA p.P146P LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Silent_p.P146P|C6orf25_uc011dod.1_Intron|C6orf25_uc011doe.1_Intron|C6orf25_uc003nwo.2_Intron|C6orf25_uc003nwn.2_Silent_p.P146P NM_138272 NP_612116 O95866 G6B_HUMAN G6B protein isoform G6b-B precursor 146 Helical; (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity 0 TCCTGATCCCGCTGCTGGGCG 0.667 19 41 --- --- --- --- PASS EGFL8 80864 broad.mit.edu 37 6 32135181 32135181 + Missense_Mutation SNP G C C rs138835391 TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:32135181G>C uc003oab.1 + 7 714 c.656G>C c.(655-657)CGA>CCA p.R219P PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.R219P NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 219 Potential. extracellular region|integral to membrane calcium ion binding 0 CACGAGCTGCGAGGGCGCCTG 0.607 13 59 --- --- --- --- PASS CDKN1A 1026 broad.mit.edu 37 6 36652134 36652134 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:36652134C>T uc003omm.3 + 2 378 c.256C>T c.(256-258)CGG>TGG p.R86W CDKN1A_uc011dtq.1_Missense_Mutation_p.R120W|CDKN1A_uc003oml.2_Missense_Mutation_p.R86W|CDKN1A_uc003omn.2_Missense_Mutation_p.R86W NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 86 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 CCGGCGAGGCCGGGATGAGTT 0.657 Multiple_Endocrine_Neoplasia_type_1 10 33 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38891855 38891855 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:38891855C>A uc003ooe.1 + 71 10828 c.10228C>A c.(10228-10230)CAA>AAA p.Q3410K uc003oof.1_Intron 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 GCTTAAAGATCAATGGGAAAT 0.388 80 61 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49582418 49582418 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:49582418G>T uc003ozk.3 - 5 851 c.789C>A c.(787-789)CAC>CAA p.H263Q RHAG_uc010jzl.2_Missense_Mutation_p.H263Q|RHAG_uc010jzm.2_Missense_Mutation_p.H263Q NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 263 Cytoplasmic (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) GCTTGCCTCGGTGCTCCACTA 0.498 117 161 --- --- --- --- PASS HCRTR2 3062 broad.mit.edu 37 6 55128622 55128622 + Splice_Site SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:55128622T>A uc003pcl.2 + 4 1077 c.762_splice c.e4+2 p.Q254_splice HCRTR2_uc010jzv.2_Splice_Site|HCRTR2_uc010jzw.1_Missense_Mutation_p.V190E NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGTCGACAGGTATATAGTTTC 0.363 23 35 --- --- --- --- PASS LCA5 167691 broad.mit.edu 37 6 80223280 80223280 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:80223280C>G uc003pix.2 - 3 804 c.369G>C c.(367-369)CAG>CAC p.Q123H LCA5_uc003piy.2_Missense_Mutation_p.Q123H|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.Q123H NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 123 Potential. protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) CTAACTTGACCTGGAGTTCAG 0.388 97 115 --- --- --- --- PASS NR2E1 7101 broad.mit.edu 37 6 108492769 108492769 + Nonsense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:108492769C>T uc003psg.2 + 2 888 c.133C>T c.(133-135)CGA>TGA p.R45* NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 45 Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) ACGGAGCATCCGAAGGAATAG 0.552 128 124 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127796683 127796683 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:127796683C>G uc003qbd.2 - 6 3353 c.2488G>C c.(2488-2490)GAC>CAC p.D830H C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 830 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) ATGAGCCGGTCGATGGTCTTG 0.667 84 72 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152560753 152560753 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:152560753T>C uc010kiw.2 - 108 20584 c.19982A>G c.(19981-19983)CAG>CGG p.Q6661R SYNE1_uc010kiv.2_Missense_Mutation_p.Q1185R|SYNE1_uc003qos.3_Missense_Mutation_p.Q1185R|SYNE1_uc003qot.3_Missense_Mutation_p.Q6590R|SYNE1_uc003qou.3_Missense_Mutation_p.Q6661R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6661 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTATGGAACTGGGTTTCCTT 0.458 HNSCC(10;0.0054) 55 63 --- --- --- --- PASS ZDHHC14 79683 broad.mit.edu 37 6 158014086 158014086 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:158014086A>G uc003qqt.2 + 3 970 c.473A>G c.(472-474)AAT>AGT p.N158S ZDHHC14_uc003qqs.2_Missense_Mutation_p.N158S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.N53S NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 158 integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GTCATCATCAATGGCCAGACC 0.522 34 97 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 162475142 162475142 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr6:162475142T>G uc003qtx.3 - 5 733 c.599A>C c.(598-600)CAC>CCC p.H200P PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.H9P|PARK2_uc003qtw.3_Missense_Mutation_p.H9P|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.H200P NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 200 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CCCAGGGCAGTGTGGGGATTG 0.413 34 88 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1539535 1539535 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:1539535G>A uc003skn.2 - 5 770 c.669C>T c.(667-669)CCC>CCT p.P223P INTS1_uc003skq.2_Silent_p.P223P NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 223 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CAAAGATCTCGGGCCAGTTCT 0.612 16 38 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5353167 5353167 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:5353167C>T uc003soi.3 - 27 7704 c.7355G>A c.(7354-7356)CGG>CAG p.R2452Q NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2452 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCCCGGCCTCCGAGGGCCCTT 0.677 10 24 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11676275 11676275 + Silent SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:11676275A>T uc003ssf.3 - 2 756 c.504T>A c.(502-504)CCT>CCA p.P168P NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 168 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TATCCTCCGCAGGAATGTCTT 0.473 HNSCC(18;0.044) 24 67 --- --- --- --- PASS ITGB8 3696 broad.mit.edu 37 7 20418789 20418789 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:20418789C>T uc003suu.2 + 4 1209 c.504C>T c.(502-504)TCC>TCT p.S168S ITGB8_uc011jyh.1_Silent_p.S33S|ITGB8_uc003sut.2_Silent_p.S168S NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 168 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 AATTAAATTCCGTTGGAAACG 0.338 22 117 --- --- --- --- PASS EVX1 2128 broad.mit.edu 37 7 27284804 27284804 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:27284804G>A uc003szd.1 + 2 1051 c.565G>A c.(565-567)GCC>ACC p.A189T EVX1_uc011jzn.1_Missense_Mutation_p.A7T|EVX1_uc010kuy.1_Silent_p.P170P NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 189 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TTACCGCACCGCCTTCACCCG 0.657 40 87 --- --- --- --- PASS CPVL 54504 broad.mit.edu 37 7 29152366 29152366 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:29152366T>C uc003szv.2 - 3 361 c.242A>G c.(241-243)AAT>AGT p.N81S CPVL_uc003szw.2_Missense_Mutation_p.N81S|CPVL_uc003szx.2_Missense_Mutation_p.N81S NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 81 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 GTAAGTCTTATTCACGGTGAG 0.483 10 106 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57194316 57194316 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:57194316C>A uc010kzo.2 - 3 420 c.149G>T c.(148-150)AGA>ATA p.R50I NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) GACCAGGTTTCTGTAGTTCTC 0.378 53 210 --- --- --- --- PASS GUSB 2990 broad.mit.edu 37 7 65426044 65426044 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:65426044G>A uc003tun.2 - 12 1872 c.1796C>T c.(1795-1797)ACG>ATG p.T599M GUSB_uc011kdt.1_Missense_Mutation_p.T453M NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 599 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 CAGCACTCTCGTCGGTGCTAC 0.433 96 256 --- --- --- --- PASS CALN1 83698 broad.mit.edu 37 7 71868307 71868307 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:71868307T>G uc003twb.3 - 2 439 c.48A>C c.(46-48)AAA>AAC p.K16N CALN1_uc003twc.3_Intron NM_031468 NP_113656 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 1 Error:Variant_position_missing_in_Q9BXU9_after_alignment Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CGTCCCCCTTTTTCTCATTCT 0.632 2 1 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80427490 80427490 + Missense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:80427490T>A uc003uhj.2 - 11 1611 c.1049A>T c.(1048-1050)AAT>ATT p.N350I SEMA3C_uc011kgw.1_Missense_Mutation_p.N368I|SEMA3C_uc011kgx.1_Missense_Mutation_p.N202I NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 350 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 AAAAGGCCCATTAAACACAGT 0.398 6 137 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83119461 83119461 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:83119461C>A uc003uhy.1 - 2 711 c.245G>T c.(244-246)AGC>ATC p.S82I NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 82 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) TCTCTCCAAGCTGAGGGAATA 0.413 40 80 --- --- --- --- PASS STEAP2 261729 broad.mit.edu 37 7 89861917 89861917 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:89861917G>A uc003ujz.2 + 5 1845 c.1452G>A c.(1450-1452)CCG>CCA p.P484P STEAP2_uc010len.2_Silent_p.P484P|STEAP2_uc003uka.2_Intron|STEAP2_uc003ukb.2_Silent_p.P484P|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Intron NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 484 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) ATGTCTCCCCGGAGAGGGTCA 0.403 28 42 --- --- --- --- PASS CDK14 5218 broad.mit.edu 37 7 90356022 90356022 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:90356022C>G uc003uky.2 + 3 487 c.265C>G c.(265-267)CAA>GAA p.Q89E CDK14_uc003ukt.1_Missense_Mutation_p.Q43E|CDK14_uc003ukv.1_Missense_Mutation_p.Q43E|CDK14_uc003uku.1_Missense_Mutation_p.Q43E|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Missense_Mutation_p.Q71E|CDK14_uc010les.1_Missense_Mutation_p.Q43E|CDK14_uc011khl.1_Translation_Start_Site NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 89 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 ACCAGCTAATCAAGTAAAGAG 0.463 81 95 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98535291 98535291 + Missense_Mutation SNP A C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:98535291A>C uc003upp.2 + 30 4461 c.4252A>C c.(4252-4254)ATA>CTA p.I1418L TRRAP_uc011kis.1_Missense_Mutation_p.I1418L|TRRAP_uc003upr.2_Missense_Mutation_p.I1110L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1418 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGGTGCTACCATAGAAGTCGA 0.398 8 151 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101845426 101845426 + Missense_Mutation SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:101845426G>C uc003uyx.3 + 18 2887 c.2849G>C c.(2848-2850)CGG>CCG p.R950P CUX1_uc003uys.3_Missense_Mutation_p.R961P|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 950 CUT 2. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GAGCTCACCCGGCAGGTTAAG 0.597 82 189 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111409709 111409709 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:111409709T>C uc003vfx.2 - 36 3946 c.3677A>G c.(3676-3678)TAT>TGT p.Y1226C DOCK4_uc011kml.1_Missense_Mutation_p.Y107C|DOCK4_uc011kmm.1_Missense_Mutation_p.Y133C|DOCK4_uc003vfw.2_Missense_Mutation_p.Y676C|DOCK4_uc003vfy.2_Missense_Mutation_p.Y1271C NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1226 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TAGCTCGTCATATAAGAGGAG 0.527 30 42 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113558772 113558772 + Missense_Mutation SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:113558772A>T uc010ljy.1 - 1 311 c.280T>A c.(280-282)TTA>ATA p.L94I NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 94 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TCCGTCCCTAAGTCAAAAGTG 0.378 18 204 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128494544 128494544 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:128494544G>A uc003vnz.3 + 41 7014 c.6805G>A c.(6805-6807)GGC>AGC p.G2269S FLNC_uc003voa.3_Missense_Mutation_p.G2236S NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2269 Filamin 20. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GATCGTCGAGGGCGAGGACAG 0.647 4 16 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131853184 131853184 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:131853184G>A uc003vra.3 - 22 4394 c.4165C>T c.(4165-4167)CTC>TTC p.L1389F NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1389 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GTCATGATGAGTGAGGCCACG 0.577 15 73 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131912348 131912348 + Missense_Mutation SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:131912348A>T uc003vra.3 - 7 1973 c.1744T>A c.(1744-1746)TAC>AAC p.Y582N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 582 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GGGACATTGTACGTCTCCAGG 0.552 29 77 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142723568 142723568 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:142723568T>C uc003wcc.1 - 1 652 c.652A>G c.(652-654)ATC>GTC p.I218V NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 218 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) ATGGTGGAGATAATGTAGGTG 0.468 23 66 --- --- --- --- PASS GIMAP1 170575 broad.mit.edu 37 7 150417223 150417223 + Missense_Mutation SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr7:150417223G>C uc003whq.2 + 3 218 c.131G>C c.(130-132)GGG>GCG p.G44A GIMAP1_uc003whp.2_Missense_Mutation_p.G52A NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 44 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCGCCACTGGGAACAGCATC 0.642 55 197 --- --- --- --- PASS FNTA 2339 broad.mit.edu 37 8 42940421 42940421 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:42940421A>G uc003xps.2 + 9 1184 c.1136A>G c.(1135-1137)CAA>CGA p.Q379R FNTA_uc003xpt.2_Missense_Mutation_p.Q288R|FNTA_uc003xpu.2_Missense_Mutation_p.Q312R|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 379 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AATGTACAGCAATAACACCAT 0.403 6 98 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52359584 52359584 + Missense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:52359584T>A uc003xqu.3 - 12 1606 c.1505A>T c.(1504-1506)CAG>CTG p.Q502L NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 502 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TACAGTCAGCTGCACAGACAC 0.448 49 244 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55538412 55538412 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:55538412T>G uc003xsd.1 + 4 2118 c.1970T>G c.(1969-1971)CTT>CGT p.L657R RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 657 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTAACAAAACTTCCAAAAAAT 0.358 26 66 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67547217 67547217 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:67547217C>A uc003xwn.2 - 3 3447 c.3188G>T c.(3187-3189)AGT>ATT p.S1063I NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 1063 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TTTAGTGGAACTATTACTAAA 0.418 38 260 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767456 77767456 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:77767456C>A uc003yav.2 + 10 8551 c.8164C>A c.(8164-8166)CTT>ATT p.L2722I ZFHX4_uc003yau.1_Missense_Mutation_p.L2767I|ZFHX4_uc003yaw.1_Missense_Mutation_p.L2722I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2722 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCGAAGAATCTTTTAAGCCC 0.383 HNSCC(33;0.089) 28 54 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77768504 77768504 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:77768504C>A uc003yav.2 + 10 9599 c.9212C>A c.(9211-9213)TCC>TAC p.S3071Y ZFHX4_uc003yau.1_Missense_Mutation_p.S3116Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S3071Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3071 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACGGTCCATCCTCCTTGCCG 0.502 HNSCC(33;0.089) 33 54 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92346641 92346641 + Missense_Mutation SNP A C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:92346641A>C uc003yex.2 + 7 1039 c.761A>C c.(760-762)AAA>ACA p.K254T SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.K254T|SLC26A7_uc003yfa.2_Missense_Mutation_p.K254T NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 254 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTTAAAAGGAAAATTAAAGTT 0.368 40 64 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99961551 99961551 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:99961551C>A uc003yir.2 + 2 906 c.371C>A c.(370-372)GCT>GAT p.A124D OSR2_uc010mbn.2_Missense_Mutation_p.A124D|OSR2_uc003yiq.2_Missense_Mutation_p.A124D|OSR2_uc011lgx.1_Missense_Mutation_p.A245D NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 124 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) TTGGCGGTGGCTGCCACGCAA 0.612 107 192 --- --- --- --- PASS SNX31 169166 broad.mit.edu 37 8 101661695 101661695 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:101661695C>T uc003yjr.2 - 1 199 c.48G>A c.(46-48)GCG>GCA p.A16A NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN sorting nexin 31 16 PX. cell communication|protein transport phosphatidylinositol binding 0 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GGCCCCCCAGCGCGTCGGACC 0.697 8 12 --- --- --- --- PASS MTBP 27085 broad.mit.edu 37 8 121519088 121519088 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:121519088C>T uc003ypc.1 + 16 1915 c.1870C>T c.(1870-1872)CCG>TCG p.P624S NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 624 Interaction with MDM2 (By similarity). cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TCAACCTTTACCGATTCAAAA 0.328 23 109 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133044286 133044286 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:133044286G>T uc003ytg.2 - 11 873 c.873C>A c.(871-873)TTC>TTA p.F291L OC90_uc011lix.1_Missense_Mutation_p.F291L NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 307 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GCAGGAAGGTGAATCTGTCAC 0.547 33 112 --- --- --- --- PASS SLA 6503 broad.mit.edu 37 8 134062194 134062194 + Silent SNP A C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:134062194A>C uc003ytz.2 - 5 1033 c.201T>G c.(199-201)GGT>GGG p.G67G TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.G84G|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Silent_p.G84G|SLA_uc010mdy.1_Silent_p.G67G|SLA_uc010mdz.1_Silent_p.G67G|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Silent_p.G107G NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 67 SH3. endosome SH3/SH2 adaptor activity lung(1)|liver(1) 2 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) AACTCTCTCGACCAGTGCTAA 0.438 25 117 --- --- --- --- PASS FOXH1 8928 broad.mit.edu 37 8 145699868 145699868 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:145699868A>G uc003zdc.2 - 3 1430 c.851T>C c.(850-852)ATC>ACC p.I284T NM_003923 NP_003914 O75593 FOXH1_HUMAN forkhead box H1 284 SMAD-interaction domain (SID). axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGGAGTGTAGATAGGCAAGTA 0.652 22 87 --- --- --- --- PASS ARHGAP39 80728 broad.mit.edu 37 8 145773569 145773569 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr8:145773569G>A uc003zdt.1 - 6 1456 c.901C>T c.(901-903)CCC>TCC p.P301S ARHGAP39_uc011llk.1_Missense_Mutation_p.P301S|ARHGAP39_uc003zds.1_Missense_Mutation_p.P301S NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 301 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GGGGAGGAGGGCTGCGAGTCC 0.682 26 47 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32631226 32631226 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr9:32631226T>C uc003zrg.1 - 1 4442 c.4352A>G c.(4351-4353)GAA>GGA p.E1451G uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1451 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ACGCACATTTTCACGGAGTGT 0.448 72 214 --- --- --- --- PASS XPA 7507 broad.mit.edu 37 9 100459559 100459559 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr9:100459559C>A uc004axr.3 - 1 133 c.16G>T c.(16-18)GGG>TGG p.G6W XPA_uc004axs.3_RNA NM_000380 NP_000371 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 6 Interaction with CEP164 and required for UV resistance. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1) 1 Acute lymphoblastic leukemia(62;0.158) GGCAAAGCCCCGTCGGCCGCC 0.726 Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 16 13 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 122075418 122075418 + Nonsense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr9:122075418G>T uc004bkc.2 - 2 672 c.216C>A c.(214-216)TAC>TAA p.Y72* DBC1_uc004bkd.2_Nonsense_Mutation_p.Y72* NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 72 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GGTCTTACCTGTATATTTTAT 0.453 20 30 --- --- --- --- PASS PHYH 5264 broad.mit.edu 37 10 13330441 13330441 + Missense_Mutation SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr10:13330441G>C uc001imf.2 - 6 685 c.597C>G c.(595-597)ATC>ATG p.I199M PHYH_uc001ime.2_Missense_Mutation_p.I99M|PHYH_uc001img.2_Missense_Mutation_p.I182M NM_006214 NP_006205 O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase isoform a precursor 199 I -> F (in RD). fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding 0 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TGTTCCGGCTGATGTGCTCCA 0.627 45 44 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69935098 69935098 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr10:69935098G>A uc001jnm.3 + 13 2768 c.2583G>A c.(2581-2583)GCG>GCA p.A861A MYPN_uc001jnn.3_Silent_p.A586A|MYPN_uc001jno.3_Silent_p.A861A|MYPN_uc009xpt.2_Silent_p.A861A|MYPN_uc010qit.1_Silent_p.A567A|MYPN_uc010qiu.1_Intron NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 861 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 AGGGATTAGCGAAGAAAAATA 0.418 25 27 --- --- --- --- PASS BLNK 29760 broad.mit.edu 37 10 97969612 97969612 + Missense_Mutation SNP G C C rs35461367 TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr10:97969612G>C uc001kls.3 - 9 906 c.728C>G c.(727-729)TCC>TGC p.S243C BLNK_uc001kme.3_Missense_Mutation_p.S138C|BLNK_uc001klt.3_Missense_Mutation_p.S134C|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.S161C|BLNK_uc001klv.3_Missense_Mutation_p.S138C|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.S220C|BLNK_uc001kly.3_Missense_Mutation_p.S243C|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.S220C|BLNK_uc001kmb.3_Missense_Mutation_p.S39C|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.S161C|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 243 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TGGCAACGGGGATGGTGCAGC 0.567 54 201 --- --- --- --- PASS EIF3A 8661 broad.mit.edu 37 10 120796677 120796677 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr10:120796677G>A uc001ldu.2 - 21 4019 c.3873C>T c.(3871-3873)GAC>GAT p.D1291D EIF3A_uc010qsu.1_Silent_p.D1257D NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1291 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GGTCCCTGTCGTCTCTTAGAT 0.532 53 243 --- --- --- --- PASS C10orf88 80007 broad.mit.edu 37 10 124697585 124697585 + Nonsense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr10:124697585C>A uc001lgw.2 - 5 964 c.739G>T c.(739-741)GGA>TGA p.G247* C10orf88_uc001lgx.2_Nonsense_Mutation_p.G149* NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 247 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TTTAAGGTTCCTAAGGTAGAT 0.403 60 72 --- --- --- --- PASS SIRT3 23410 broad.mit.edu 37 11 233040 233040 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:233040G>T uc001lok.3 - 3 683 c.649C>A c.(649-651)CAT>AAT p.H217N SIRT3_uc001loj.3_Missense_Mutation_p.H75N|SIRT3_uc010qvm.1_Missense_Mutation_p.H153N|SIRT3_uc010qvn.1_Missense_Mutation_p.H136N|SIRT3_uc010qvo.1_Missense_Mutation_p.H217N|SIRT3_uc010qvp.1_Missense_Mutation_p.H217N|SIRT3_uc010qvq.1_Missense_Mutation_p.H75N|SIRT3_uc009ybt.1_RNA NM_012239 NP_036371 Q9NTG7 SIRT3_HUMAN sirtuin 3 isoform a 217 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding urinary_tract(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) CCCTTGTCATGAAGCAGCCGG 0.522 39 31 --- --- --- --- PASS OR52B4 143496 broad.mit.edu 37 11 4389372 4389372 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:4389372G>T uc010qye.1 - 1 154 c.154C>A c.(154-156)CTC>ATC p.L52I NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CGCTTTGTGAGGATAATGAAG 0.527 20 25 --- --- --- --- PASS OR4C11 219429 broad.mit.edu 37 11 55371668 55371668 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:55371668A>G uc010rii.1 - 1 182 c.182T>C c.(181-183)CTA>CCA p.L61P NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAAATAAAATAGAAAGAAGTA 0.388 58 62 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432931 55432931 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:55432931A>G uc001nht.3 + 3 554 c.289A>G c.(289-291)ACC>GCC p.T97A OR4C6_uc010rik.1_Missense_Mutation_p.T97A NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AGGCTGCCTCACCCAGCTGTT 0.527 30 115 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57080646 57080646 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:57080646C>A uc001njr.2 - 4 1828 c.1516G>T c.(1516-1518)GCC>TCC p.A506S TNKS1BP1_uc001njs.2_Missense_Mutation_p.A506S|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 506 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GCCTCGGCGGCCTCACTGGCT 0.657 5 22 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57080648 57080648 + Missense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:57080648T>A uc001njr.2 - 4 1826 c.1514A>T c.(1513-1515)GAG>GTG p.E505V TNKS1BP1_uc001njs.2_Missense_Mutation_p.E505V|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 505 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) CTCGGCGGCCTCACTGGCTTC 0.647 5 19 --- --- --- --- PASS STX5 6811 broad.mit.edu 37 11 62595044 62595044 + Silent SNP G A A rs149057421 by1000genomes TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:62595044G>A uc001nvh.2 - 3 439 c.285C>T c.(283-285)ACC>ACT p.T95T STX5_uc010rmi.1_5'UTR|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Silent_p.T41T|STX5_uc010rmj.1_Silent_p.T95T|STX5_uc001nvj.2_Intron NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 95 Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 TGGCCATGAGGGTGAATTCAC 0.483 41 44 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121008472 121008472 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:121008472G>T uc010rzo.1 + 10 3284 c.3284G>T c.(3283-3285)CGC>CTC p.R1095L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1095 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGCCAAGCCCGCACCGACGCC 0.577 20 30 --- --- --- --- PASS PKNOX2 63876 broad.mit.edu 37 11 125267941 125267941 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:125267941A>G uc001qbu.2 + 7 885 c.571A>G c.(571-573)ATC>GTC p.I191V PKNOX2_uc010saz.1_Missense_Mutation_p.I162V|PKNOX2_uc010sba.1_Missense_Mutation_p.I162V|PKNOX2_uc010sbb.1_Missense_Mutation_p.I127V NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 191 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CCAGCCCTCCATCAACCTTCA 0.572 59 47 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 441100 441100 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr12:441100T>C uc001qif.1 - 13 2021 c.1658A>G c.(1657-1659)TAC>TGC p.Y553C KDM5A_uc001qie.1_Missense_Mutation_p.Y553C|KDM5A_uc010sdn.1_Missense_Mutation_p.Y512C|KDM5A_uc010sdo.1_Missense_Mutation_p.Y172C NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 553 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 ATTGGTCCTGTACACCTAAAT 0.373 T NUP98 AML 27 46 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22659657 22659657 + Missense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr12:22659657T>A uc001rfq.2 - 10 1363 c.1135A>T c.(1135-1137)ATC>TTC p.I379F KIAA0528_uc010sir.1_Missense_Mutation_p.I172F|KIAA0528_uc010sis.1_Missense_Mutation_p.I379F|KIAA0528_uc010sit.1_Missense_Mutation_p.I381F|KIAA0528_uc010siu.1_Missense_Mutation_p.I379F|KIAA0528_uc001rfr.2_Missense_Mutation_p.I370F|KIAA0528_uc009ziy.1_Missense_Mutation_p.I381F NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 379 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GGATTGTGGATACGATCCAAA 0.338 60 112 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22676435 22676435 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr12:22676435G>A uc001rfq.2 - 7 953 c.725C>T c.(724-726)GCG>GTG p.A242V KIAA0528_uc010sir.1_Missense_Mutation_p.A44V|KIAA0528_uc010sis.1_Missense_Mutation_p.A242V|KIAA0528_uc010sit.1_Missense_Mutation_p.A242V|KIAA0528_uc010siu.1_Missense_Mutation_p.A242V|KIAA0528_uc001rfr.2_Missense_Mutation_p.A242V|KIAA0528_uc009ziy.1_Missense_Mutation_p.A242V NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 242 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CAGAGTACACGCCGTTCCTAT 0.438 13 60 --- --- --- --- PASS MYO1A 4640 broad.mit.edu 37 12 57437912 57437912 + Missense_Mutation SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr12:57437912G>C uc001smw.3 - 9 965 c.722C>G c.(721-723)GCC>GGC p.A241G MYO1A_uc010sqz.1_Missense_Mutation_p.A79G|MYO1A_uc009zpd.2_Missense_Mutation_p.A241G NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 241 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 GAAGCTGGAGGCGTCGTCCAT 0.572 41 42 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78510561 78510561 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr12:78510561C>T uc001syp.2 + 13 2819 c.2646C>T c.(2644-2646)GAC>GAT p.D882D NAV3_uc001syo.2_Silent_p.D882D|NAV3_uc010sub.1_Silent_p.D382D|NAV3_uc009zsf.2_5'Flank NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 882 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCTGGGATGACAGCAGTTCAG 0.453 HNSCC(70;0.22) 42 51 --- --- --- --- PASS RASSF9 9182 broad.mit.edu 37 12 86198647 86198647 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr12:86198647T>C uc001taf.1 - 2 1480 c.1141A>G c.(1141-1143)AGA>GGA p.R381G NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 381 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 TCCTTCGCTCTGTTTTCCTTT 0.423 120 127 --- --- --- --- PASS KCTD10 83892 broad.mit.edu 37 12 109894110 109894110 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr12:109894110T>C uc001toi.1 - 6 624 c.536A>G c.(535-537)GAC>GGC p.D179G KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Intron|KCTD10_uc001toj.1_Missense_Mutation_p.D188G|KCTD10_uc001tok.1_5'UTR NM_031954 NP_114160 Q9H3F6 BACD3_HUMAN potassium channel tetramerisation domain 179 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 CATATTGTCGTCAGAATTGCT 0.313 20 74 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32841387 32841387 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr13:32841387C>A uc001utx.2 + 55 8523 c.8027C>A c.(8026-8028)GCC>GAC p.A2676D FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.A231D|FRY_uc001utz.2_Missense_Mutation_p.A201D|FRY_uc010tdx.1_Missense_Mutation_p.A46D NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2676 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CAGCCCGCAGCCTGTGACGAT 0.557 34 134 --- --- --- --- PASS ATP7B 540 broad.mit.edu 37 13 52535998 52535998 + Silent SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr13:52535998A>G uc001vfw.2 - 6 2078 c.1921T>C c.(1921-1923)TTG>CTG p.L641L ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Silent_p.L530L|ATP7B_uc010tgt.1_Silent_p.L641L|ATP7B_uc010tgu.1_Silent_p.L641L|ATP7B_uc010tgv.1_Silent_p.L641L|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_5'UTR|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 641 Cytoplasmic (Potential). L -> S (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TTGTGGTCCAAGTGATGAGCG 0.478 Wilson_disease 101 68 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113526056 113526056 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr13:113526056G>A uc001vsi.3 + 26 3087 c.2999G>A c.(2998-3000)GGA>GAA p.G1000E ATP11A_uc001vsj.3_Missense_Mutation_p.G1000E|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1000 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CAGATATTTGGAAACTGGACG 0.408 55 847 --- --- --- --- PASS POLE2 5427 broad.mit.edu 37 14 50117145 50117145 + Missense_Mutation SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr14:50117145G>C uc001wwu.2 - 17 1349 c.1335C>G c.(1333-1335)ATC>ATG p.I445M SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.I159M|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.I160M NM_002692 NP_002683 P56282 DPOE2_HUMAN DNA-directed DNA polymerase epsilon 2 445 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity ovary(1)|skin(1) 2 all_epithelial(31;0.0021)|Breast(41;0.0124) CTTGGGATAAGATAGTCTTTA 0.358 24 61 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64465690 64465690 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr14:64465690A>G uc001xgm.2 + 27 3642 c.3412A>G c.(3412-3414)ACT>GCT p.T1138A SYNE2_uc001xgl.2_Missense_Mutation_p.T1138A NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1138 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTCAGGATTACTTCTGATTT 0.338 63 64 --- --- --- --- PASS TECPR2 9895 broad.mit.edu 37 14 102910044 102910044 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr14:102910044C>T uc001ylw.1 + 12 2961 c.2813C>T c.(2812-2814)TCC>TTC p.S938F TECPR2_uc010awl.2_Missense_Mutation_p.S938F|TECPR2_uc010txx.1_Missense_Mutation_p.S101F NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 938 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 TACCCGCTGTCCCAGATCACA 0.622 47 71 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48527109 48527109 + Missense_Mutation SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr15:48527109A>T uc001zwn.3 + 9 1339 c.1123A>T c.(1123-1125)ACA>TCA p.T375S SLC12A1_uc010uew.1_Missense_Mutation_p.T181S|SLC12A1_uc010bem.2_Missense_Mutation_p.T375S|SLC12A1_uc010uex.1_Missense_Mutation_p.T375S|SLC12A1_uc001zwq.3_Missense_Mutation_p.T146S|SLC12A1_uc001zwr.3_Missense_Mutation_p.T102S NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 375 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCCACGCTTCACAAAGGGTGA 0.398 64 57 --- --- --- --- PASS TLE3 7090 broad.mit.edu 37 15 70344823 70344823 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr15:70344823G>T uc002asm.2 - 18 3143 c.2024C>A c.(2023-2025)GCT>GAT p.A675D TLE3_uc002ask.2_Missense_Mutation_p.A602D|TLE3_uc002asl.2_Missense_Mutation_p.A675D|TLE3_uc010ukd.1_Missense_Mutation_p.A665D|TLE3_uc010bik.1_Missense_Mutation_p.A256D|TLE3_uc010bil.1_Missense_Mutation_p.A672D|TLE3_uc002asn.2_Missense_Mutation_p.A663D|TLE3_uc002asp.2_Missense_Mutation_p.A667D|TLE3_uc002aso.2_Missense_Mutation_p.A670D NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 675 WD 5. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 CATGCCCACAGCCAGCCACTC 0.617 17 9 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79339153 79339153 + Silent SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr15:79339153C>G uc002beq.2 - 5 1188 c.813G>C c.(811-813)CGG>CGC p.R271R RASGRF1_uc002bep.2_Silent_p.R271R|RASGRF1_uc010blm.1_Silent_p.R193R|RASGRF1_uc002ber.3_Silent_p.R271R NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 271 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGGCGGCCATCCGCAGCGGGC 0.592 81 65 --- --- --- --- PASS RPS2 6187 broad.mit.edu 37 16 2012182 2012182 + Nonsense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:2012182G>A uc002cnn.2 - 6 987 c.799C>T c.(799-801)CAG>TAG p.Q267* RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Nonsense_Mutation_p.Q209*|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Nonsense_Mutation_p.Q267*|SNHG9_uc002cnr.2_5'Flank NM_002952 NP_002943 P15880 RS2_HUMAN ribosomal protein S2 267 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome 0 GTGAACTCCTGATAGGGAGAC 0.512 39 75 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2142539 2142539 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:2142539C>T uc002cos.1 - 39 11420 c.11211G>A c.(11209-11211)GGG>GGA p.G3737G PKD1_uc002cot.1_Silent_p.G3736G|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 3737 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 TGGACTGGTTCCCGTGGACGT 0.662 14 20 --- --- --- --- PASS PRSS22 64063 broad.mit.edu 37 16 2903228 2903228 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:2903228C>A uc002cry.1 - 6 886 c.820G>T c.(820-822)GTC>TTC p.V274F PRSS22_uc002crz.1_Missense_Mutation_p.V164F NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 274 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 CTGATGTAGACCCCGGGCCTG 0.726 19 65 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3641121 3641121 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:3641121C>G uc002cvp.2 - 12 3145 c.2518G>C c.(2518-2520)GAA>CAA p.E840Q NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 840 Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TGATCTTCTTCGTGGTCCTTG 0.468 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 81 177 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3795299 3795299 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:3795299T>C uc002cvv.2 - 22 4097 c.3893A>G c.(3892-3894)TAT>TGT p.Y1298C CREBBP_uc002cvw.2_Missense_Mutation_p.Y1260C NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1298 Cys/His-rich. 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) AATGATGTCATAGTGCAGAAC 0.537 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 15 56 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3820624 3820624 + Nonsense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:3820624G>A uc002cvv.2 - 14 3031 c.2827C>T c.(2827-2829)CAG>TAG p.Q943* CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q905* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 943 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) TGCGATGACTGAGGGGTAGCC 0.622 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 96 129 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16146661 16146661 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:16146661C>T uc010bvi.2 + 11 1636 c.1461C>T c.(1459-1461)ACC>ACT p.T487T ABCC1_uc010bvj.2_Silent_p.T487T|ABCC1_uc010bvk.2_Silent_p.T487T|ABCC1_uc010bvl.2_Silent_p.T487T|ABCC1_uc010bvm.2_Silent_p.T487T|ABCC1_uc002del.3_Silent_p.T371T|ABCC1_uc010bvn.2_Silent_p.T350T NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 487 Cytoplasmic.|ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CGATGAAGACCAAGACGTATC 0.572 21 65 --- --- --- --- PASS CRYM 1428 broad.mit.edu 37 16 21279036 21279036 + Missense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:21279036T>A uc002dik.2 - 5 597 c.512A>T c.(511-513)AAA>ATA p.K171I CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.K129I|CRYM_uc002dim.2_Missense_Mutation_p.K171I NM_001888 NP_001879 Q14894 CRYM_HUMAN crystallin, mu isoform 1 171 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) TGCATTTTCTTTGGTGCGGTT 0.507 52 92 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75146775 75146775 + Silent SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr16:75146775G>T uc002fdm.2 - 9 1250 c.1203C>A c.(1201-1203)ATC>ATA p.I401I LDHD_uc002fdn.2_Silent_p.I378I NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 401 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 TCTGCACCACGATCTCCGGCA 0.617 20 24 --- --- --- --- PASS C17orf81 23587 broad.mit.edu 37 17 7160277 7160277 + Missense_Mutation SNP G A A rs3190365 TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr17:7160277G>A uc002gfg.1 + 6 666 c.559G>A c.(559-561)GAG>AAG p.E187K C17orf81_uc002gfj.2_Missense_Mutation_p.E187K|C17orf81_uc010cmb.2_Missense_Mutation_p.E187K|C17orf81_uc002gfh.1_Missense_Mutation_p.E187K|C17orf81_uc002gfi.1_Missense_Mutation_p.E187K|C17orf81_uc002gfl.1_Missense_Mutation_p.E187K NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 TGCTCAGACTGAGGTGACCCT 0.612 30 17 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10401181 10401181 + Missense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr17:10401181T>A uc002gmo.2 - 31 4329 c.4235A>T c.(4234-4236)AAT>ATT p.N1412I uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1412 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 ACATTTGGCATTCACAGCTTC 0.483 54 46 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10427843 10427843 + Silent SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr17:10427843T>C uc010coi.2 - 35 5243 c.5115A>G c.(5113-5115)AGA>AGG p.R1705R uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.R1705R|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1705 Potential. 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 CTGCGATTTTTCTGCTCCTCT 0.542 72 82 --- --- --- --- PASS FLII 2314 broad.mit.edu 37 17 18149623 18149623 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr17:18149623G>A uc002gsr.1 - 24 3256 c.3205C>T c.(3205-3207)CGG>TGG p.R1069W FLII_uc002gsq.1_Missense_Mutation_p.R940W|FLII_uc010cpy.1_Missense_Mutation_p.R1058W|FLII_uc010vxn.1_Missense_Mutation_p.R1038W|FLII_uc010vxo.1_Missense_Mutation_p.R1014W NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 1069 Gelsolin-like 4. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) GCCAGGCACCGGGTGCAGAGG 0.652 5 89 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73732371 73732371 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr17:73732371C>T uc002jpg.2 + 15 1951 c.1764C>T c.(1762-1764)GGC>GGT p.G588G ITGB4_uc002jph.2_Silent_p.G588G|ITGB4_uc010dgo.2_Silent_p.G588G|ITGB4_uc002jpi.3_Silent_p.G588G|ITGB4_uc010dgp.1_Silent_p.G588G|ITGB4_uc002jpj.2_Silent_p.G588G|ITGB4_uc010wsh.1_Silent_p.G143G NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 588 Cysteine-rich tandem repeats.|Extracellular (Potential).|IV. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TACCCCAGGGCATCTGTAATG 0.627 68 47 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6980547 6980547 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr18:6980547G>A uc002knm.2 - 42 6074 c.5980C>T c.(5980-5982)CTC>TTC p.L1994F LAMA1_uc010wzj.1_Missense_Mutation_p.L1470F NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1994 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTATCAAGAGTGATTCATTG 0.353 15 68 --- --- --- --- PASS PLIN4 729359 broad.mit.edu 37 19 4511803 4511803 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:4511803C>G uc002mar.1 - 3 2127 c.2127G>C c.(2125-2127)AAG>AAC p.K709N PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 709 19.|27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane 0 TTAGGACAGTCTTGGTGGTGT 0.592 71 444 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9577783 9577783 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:9577783C>G uc002mlp.1 - 10 2050 c.1840G>C c.(1840-1842)GAT>CAT p.D614H ZNF560_uc010dwr.1_Missense_Mutation_p.D508H NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 614 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TTAGTAAGATCTGAGCGTTCT 0.408 53 160 --- --- --- --- PASS ZSWIM4 65249 broad.mit.edu 37 19 13928130 13928130 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:13928130C>T uc002mxh.1 + 7 1470 c.1281C>T c.(1279-1281)GCC>GCT p.A427A ZSWIM4_uc010xng.1_Silent_p.A350A NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 427 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TCCTGGAGGCCTGTCGTCTGG 0.642 49 64 --- --- --- --- PASS PGLYRP2 114770 broad.mit.edu 37 19 15587093 15587093 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:15587093C>T uc002nbf.3 - 2 521 c.388G>A c.(388-390)GCA>ACA p.A130T PGLYRP2_uc002nbg.3_Missense_Mutation_p.A130T NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 130 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 TGCAGCCCTGCCTCCAGCCCC 0.612 32 84 --- --- --- --- PASS ZNF430 80264 broad.mit.edu 37 19 21216941 21216941 + Silent SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:21216941A>T uc002npj.2 + 4 383 c.273A>T c.(271-273)GGA>GGT p.G91G ZNF430_uc002npk.2_Silent_p.G90G NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 91 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 TAGAGCAAGGAAAAGAGCCCT 0.408 56 61 --- --- --- --- PASS ANKRD27 84079 broad.mit.edu 37 19 33113388 33113388 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:33113388C>T uc002ntn.1 - 18 1923 c.1767G>A c.(1765-1767)GCG>GCA p.A589A NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 589 ANK 5. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) TCTCGGTGGACGCTCCGTTCT 0.527 237 359 --- --- --- --- PASS SLC7A10 56301 broad.mit.edu 37 19 33703303 33703303 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:33703303G>A uc002num.2 - 5 830 c.683C>T c.(682-684)ACG>ATG p.T228M SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Missense_Mutation_p.T201M NM_019849 NP_062823 Q9NS82 AAA1_HUMAN solute carrier family 7, member 10 228 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(110;0.137) CACGGAGGGCGTCATCCAGAA 0.627 38 68 --- --- --- --- PASS WDR62 284403 broad.mit.edu 37 19 36557157 36557157 + Splice_Site SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:36557157A>G uc002odc.2 + 5 482 c.391_splice c.e5-2 p.N131_splice WDR62_uc002odd.2_Splice_Site_p.N131_splice|WDR62_uc002odb.2_Splice_Site_p.N131_splice NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CACCTTCCCTAGAATGGGCAT 0.582 34 98 --- --- --- --- PASS ZNF570 148268 broad.mit.edu 37 19 37975983 37975983 + Missense_Mutation SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:37975983C>G uc002ogk.1 + 5 1988 c.1459C>G c.(1459-1461)CAA>GAA p.Q487E ZNF570_uc010efl.1_Missense_Mutation_p.Q543E|ZNF570_uc010xtr.1_Missense_Mutation_p.Q284E NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 487 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATCCCTTGCCCAACATCAGAG 0.433 33 163 --- --- --- --- PASS PSG8 440533 broad.mit.edu 37 19 43262355 43262355 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:43262355C>T uc002ouo.2 - 3 606 c.508G>A c.(508-510)GAT>AAT p.D170N PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.D9N|PSG8_uc002ouh.2_Missense_Mutation_p.D170N|PSG8_uc010ein.2_Missense_Mutation_p.D48N|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.D9N|PSG8_uc002oul.3_Missense_Mutation_p.D170N|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 170 Ig-like C2-type 1. extracellular region 0 Prostate(69;0.00899) GTCTCAGGATCACAGGTTAAG 0.532 90 526 --- --- --- --- PASS KCNN4 3783 broad.mit.edu 37 19 44273660 44273660 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:44273660T>G uc002oxl.2 - 6 1379 c.983A>C c.(982-984)CAT>CCT p.H328P KCNN4_uc010eiz.2_Intron NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 328 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CCTGCGAGTATGTTTGTAGAA 0.582 33 204 --- --- --- --- PASS ZNF765 91661 broad.mit.edu 37 19 53912214 53912214 + Missense_Mutation SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:53912214A>G uc010ydx.1 + 6 1733 c.1406A>G c.(1405-1407)AAT>AGT p.N469S ZNF765_uc002qbm.2_Missense_Mutation_p.N469S|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 469 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) TACAAGTGTAATGAGTGTGGC 0.378 53 159 --- --- --- --- PASS KIR2DL1 3802 broad.mit.edu 37 19 55290069 55290069 + Missense_Mutation SNP C A A rs113506642 TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:55290069C>A uc002qhb.1 + 5 708 c.670C>A c.(670-672)CCT>ACT p.P224T KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.P224T NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 224 Extracellular (Potential). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) TCTAGGAAACCCTTCAAATAG 0.498 42 138 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56320484 56320484 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:56320484G>T uc010ygf.1 - 5 2203 c.1492C>A c.(1492-1494)CTT>ATT p.L498I NLRP11_uc002qlz.2_Missense_Mutation_p.L399I|NLRP11_uc002qmb.2_Missense_Mutation_p.L399I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 498 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GCATTTAGAAGACCAAAAATG 0.418 74 222 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56443411 56443411 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr19:56443411G>T uc010ygg.1 - 1 292 c.267C>A c.(265-267)TTC>TTA p.F89L NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 89 DAPIN. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCATTGTCTGGAAGATGCCGA 0.507 72 120 --- --- --- --- PASS DEFB125 245938 broad.mit.edu 37 20 77049 77049 + Silent SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr20:77049T>A uc002wcw.2 + 2 462 c.462T>A c.(460-462)ACT>ACA p.T154T NM_153325 NP_697020 Q8N687 DB125_HUMAN defensin, beta 125 preproprotein 154 defense response to bacterium extracellular region ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) CAGCTCTTACTCATAATTAAT 0.423 75 411 --- --- --- --- PASS MAVS 57506 broad.mit.edu 37 20 3842088 3842088 + Missense_Mutation SNP A T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr20:3842088A>T uc002wjw.3 + 4 571 c.402A>T c.(400-402)AGA>AGT p.R134S MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 134 Pro-rich.|Cytoplasmic (Probable). activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 ACAGCTGCAGAGAGAAGGAGC 0.627 10 188 --- --- --- --- PASS CDH22 64405 broad.mit.edu 37 20 44806640 44806640 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr20:44806640G>A uc002xrm.2 - 10 2261 c.1860C>T c.(1858-1860)GCC>GCT p.A620A CDH22_uc010ghk.1_Silent_p.A620A NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 620 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) GGCTGAGGGAGGCGGCCATGA 0.647 32 13 --- --- --- --- PASS CYP24A1 1591 broad.mit.edu 37 20 52779309 52779309 + Missense_Mutation SNP T G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr20:52779309T>G uc002xwv.2 - 7 1335 c.937A>C c.(937-939)AAG>CAG p.K313Q CYP24A1_uc002xwu.1_Missense_Mutation_p.K171Q|CYP24A1_uc002xww.2_Missense_Mutation_p.K313Q NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 313 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) AATTCTTTCTTTGAAAGCCGA 0.453 58 41 --- --- --- --- PASS SLC2A4RG 56731 broad.mit.edu 37 20 62373567 62373567 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr20:62373567C>T uc002ygq.2 + 5 719 c.664C>T c.(664-666)CGC>TGC p.R222C SLC2A4RG_uc002ygr.2_Missense_Mutation_p.R117C|SLC2A4RG_uc011abj.1_Missense_Mutation_p.R117C|SLC2A4RG_uc002ygs.2_Missense_Mutation_p.R24C|SLC2A4RG_uc002ygt.2_Missense_Mutation_p.R24C NM_020062 NP_064446 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 222 C2H2-type. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GAGACACATCCGCCTGGTGCA 0.706 12 6 --- --- --- --- PASS ITSN1 6453 broad.mit.edu 37 21 35183447 35183447 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr21:35183447C>T uc002yta.1 + 21 2756 c.2488C>T c.(2488-2490)CGT>TGT p.R830C DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.R825C|ITSN1_uc010gmg.2_Missense_Mutation_p.R788C|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.R830C|ITSN1_uc010gmi.2_Missense_Mutation_p.R793C|ITSN1_uc010gmj.2_Missense_Mutation_p.R709C|ITSN1_uc002ysy.2_Missense_Mutation_p.R825C|ITSN1_uc002ysx.2_Missense_Mutation_p.R788C|ITSN1_uc002ytb.1_Missense_Mutation_p.R825C|ITSN1_uc002ytc.1_Missense_Mutation_p.R825C|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.R793C|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.R825C|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.R764C|ITSN1_uc002ytf.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 830 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 ACTGGCCTTGCGTGAGACCCC 0.557 55 105 --- --- --- --- PASS KRTAP12-4 386684 broad.mit.edu 37 21 46074476 46074476 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr21:46074476C>T uc002zfs.1 - 1 101 c.56G>A c.(55-57)TGC>TAC p.C19Y C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198698 NP_941971 P60329 KR124_HUMAN keratin associated protein 12-4 19 15 X 5 AA approximate repeats. keratin filament ovary(1) 1 GGGGACACAGCACGGGGAGCC 0.677 10 12 --- --- --- --- PASS COL18A1 80781 broad.mit.edu 37 21 46896339 46896339 + Silent SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr21:46896339G>T uc011afs.1 + 5 2139 c.2118G>T c.(2116-2118)ACG>ACT p.T706T COL18A1_uc002zhg.2_Silent_p.T291T|COL18A1_uc002zhi.2_Silent_p.T471T NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 706 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCAGCAGCACGGAAGATTCCA 0.547 23 47 --- --- --- --- PASS CCDC116 164592 broad.mit.edu 37 22 21988525 21988525 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr22:21988525G>T uc002zve.2 + 3 380 c.287G>T c.(286-288)CGC>CTC p.R96L CCDC116_uc011aih.1_Missense_Mutation_p.R96L NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 96 Potential. ovary(1)|skin(1) 2 Colorectal(54;0.105) GCGACTGAGCGCATGGCTGCC 0.632 41 85 --- --- --- --- PASS SBF1 6305 broad.mit.edu 37 22 50897990 50897990 + Silent SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr22:50897990G>A uc003blh.2 - 27 3792 c.3597C>T c.(3595-3597)AGC>AGT p.S1199S SBF1_uc011arx.1_Silent_p.S863S NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1199 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGGACCGCCCGCTGCGCCAGC 0.672 34 19 --- --- --- --- PASS DHRSX 207063 broad.mit.edu 37 X 2161101 2161101 + Missense_Mutation SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:2161101C>T uc004cqf.3 - 6 816 c.767G>A c.(766-768)CGT>CAT p.R256H NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 256 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTTCGCCAGACGGGTGGCCCA 0.552 40 164 --- --- --- --- PASS HCCS 3052 broad.mit.edu 37 X 11133044 11133044 + Missense_Mutation SNP G T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:11133044G>T uc004cuk.2 + 3 456 c.190G>T c.(190-192)GTG>TTG p.V64L HCCS_uc004cuj.2_Missense_Mutation_p.V64L|HCCS_uc004cul.1_Missense_Mutation_p.V64L NM_005333 NP_005324 P53701 CCHL_HUMAN holocytochrome c synthase 64 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding 0 CTATGAGTACGTGGAGTGTCC 0.478 48 47 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32486704 32486704 + Missense_Mutation SNP T A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:32486704T>A uc004dda.1 - 23 3317 c.3073A>T c.(3073-3075)ATT>TTT p.I1025F DMD_uc004dcz.2_Missense_Mutation_p.I902F|DMD_uc004dcy.1_Missense_Mutation_p.I1021F|DMD_uc004ddb.1_Missense_Mutation_p.I1017F|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1025 Spectrin 6. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CGTCCCTCAATTTCTTCAAAT 0.428 3 36 --- --- --- --- PASS SLC9A7 84679 broad.mit.edu 37 X 46502717 46502717 + Missense_Mutation SNP T C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:46502717T>C uc004dgu.1 - 12 1575 c.1567A>G c.(1567-1569)ATC>GTC p.I523V NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 523 Helical; (Potential). regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 CCTCCAATGATCCAGACAGTG 0.502 15 15 --- --- --- --- PASS CXorf26 51260 broad.mit.edu 37 X 75394775 75394775 + Silent SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:75394775C>G uc004ecl.1 + 3 350 c.147C>G c.(145-147)GTC>GTG p.V49V NM_016500 NP_057584 Q9BVG4 CX026_HUMAN hypothetical protein LOC51260 49 0 ATGCTGAAGTCTATTACAAGG 0.403 8 43 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83362035 83362035 + Silent SNP C T T TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:83362035C>T uc004eej.1 - 14 1202 c.1125G>A c.(1123-1125)TTG>TTA p.L375L RPS6KA6_uc011mqt.1_Silent_p.L375L|RPS6KA6_uc011mqu.1_Silent_p.L272L NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 375 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 CACTGGCTGGCAAACCGGGAG 0.333 22 19 --- --- --- --- PASS DACH2 117154 broad.mit.edu 37 X 86068160 86068160 + Missense_Mutation SNP G A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:86068160G>A uc004eew.2 + 9 1587 c.1417G>A c.(1417-1419)GCT>ACT p.A473T DACH2_uc004eex.2_Missense_Mutation_p.A460T|DACH2_uc010nmq.2_Missense_Mutation_p.A339T|DACH2_uc011mra.1_Missense_Mutation_p.A306T|DACH2_uc010nmr.2_Missense_Mutation_p.A254T|DACH2_uc004eey.2_Missense_Mutation_p.A166T|DACH2_uc004eez.2_Missense_Mutation_p.A156T NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 473 Potential.|DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 TTTGGATAATGCTCGCATCCA 0.368 9 7 --- --- --- --- PASS MIR18B 574033 broad.mit.edu 37 X 133304114 133304114 + RNA SNP C G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:133304114C>G hsa-mir-18b|MI0001518 - c.28C>G MIR363_hsa-mir-363|MI0000764_5'Flank|MIR92A2_hsa-mir-92a-2|MI0000094_5'Flank|uc004exf.2_5'Flank|uc011mvi.1_5'Flank|MIR19B2_hsa-mir-19b-2|MI0000075_5'Flank|MIR20B_hsa-mir-20b|MI0001519_5'Flank 0 AGCTGCTTCACTAACTGCACT 0.398 21 18 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138714595 138714595 + Silent SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:138714595A>G uc004fau.2 - 2 364 c.70T>C c.(70-72)TTG>CTG p.L24L MCF2_uc004fav.2_Silent_p.L24L|MCF2_uc011mwl.1_Silent_p.L24L|MCF2_uc010nsh.1_Silent_p.L24L|MCF2_uc011mwm.1_Silent_p.L24L|MCF2_uc011mwn.1_Silent_p.L169L|MCF2_uc004faw.2_Silent_p.L84L|MCF2_uc011mwo.1_Silent_p.L84L NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 24 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) ACCAAGTGCAAGTTCCCAGGG 0.373 26 21 --- --- --- --- PASS ATP11C 286410 broad.mit.edu 37 X 138867415 138867415 + Missense_Mutation SNP G C C TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:138867415G>C uc004faz.2 - 16 1744 c.1645C>G c.(1645-1647)CGT>GGT p.R549G ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.R549G NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 549 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) ACACTCATACGTCGCCGGACA 0.343 24 28 --- --- --- --- PASS FMR1 2332 broad.mit.edu 37 X 147024824 147024824 + Silent SNP A G G TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrX:147024824A>G uc010nst.2 + 14 1638 c.1449A>G c.(1447-1449)AGA>AGG p.R483R FMR1_uc004fcj.2_Silent_p.R460R|FMR1_uc004fck.3_Silent_p.R462R|FMR1_uc004fcl.3_Silent_p.R323R|FMR1_uc011mxa.1_Silent_p.R130R NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 483 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGCACGGCAGACGCGGTCCTG 0.413 Fragile_X_syndrome 50 28 --- --- --- --- PASS UTY 7404 broad.mit.edu 37 Y 15372158 15372158 + Missense_Mutation SNP C A A TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chrY:15372158C>A uc004fsx.1 - 26 4851 c.3846G>T c.(3844-3846)GAG>GAT p.E1282D UTY_uc004fsw.1_Missense_Mutation_p.E945D|UTY_uc010nwx.1_Missense_Mutation_p.E339D NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 1282 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGTTACTCACCTCACAAATGC 0.353 55 27 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 1 243251423 243251423 + RNA DEL A - - TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr1:243251423delA uc001hzq.1 - 8 c.1209delT Homo sapiens cDNA FLJ52610 complete cds. actccatctcaaaaaaaaaaa 0.179 6 3 --- --- --- --- COLEC11 78989 broad.mit.edu 37 2 3691412 3691412 + Frame_Shift_Del DEL G - - TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr2:3691412delG uc002qya.2 + 7 668 c.520delG c.(520-522)GGGfs p.G174fs COLEC11_uc002qxz.2_Frame_Shift_Del_p.G171fs|COLEC11_uc002qyb.2_Frame_Shift_Del_p.G150fs|COLEC11_uc002qyc.2_Frame_Shift_Del_p.G150fs|COLEC11_uc010ewo.2_Frame_Shift_Del_p.G126fs|COLEC11_uc010ewp.2_Frame_Shift_Del_p.G148fs|COLEC11_uc010ewq.2_Frame_Shift_Del_p.G124fs|COLEC11_uc010ewr.2_Frame_Shift_Del_p.G124fs|COLEC11_uc010ews.2_Frame_Shift_Del_p.G100fs NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 174 C-type lectin. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CCAGGGCCGCGGGGGCACGCT 0.667 51 24 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564925 128564925 + Frame_Shift_Del DEL T - - TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr4:128564925delT uc003ifk.1 + 2 466 c.396delT c.(394-396)AATfs p.N132fs INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 132 ovary(1) 1 ATAAAAAAAATAGCAATGACA 0.348 49 58 --- --- --- --- MAMDC4 158056 broad.mit.edu 37 9 139753544 139753545 + Frame_Shift_Ins INS - G G rs142983311 by1000genomes TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr9:139753544_139753545insG uc004cjs.2 + 24 3094_3095 c.3044_3045insG c.(3043-3045)CTGfs p.L1015fs MAMDC4_uc011mej.1_Frame_Shift_Ins_p.L352fs NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 1094 Extracellular (Potential).|MAM 6. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CACCAGTGGCTGGAGGCCCAGG 0.668 5 3 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA - - rs144216147 TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr11:1651191_1651199delGGCTGTGGA uc001lty.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)GGCTGTGGAdel p.GCG47del NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47_49 keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.129 15 14 --- --- --- --- THAP10 56906 broad.mit.edu 37 15 71184606 71184613 + Translation_Start_Site DEL CGGCATGG - - TCGA-21-1081-01A-01D-1521-08 TCGA-21-1081-10B-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 811f7a11-635c-4606-91fd-3729b97ffd8e 87fc0d2a-378d-4eee-b72a-860750d15af2 g.chr15:71184606_71184613delCGGCATGG uc002asv.2 - 1 LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank NM_020147 NP_064532 Q9P2Z0 THA10_HUMAN THAP domain containing 10 DNA binding|metal ion binding ovary(1)|skin(1) 2 CACAACGGGCCGGCATGGCGGCCGTCTT 0.707 5 3 --- --- --- ---