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 AGRN 375790 broad.mit.edu 37 1 977425 977425 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:977425G>T uc001ack.1 + 7 1317 c.1267G>T c.(1267-1269)GGG>TGG p.G423W NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 423 Kazal-like 4. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CACCTGTGACGGGGCCTACAG 0.697 17 4 --- --- --- --- PASS CCNL2 81669 broad.mit.edu 37 1 1325625 1325625 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:1325625G>C uc001afi.2 - 8 1023 c.991C>G c.(991-993)CCT>GCT p.P331A CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.P109A|CCNL2_uc001afg.1_Missense_Mutation_p.P109A|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 331 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TTGGGGGCAGGAGAGAACCCC 0.587 6 70 --- --- --- --- PASS CCNL2 81669 broad.mit.edu 37 1 1325636 1325636 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:1325636G>A uc001afi.2 - 8 1012 c.980C>T c.(979-981)TCG>TTG p.S327L CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.S105L|CCNL2_uc001afg.1_Missense_Mutation_p.S105L|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 327 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) AGAGAACCCCGAGGTACCATC 0.592 8 72 --- --- --- --- PASS CDK11A 728642 broad.mit.edu 37 1 1636454 1636454 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:1636454C>A uc009vks.2 - 13 1455 c.1347G>T c.(1345-1347)GTG>GTT p.V449V CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Silent_p.V66V|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.V439V|CDK11A_uc010nys.1_Silent_p.V439V|CDK11A_uc010nyt.1_Silent_p.V449V NM_024011 NP_076916 Q9UQ88 CD11A_HUMAN cell division cycle 2-like 2 isoform 1 452 Protein kinase. apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding stomach(1) 1 GCTTTAGAGCCACAATTTCAT 0.532 6 129 --- --- --- --- PASS CHD5 26038 broad.mit.edu 37 1 6206373 6206373 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:6206373C>A uc001amb.1 - 11 1801 c.1701G>T c.(1699-1701)AAG>AAT p.K567N CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 567 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGTTCTTCCTCTTCTCGCTCT 0.527 5 52 --- --- --- --- PASS TNFRSF9 3604 broad.mit.edu 37 1 7995201 7995201 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:7995201C>A uc001aot.2 - 6 544 c.416G>T c.(415-417)TGT>TTT p.C139F NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 139 Extracellular (Potential).|TNFR-Cys 4. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) ATCCAAAGAACAGCTTAGACA 0.433 5 32 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11589653 11589653 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:11589653G>C uc001ash.3 + 14 2977 c.2839G>C c.(2839-2841)GGG>CGG p.G947R NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 947 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCCCTTCCACGGGCGCGTATG 0.627 8 41 --- --- --- --- PASS MUL1 79594 broad.mit.edu 37 1 20827489 20827489 + Silent SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:20827489T>A uc001bdi.3 - 4 910 c.753A>T c.(751-753)ACA>ACT p.T251T NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 251 Helical; (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) GGGTGGCACATGTGGCAAAGC 0.592 11 62 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23236992 23236992 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:23236992G>A uc009vqj.1 + 14 2765 c.2620G>A c.(2620-2622)GGC>AGC p.G874S EPHB2_uc001bge.2_Missense_Mutation_p.G875S|EPHB2_uc001bgf.2_Missense_Mutation_p.G874S|EPHB2_uc010odu.1_Missense_Mutation_p.G816S NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 874 Cytoplasmic (Potential).|Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GCCCAAGTTCGGCCAAATTGT 0.627 Hereditary_Prostate_Cancer 8 21 --- --- --- --- PASS ASAP3 55616 broad.mit.edu 37 1 23763444 23763444 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:23763444T>A uc001bha.2 - 15 1560 c.1436A>T c.(1435-1437)CAG>CTG p.Q479L ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.Q348L|ASAP3_uc010oea.1_Missense_Mutation_p.Q470L|ASAP3_uc001bhb.2_Missense_Mutation_p.Q2L NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 479 Arf-GAP. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 GGTGAGTGACTGCATGCGCGA 0.657 3 6 --- --- --- --- PASS HMGCL 3155 broad.mit.edu 37 1 24143192 24143192 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:24143192G>T uc001bib.2 - 4 365 c.321C>A c.(319-321)ACC>ACA p.T107T HMGCL_uc010oec.1_Silent_p.T107T|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.T82T|HMGCL_uc009vqs.1_Silent_p.T107T|HMGCL_uc001bid.1_Silent_p.T107T NM_000191 NP_000182 P35914 HMGCL_HUMAN 3-hydroxy-3-methylglutaryl CoA lyase isoform 1 107 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) TCAAATTTGGGGTCAGGACTG 0.517 7 145 --- --- --- --- PASS MYOM3 127294 broad.mit.edu 37 1 24418729 24418729 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:24418729G>T uc001bin.3 - 11 1330 c.1167C>A c.(1165-1167)CTC>CTA p.L389L MYOM3_uc001bim.3_Silent_p.L46L|MYOM3_uc001bio.2_Silent_p.L389L|MYOM3_uc001bip.1_Silent_p.L46L NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 389 Fibronectin type-III 1. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) AAGTCAGGATGAGGCAGTCTC 0.657 4 15 --- --- --- --- PASS COL16A1 1307 broad.mit.edu 37 1 32138087 32138087 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:32138087C>A uc001btk.1 - 47 3400 c.3035G>T c.(3034-3036)GGA>GTA p.G1012V COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Missense_Mutation_p.G825V NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1012 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCCAGGATCTCCCTCACTGTT 0.597 22 19 --- --- --- --- PASS C1orf94 84970 broad.mit.edu 37 1 34667845 34667845 + Silent SNP C A A rs114850350 by1000genomes TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:34667845C>A uc001bxs.3 + 4 1260 c.861C>A c.(859-861)ACC>ACA p.T287T C1orf94_uc001bxt.2_Silent_p.T477T NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 287 protein binding 0 Myeloproliferative disorder(586;0.0393) ATCACTCTACCTTCTTGCAGT 0.552 5 63 --- --- --- --- PASS MAP7D1 55700 broad.mit.edu 37 1 36636743 36636743 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:36636743G>T uc001bzz.2 + 2 434 c.218G>T c.(217-219)GGG>GTG p.G73V MAP7D1_uc001caa.2_Missense_Mutation_p.G73V|MAP7D1_uc001cab.2_Missense_Mutation_p.G73V|MAP7D1_uc001cac.2_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 73 Pro-rich. cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) AGCCCCTCAGGGCAGGTCGGG 0.657 6 33 --- --- --- --- PASS MTF1 4520 broad.mit.edu 37 1 38323190 38323190 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:38323190G>T uc001cce.1 - 2 282 c.141C>A c.(139-141)ACC>ACA p.T47T MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 47 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TAAGAACAGTGGTCCTATCAT 0.498 5 49 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39844973 39844973 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:39844973C>A uc010oiu.1 + 18 8826 c.8695C>A c.(8695-8697)CTC>ATC p.L2899I MACF1_uc010ois.1_Missense_Mutation_p.L2397I|MACF1_uc001cda.1_Missense_Mutation_p.L2284I|MACF1_uc001cdc.1_Missense_Mutation_p.L1463I NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4464 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCAGGCTATCCTCAACAGAAT 0.478 9 248 --- --- --- --- PASS AKR1A1 10327 broad.mit.edu 37 1 46034829 46034829 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:46034829C>A uc001cod.2 + 9 1304 c.840C>A c.(838-840)ACC>ACA p.T280T AKR1A1_uc001coe.2_Silent_p.T280T|AKR1A1_uc001cof.2_Silent_p.T86T|AKR1A1_uc001cog.2_RNA NM_006066 NP_006057 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 280 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) TTGACTTCACCTTTAGCCCAG 0.473 7 72 --- --- --- --- PASS FAF1 11124 broad.mit.edu 37 1 50957443 50957443 + Missense_Mutation SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:50957443T>C uc009vyx.1 - 17 1588 c.1525A>G c.(1525-1527)AGA>GGA p.R509G FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.R509G|FAF1_uc010onc.1_Missense_Mutation_p.R267G NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 509 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TCTTGCTCTCTCTTCACATTT 0.338 15 68 --- --- --- --- PASS CC2D1B 200014 broad.mit.edu 37 1 52821867 52821867 + Missense_Mutation SNP T G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:52821867T>G uc001ctq.1 - 18 2201 c.2063A>C c.(2062-2064)CAG>CCG p.Q688P CC2D1B_uc001ctr.2_Missense_Mutation_p.Q228P|CC2D1B_uc001cts.2_Missense_Mutation_p.Q373P NM_032449 NP_115825 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 688 C2. ovary(2) 2 CCTCACAGTCTGGAATGTCTT 0.612 16 23 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57333307 57333307 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:57333307G>A uc001cyo.2 + 2 235 c.103G>A c.(103-105)GCA>ACA p.A35T NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 35 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 AGCTACACCCGCAGCAGTTAC 0.448 6 28 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57378134 57378134 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:57378134G>T uc001cyo.2 + 10 1571 c.1439G>T c.(1438-1440)CGC>CTC p.R480L NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 480 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GAGGCCAAGCGCCAGAACCTG 0.622 15 25 --- --- --- --- PASS HOOK1 51361 broad.mit.edu 37 1 60325921 60325921 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:60325921G>T uc009wad.2 + 16 1555 c.1453G>T c.(1453-1455)GAG>TAG p.E485* HOOK1_uc001czo.2_Nonsense_Mutation_p.E485*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.E443* NM_015888 NP_056972 Q9UJC3 HOOK1_HUMAN hook homolog 1 485 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding ovary(1)|breast(1) 2 all_cancers(7;0.000129) AGAAGGCTCTGAGAATGAACG 0.373 6 159 --- --- --- --- PASS NFIA 4774 broad.mit.edu 37 1 61554058 61554058 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:61554058G>T uc001czw.2 + 2 749 c.265G>T c.(265-267)GAG>TAG p.E89* NFIA_uc001czy.2_Nonsense_Mutation_p.E81*|NFIA_uc010oos.1_Nonsense_Mutation_p.E134*|NFIA_uc001czv.2_Nonsense_Mutation_p.E89* NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 89 CTF/NF-I. DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 CGAATATCGAGAGGATTTTGT 0.463 7 124 --- --- --- --- PASS L1TD1 54596 broad.mit.edu 37 1 62675520 62675520 + Silent SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:62675520A>T uc001dae.3 + 4 1376 c.1074A>T c.(1072-1074)CTA>CTT p.L358L NM_019079 NP_061952 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 358 ovary(1)|skin(1) 2 TGAGCTTCCTATTTCTTAAAG 0.383 24 116 --- --- --- --- PASS PDE4B 5142 broad.mit.edu 37 1 66379032 66379032 + Missense_Mutation SNP C G G rs12038033 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:66379032C>G uc001dcn.2 + 2 226 c.35C>G c.(34-36)GCT>GGT p.A12G PDE4B_uc009war.2_5'UTR|PDE4B_uc001dco.2_Missense_Mutation_p.A12G NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 12 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ACGGTGATGGCTGATGATGTA 0.398 16 33 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037158 75037158 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:75037158C>T uc001dgg.2 - 14 4455 c.4236G>A c.(4234-4236)GGG>GGA p.G1412G NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1412 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GCACTTCCTCCCCACTCCGTG 0.557 17 55 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75065401 75065401 + Missense_Mutation SNP A C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:75065401A>C uc001dgg.2 - 11 1923 c.1704T>G c.(1702-1704)AGT>AGG p.S568R uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.S362R NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 568 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTCCAGTTCACTCTCAGAGC 0.388 26 36 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75107029 75107029 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:75107029T>A uc001dgg.2 - 5 649 c.430A>T c.(430-432)AGT>TGT p.S144C NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 144 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GCTAACGGACTGGAATGTCCT 0.428 6 36 --- --- --- --- PASS ZZZ3 26009 broad.mit.edu 37 1 78097971 78097971 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:78097971C>A uc001dhq.2 - 5 1545 c.1069G>T c.(1069-1071)GTT>TTT p.V357F ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.V357F|ZZZ3_uc001dhp.2_Missense_Mutation_p.V357F NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 CAGTCTAGAACAGGAGATGGT 0.468 17 51 --- --- --- --- PASS WDR63 126820 broad.mit.edu 37 1 85559204 85559204 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:85559204C>A uc001dkt.2 + 9 1112 c.921C>A c.(919-921)CTC>CTA p.L307L WDR63_uc009wcl.2_Silent_p.L268L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 307 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GGAAATACCTCGCAGAAGAAG 0.388 7 158 --- --- --- --- PASS CCBL2 56267 broad.mit.edu 37 1 89414865 89414865 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:89414865T>A uc001dmp.2 - 11 1427 c.1050A>T c.(1048-1050)AGA>AGT p.R350S CCBL2_uc001dmq.2_Missense_Mutation_p.R316S|CCBL2_uc001dmr.2_Missense_Mutation_p.R186S NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 350 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCATCCGATCTCTTTTTACTT 0.408 13 24 --- --- --- --- PASS GBP1 2633 broad.mit.edu 37 1 89523674 89523674 + Splice_Site SNP C T T rs139189718 byFrequency TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:89523674C>T uc001dmx.2 - 6 1094 c.874_splice c.e6+1 p.R292_splice NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) AGGGGACTTACGAGGCCCGTT 0.423 35 39 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 93070917 93070917 + Missense_Mutation SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:93070917T>C uc001dox.2 - 16 1979 c.1969A>G c.(1969-1971)AGC>GGC p.S657G EVI5_uc010otf.1_Missense_Mutation_p.S668G|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 657 Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GCAGCTATGCTATCTGCTTCC 0.333 27 55 --- --- --- --- PASS MTF2 22823 broad.mit.edu 37 1 93602335 93602335 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:93602335G>T uc009wdj.2 + 15 1825 c.1533G>T c.(1531-1533)CAG>CAT p.Q511H MTF2_uc010oth.1_Missense_Mutation_p.Q409H|MTF2_uc009wdk.2_Missense_Mutation_p.Q454H|MTF2_uc001dpi.3_Missense_Mutation_p.Q238H|MTF2_uc010oti.1_Missense_Mutation_p.Q409H|MTF2_uc001dpj.3_Missense_Mutation_p.Q409H|MTF2_uc001dpl.3_Missense_Mutation_p.Q409H|MTF2_uc001dpm.3_Missense_Mutation_p.Q180H NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 511 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) TCCAGACTCAGAACTCAGAAA 0.418 16 72 --- --- --- --- PASS DPH5 51611 broad.mit.edu 37 1 101460686 101460686 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:101460686C>A uc001dts.2 - 6 657 c.510G>T c.(508-510)CAG>CAT p.Q170H DPH5_uc001dtr.2_Missense_Mutation_p.Q170H|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Missense_Mutation_p.Q170H|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.Q170H|DPH5_uc001dty.2_Missense_Mutation_p.Q49H|DPH5_uc001dtz.2_RNA NM_015958 NP_057042 Q9H2P9 DPH5_HUMAN diphthine synthase isoform a 170 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity 0 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) TTTCCAAAGACTGCTCCTTTA 0.294 7 16 --- --- --- --- PASS PRMT6 55170 broad.mit.edu 37 1 107600083 107600083 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:107600083G>A uc010ous.1 + 1 817 c.746G>A c.(745-747)CGG>CAG p.R249Q NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 249 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GTGCTGGCCCGGCCGCAGCGC 0.687 6 13 --- --- --- --- PASS SLC25A24 29957 broad.mit.edu 37 1 108700228 108700228 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:108700228C>A uc001dvn.3 - 5 739 c.525G>T c.(523-525)GGG>GGT p.G175G SLC25A24_uc001dvm.2_Silent_p.G156G NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 175 Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TTAAGCTATCCCCTATGTCAA 0.403 7 109 --- --- --- --- PASS CTTNBP2NL 55917 broad.mit.edu 37 1 112999276 112999276 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:112999276G>A uc001ebx.2 + 6 1390 c.1162G>A c.(1162-1164)GAG>AAG p.E388K CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 388 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAACCAGTGGAGAATGGTGG 0.552 22 72 --- --- --- --- PASS PTPN22 26191 broad.mit.edu 37 1 114381218 114381218 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:114381218C>A uc001eds.2 - 12 1070 c.940G>T c.(940-942)GAG>TAG p.E314* PTPN22_uc009wgq.2_Nonsense_Mutation_p.E259*|PTPN22_uc010owo.1_Nonsense_Mutation_p.E70*|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Nonsense_Mutation_p.E314*|PTPN22_uc009wgs.2_Nonsense_Mutation_p.E187*|PTPN22_uc001edu.2_Nonsense_Mutation_p.E314* NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 314 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGATTTTTCTCAGGAATACAA 0.328 5 52 --- --- --- --- PASS TRIM33 51592 broad.mit.edu 37 1 114949569 114949569 + Silent SNP A C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:114949569A>C uc001eew.2 - 14 2496 c.2412T>G c.(2410-2412)GCT>GCG p.A804A TRIM33_uc010owr.1_Silent_p.A418A|TRIM33_uc010ows.1_Silent_p.A436A|TRIM33_uc001eex.2_Silent_p.A804A|TRIM33_uc001eey.1_5'UTR NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 804 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTACCATGCAAGCACTCCTCC 0.433 T RET papillary thyroid 17 63 --- --- --- --- PASS NBPF7 343505 broad.mit.edu 37 1 120386969 120386969 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:120386969C>T uc010oxk.1 - 1 811 c.190G>A c.(190-192)GTA>ATA p.V64I NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 64 cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) ATTTGAGTTACAAGAAATTTC 0.423 OREG0013730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 86 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144886153 144886153 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:144886153C>T uc001elw.3 - 23 3372 c.3081G>A c.(3079-3081)CTG>CTA p.L1027L 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_Silent_p.L1093L|PDE4DIP_uc001elv.3_Silent_p.L34L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1027 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) TTAGCTCCTTCAGTTCCTCCT 0.522 T PDGFRB MPD 21 117 --- --- --- --- PASS ACP6 51205 broad.mit.edu 37 1 147120111 147120111 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:147120111G>T uc001epr.2 - 9 1544 c.1080C>A c.(1078-1080)ACC>ACA p.T360T NM_016361 NP_057445 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic precursor 360 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding ovary(4) 4 all_hematologic(923;0.0276) AAAGTTCCATGGTCAGGTCAA 0.512 5 54 --- --- --- --- PASS SV2A 9900 broad.mit.edu 37 1 149879602 149879602 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:149879602G>T uc001etg.2 - 9 2027 c.1536C>A c.(1534-1536)TTC>TTA p.F512L SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.F512L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 512 Extracellular (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) ACTTGTCATTGAAGTACTGCC 0.488 26 59 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152057617 152057617 + Silent SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:152057617A>T uc001ezo.1 - 3 2606 c.2541T>A c.(2539-2541)TCT>TCA p.S847S NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 847 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGAAAAAGACAGAACAATCTG 0.502 30 51 --- --- --- --- PASS LCE2D 353141 broad.mit.edu 37 1 152636867 152636867 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:152636867C>T uc001fag.2 + 2 341 c.286C>T c.(286-288)CCT>TCT p.P96S NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 96 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGAGTGAACCTTCTGGGGC 0.642 13 35 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 153984787 153984787 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:153984787G>T uc001fdw.2 - 34 4785 c.4713C>A c.(4711-4713)ACC>ACA p.T1571T NUP210L_uc009woq.2_Silent_p.T480T|NUP210L_uc010peh.1_Silent_p.T1571T NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1571 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGAGGGTATTGGTGAGATAAG 0.403 6 104 --- --- --- --- PASS TDRD10 126668 broad.mit.edu 37 1 154514508 154514508 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:154514508G>T uc009wow.2 + 7 1216 c.378G>T c.(376-378)GAG>GAT p.E126D TDRD10_uc001ffd.2_Missense_Mutation_p.E126D|TDRD10_uc001ffe.2_Missense_Mutation_p.E47D NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 126 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AGGTGTTGGAGAAGGCTTCTG 0.488 6 23 --- --- --- --- PASS TRIM46 80128 broad.mit.edu 37 1 155148375 155148375 + Missense_Mutation SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:155148375T>C uc001fhs.1 + 3 420 c.337T>C c.(337-339)TAC>CAC p.Y113H RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.Y100H|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.Y113H|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_5'UTR|TRIM46_uc001fhu.1_Missense_Mutation_p.Y90H|TRIM46_uc009wpg.1_Missense_Mutation_p.Y100H|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhv.3_Missense_Mutation_p.Y100H|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 113 intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTTTGGGACATACCCTGGGAG 0.552 40 94 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159275910 159275910 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:159275910G>T uc001ftq.2 + 5 563 c.464G>T c.(463-465)TGG>TTG p.W155L NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 155 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CTCAAGTACTGGTATGAGAAC 0.493 5 83 --- --- --- --- PASS VSIG8 391123 broad.mit.edu 37 1 159827692 159827692 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:159827692C>T uc001fuh.2 - 4 631 c.495G>A c.(493-495)CTG>CTA p.L165L C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank NM_001013661 NP_001013683 Q5VU13 VSIG8_HUMAN V-set and immunoglobulin domain containing 8 165 Extracellular (Potential).|Ig-like V-type 2. integral to membrane central_nervous_system(1) 1 all_hematologic(112;0.0597) CATAGCACTTCAGCACCACAT 0.592 4 16 --- --- --- --- PASS ATP1A2 477 broad.mit.edu 37 1 160109474 160109474 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:160109474C>A uc001fvc.2 + 21 3017 c.2885C>A c.(2884-2886)GCT>GAT p.A962D ATP1A2_uc001fvd.2_Missense_Mutation_p.A681D NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 962 Helical; (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ACGGCGTTGGCTGCCTTTCTC 0.577 11 28 --- --- --- --- PASS PVRL4 81607 broad.mit.edu 37 1 161042499 161042499 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:161042499C>A uc001fxo.2 - 9 1784 c.1485G>T c.(1483-1485)AAG>AAT p.K495N ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxl.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.K149N|PVRL4_uc010pjz.1_Missense_Mutation_p.K204N NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 495 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCCGTGGGCTTGGCCCGTA 0.597 24 36 --- --- --- --- PASS C1orf111 284680 broad.mit.edu 37 1 162344105 162344105 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:162344105G>T uc001gbx.2 - 3 583 c.519C>A c.(517-519)TCC>TCA p.S173S NM_182581 NP_872387 Q5T0L3 CA111_HUMAN hypothetical protein LOC284680 173 ovary(1) 1 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) GGTGCCACCTGGAAGCCATTA 0.582 7 185 --- --- --- --- PASS UAP1 6675 broad.mit.edu 37 1 162551080 162551080 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:162551080G>T uc001gce.3 + 5 994 c.665G>T c.(664-666)GGG>GTG p.G222V NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 222 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTTCCAGATGGGAATGGTGGT 0.388 7 142 --- --- --- --- PASS ILDR2 387597 broad.mit.edu 37 1 166905975 166905975 + Splice_Site SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:166905975C>A uc001gdx.1 - 5 613 c.557_splice c.e5-1 p.E186_splice NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor integral to membrane ovary(1) 1 AACACCCACTCTGGAAGGATG 0.602 5 24 --- --- --- --- PASS MAEL 84944 broad.mit.edu 37 1 166963298 166963298 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:166963298A>T uc001gdy.1 + 5 586 c.515A>T c.(514-516)CAG>CTG p.Q172L MAEL_uc001gdz.1_Missense_Mutation_p.Q141L|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 172 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 TTTCATTGTCAGGCTGCAAGT 0.323 5 11 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 172050971 172050971 + Splice_Site SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:172050971G>T uc001gie.2 + 12 1599 c.1423_splice c.e12-1 p.V475_splice DNM3_uc001gid.3_Splice_Site_p.V475_splice|DNM3_uc009wwb.2_Splice_Site_p.V475_splice|DNM3_uc001gif.2_Splice_Site_p.V475_splice NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 TTGACTTATAGGTATTGCTAT 0.338 6 72 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175092614 175092614 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:175092614C>A uc001gkl.1 + 12 2842 c.2729C>A c.(2728-2730)GCC>GAC p.A910D NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 910 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCGGTTCAGGCCACCATTGAC 0.537 19 40 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175334299 175334299 + Missense_Mutation SNP C G G rs139055042 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:175334299C>G uc001gkp.1 - 10 2515 c.2434G>C c.(2434-2436)GAT>CAT p.D812H TNR_uc009wwu.1_Missense_Mutation_p.D812H NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 812 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCTCCTCATCCCTGGGGCTG 0.517 19 34 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181767670 181767670 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:181767670G>C uc001gow.2 + 47 6678 c.6513G>C c.(6511-6513)CCG>CCC p.P2171P CACNA1E_uc009wxs.2_Silent_p.P2059P|CACNA1E_uc009wxt.2_Silent_p.P1440P NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2214 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CCAACTCTCCGCACCCCCAGC 0.622 3 24 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196967353 196967353 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:196967353C>A uc001gts.3 + 7 1194 c.1066C>A c.(1066-1068)CGT>AGT p.R356S NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 356 Sushi 6. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TTCTAGAATACGTTACAGATG 0.348 11 19 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202700083 202700083 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:202700083G>T uc001gyf.2 - 25 4246 c.4130C>A c.(4129-4131)GCT>GAT p.A1377D KDM5B_uc009xag.2_Missense_Mutation_p.A1413D|KDM5B_uc001gyg.1_Missense_Mutation_p.A1219D NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1377 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 AGTCTGCTGAGCAGGGCTTGG 0.532 14 22 --- --- --- --- PASS ATP2B4 493 broad.mit.edu 37 1 203652420 203652420 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:203652420G>T uc001gzw.2 + 2 971 c.87G>T c.(85-87)CTG>CTT p.L29L ATP2B4_uc001gzv.2_Silent_p.L29L|ATP2B4_uc009xaq.2_Silent_p.L29L NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 29 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TAATGGAACTGAGGAAGCTCA 0.522 6 152 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210334198 210334198 + Silent SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:210334198A>G uc009xcv.2 + 8 1551 c.1479A>G c.(1477-1479)CTA>CTG p.L493L SYT14_uc001hhs.3_Silent_p.L557L|SYT14_uc001hht.3_Silent_p.L512L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.L538L|SYT14_uc010pso.1_Silent_p.L455L|SYT14_uc010psp.1_Silent_p.L31L NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 493 Cytoplasmic (Potential).|C2 2. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) AAGTGGCCCTATTTCAGCTTT 0.418 23 71 --- --- --- --- PASS GPATCH2 55105 broad.mit.edu 37 1 217793409 217793409 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:217793409C>A uc001hlf.1 - 2 585 c.489G>T c.(487-489)AAG>AAT p.K163N GPATCH2_uc001hlg.3_Missense_Mutation_p.K163N NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 163 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TGCGTTTTACCTTTCTCCTCC 0.453 7 101 --- --- --- --- PASS IARS2 55699 broad.mit.edu 37 1 220276788 220276788 + Splice_Site SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:220276788G>T uc001hmc.2 + 8 1055 c.951_splice c.e8-1 p.K317_splice NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TTTTATGTTAGGTATGCTGTT 0.313 5 60 --- --- --- --- PASS C1orf65 164127 broad.mit.edu 37 1 223568305 223568305 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:223568305G>T uc001hoa.2 + 1 1591 c.1488G>T c.(1486-1488)GAG>GAT p.E496D NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 496 Potential. central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GGGAGTCAGAGGAACAGAGGA 0.607 18 28 --- --- --- --- PASS PARP1 142 broad.mit.edu 37 1 226556023 226556023 + Splice_Site SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:226556023C>A uc001hqd.3 - 16 2326 c.2155_splice c.e16-1 p.A719_splice NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GAGACACCGCCTGGAGAGGAG 0.587 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 21 30 --- --- --- --- PASS PSEN2 5664 broad.mit.edu 37 1 227079536 227079536 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:227079536G>A uc009xeo.1 + 11 1490 c.1063G>A c.(1063-1065)GAG>AAG p.E355K PSEN2_uc009xep.1_Missense_Mutation_p.E354K|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 355 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) GCTGGAGGAAGAGGAGGAAAG 0.602 9 19 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228473926 228473926 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:228473926A>G uc009xez.1 + 34 9196 c.9152A>G c.(9151-9153)AAT>AGT p.N3051S OBSCN_uc001hsn.2_Missense_Mutation_p.N3051S|OBSCN_uc001hsq.1_Missense_Mutation_p.N307S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3051 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AACGAGCTCAATGAGATCGAT 0.652 5 7 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232581528 232581528 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:232581528A>G uc001hvg.2 - 9 3258 c.3100T>C c.(3100-3102)TGT>CGT p.C1034R SIPA1L2_uc001hvf.2_Missense_Mutation_p.C108R NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1034 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AGCTCTGAACACCCTCTGTTG 0.552 36 66 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240497432 240497432 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:240497432C>A uc010pyd.1 + 13 4893 c.4668C>A c.(4666-4668)CTC>CTA p.L1556L FMN2_uc010pye.1_Silent_p.L1560L|FMN2_uc010pyf.1_Silent_p.L202L|FMN2_uc010pyg.1_Silent_p.L152L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1556 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AACAGTGCCTCTTTCCACTGC 0.358 75 73 --- --- --- --- PASS ZNF496 84838 broad.mit.edu 37 1 247492858 247492858 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:247492858C>A uc001ico.2 - 3 488 c.23G>T c.(22-24)CGA>CTA p.R8L ZNF496_uc009xgv.2_Missense_Mutation_p.R8L|ZNF496_uc001icp.2_Missense_Mutation_p.R8L|ZNF496_uc010pyv.1_Missense_Mutation_p.R8L NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 8 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) AGCCAAGACTCGGGGGCACAG 0.582 16 60 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247588563 247588563 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:247588563G>A uc001icr.2 + 5 1956 c.1818G>A c.(1816-1818)CTG>CTA p.L606L NLRP3_uc001ics.2_Silent_p.L606L|NLRP3_uc001icu.2_Silent_p.L606L|NLRP3_uc001icw.2_Silent_p.L606L|NLRP3_uc001icv.2_Silent_p.L606L|NLRP3_uc010pyw.1_Silent_p.L604L|NLRP3_uc001ict.1_Silent_p.L604L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 606 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AAATCAGGCTGGAGCTGCTGA 0.458 17 54 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614643 247614643 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:247614643G>C uc010pyx.1 - 1 642 c.642C>G c.(640-642)CCC>CCG p.P214P NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGAGAGCCAGGGGCACCAACA 0.577 13 25 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247655290 247655290 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:247655290C>A uc001icz.1 + 1 861 c.861C>A c.(859-861)CCC>CCA p.P287P NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGCATCAACCCCCTCATCTAC 0.532 34 63 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248059311 248059311 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:248059311C>A uc001idp.1 + 3 692 c.423C>A c.(421-423)TGC>TGA p.C141* OR2W3_uc010pzb.1_Nonsense_Mutation_p.C141* NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCAGGCTCTGCCGGGGCTTGG 0.627 17 19 --- --- --- --- PASS ASAP2 8853 broad.mit.edu 37 2 9475236 9475236 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:9475236G>T uc002qzh.2 + 9 1117 c.777G>T c.(775-777)CAG>CAT p.Q259H ASAP2_uc002qzi.2_Missense_Mutation_p.Q259H NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 259 Potential. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 AACAGGCCCAGGATGAAGAAA 0.413 6 61 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15770898 15770898 + Splice_Site SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:15770898A>T uc002rce.2 + 26 2381 c.2093_splice c.e26-2 p.G698_splice NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TGTGTGATGCAGGTGGAAGCT 0.408 84 88 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21232877 21232877 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:21232877T>A uc002red.2 - 26 6991 c.6863A>T c.(6862-6864)CAC>CTC p.H2288L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2288 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGCCTCAATGTGTTGTTTTAA 0.348 24 126 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24930637 24930637 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:24930637G>C uc002rfk.2 + 11 2556 c.2298G>C c.(2296-2298)CTG>CTC p.L766L NCOA1_uc010eye.2_Silent_p.L766L|NCOA1_uc002rfi.2_Silent_p.L615L|NCOA1_uc002rfj.2_Silent_p.L766L|NCOA1_uc002rfl.2_Silent_p.L766L NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 766 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCAAACCTGAGCCTGGATG 0.383 T PAX3 alveolar rhadomyosarcoma 20 32 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25468908 25468908 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:25468908C>G uc002rgc.2 - 12 1712 c.1455G>C c.(1453-1455)CAG>CAC p.Q485H DNMT3A_uc002rgd.2_Missense_Mutation_p.Q485H|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Q296H NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 485 ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCGGCACTTCTGCCGCACCT 0.612 Mis|F|N|S AML 9 43 --- --- --- --- PASS MEMO1 51072 broad.mit.edu 37 2 32145975 32145975 + Nonsense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:32145975T>A uc002rnx.2 - 4 599 c.217A>T c.(217-219)AGA>TGA p.R73* MEMO1_uc010ymu.1_Nonsense_Mutation_p.R50*|MEMO1_uc010ezq.2_Nonsense_Mutation_p.R73*|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA|MEMO1_uc010ymv.1_RNA NM_015955 NP_057039 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 isoform 1 73 regulation of microtubule-based process cytosol|nucleus ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) ATGAAAATTCTCCGGCTAGGA 0.378 22 35 --- --- --- --- PASS MAP4K3 8491 broad.mit.edu 37 2 39509664 39509664 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:39509664G>T uc002rro.2 - 22 1710 c.1619C>A c.(1618-1620)CCT>CAT p.P540H MAP4K3_uc002rrp.2_Missense_Mutation_p.P519H|MAP4K3_uc010yns.1_Missense_Mutation_p.P93H NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 540 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) ATGCACTTTAGGTGTTGGAGG 0.323 5 43 --- --- --- --- PASS MSH6 2956 broad.mit.edu 37 2 48027425 48027425 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:48027425C>A uc002rwd.3 + 4 2455 c.2303C>A c.(2302-2304)CCT>CAT p.P768H MSH6_uc002rwc.2_Missense_Mutation_p.P768H|MSH6_uc010fbj.2_Missense_Mutation_p.P466H|MSH6_uc010yoi.1_Missense_Mutation_p.P638H|MSH6_uc010yoj.1_Missense_Mutation_p.P466H NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 768 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGCCATACTCCTTTTGGTAAG 0.423 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 10 248 --- --- --- --- PASS FBXO11 80204 broad.mit.edu 37 2 48040932 48040932 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:48040932G>A uc010fbl.2 - 17 1943 c.1829C>T c.(1828-1830)TCT>TTT p.S610F FBXO11_uc002rwe.2_Missense_Mutation_p.S610F|FBXO11_uc002rwf.2_Missense_Mutation_p.S610F|FBXO11_uc010fbk.2_Missense_Mutation_p.S118F NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 694 PbH1 14. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAACATACCAGAATTATAAAC 0.274 18 33 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49191003 49191003 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:49191003C>T uc002rww.2 - 10 1031 c.957G>A c.(955-957)GAG>GAA p.E319E FSHR_uc002rwx.2_Silent_p.E257E|FSHR_uc010fbn.2_Silent_p.E293E NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 319 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGTAGCTGGACTCATTGTCTT 0.443 Gonadal_Dysgenesis_46_XX 113 117 --- --- --- --- PASS CHAC2 494143 broad.mit.edu 37 2 54001477 54001477 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:54001477C>A uc002rxk.1 + 3 465 c.370C>A c.(370-372)CTG>ATG p.L124M ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron NM_001008708 NP_001008708 Q8WUX2 CHAC2_HUMAN ChaC, cation transport regulator-like 2 124 0 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCCTGCACCTCTGGAAGACAT 0.358 6 110 --- --- --- --- PASS C2orf63 130162 broad.mit.edu 37 2 55449476 55449476 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:55449476C>A uc002ryi.2 - 3 418 c.72G>T c.(70-72)TTG>TTT p.L24F C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Intron NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 24 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) GCACACTTTCCAAAAATTCCT 0.363 6 99 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61475683 61475683 + Silent SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:61475683T>A uc002sbe.2 - 49 6379 c.6357A>T c.(6355-6357)ACA>ACT p.T2119T USP34_uc002sbf.2_Silent_p.T269T NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2119 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GAAAATCTTCTGTATAGGGCG 0.358 19 33 --- --- --- --- PASS PPP3R1 5534 broad.mit.edu 37 2 68415796 68415796 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:68415796C>A uc002sei.1 - 3 462 c.70G>T c.(70-72)GGA>TGA p.G24* NM_000945 NP_000936 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, 24 EF-hand 1. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding 0 Pimecrolimus(DB00337) AATCTCTTTCCTAGCCTTTTA 0.368 5 53 --- --- --- --- PASS GKN2 200504 broad.mit.edu 37 2 69173541 69173541 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:69173541G>T uc002sfa.2 - 5 476 c.367C>A c.(367-369)CTG>ATG p.L123M GKN2_uc002sfb.3_Missense_Mutation_p.L123M NM_182536 NP_872342 Q86XP6 GKN2_HUMAN trefoil factor interactions(z) 1 precursor 123 BRICHOS. extracellular region 0 AGAGACTCCAGAGGGTTGTAC 0.413 7 179 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71709007 71709007 + Splice_Site SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:71709007A>T uc002sie.2 + 3 521 c.145_splice c.e3-2 p.G49_splice DYSF_uc010feg.2_Splice_Site_p.G49_splice|DYSF_uc010feh.2_Splice_Site_p.G49_splice|DYSF_uc002sig.3_Splice_Site_p.G49_splice|DYSF_uc010yqx.1_Splice_Site|DYSF_uc010fee.2_Splice_Site_p.G49_splice|DYSF_uc010fef.2_Splice_Site_p.G49_splice|DYSF_uc010fei.2_Splice_Site_p.G49_splice|DYSF_uc010fek.2_Splice_Site_p.G50_splice|DYSF_uc010fej.2_Splice_Site_p.G50_splice|DYSF_uc010fel.2_Splice_Site_p.G50_splice|DYSF_uc010feo.2_Splice_Site_p.G50_splice|DYSF_uc010fem.2_Splice_Site_p.G50_splice|DYSF_uc010fen.2_Splice_Site_p.G50_splice|DYSF_uc002sif.2_Splice_Site_p.G50_splice NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TTTTTCTTCCAGGGATTTGAA 0.323 7 18 --- --- --- --- PASS TET3 200424 broad.mit.edu 37 2 74275351 74275351 + Silent SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:74275351A>T uc002skb.3 + 1 1902 c.1902A>T c.(1900-1902)TCA>TCT p.S634S TET3_uc010fez.1_Silent_p.S634S NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 634 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CTGTGCTCTCAACCACCTGCT 0.577 4 22 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90249397 90249397 + Splice_Site SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:90249397C>G uc010fhm.2 + 28 c.3939_splice c.e28+1 Parts of antibodies, mostly variable regions. AGTACCCCTCCCACAGTGTTA 0.517 34 106 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95542369 95542369 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:95542369A>G uc002stw.1 + 6 1256 c.1163A>G c.(1162-1164)CAG>CGG p.Q388R uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 388 Potential. cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 GAAGCGGAGCAGTCCCTGCGC 0.597 9 16 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109365585 109365585 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:109365585G>T uc002tem.3 + 9 1399 c.1273G>T c.(1273-1275)GGT>TGT p.G425C NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 425 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATACGATGTTGGTAAGTTATA 0.269 7 166 --- --- --- --- PASS CKAP2L 150468 broad.mit.edu 37 2 113514469 113514469 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:113514469C>A uc002tie.2 - 4 558 c.479G>T c.(478-480)GGT>GTT p.G160V CKAP2L_uc002tif.2_Splice_Site_p.M1_splice|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 160 centrosome 0 TATACATTTACCATTTCCTTG 0.343 10 40 --- --- --- --- PASS DDX18 8886 broad.mit.edu 37 2 118579815 118579815 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:118579815G>C uc002tlh.1 + 7 1143 c.1044G>C c.(1042-1044)AAG>AAC p.K348N NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 348 Helicase ATP-binding. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 AGGAATTAAAGCAAATTATTA 0.358 10 37 --- --- --- --- PASS ZRANB3 84083 broad.mit.edu 37 2 135965099 135965099 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:135965099C>A uc002tum.2 - 19 3031 c.2914G>T c.(2914-2916)GCA>TCA p.A972S ZRANB3_uc002tuk.2_Missense_Mutation_p.A515S|ZRANB3_uc002tul.2_Missense_Mutation_p.A970S NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 972 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) AGTTCTTGTGCGTTCACATTA 0.413 5 138 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141359117 141359117 + Silent SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:141359117A>T uc002tvj.1 - 42 7863 c.6891T>A c.(6889-6891)ACT>ACA p.T2297T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2297 Extracellular (Potential).|LDL-receptor class B 24. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCTGGTCCACAGTGTGTCTGG 0.512 TSP Lung(27;0.18) 6 17 --- --- --- --- PASS KYNU 8942 broad.mit.edu 37 2 143798134 143798134 + Silent SNP G T T rs145299669 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:143798134G>T uc002tvl.2 + 13 1309 c.1179G>T c.(1177-1179)CCG>CCT p.P393P KYNU_uc010fnm.2_Silent_p.P393P NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 393 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TAATTACTCCGTCTCATGTAG 0.393 9 27 --- --- --- --- PASS ARHGAP15 55843 broad.mit.edu 37 2 144244987 144244987 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:144244987G>T uc002tvm.3 + 9 900 c.749G>T c.(748-750)CGA>CTA p.R250L ARHGAP15_uc002tvn.2_Missense_Mutation_p.R16L NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 250 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) GACAAAAATCGAGTTAAAAGC 0.338 4 63 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152512796 152512796 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:152512796G>C uc010fnx.2 - 49 6557 c.6366C>G c.(6364-6366)GTC>GTG p.V2122V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2122 Nebulin 56. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTGCAGCCGTGACACTGAGCA 0.473 41 86 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166802149 166802149 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:166802149C>A uc002udk.2 - 4 447 c.314G>T c.(313-315)GGA>GTA p.G105V TTC21B_uc002udl.2_Missense_Mutation_p.G105V|uc002udm.1_Intron NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 105 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 CTCTCCAGCTCCTTTACGTTG 0.368 13 26 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170127413 170127413 + Splice_Site SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:170127413C>A uc002ues.2 - 16 2533 c.2320_splice c.e16+1 p.G774_splice LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCTTTCTCACCTGTGCCATC 0.279 4 24 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178592803 178592803 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:178592803C>A uc002ulq.2 - 11 2204 c.1886G>T c.(1885-1887)CGG>CTG p.R629L PDE11A_uc002ulp.2_Missense_Mutation_p.R185L|PDE11A_uc002ulr.2_Missense_Mutation_p.R379L|PDE11A_uc002uls.1_Missense_Mutation_p.R271L|PDE11A_uc002ult.1_Missense_Mutation_p.R379L|PDE11A_uc002ulu.1_Missense_Mutation_p.R271L NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 629 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CATGAACATCCGGAGAGCAGC 0.418 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 69 38 --- --- --- --- PASS RBM45 129831 broad.mit.edu 37 2 178988945 178988945 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:178988945C>A uc002ulv.2 + 8 1252 c.1160C>A c.(1159-1161)CCT>CAT p.P387H NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 389 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) GCTGAAACTCCTGTGAAAGAA 0.343 6 161 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179399281 179399281 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179399281G>T uc010zfg.1 - 307 94581 c.94357C>A c.(94357-94359)CAA>AAA p.Q31453K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q25148K|TTN_uc010zfi.1_Missense_Mutation_p.Q25081K|TTN_uc010zfj.1_Missense_Mutation_p.Q24956K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32380 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) ATGATCTGTTGGTTAGTTTCA 0.418 7 172 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179468828 179468828 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179468828A>G uc010zfg.1 - 231 47106 c.46882T>C c.(46882-46884)TCT>CCT p.S15628P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9323P|TTN_uc010zfi.1_Missense_Mutation_p.S9256P|TTN_uc010zfj.1_Missense_Mutation_p.S9131P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16555 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) GTAATTGGAGAGCCACCATTG 0.493 15 180 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179469536 179469536 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179469536C>A uc010zfg.1 - 230 46800 c.46576G>T c.(46576-46578)GGC>TGC p.G15526C uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9221C|TTN_uc010zfi.1_Missense_Mutation_p.G9154C|TTN_uc010zfj.1_Missense_Mutation_p.G9029C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16453 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) ATTTCACTGCCACCATTATCA 0.443 7 147 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179471753 179471753 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179471753G>T uc010zfg.1 - 227 46096 c.45872C>A c.(45871-45873)CCA>CAA p.P15291Q uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P8986Q|TTN_uc010zfi.1_Missense_Mutation_p.P8919Q|TTN_uc010zfj.1_Missense_Mutation_p.P8794Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16218 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) TTTACCTAGTGGATCAACTGC 0.393 7 179 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179472360 179472360 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179472360C>A uc010zfg.1 - 226 45575 c.45351G>T c.(45349-45351)ATG>ATT p.M15117I uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M8812I|TTN_uc010zfi.1_Missense_Mutation_p.M8745I|TTN_uc010zfj.1_Missense_Mutation_p.M8620I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16044 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) TCTTCCCAGCCATTATTTGTA 0.448 6 142 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179577134 179577134 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179577134G>T uc010zfg.1 - 92 24007 c.23783C>A c.(23782-23784)CCA>CAA p.P7928Q TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4589Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8855 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) TGTGCTACTTGGAATTTCCAG 0.403 9 244 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179617883 179617883 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179617883C>T uc010zfg.1 - 45 10552 c.10328G>A c.(10327-10329)AGG>AAG p.R3443K TTN_uc010zfh.1_Missense_Mutation_p.R3589K|TTN_uc010zfi.1_Missense_Mutation_p.R3522K|TTN_uc010zfj.1_Missense_Mutation_p.R3397K|TTN_uc002umz.1_Missense_Mutation_p.R104K|TTN_uc002unb.2_Missense_Mutation_p.R3443K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TTGTTCAATCCTCTCATGCAA 0.299 8 66 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179654793 179654793 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179654793G>A uc010zfg.1 - 12 2074 c.1850C>T c.(1849-1851)ACA>ATA p.T617I TTN_uc010zfh.1_Missense_Mutation_p.T571I|TTN_uc010zfi.1_Missense_Mutation_p.T571I|TTN_uc010zfj.1_Missense_Mutation_p.T571I|TTN_uc002unb.2_Missense_Mutation_p.T617I|TTN_uc010frg.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 617 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) GACTTTGGGTGTGGCAACTAT 0.333 68 29 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179742795 179742795 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:179742795C>T uc002unf.1 - 2 127 c.70G>A c.(70-72)GCC>ACC p.A24T CCDC141_uc002ung.2_Missense_Mutation_p.A599T NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 24 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAATGCTTGGCTTTAGCATCA 0.363 53 41 --- --- --- --- PASS C2orf66 401027 broad.mit.edu 37 2 197672176 197672176 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:197672176G>C uc002utv.2 - 2 1234 c.345C>G c.(343-345)CTC>CTG p.L115L NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN hypothetical protein LOC401027 precursor 115 extracellular region 0 TTCAGCCTTTGAGATAATTGT 0.388 16 84 --- --- --- --- PASS SGOL2 151246 broad.mit.edu 37 2 201436176 201436176 + Silent SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:201436176T>C uc002uvw.2 + 7 1220 c.1107T>C c.(1105-1107)GCT>GCC p.A369A SGOL2_uc010zhd.1_Silent_p.A369A|SGOL2_uc010zhe.1_Silent_p.A369A NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 369 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 ATTTAACTGCTAGTGAAGTCA 0.343 10 34 --- --- --- --- PASS FAM126B 285172 broad.mit.edu 37 2 201857011 201857011 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:201857011G>T uc002uws.3 - 10 1012 c.824C>A c.(823-825)CCA>CAA p.P275Q FAM126B_uc002uwu.2_Missense_Mutation_p.P193Q|FAM126B_uc002uwv.2_Missense_Mutation_p.P275Q NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 275 intracellular ovary(1) 1 TACCAATAGTGGTTGAGAAAA 0.338 5 76 --- --- --- --- PASS ALS2CR4 65062 broad.mit.edu 37 2 202494079 202494079 + Missense_Mutation SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:202494079T>C uc002uyh.1 - 10 844 c.743A>G c.(742-744)TAT>TGT p.Y248C ALS2CR4_uc002uyg.1_Missense_Mutation_p.Y240C|ALS2CR4_uc010zho.1_Missense_Mutation_p.Y43C|ALS2CR4_uc010zhp.1_RNA NM_001044385 NP_001037850 Q96Q45 TM237_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 272 integral to membrane protein binding 0 TGCTAGAACATATATCACAAC 0.408 24 21 --- --- --- --- PASS C2orf80 389073 broad.mit.edu 37 2 209046009 209046009 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:209046009C>A uc002vcr.2 - 5 399 c.227G>T c.(226-228)AGA>ATA p.R76I NM_001099334 NP_001092804 Q0P641 CB080_HUMAN hypothetical protein LOC389073 76 skin(1) 1 ATATATGGGTCTGCCATGGAG 0.353 18 29 --- --- --- --- PASS PTH2R 5746 broad.mit.edu 37 2 209358352 209358352 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:209358352G>T uc002vdb.2 + 13 1834 c.1621G>T c.(1621-1623)GGA>TGA p.G541* PTH2R_uc010zjb.1_Nonsense_Mutation_p.G552*|PTH2R_uc010fuo.1_Intron NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 541 Cytoplasmic (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) AGACACTGAAGGATGCCAAGG 0.498 17 70 --- --- --- --- PASS C2orf67 151050 broad.mit.edu 37 2 211019273 211019273 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:211019273C>A uc002vds.2 - 2 242 c.34G>T c.(34-36)GGT>TGT p.G12C C2orf67_uc002vdt.2_Missense_Mutation_p.G12C|C2orf67_uc002vdw.2_Missense_Mutation_p.G12C|C2orf67_uc002vdy.1_Missense_Mutation_p.G12C|C2orf67_uc002vdv.2_Missense_Mutation_p.G12C|C2orf67_uc002vdx.1_Missense_Mutation_p.G12C NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 12 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) AAGCTGATACCCTTTGCTGTT 0.413 8 176 --- --- --- --- PASS ACADL 33 broad.mit.edu 37 2 211081131 211081131 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:211081131G>T uc002vdz.3 - 4 704 c.476C>A c.(475-477)CCC>CAC p.P159H NM_001608 NP_001599 P28330 ACADL_HUMAN long-chain acyl-CoA dehydrogenase precursor 159 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity 0 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) AGTCATCTGGGGAATAAAGTG 0.398 7 117 --- --- --- --- PASS WDR69 164781 broad.mit.edu 37 2 228770955 228770955 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:228770955G>T uc002vpn.1 + 9 838 c.759G>T c.(757-759)AAG>AAT p.K253N WDR69_uc010zlw.1_Missense_Mutation_p.K238N|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 253 WD 4. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) GTTGTAGGAAGGTAAATATCT 0.358 5 63 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228883619 228883619 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:228883619C>A uc002vpq.2 - 7 1998 c.1951G>T c.(1951-1953)GCT>TCT p.A651S SPHKAP_uc002vpp.2_Missense_Mutation_p.A651S|SPHKAP_uc010zlx.1_Missense_Mutation_p.A651S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 651 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GACTTTGAAGCAGTTTCCATG 0.463 18 58 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 234094557 234094557 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:234094557G>A uc010zmo.1 + 20 2497 c.2344G>A c.(2344-2346)GAG>AAG p.E782K INPP5D_uc010zmp.1_Missense_Mutation_p.E781K NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 782 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GAAGTTTGGTGAGACTCTTCC 0.488 12 12 --- --- --- --- PASS SPP2 6694 broad.mit.edu 37 2 234969103 234969103 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:234969103G>T uc002vvk.1 + 4 509 c.424G>T c.(424-426)GAG>TAG p.E142* SPP2_uc010fyl.1_Nonsense_Mutation_p.E62* NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 142 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) CTCCACGTCTGAGTCTTACAG 0.562 13 20 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238285988 238285988 + Splice_Site SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:238285988C>T uc002vwl.2 - 7 2783 c.2498_splice c.e7-1 p.E833_splice COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Splice_Site_p.E226_splice|COL6A3_uc002vwq.2_Splice_Site_p.E627_splice|COL6A3_uc002vwr.2_Splice_Site_p.E426_splice|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGCTTGCTCTCTGCAATGAAG 0.478 30 25 --- --- --- --- PASS PRR21 643905 broad.mit.edu 37 2 240982214 240982214 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:240982214C>T uc010zod.1 - 1 186 c.186G>A c.(184-186)ACG>ACA p.T62T NM_001080835 NP_001074304 Q8WXC7 PRR21_HUMAN proline rich 21 62 Pro-rich. ovary(1)|skin(1) 2 GGTGAAGAGCCGTGGATGAAG 0.612 10 13 --- --- --- --- PASS MYEOV2 150678 broad.mit.edu 37 2 241066130 241066130 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr2:241066130G>T uc002vyu.1 - 5 609 c.609C>A c.(607-609)ACC>ACA p.T203T NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN hypothetical protein LOC150678 isoform 1 Error:Variant_position_missing_in_Q8WXC6_after_alignment 0 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TGCTTCTTGTGGTTCTGAGCA 0.468 5 62 --- --- --- --- PASS IL17RE 132014 broad.mit.edu 37 3 9956415 9956415 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:9956415C>A uc003btu.2 + 16 1518 c.1401C>A c.(1399-1401)ACC>ACA p.T467T CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Silent_p.T467T|IL17RE_uc003btx.2_Silent_p.T351T|IL17RE_uc010hcq.2_Missense_Mutation_p.P492T|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 467 Helical; (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) CCCTCCTCACCCTACTGGGTG 0.612 5 40 --- --- --- --- PASS RAF1 5894 broad.mit.edu 37 3 12633208 12633208 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:12633208G>T uc003bxf.3 - 11 1607 c.1192C>A c.(1192-1194)CGC>AGC p.R398S RAF1_uc011aut.1_Missense_Mutation_p.R183S|RAF1_uc011auu.1_Missense_Mutation_p.R316S NM_002880 NP_002871 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 398 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|SRGAP3/RAF1(4) central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1) 14 Sorafenib(DB00398) TCTACTCACCGCAGAACAGCC 0.547 T SRGAP3 pilocytic astrocytoma Noonan_syndrome 18 13 --- --- --- --- PASS SLC4A7 9497 broad.mit.edu 37 3 27439274 27439274 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:27439274G>T uc003cdv.2 - 18 2648 c.2577C>A c.(2575-2577)ATC>ATA p.I859I SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Silent_p.I740I|SLC4A7_uc011aww.1_Silent_p.I868I|SLC4A7_uc011awx.1_Silent_p.I855I|SLC4A7_uc011awy.1_Silent_p.I851I|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Silent_p.I740I|SLC4A7_uc011axb.1_Silent_p.I855I|SLC4A7_uc010hfl.2_Silent_p.I409I|SLC4A7_uc003cdw.2_Silent_p.I735I NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 859 Cytoplasmic (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 CAAAATCACTGATTGTCGATC 0.303 4 20 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38655263 38655263 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:38655263C>T uc003cio.2 - 6 868 c.674G>A c.(673-675)CGG>CAG p.R225Q SCN5A_uc003cin.2_Missense_Mutation_p.R225Q|SCN5A_uc003cil.3_Intron|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhl.1_Intron NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 225 Helical; Voltage-sensor; Name=S4 of repeat I; (Potential). R -> W (in PFHB1A).|R -> Q (in LQT3). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTTCAGGGCCCGGAGGACTCG 0.498 6 3 --- --- --- --- PASS WDR48 57599 broad.mit.edu 37 3 39136189 39136189 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:39136189G>C uc003cit.2 + 19 1999 c.1989G>C c.(1987-1989)AAG>AAC p.K663N WDR48_uc011ayt.1_Missense_Mutation_p.K654N|WDR48_uc011ayu.1_Missense_Mutation_p.K581N|WDR48_uc011ayv.1_Missense_Mutation_p.K388N|WDR48_uc003ciu.2_RNA NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN WD repeat domain 48 663 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding ovary(1)|breast(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TCATATGGAAGAGCGGTGGAG 0.418 18 33 --- --- --- --- PASS NKTR 4820 broad.mit.edu 37 3 42681131 42681131 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:42681131G>T uc003clo.2 + 13 4082 c.3935G>T c.(3934-3936)AGG>ATG p.R1312M NKTR_uc003clm.1_Missense_Mutation_p.R1059M|NKTR_uc003clp.2_Missense_Mutation_p.R1059M|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R1202M|NKTR_uc003clr.1_Missense_Mutation_p.R1059M|NKTR_uc003cls.2_Missense_Mutation_p.R1012M NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1312 Arg/Ser tandem repeat-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AGCCAGTCCAGGAGTCCAAGT 0.448 5 53 --- --- --- --- PASS KIF15 56992 broad.mit.edu 37 3 44893441 44893441 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:44893441C>A uc003cnx.3 + 33 4118 c.3969C>A c.(3967-3969)TCC>TCA p.S1323S KIF15_uc010hiq.2_Silent_p.S1226S|KIF15_uc010hir.2_Silent_p.S371S NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 1323 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AGAGAACATCCCAGGTGTGCT 0.383 6 70 --- --- --- --- PASS SCAP 22937 broad.mit.edu 37 3 47465535 47465535 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:47465535G>T uc003crh.1 - 9 1293 c.1038C>A c.(1036-1038)GGC>GGA p.G346G SCAP_uc011baz.1_Silent_p.G91G|SCAP_uc003crg.2_5'UTR NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 346 SSD.|Helical; Name=4; (Potential). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GGAAAATCTCGCTGGGGACAG 0.567 6 7 --- --- --- --- PASS NCKIPSD 51517 broad.mit.edu 37 3 48717141 48717141 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:48717141G>T uc003cun.2 - 8 1450 c.1356C>A c.(1354-1356)CAC>CAA p.H452Q NCKIPSD_uc003cum.2_Missense_Mutation_p.H445Q NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 452 Leu-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGATGCTCGGTGTTCCTGGC 0.587 20 14 --- --- --- --- PASS NISCH 11188 broad.mit.edu 37 3 52525432 52525432 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:52525432C>A uc011beg.1 + 21 3879 c.3807C>A c.(3805-3807)CTC>CTA p.L1269L NISCH_uc003ded.3_Silent_p.L1269L|NISCH_uc003dee.3_Silent_p.L758L|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.L18L NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1269 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ACTGCTTCCTCCAGCACCTCA 0.622 10 10 --- --- --- --- PASS ATXN7 6314 broad.mit.edu 37 3 63973883 63973883 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:63973883A>T uc003dlw.3 + 9 1797 c.1244A>T c.(1243-1245)CAT>CTT p.H415L ATXN7_uc003dlv.2_Missense_Mutation_p.H415L|ATXN7_uc010hnv.2_Missense_Mutation_p.H415L|ATXN7_uc011bfn.1_Missense_Mutation_p.H270L NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 415 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) AGGGACCCGCATCCCGCCCCT 0.512 23 37 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100567705 100567705 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:100567705T>A uc003dun.2 - 16 1475 c.1390A>T c.(1390-1392)ACA>TCA p.T464S ABI3BP_uc003duo.2_Missense_Mutation_p.T506S|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 464 Pro-rich. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GGGATAGATGTAGTTTGCTGG 0.368 11 55 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109033356 109033356 + Splice_Site SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:109033356C>A uc003dxo.2 - 2 280 c.33_splice c.e2+1 p.K11_splice NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 ATGAAACTTACCTTCTTGCTG 0.388 8 22 --- --- --- --- PASS GPR156 165829 broad.mit.edu 37 3 119886143 119886143 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:119886143C>A uc011bjf.1 - 9 2181 c.2181G>T c.(2179-2181)TGG>TGT p.W727C GPR156_uc011bjg.1_Missense_Mutation_p.W723C NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 727 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) GCACTGGGGGCCACAGCTGCC 0.602 4 15 --- --- --- --- PASS ZXDC 79364 broad.mit.edu 37 3 126185161 126185161 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:126185161G>A uc003eiv.2 - 5 1332 c.1278C>T c.(1276-1278)TGC>TGT p.C426C ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.C426C NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 426 C2H2-type 9. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) AGAACCTCGCGCAACATCCTG 0.502 13 13 --- --- --- --- PASS ACAD9 28976 broad.mit.edu 37 3 128627878 128627878 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:128627878C>A uc003ela.3 + 14 1623 c.1421C>A c.(1420-1422)TCC>TAC p.S474Y ACAD9_uc010hsw.1_3'UTR|ACAD9_uc011bks.1_Missense_Mutation_p.S351Y|ACAD9_uc003elb.2_Missense_Mutation_p.S351Y|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.S126Y NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 474 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 CTTCGGGACTCCCTGGGCCGA 0.582 6 22 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134873037 134873037 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:134873037G>T uc003eqt.2 + 6 1561 c.1341G>T c.(1339-1341)ATG>ATT p.M447I EPHB1_uc003equ.2_Missense_Mutation_p.M8I NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 447 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GTGCCACTATGAGGAGCATCA 0.542 6 114 --- --- --- --- PASS GPR87 53836 broad.mit.edu 37 3 151012966 151012966 + Nonsense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:151012966G>C uc003eyt.2 - 3 429 c.68C>G c.(67-69)TCA>TGA p.S23* MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 23 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCTGTTGCCTGAATTGTGACT 0.502 10 101 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906744 164906744 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:164906744G>T uc003fej.3 - 2 2319 c.1875C>A c.(1873-1875)GCC>GCA p.A625A SLITRK3_uc003fek.2_Silent_p.A625A NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 625 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CTCCAGGCTGGGCTGGGGATT 0.547 HNSCC(40;0.11) 37 19 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906901 164906901 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:164906901A>T uc003fej.3 - 2 2162 c.1718T>A c.(1717-1719)TTT>TAT p.F573Y SLITRK3_uc003fek.2_Missense_Mutation_p.F573Y NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 573 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCACTGTTTAAAGGGGACCAG 0.522 HNSCC(40;0.11) 91 28 --- --- --- --- PASS SERPINI2 5276 broad.mit.edu 37 3 167189509 167189509 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:167189509G>T uc003fer.1 - 1 172 c.114C>A c.(112-114)TCC>TCA p.S38S SERPINI2_uc003fes.1_Silent_p.S48S|SERPINI2_uc003fet.1_Silent_p.S38S NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 38 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 TATGAGATAAGGAAACCTCTT 0.393 8 201 --- --- --- --- PASS SERPINI1 5274 broad.mit.edu 37 3 167543034 167543034 + Splice_Site SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:167543034G>T uc003ffa.3 + 9 1355 c.1157_splice c.e9-1 p.G386_splice SERPINI1_uc003ffb.3_Splice_Site_p.G386_splice NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 AACCAATACAGGTACAATTCT 0.303 8 171 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168810787 168810787 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:168810787G>C uc003ffi.3 - 13 2828 c.2559C>G c.(2557-2559)AAC>AAG p.N853K MECOM_uc010hwk.1_Missense_Mutation_p.N867K|MECOM_uc003ffj.3_Missense_Mutation_p.N918K|MECOM_uc011bpi.1_Missense_Mutation_p.N845K|MECOM_uc003ffn.3_Missense_Mutation_p.N853K|MECOM_uc003ffk.2_Missense_Mutation_p.N844K|MECOM_uc003ffl.2_Missense_Mutation_p.N1004K|MECOM_uc011bpj.1_Missense_Mutation_p.N1041K|MECOM_uc011bpk.1_Missense_Mutation_p.N843K NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 853 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CATGGTTGCTGTTCCCAATGA 0.413 7 98 --- --- --- --- PASS ECT2 1894 broad.mit.edu 37 3 172520750 172520750 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:172520750C>A uc003fii.2 + 19 2131 c.1993C>A c.(1993-1995)CTC>ATC p.L665I ECT2_uc010hwv.1_Missense_Mutation_p.L696I|ECT2_uc003fih.2_Missense_Mutation_p.L664I|ECT2_uc003fij.1_Missense_Mutation_p.L665I|ECT2_uc003fik.1_Missense_Mutation_p.L665I|ECT2_uc003fil.1_Missense_Mutation_p.L696I|ECT2_uc003fim.1_5'UTR NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 665 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AACTCTCTTCCTCTTCAATGA 0.378 7 150 --- --- --- --- PASS TBL1XR1 79718 broad.mit.edu 37 3 176743300 176743300 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:176743300C>G uc003fiw.3 - 16 1791 c.1531G>C c.(1531-1533)GAC>CAC p.D511H TBL1XR1_uc003fix.3_Missense_Mutation_p.D511H|TBL1XR1_uc011bpz.1_Missense_Mutation_p.D183H NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 511 WD 8. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TTCCGAAGGTCTAATACACAA 0.348 19 64 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180320739 180320739 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:180320739G>T uc003fkk.2 + 2 354 c.222G>T c.(220-222)CTG>CTT p.L74L TTC14_uc003fkl.2_Silent_p.L74L|TTC14_uc003fkm.2_Silent_p.L74L NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 74 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAGCGGATCTGCTTTTTGCAC 0.343 91 19 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180372659 180372659 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:180372659C>T uc010hxe.2 - 7 936 c.821G>A c.(820-822)GGG>GAG p.G274E CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 274 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) TGTGTTATTCCCAATCTCACT 0.333 5 63 --- --- --- --- PASS CRYGS 1427 broad.mit.edu 37 3 186256664 186256664 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:186256664C>A uc003fqe.2 - 3 410 c.358G>T c.(358-360)GAG>TAG p.E120* CRYGS_uc003fqf.2_Nonsense_Mutation_p.E120* NM_017541 NP_060011 P22914 CRBS_HUMAN crystallin, gamma S 120 Beta/gamma crystallin 'Greek key' 3. structural constituent of eye lens 0 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) TGAAATTGCTCCATGATGGAA 0.478 8 64 --- --- --- --- PASS AHSG 197 broad.mit.edu 37 3 186338633 186338633 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:186338633C>A uc003fqk.3 + 7 1099 c.1018C>A c.(1018-1020)CGC>AGC p.R340S AHSG_uc003fql.3_Missense_Mutation_p.R341S|AHSG_uc003fqm.3_Missense_Mutation_p.R339S|AHSG_uc010hyp.2_Missense_Mutation_p.R303S NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 340 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCGGAAAACACGCACAGTGGT 0.602 9 57 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193183867 193183867 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:193183867C>A uc003ftd.2 - 11 1327 c.1219G>T c.(1219-1221)GGA>TGA p.G407* ATP13A4_uc003fte.1_Nonsense_Mutation_p.G407*|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Nonsense_Mutation_p.G113* NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 407 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GTGGCTGTTCCTACAAGGCAC 0.458 9 246 --- --- --- --- PASS OPA1 4976 broad.mit.edu 37 3 193349400 193349400 + Splice_Site SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr3:193349400G>T uc003ftm.2 + 6 859 c.625_splice c.e6-1 p.V209_splice OPA1_uc003ftg.2_Splice_Site_p.V264_splice|OPA1_uc003fth.2_Splice_Site_p.V228_splice|OPA1_uc003fti.2_Splice_Site_p.V246_splice|OPA1_uc003ftj.2_Splice_Site_p.V227_splice|OPA1_uc003ftk.2_Splice_Site_p.V210_splice|OPA1_uc003ftl.2_Splice_Site_p.V191_splice|OPA1_uc003ftn.2_Splice_Site_p.V173_splice NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TAAACATTTAGGTGTCAGACA 0.279 6 113 --- --- --- --- PASS PIGG 54872 broad.mit.edu 37 4 502758 502758 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:502758C>T uc003gak.3 + 5 1036 c.900C>T c.(898-900)CCC>CCT p.P300P PIGG_uc003gaj.3_Silent_p.P300P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.P167P|PIGG_uc003gal.3_Silent_p.P211P|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.P178P|PIGG_uc003gam.2_Silent_p.P211P|PIGG_uc003gan.2_Silent_p.P211P NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 300 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 AAAGGAAACCCGGTGAGAATT 0.393 28 11 --- --- --- --- PASS TNIP2 79155 broad.mit.edu 37 4 2746619 2746619 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:2746619G>A uc003gfg.2 - 4 798 c.711C>T c.(709-711)TAC>TAT p.Y237Y TNIP2_uc003gff.2_Silent_p.Y130Y|TNIP2_uc003gfh.2_Intron NM_024309 NP_077285 Q8NFZ5 TNIP2_HUMAN A20-binding inhibitor of NF-kappaB activation 2 237 cytosol protein binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCCCCCTCACGTATTCGTCCC 0.597 7 21 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8609097 8609097 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:8609097A>T uc003glm.2 + 7 1298 c.1172A>T c.(1171-1173)GAC>GTC p.D391V CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.D254V|CPZ_uc003glo.2_Missense_Mutation_p.D380V|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 391 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 TACCCCTTCGACTTCTCCAAG 0.602 OREG0016100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 9 --- --- --- --- PASS C1QTNF7 114905 broad.mit.edu 37 4 15437385 15437385 + Silent SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:15437385T>C uc011bxb.1 + 2 245 c.18T>C c.(16-18)TAT>TAC p.Y6Y C1QTNF7_uc003gno.2_Silent_p.Y13Y|C1QTNF7_uc003gnp.2_Silent_p.Y6Y NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 6 collagen 0 TCTTGCTCTATGTTACAAGTT 0.463 25 24 --- --- --- --- PASS KCNIP4 80333 broad.mit.edu 37 4 20852248 20852248 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:20852248C>A uc003gqe.2 - 2 239 c.155G>T c.(154-156)CGG>CTG p.R52L KCNIP4_uc003gqf.1_Missense_Mutation_p.R48L|KCNIP4_uc003gqg.1_Missense_Mutation_p.R7L|KCNIP4_uc003gqh.1_Missense_Mutation_p.R44L|KCNIP4_uc003gqi.1_Missense_Mutation_p.R7L|KCNIP4_uc010iel.2_Missense_Mutation_p.R49L|KCNIP4_uc003gqd.3_Missense_Mutation_p.R32L NM_147182 NP_671711 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 3 69 EF-hand 1; degenerate. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) GGCTTCAGGCCGATGCCTGAC 0.473 16 19 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22750521 22750521 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:22750521C>G uc003gqp.3 + 4 1236 c.1145C>G c.(1144-1146)GCG>GGG p.A382G GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.A383G NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 382 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 AGTGACCCAGCGCCTCTTGAT 0.373 8 6 --- --- --- --- PASS PPARGC1A 10891 broad.mit.edu 37 4 23886493 23886493 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:23886493G>C uc003gqs.2 - 2 236 c.116C>G c.(115-117)TCT>TGT p.S39C PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_RNA|PPARGC1A_uc003gqu.3_Missense_Mutation_p.S39C NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 39 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) ATCTAGTTCAGAAAGATCAAG 0.428 15 11 --- --- --- --- PASS DHX15 1665 broad.mit.edu 37 4 24541881 24541881 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:24541881G>T uc003gqx.2 - 10 1804 c.1636C>A c.(1636-1638)CTG>ATG p.L546M DHX15_uc003gqw.2_5'Flank NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 546 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) AAAGCAGCCAGGTAATTCAAA 0.418 6 58 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49034612 49034612 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:49034612T>A uc003gyv.2 + 12 1720 c.1538T>A c.(1537-1539)GTG>GAG p.V513E CWH43_uc011bzl.1_Missense_Mutation_p.V486E NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 513 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 TACCCAATTGTGAAATCTGAG 0.468 96 82 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66197847 66197847 + Splice_Site SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:66197847C>T uc003hcy.2 - 17 3046 c.2853_splice c.e17-1 p.R951_splice EPHA5_uc003hcx.2_Splice_Site_p.R883_splice|EPHA5_uc003hcz.2_Splice_Site_p.R929_splice|EPHA5_uc011cah.1_Splice_Site_p.R952_splice|EPHA5_uc011cai.1_Splice_Site_p.R930_splice|EPHA5_uc003hda.2_Intron NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ATTAGATACTCTAAAACACAT 0.338 TSP Lung(17;0.13) 8 18 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66467453 66467453 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:66467453G>T uc003hcy.2 - 3 1009 c.816C>A c.(814-816)CCC>CCA p.P272P EPHA5_uc003hcx.2_Silent_p.P203P|EPHA5_uc003hcz.2_Silent_p.P272P|EPHA5_uc011cah.1_Silent_p.P272P|EPHA5_uc011cai.1_Silent_p.P272P|EPHA5_uc003hda.2_Silent_p.P272P NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 272 Extracellular (Potential).|Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AGTGCATTTTGGGAGGTTCAT 0.522 TSP Lung(17;0.13) 13 33 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 73963958 73963958 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:73963958C>G uc003hgp.2 - 26 4970 c.4853G>C c.(4852-4854)AGG>ACG p.R1618T ANKRD17_uc003hgo.2_Missense_Mutation_p.R1505T|ANKRD17_uc003hgq.2_Missense_Mutation_p.R1367T|ANKRD17_uc003hgr.2_Missense_Mutation_p.R1617T NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1618 Ser-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTGGAAATCCTCATGTTATC 0.473 54 113 --- --- --- --- PASS FAM175A 84142 broad.mit.edu 37 4 84403359 84403359 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:84403359C>G uc003hou.2 - 2 191 c.126G>C c.(124-126)AAG>AAC p.K42N FAM175A_uc003hov.2_5'UTR NM_139076 NP_620775 Q6UWZ7 F175A_HUMAN coiled-coil domain containing 98 42 MPN-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding kidney(1) 1 TAATGCTGTTCTTGGCTTCAC 0.328 7 58 --- --- --- --- PASS CDS1 1040 broad.mit.edu 37 4 85553014 85553014 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:85553014G>T uc011ccv.1 + 6 1121 c.623G>T c.(622-624)CGT>CTT p.R208L CDS1_uc010ike.1_Missense_Mutation_p.R12L NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 208 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) AAACATTATCGTCTGCAGTTT 0.328 30 87 --- --- --- --- PASS NUDT9 53343 broad.mit.edu 37 4 88356326 88356326 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:88356326G>A uc003hqq.2 + 2 624 c.301G>A c.(301-303)GCA>ACA p.A101T NUDT9_uc003hqr.2_Missense_Mutation_p.A51T|NUDT9_uc010ikl.2_Missense_Mutation_p.A101T NM_024047 NP_076952 Q9BW91 NUDT9_HUMAN nudix-type motif 9 isoform a 101 mitochondrion ADP-ribose diphosphatase activity 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) GGAATACACTGCAGTCTCTGT 0.483 16 54 --- --- --- --- PASS MMRN1 22915 broad.mit.edu 37 4 90857906 90857906 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:90857906G>C uc003hst.2 + 6 3146 c.3075G>C c.(3073-3075)CTG>CTC p.L1025L MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.L767L NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 1025 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CCACAGTCCTGATAGGCCGGA 0.348 23 51 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111470983 111470983 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:111470983A>T uc003iab.3 + 17 2784 c.2442A>T c.(2440-2442)CAA>CAT p.Q814H NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 814 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CATTAGCTCAAGAAAAAGAAA 0.363 20 39 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123122179 123122179 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:123122179A>T uc003ieh.2 + 13 1441 c.1396A>T c.(1396-1398)AGC>TGC p.S466C KIAA1109_uc003iei.1_Missense_Mutation_p.S220C|KIAA1109_uc010ins.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 466 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CATCAATGCCAGCTACCCCCG 0.393 13 29 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126402738 126402738 + Nonsense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:126402738C>T uc003ifj.3 + 15 12661 c.12661C>T c.(12661-12663)CAG>TAG p.Q4221* FAT4_uc011cgp.1_Nonsense_Mutation_p.Q2462*|FAT4_uc003ifi.1_Nonsense_Mutation_p.Q1699* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4221 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCACATGAGTCAGAATGAGAA 0.438 18 62 --- --- --- --- PASS INPP4B 8821 broad.mit.edu 37 4 143003250 143003250 + Nonsense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:143003250G>C uc003iix.3 - 26 3171 c.2576C>G c.(2575-2577)TCA>TGA p.S859* INPP4B_uc003iiw.3_Nonsense_Mutation_p.S859*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.S674*|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 859 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TCTCAAGATTGAGCATTGTTC 0.398 13 53 --- --- --- --- PASS NR3C2 4306 broad.mit.edu 37 4 149357659 149357659 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:149357659G>T uc003ilj.3 - 2 688 c.354C>A c.(352-354)TCC>TCA p.S118S NR3C2_uc003ilk.3_Silent_p.S118S|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 118 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GCTGCTCATAGGAATAGTCAG 0.398 6 76 --- --- --- --- PASS KIAA0922 23240 broad.mit.edu 37 4 154557706 154557706 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:154557706C>A uc003inm.3 + 35 4860 c.4808C>A c.(4807-4809)TCG>TAG p.S1603* KIAA0922_uc010ipp.2_Nonsense_Mutation_p.S1604*|KIAA0922_uc010ipq.2_Nonsense_Mutation_p.S1372* NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1603 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) TCTAGAGACTCGAGTTACTGT 0.398 4 69 --- --- --- --- PASS NPY2R 4887 broad.mit.edu 37 4 156135450 156135450 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr4:156135450C>G uc003ioq.2 + 2 854 c.359C>G c.(358-360)CCT>CGT p.P120R NPY2R_uc003ior.2_Missense_Mutation_p.P120R NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 120 Extracellular (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) AAAATGGGTCCTGTCCTGTGC 0.517 6 23 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32101345 32101345 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:32101345G>T uc003jhl.2 + 24 8741 c.8353G>T c.(8353-8355)GGT>TGT p.G2785C PDZD2_uc003jhm.2_Missense_Mutation_p.G2785C|PDZD2_uc003jhn.2_RNA NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2785 PDZ 6. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGTGTACAAAGGTAATGTTCT 0.448 5 29 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37293025 37293025 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:37293025C>T uc003jku.1 - 34 4111 c.3993G>A c.(3991-3993)TTG>TTA p.L1331L NUP155_uc003jkt.1_Silent_p.L1272L|NUP155_uc010iuz.1_Silent_p.L1267L NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1331 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATATCTTATCAATAATACAT 0.303 13 57 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38350668 38350668 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:38350668G>T uc003jlc.1 + 4 681 c.357G>T c.(355-357)CAG>CAT p.Q119H EGFLAM_uc003jlb.1_Missense_Mutation_p.Q119H NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 119 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CTTACAGCCAGGCTGGCAAAG 0.478 10 43 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40852638 40852638 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:40852638C>A uc003jmg.2 + 3 1279 c.1204C>A c.(1204-1206)CAG>AAG p.Q402K NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 402 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 GTATCAGTGCCAGTTTGCTCT 0.453 22 31 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41172358 41172358 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:41172358G>T uc003jmk.2 - 9 1470 c.1260C>A c.(1258-1260)TGC>TGA p.C420* C6_uc003jml.1_Nonsense_Mutation_p.C420* NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 420 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGTTGGTGGTGCACCTATGTT 0.428 15 34 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382435 41382435 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:41382435T>A uc003jmm.1 - 2 407 c.305A>T c.(304-306)AAG>ATG p.K102M NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 102 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 GTCTCTGGGCTTGGTGGAAAT 0.448 22 25 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382437 41382437 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:41382437G>A uc003jmm.1 - 2 405 c.303C>T c.(301-303)ACC>ACT p.T101T NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 101 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 CTCTGGGCTTGGTGGAAATTC 0.448 22 26 --- --- --- --- PASS C5orf34 375444 broad.mit.edu 37 5 43506176 43506176 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:43506176G>T uc003jnz.1 - 5 923 c.606C>A c.(604-606)ATC>ATA p.I202I C5orf34_uc011cpx.1_Silent_p.I88I NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 202 breast(1) 1 Lung NSC(6;2.07e-05) TGGATTTCATGATCTGGCAAT 0.373 31 58 --- --- --- --- PASS ERBB2IP 55914 broad.mit.edu 37 5 65349881 65349881 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:65349881G>T uc003juk.1 + 21 3043 c.2735G>T c.(2734-2736)AGG>ATG p.R912M ERBB2IP_uc003jui.1_Missense_Mutation_p.R912M|ERBB2IP_uc003juj.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqx.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqy.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.R908M|ERBB2IP_uc003jul.1_Missense_Mutation_p.R908M NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 912 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AATATAGTCAGGAGCAAGTCT 0.383 11 516 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71495083 71495083 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:71495083C>T uc003kbw.3 + 5 6142 c.5901C>T c.(5899-5901)CCC>CCT p.P1967P MAP1B_uc010iyw.1_Silent_p.P1984P|MAP1B_uc010iyx.1_Silent_p.P1841P|MAP1B_uc010iyy.1_Silent_p.P1841P NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1967 MAP1B 6. microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CCAGCCCCCCCGAAGTGAGTG 0.478 47 29 --- --- --- --- PASS CKMT2 1160 broad.mit.edu 37 5 80554960 80554960 + Nonsense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:80554960C>T uc003khc.3 + 9 1143 c.901C>T c.(901-903)CGA>TGA p.R301* RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Nonsense_Mutation_p.R301*|CKMT2_uc003khd.3_Nonsense_Mutation_p.R301*|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 301 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) AATCCAAGAACGAGGCTGGGA 0.473 39 46 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89999498 89999498 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:89999498C>G uc003kju.2 + 35 8268 c.8172C>G c.(8170-8172)TTC>TTG p.F2724L GPR98_uc003kjt.2_Missense_Mutation_p.F430L|GPR98_uc003kjv.2_Missense_Mutation_p.F324L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2724 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTTACAATTCCATGTGATAA 0.328 3 4 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140208255 140208255 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:140208255G>A uc003lho.2 + 1 606 c.579G>A c.(577-579)GGG>GGA p.G193G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.G193G|PCDHA6_uc011dab.1_Silent_p.G193G NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 193 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAAATTGGGCTCTTATTAA 0.428 28 31 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140558864 140558864 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:140558864G>T uc011dai.1 + 1 1435 c.1249G>T c.(1249-1251)GAG>TAG p.E417* PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 417 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGCAGAGCCGAGTACAACGT 0.507 10 205 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140590630 140590630 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:140590630C>A uc003liz.2 + 1 2340 c.2151C>A c.(2149-2151)AGC>AGA p.S717R PCDHB12_uc011dak.1_Missense_Mutation_p.S380R|PCDHB13_uc003lja.1_5'Flank NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 717 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGAGGAGCAGGGCGGCCC 0.662 27 33 --- --- --- --- PASS DPYSL3 1809 broad.mit.edu 37 5 146778759 146778759 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:146778759G>T uc003lon.1 - 11 1277 c.1167C>A c.(1165-1167)GCC>GCA p.A389A DPYSL3_uc003loo.2_Silent_p.A503A NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 389 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGATCTTGGCAGCGTTTG 0.448 7 120 --- --- --- --- PASS CCNG1 900 broad.mit.edu 37 5 162866308 162866308 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:162866308C>A uc003lzb.2 + 3 180 c.46C>A c.(46-48)CAG>AAG p.Q16K CCNG1_uc011dek.1_Intron|CCNG1_uc011del.1_Intron|CCNG1_uc003lzc.2_RNA NM_199246 NP_954854 P51959 CCNG1_HUMAN cyclin G1 16 cell division|mitosis|regulation of cyclin-dependent protein kinase activity nucleus lung(1)|kidney(1) 2 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) ACTGCTACACCAGCTGAATGC 0.443 5 75 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168096832 168096832 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:168096832T>A uc003mab.2 - 35 4712 c.4292A>T c.(4291-4293)TAC>TTC p.Y1431F SLIT3_uc010jjg.2_Missense_Mutation_p.Y1438F NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1431 EGF-like 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCACAGGCAGTAGGGCTCCCC 0.552 10 14 --- --- --- --- PASS CPEB4 80315 broad.mit.edu 37 5 173317590 173317590 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:173317590G>T uc003mcs.3 + 1 2260 c.854G>T c.(853-855)TGG>TTG p.W285L CPEB4_uc010jju.1_Missense_Mutation_p.W285L|CPEB4_uc010jjv.2_Missense_Mutation_p.W285L|CPEB4_uc011dfg.1_Missense_Mutation_p.W285L|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 285 nucleotide binding|RNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCCTCTCCGTGGAGCAGCTAC 0.582 6 143 --- --- --- --- PASS HK3 3101 broad.mit.edu 37 5 176317909 176317909 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:176317909A>T uc003mfa.2 - 5 540 c.448T>A c.(448-450)TTC>ATC p.F150I HK3_uc003mez.2_5'Flank NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 150 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCATCCAGGAACTCAGACAGG 0.607 15 16 --- --- --- --- PASS STK38 11329 broad.mit.edu 37 6 36483123 36483123 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:36483123C>T uc003omg.2 - 6 1249 c.661G>A c.(661-663)GAC>AAC p.D221N STK38_uc003omh.2_Missense_Mutation_p.D221N|STK38_uc003omi.2_Missense_Mutation_p.D221N NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 221 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 ACCTTGCTGTCCAAAAGAAGG 0.468 24 24 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39836641 39836641 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:39836641G>T uc003oow.2 + 7 961 c.805G>T c.(805-807)GAT>TAT p.D269Y DAAM2_uc010jxc.2_Missense_Mutation_p.D269Y|DAAM2_uc003oox.2_Missense_Mutation_p.D269Y NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 269 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CCGGTACCGGGATGAAGTGAA 0.562 6 11 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51613076 51613076 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:51613076G>T uc003pah.1 - 58 9614 c.9338C>A c.(9337-9339)TCT>TAT p.S3113Y PKHD1_uc010jzn.1_Missense_Mutation_p.S1096Y|PKHD1_uc003pai.2_Missense_Mutation_p.S3113Y NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3113 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CAGTTCACAAGAGGAGCACTT 0.483 9 303 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55684595 55684595 + Nonsense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:55684595G>A uc003pcq.2 - 2 1253 c.541C>T c.(541-543)CGA>TGA p.R181* BMP5_uc011dxf.1_Nonsense_Mutation_p.R181* NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 181 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) AGATCAAATCGAAATTCTTTG 0.388 9 9 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56426228 56426228 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:56426228G>C uc003pdf.2 - 51 7859 c.7831C>G c.(7831-7833)CAG>GAG p.Q2611E DST_uc003pcz.3_Missense_Mutation_p.Q2433E|DST_uc011dxj.1_Missense_Mutation_p.Q2462E|DST_uc011dxk.1_Missense_Mutation_p.Q2473E|DST_uc003pcy.3_Missense_Mutation_p.Q2107E NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4519 Spectrin 4. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GATTCTTCCTGAGCCTTTTGC 0.418 28 33 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56462639 56462639 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:56462639C>A uc003pdf.2 - 41 5765 c.5737G>T c.(5737-5739)GGA>TGA p.G1913* DST_uc003pcz.3_Nonsense_Mutation_p.G1735*|DST_uc011dxj.1_Nonsense_Mutation_p.G1764*|DST_uc011dxk.1_Nonsense_Mutation_p.G1775*|DST_uc003pcy.3_Nonsense_Mutation_p.G1409*|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3821 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCTCTTCTCCAATTGCTGAC 0.423 35 37 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69653823 69653823 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:69653823G>T uc003pev.3 + 6 1580 c.1132G>T c.(1132-1134)GGA>TGA p.G378* BAI3_uc010kak.2_Nonsense_Mutation_p.G378* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 378 Extracellular (Potential).|TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TCCTCAGTATGGAGGAAGGCC 0.453 5 50 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70900066 70900066 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:70900066G>T uc003pfc.1 + 48 3192 c.3075G>T c.(3073-3075)GAG>GAT p.E1025D NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1025 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TTAATCAAGAGGTCCTAAGGA 0.209 13 21 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76023132 76023132 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:76023132G>T uc003pia.2 - 5 2789 c.2416C>A c.(2416-2418)CAA>AAA p.Q806K FILIP1_uc003phy.1_Missense_Mutation_p.Q806K|FILIP1_uc003phz.2_Missense_Mutation_p.Q707K|FILIP1_uc010kbe.2_Missense_Mutation_p.Q809K|FILIP1_uc003pib.1_Missense_Mutation_p.Q558K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 806 skin(3)|ovary(1) 4 GCATCAGTTTGGACTCCAGTT 0.473 7 115 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90605195 90605195 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:90605195C>T uc011eaa.1 + 1 1008 c.1008C>T c.(1006-1008)AGC>AGT p.S336S NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 336 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) ATGTTCACAGCCCGTGTCCCT 0.532 OREG0004442 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CX62|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 17 23 --- --- --- --- PASS CCNC 892 broad.mit.edu 37 6 99997415 99997415 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:99997415G>A uc003pqe.2 - 9 854 c.567C>T c.(565-567)TGC>TGT p.C189C uc003pqc.2_Intron|CCNC_uc003pqd.2_Silent_p.C104C|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.C188C|CCNC_uc011eah.1_Silent_p.C104C NM_005190 NP_005181 P24863 CCNC_HUMAN cyclin C isoform a 189 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme protein kinase binding 0 all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.064) GATACAGTAGGCAAAGATCCG 0.328 4 19 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123332129 123332129 + Splice_Site SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:123332129G>T uc003pzi.1 + 3 1259 c.390_splice c.e3-1 p.R130_splice NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GTCGCCGATAGGTACACACTG 0.353 5 74 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146351083 146351083 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:146351083G>T uc010khw.1 + 2 900 c.430G>T c.(430-432)GGC>TGC p.G144C GRM1_uc010khu.1_Missense_Mutation_p.G144C|GRM1_uc010khv.1_Missense_Mutation_p.G144C|GRM1_uc003qll.2_Missense_Mutation_p.G144C|GRM1_uc011edz.1_Missense_Mutation_p.G144C|GRM1_uc011eea.1_Missense_Mutation_p.G144C NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 144 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCTGCCTGACGGCCAGTCCCT 0.567 35 19 --- --- --- --- PASS SASH1 23328 broad.mit.edu 37 6 148711341 148711341 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:148711341C>T uc003qme.1 + 2 703 c.228C>T c.(226-228)GAC>GAT p.D76D NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 76 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GTTTCTCCGACGTGTGCGAGA 0.562 19 52 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152665276 152665276 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:152665276G>T uc010kiw.2 - 74 12767 c.12165C>A c.(12163-12165)GTC>GTA p.V4055V SYNE1_uc003qot.3_Silent_p.V3984V|SYNE1_uc003qou.3_Silent_p.V4055V|SYNE1_uc010kja.1_Silent_p.V760V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4055 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) AATCCGGCTGGACTGCAGAAA 0.478 HNSCC(10;0.0054) 39 18 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152708431 152708431 + Nonsense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:152708431T>A uc010kiw.2 - 54 8865 c.8263A>T c.(8263-8265)AAA>TAA p.K2755* SYNE1_uc003qot.3_Nonsense_Mutation_p.K2762*|SYNE1_uc003qou.3_Nonsense_Mutation_p.K2755*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K2738* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2755 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) TGTTCTATTTTTTGATCCACT 0.448 HNSCC(10;0.0054) 37 27 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152757184 152757184 + Missense_Mutation SNP T G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:152757184T>G uc010kiw.2 - 33 4804 c.4202A>C c.(4201-4203)AAG>ACG p.K1401T SYNE1_uc003qot.3_Missense_Mutation_p.K1408T|SYNE1_uc003qou.3_Missense_Mutation_p.K1401T|SYNE1_uc010kjb.1_Missense_Mutation_p.K1384T|SYNE1_uc003qow.2_Missense_Mutation_p.K696T|SYNE1_uc003qox.1_Missense_Mutation_p.K917T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1401 Potential.|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) TGAAGCTTCCTTTACAAGGTT 0.388 HNSCC(10;0.0054) 9 70 --- --- --- --- PASS SNX9 51429 broad.mit.edu 37 6 158327175 158327175 + Silent SNP G A A rs138249048 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:158327175G>A uc003qqv.1 + 7 809 c.636G>A c.(634-636)GCG>GCA p.A212A NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 212 Critical for tubulation activity. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) CTGGATTTGCGAAACCTGGCA 0.333 6 29 --- --- --- --- PASS UNC93A 54346 broad.mit.edu 37 6 167717471 167717471 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr6:167717471G>T uc003qvq.2 + 5 865 c.690G>T c.(688-690)CGG>CGT p.R230R UNC93A_uc003qvr.2_Silent_p.R188R NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 230 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ATGTTCAGCGGGAAAGTgaag 0.294 7 81 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4169550 4169550 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:4169550G>T uc003smx.2 + 27 4089 c.3950G>T c.(3949-3951)CGG>CTG p.R1317L SDK1_uc010kso.2_Missense_Mutation_p.R593L|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1317 Fibronectin type-III 7. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ATCCTGTTCCGGGCCAAAGAC 0.647 31 23 --- --- --- --- PASS WIPI2 26100 broad.mit.edu 37 7 5262287 5262287 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:5262287C>A uc003snv.2 + 8 940 c.724C>A c.(724-726)CGG>AGG p.R242R WIPI2_uc003snw.2_Silent_p.R242R|WIPI2_uc003snx.2_Silent_p.R224R|WIPI2_uc003sny.2_Silent_p.R224R|WIPI2_uc010ksv.2_Silent_p.R98R|WIPI2_uc003soa.2_Silent_p.R183R|WIPI2_uc003sob.2_5'UTR NM_015610 NP_056425 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 242 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding ovary(2) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) CTTTGAGTTTCGGAGAGGAGT 0.373 5 167 --- --- --- --- PASS TWISTNB 221830 broad.mit.edu 37 7 19738049 19738049 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:19738049G>T uc003sup.1 - 4 928 c.907C>A c.(907-909)CAA>AAA p.Q303K NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 303 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 TGGTCACTTTGGTAACCACTG 0.418 12 722 --- --- --- --- PASS SP4 6671 broad.mit.edu 37 7 21550868 21550868 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:21550868C>A uc003sva.2 + 6 2517 c.2336C>A c.(2335-2337)ACC>AAC p.T779N SP4_uc003svb.2_Missense_Mutation_p.T466N NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 779 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 AATGTTTCAACCAACATGGAA 0.428 51 19 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21757524 21757524 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:21757524C>A uc003svc.2 + 44 7167 c.7136C>A c.(7135-7137)CCT>CAT p.P2379H NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2379 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ACTTCAATTCCTGAGAGTAGC 0.398 Kartagener_syndrome 11 389 --- --- --- --- PASS CDCA7L 55536 broad.mit.edu 37 7 21945920 21945920 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:21945920C>A uc010kuk.2 - 6 1028 c.908G>T c.(907-909)AGG>ATG p.R303M CDCA7L_uc003sve.3_Missense_Mutation_p.R269M|CDCA7L_uc010kul.2_Missense_Mutation_p.R257M|CDCA7L_uc003svf.3_Missense_Mutation_p.R302M NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 303 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 AATTGTCTTCCTTCTTCGGAA 0.443 9 365 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23775395 23775395 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:23775395C>A uc003sws.3 + 7 789 c.722C>A c.(721-723)CCT>CAT p.P241H STK31_uc003swt.3_Missense_Mutation_p.P218H|STK31_uc011jze.1_Missense_Mutation_p.P241H|STK31_uc010kuq.2_Missense_Mutation_p.P218H NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 241 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 AGCCCCATTCCTTTGTGGGGG 0.453 8 219 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48266877 48266877 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:48266877G>T uc003toq.2 + 6 512 c.487G>T c.(487-489)GAG>TAG p.E163* ABCA13_uc003top.2_Nonsense_Mutation_p.E163*|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 163 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CAATAAGACCGAGGAGGTAAT 0.398 5 116 --- --- --- --- PASS VWC2 375567 broad.mit.edu 37 7 49842319 49842319 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:49842319G>T uc003tot.1 + 3 1265 c.709G>T c.(709-711)GAG>TAG p.E237* NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 237 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space 0 GTCTCCATGCGAGAGGTGTCG 0.473 37 42 --- --- --- --- PASS GNAT3 346562 broad.mit.edu 37 7 80108231 80108231 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:80108231C>T uc011kgu.1 - 4 387 c.387G>A c.(385-387)CGG>CGA p.R129R CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 129 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 CTCTCCACAGCCGTTTTATTA 0.443 19 109 --- --- --- --- PASS SEMA3C 10512 broad.mit.edu 37 7 80418629 80418629 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:80418629G>T uc003uhj.2 - 12 1909 c.1347C>A c.(1345-1347)CTC>CTA p.L449L SEMA3C_uc011kgw.1_Silent_p.L467L NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 449 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 TACCTGTTCCGAGAAACAGGA 0.393 5 86 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82580167 82580167 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:82580167C>A uc003uhx.2 - 6 10026 c.9737G>T c.(9736-9738)CGA>CTA p.R3246L PCLO_uc003uhv.2_Missense_Mutation_p.R3246L|PCLO_uc010lec.2_Missense_Mutation_p.R211L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3177 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTCTTGTTCTCGGAACCTTTG 0.473 4 94 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92763543 92763543 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:92763543G>A uc003umh.1 - 5 2958 c.1742C>T c.(1741-1743)TCT>TTT p.S581F SAMD9L_uc003umj.1_Missense_Mutation_p.S581F|SAMD9L_uc003umi.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S581F|SAMD9L_uc003umk.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S581F|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 581 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGAGTTTACAGAGATACACAA 0.353 13 66 --- --- --- --- PASS AGFG2 3268 broad.mit.edu 37 7 100151098 100151098 + Nonsense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:100151098C>G uc003uvf.2 + 4 696 c.560C>G c.(559-561)TCA>TGA p.S187* AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.Q49E NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 187 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 CCGTCTCTCTCAGTTGCTGCC 0.542 11 64 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677488 100677488 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:100677488G>C uc003uxp.1 + 3 2844 c.2791G>C c.(2791-2793)GAC>CAC p.D931H MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 931 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AAGTATGCCTGACAGCACCAC 0.507 111 222 --- --- --- --- PASS LRRC17 10234 broad.mit.edu 37 7 102585004 102585004 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:102585004A>G uc003vau.2 + 4 1665 c.1276A>G c.(1276-1278)AGA>GGA p.R426G FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 426 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 AAAAAAACATAGAGATCACAC 0.338 13 61 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103180820 103180820 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:103180820G>C uc003vca.2 - 44 6914 c.6754C>G c.(6754-6756)CTC>GTC p.L2252V RELN_uc010liz.2_Missense_Mutation_p.L2252V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2252 BNR 10. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCACCGTTGAGAGAATACTGT 0.502 48 69 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103205825 103205825 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:103205825G>A uc003vca.2 - 34 5270 c.5110C>T c.(5110-5112)CCA>TCA p.P1704S RELN_uc010liz.2_Missense_Mutation_p.P1704S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1704 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCAATGGTTGGAGGAACACAC 0.493 10 36 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103230190 103230190 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:103230190A>G uc003vca.2 - 28 4158 c.3998T>C c.(3997-3999)CTG>CCG p.L1333P RELN_uc010liz.2_Missense_Mutation_p.L1333P NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1333 BNR 5. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCTTTCACCAGAAACCAGGA 0.468 37 79 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110764903 110764903 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:110764903C>G uc003vft.3 + 4 3121 c.2075C>G c.(2074-2076)ACA>AGA p.T692R IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.T692R|LRRN3_uc003vfs.3_Missense_Mutation_p.T692R NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 692 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GAAAAAAGTACATCACTGAAA 0.353 9 41 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113519652 113519652 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:113519652C>G uc010ljy.1 - 4 1526 c.1495G>C c.(1495-1497)GAA>CAA p.E499Q NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 499 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TCTGTTGATTCTTTGAGACAT 0.318 16 31 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121668637 121668637 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:121668637G>T uc003vjy.2 + 14 5415 c.5020G>T c.(5020-5022)GAG>TAG p.E1674* PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.E814*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.E264* NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1674 Cytoplasmic (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CTTTTACTTAGAGGACAGTAC 0.388 5 33 --- --- --- --- PASS FEZF1 389549 broad.mit.edu 37 7 121944015 121944015 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:121944015G>T uc003vkd.2 - 1 551 c.477C>A c.(475-477)GCC>GCA p.A159A FEZF1_uc003vkc.2_Intron|uc010lko.1_RNA|uc003vkf.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 159 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 GGTAGCACAAGGCGCCCATGG 0.657 5 3 --- --- --- --- PASS AKR1B15 441282 broad.mit.edu 37 7 134253033 134253033 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:134253033C>A uc011kpr.1 + 4 573 c.274C>A c.(274-276)CAA>AAA p.Q92K AKR1B15_uc003vrt.2_Missense_Mutation_p.Q64K|AKR1B15_uc011kps.1_Missense_Mutation_p.Q64K NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 92 oxidoreductase activity ovary(1) 1 AGAGAAGATCCAAGAGAAGGC 0.512 8 152 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136699829 136699829 + Missense_Mutation SNP G T T rs11773032 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:136699829G>T uc003vtf.1 + 4 840 c.217G>T c.(217-219)GGT>TGT p.G73C CHRM2_uc003vtg.1_Missense_Mutation_p.G73C|CHRM2_uc003vtj.1_Missense_Mutation_p.G73C|CHRM2_uc003vtk.1_Missense_Mutation_p.G73C|CHRM2_uc003vtl.1_Missense_Mutation_p.G73C|CHRM2_uc003vtm.1_Missense_Mutation_p.G73C|CHRM2_uc003vti.1_Missense_Mutation_p.G73C|CHRM2_uc003vto.1_Missense_Mutation_p.G73C|CHRM2_uc003vtn.1_Missense_Mutation_p.G73C|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 73 Helical; Name=2; (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCTTATCATAGGTGTTTTCTC 0.478 6 89 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137172424 137172424 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:137172424C>A uc003vtt.2 - 23 2315 c.2314G>T c.(2314-2316)GGT>TGT p.G772C DGKI_uc003vtu.2_Missense_Mutation_p.G472C NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 772 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ACTAGAATACCCAGAGGTATC 0.363 8 161 --- --- --- --- PASS ZNF786 136051 broad.mit.edu 37 7 148769495 148769495 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:148769495G>T uc003wfh.2 - 4 506 c.369C>A c.(367-369)TCC>TCA p.S123S ZNF786_uc011kuk.1_Silent_p.S86S|ZNF786_uc003wfi.2_Silent_p.S37S NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) AGGATCCAAAGGAACACTGGC 0.507 4 18 --- --- --- --- PASS NCAPG2 54892 broad.mit.edu 37 7 158439183 158439183 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr7:158439183C>A uc003wnv.1 - 25 3293 c.3148G>T c.(3148-3150)GGA>TGA p.G1050* NCAPG2_uc010lqu.1_Nonsense_Mutation_p.G795*|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.G1050*|NCAPG2_uc011kwe.1_Nonsense_Mutation_p.G1050*|NCAPG2_uc011kwc.1_Nonsense_Mutation_p.G504*|NCAPG2_uc011kwd.1_Nonsense_Mutation_p.G493* NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 1050 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ATTATTATTCCTATTAAACAC 0.398 6 38 --- --- --- --- PASS SLC18A1 6570 broad.mit.edu 37 8 20031914 20031914 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:20031914G>C uc011kyq.1 - 6 1060 c.589C>G c.(589-591)CGA>GGA p.R197G SLC18A1_uc003wzl.2_5'Flank|SLC18A1_uc003wzm.2_Missense_Mutation_p.R197G|SLC18A1_uc011kyr.1_Missense_Mutation_p.R197G|SLC18A1_uc003wzn.2_Missense_Mutation_p.R197G|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.R197G NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 197 Lumenal, vesicle (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) TGAAGGGTTCGGGCCACAAAG 0.473 16 17 --- --- --- --- PASS RHOBTB2 23221 broad.mit.edu 37 8 22862901 22862901 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:22862901G>T uc003xcq.2 + 3 746 c.209G>T c.(208-210)CGA>CTA p.R70L RHOBTB2_uc003xcp.2_Missense_Mutation_p.R92L|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R77L NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 70 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GAACGCTCCCGAGACGTGGTA 0.607 4 40 --- --- --- --- PASS NEFM 4741 broad.mit.edu 37 8 24775752 24775752 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:24775752C>A uc003xed.3 + 3 2417 c.2384C>A c.(2383-2385)TCC>TAC p.S795Y NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Missense_Mutation_p.S419Y NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 795 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) gccaagggatccaggaaggaa 0.010 3 3 --- --- --- --- PASS WRN 7486 broad.mit.edu 37 8 31007883 31007883 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:31007883G>T uc003xio.3 + 31 4387 c.3599G>T c.(3598-3600)AGG>ATG p.R1200M WRN_uc010lvk.2_Missense_Mutation_p.R667M NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1200 HRDC. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AACGTAAAAAGGATTGATGGT 0.353 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 5 51 --- --- --- --- PASS ASH2L 9070 broad.mit.edu 37 8 37986347 37986347 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:37986347C>A uc003xkt.3 + 12 1463 c.1405C>A c.(1405-1407)CAC>AAC p.H469N ASH2L_uc011lbk.1_Missense_Mutation_p.H330N|ASH2L_uc003xku.3_Missense_Mutation_p.H375N|ASH2L_uc010lwa.2_Missense_Mutation_p.H375N NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 469 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) AACCAAGTTCCACCAGTCCAT 0.423 9 383 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52252201 52252201 + Missense_Mutation SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:52252201T>C uc003xqu.3 - 21 4230 c.4129A>G c.(4129-4131)ACA>GCA p.T1377A PXDNL_uc003xqt.3_Intron NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1377 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) CTGAGTGCTGTGATGGTTTCC 0.388 28 59 --- --- --- --- PASS RRS1 23212 broad.mit.edu 37 8 67342384 67342384 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:67342384G>T uc003xwa.2 + 1 1122 c.1018G>T c.(1018-1020)GGC>TGC p.G340C ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank NM_015169 NP_055984 Q15050 RRS1_HUMAN homolog of yeast ribosome biogenesis regulatory 340 Arg/Gly/Lys-rich. mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus 0 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GGGCTTGGGAGGCAAGATGAA 0.617 5 61 --- --- --- --- PASS COPS5 10987 broad.mit.edu 37 8 67970422 67970422 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:67970422C>A uc003xxe.2 - 3 734 c.403G>T c.(403-405)GGG>TGG p.G135W COPS5_uc003xxd.2_Missense_Mutation_p.G71W|COPS5_uc003xxf.2_Missense_Mutation_p.G180W|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.G135W NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 135 MPN. cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGATACCACCCGATTGCATTT 0.423 19 31 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767585 77767585 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:77767585A>G uc003yav.2 + 10 8680 c.8293A>G c.(8293-8295)ATC>GTC p.I2765V ZFHX4_uc003yau.1_Missense_Mutation_p.I2810V|ZFHX4_uc003yaw.1_Missense_Mutation_p.I2765V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2765 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) TAATACGGCAATCAGTGACGC 0.468 HNSCC(33;0.089) 17 55 --- --- --- --- PASS RIPK2 8767 broad.mit.edu 37 8 90782012 90782012 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:90782012G>T uc003yee.2 + 4 810 c.496G>T c.(496-498)GGT>TGT p.G166C RIPK2_uc003yef.2_Missense_Mutation_p.G29C NM_003821 NP_003812 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 166 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.0474) TGCAGATTTTGGTTTATCAAA 0.363 6 127 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 93017415 93017415 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:93017415G>T uc003yfd.2 - 5 753 c.669C>A c.(667-669)ACC>ACA p.T223T RUNX1T1_uc003yfc.1_Silent_p.T196T|RUNX1T1_uc003yfe.1_Silent_p.T186T|RUNX1T1_uc010mao.2_Silent_p.T196T|RUNX1T1_uc011lgi.1_Silent_p.T234T|RUNX1T1_uc003yfb.1_Silent_p.T186T|RUNX1T1_uc003yff.1_Silent_p.T186T NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 223 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGGTGAGGTGGTGCTGGCAT 0.592 31 68 --- --- --- --- PASS ANKRD46 157567 broad.mit.edu 37 8 101540109 101540109 + Nonsense_Mutation SNP G T T rs140674239 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:101540109G>T uc003yjm.2 - 4 638 c.434C>A c.(433-435)TCG>TAG p.S145* ANKRD46_uc003yjn.1_Nonsense_Mutation_p.S145*|ANKRD46_uc003yjo.1_Nonsense_Mutation_p.S145*|ANKRD46_uc003yjp.1_Nonsense_Mutation_p.S145* NM_198401 NP_940683 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 145 integral to membrane 0 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) CTCCAGTTTCGAGTGGGTTCC 0.368 6 76 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104898026 104898026 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:104898026G>T uc003yls.2 + 2 774 c.533G>T c.(532-534)CGT>CTT p.R178L RIMS2_uc003ylp.2_Missense_Mutation_p.R400L|RIMS2_uc003ylw.2_Missense_Mutation_p.R208L|RIMS2_uc003ylq.2_Missense_Mutation_p.R208L|RIMS2_uc003ylr.2_Missense_Mutation_p.R208L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 431 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATATCAGAACGTAGAGCTGCC 0.433 HNSCC(12;0.0054) 12 23 --- --- --- --- PASS TRHR 7201 broad.mit.edu 37 8 110131291 110131291 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:110131291G>T uc003ymz.3 + 2 820 c.804G>T c.(802-804)CTG>CTT p.L268L NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 268 Helical; Name=6; (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCAAGATGCTGGCAGTGGTTG 0.403 6 152 --- --- --- --- PASS DEPDC6 64798 broad.mit.edu 37 8 120940802 120940802 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:120940802G>C uc003yow.3 + 2 472 c.285G>C c.(283-285)CGG>CGC p.R95R DEPDC6_uc011lid.1_Intron NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 95 DEP 1. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TAGCAGACCGGGGCATTATTC 0.433 34 65 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133150161 133150161 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:133150161C>G uc003ytj.2 - 12 1896 c.1671G>C c.(1669-1671)ATG>ATC p.M557I KCNQ3_uc010mdt.2_Missense_Mutation_p.M557I NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 557 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCCTGGAAAGCATGTCGAGAT 0.458 45 85 --- --- --- --- PASS FLJ43860 389690 broad.mit.edu 37 8 142477649 142477649 + Splice_Site SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:142477649C>G uc003ywi.2 - 18 2254 c.2173_splice c.e18-1 p.D725_splice FLJ43860_uc011ljs.1_Splice_Site|FLJ43860_uc010meu.1_Splice_Site NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GCATGATATCCTGTACAGCGG 0.642 4 35 --- --- --- --- PASS ZNF696 79943 broad.mit.edu 37 8 144378212 144378212 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:144378212C>A uc003yxy.3 + 3 776 c.367C>A c.(367-369)CGG>AGG p.R123R NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CTGGAAGGGGCGGCCTTTCCC 0.677 3 10 --- --- --- --- PASS TOP1MT 116447 broad.mit.edu 37 8 144406177 144406177 + Missense_Mutation SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:144406177T>C uc003yxz.2 - 7 971 c.952A>G c.(952-954)ATC>GTC p.I318V TOP1MT_uc011lkd.1_Missense_Mutation_p.I220V|TOP1MT_uc011lke.1_Missense_Mutation_p.I220V|TOP1MT_uc010mfb.2_Missense_Mutation_p.I220V|TOP1MT_uc011lkf.1_Missense_Mutation_p.I113V|TOP1MT_uc010mfd.1_Missense_Mutation_p.I113V NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 318 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) ACCTTATCGATGAAATACAGG 0.607 12 36 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144997715 144997715 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:144997715G>A uc003zaf.1 - 31 6963 c.6793C>T c.(6793-6795)CGG>TGG p.R2265W PLEC_uc003zab.1_Missense_Mutation_p.R2128W|PLEC_uc003zac.1_Missense_Mutation_p.R2132W|PLEC_uc003zad.2_Missense_Mutation_p.R2128W|PLEC_uc003zae.1_Missense_Mutation_p.R2096W|PLEC_uc003zag.1_Missense_Mutation_p.R2106W|PLEC_uc003zah.2_Missense_Mutation_p.R2114W|PLEC_uc003zaj.2_Missense_Mutation_p.R2155W NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2265 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCTGAGCCCGGGCCTGTGCC 0.746 5 4 --- --- --- --- PASS DOCK8 81704 broad.mit.edu 37 9 312050 312050 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:312050C>T uc003zgf.2 + 6 737 c.625C>T c.(625-627)CGG>TGG p.R209W DOCK8_uc011lls.1_Missense_Mutation_p.R209W|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.R141W|DOCK8_uc010mgt.2_Missense_Mutation_p.R141W|DOCK8_uc003zgg.2_Missense_Mutation_p.R141W|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 209 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GCCTGACAAGCGGCTAGAAAA 0.602 58 28 --- --- --- --- PASS RFX3 5991 broad.mit.edu 37 9 3270516 3270516 + Missense_Mutation SNP A C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:3270516A>C uc003zhr.2 - 12 1524 c.1212T>G c.(1210-1212)AGT>AGG p.S404R RFX3_uc010mhd.2_Missense_Mutation_p.S404R|RFX3_uc003zhs.1_Missense_Mutation_p.S404R NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 404 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TTTCTATTTCACTCAGATTGC 0.353 41 15 --- --- --- --- PASS ERMP1 79956 broad.mit.edu 37 9 5811144 5811144 + Missense_Mutation SNP G T T rs139768756 byFrequency TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:5811144G>T uc003zjm.1 - 7 1348 c.1294C>A c.(1294-1296)CTG>ATG p.L432M ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.L46M NM_024896 NP_079172 Q7Z2K6 ERMP1_HUMAN aminopeptidase Fxna 432 Cytoplasmic (Potential). proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) TTTTTGCCCAGGTACAAAACA 0.403 5 77 --- --- --- --- PASS RANBP6 26953 broad.mit.edu 37 9 6014019 6014019 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:6014019G>A uc003zjr.2 - 1 1600 c.1589C>T c.(1588-1590)ACA>ATA p.T530I RANBP6_uc011lmf.1_Missense_Mutation_p.T178I|RANBP6_uc003zjs.2_Missense_Mutation_p.T118I NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 530 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TTCTTCTATTGTATCTGCAAC 0.388 51 27 --- --- --- --- PASS RRAGA 10670 broad.mit.edu 37 9 19049819 19049819 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:19049819G>A uc003znj.2 + 1 448 c.162G>A c.(160-162)GGG>GGA p.G54G NM_006570 NP_006561 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 54 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity 0 GATTCCTAGGGAACCTGGTGC 0.547 17 10 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971003 21971003 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:21971003C>A uc003zpk.2 - 2 567 c.355G>T c.(355-357)GAG>TAG p.E119* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Nonstop_Mutation_p.*174L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 119 ANK 4. E -> Q (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.E119Q(2)|p.E119*(2)|p.A118fs*10(1)|p.A118fs*27(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCAGCTCCTCAGCCAGGTCC 0.726 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 6 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77377029 77377029 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:77377029G>T uc004ajl.1 - 26 4796 c.4558C>A c.(4558-4560)CAG>AAG p.Q1520K TRPM6_uc004ajk.1_Missense_Mutation_p.Q1515K|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.Q476K NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1520 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTGTTTGGCTGAAGCCATGGT 0.488 5 62 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77431640 77431640 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:77431640C>G uc004ajl.1 - 11 1491 c.1253G>C c.(1252-1254)TGG>TCG p.W418S TRPM6_uc004ajk.1_Missense_Mutation_p.W413S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.W418S|TRPM6_uc010mpd.1_Missense_Mutation_p.W418S|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 418 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CACCCTGTCCCAAGCCATTGC 0.353 21 49 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79259819 79259819 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:79259819G>C uc010mpk.2 - 12 8688 c.8564C>G c.(8563-8565)ACA>AGA p.T2855R PRUNE2_uc011lsk.1_Missense_Mutation_p.T104R|PRUNE2_uc011lsl.1_Missense_Mutation_p.T119R|PRUNE2_uc011lsm.1_Missense_Mutation_p.T120R|PRUNE2_uc004akj.3_Missense_Mutation_p.T309R|PRUNE2_uc010mpl.1_Missense_Mutation_p.T309R NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2855 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTTGTTGGCTGTGGGATCTTC 0.493 15 25 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84610038 84610038 + Silent SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:84610038T>C uc004amn.2 + 4 4700 c.4653T>C c.(4651-4653)TTT>TTC p.F1551F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1551 integral to membrane 0 GCCCTGTGTTTAGTGATGTGC 0.502 5 12 --- --- --- --- PASS C9orf3 84909 broad.mit.edu 37 9 97844894 97844894 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:97844894G>T uc004ava.2 + 15 2492 c.2357G>T c.(2356-2358)AGT>ATT p.S786I C9orf3_uc004auy.2_Missense_Mutation_p.S687I|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.S148I|C9orf3_uc011luk.1_Missense_Mutation_p.S127I|C9orf3_uc004avd.2_Missense_Mutation_p.S148I|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 786 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) CTGATGGTGAGTGAGGACGCC 0.602 14 19 --- --- --- --- PASS HEMGN 55363 broad.mit.edu 37 9 100692888 100692888 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:100692888T>A uc004axy.2 - 3 897 c.789A>T c.(787-789)AAA>AAT p.K263N HEMGN_uc004axz.2_Missense_Mutation_p.K263N NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 263 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GCACATCTGGTTTTGGATATG 0.443 53 108 --- --- --- --- PASS HEMGN 55363 broad.mit.edu 37 9 100693092 100693092 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:100693092C>A uc004axy.2 - 3 693 c.585G>T c.(583-585)AAG>AAT p.K195N HEMGN_uc004axz.2_Missense_Mutation_p.K195N NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 195 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) CTTCAGGTTCCTTCATGTCTT 0.388 8 224 --- --- --- --- PASS ALG2 85365 broad.mit.edu 37 9 101980729 101980729 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:101980729G>A uc004azf.2 - 2 808 c.738C>T c.(736-738)GCC>GCT p.A246A ALG2_uc004azg.2_Silent_p.A153A NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 246 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) GCTGTACTAGGGCTTCCAGTG 0.488 21 114 --- --- --- --- PASS OR13C8 138802 broad.mit.edu 37 9 107331952 107331952 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:107331952C>G uc011lvo.1 + 1 504 c.504C>G c.(502-504)TTC>TTG p.F168L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGTTACCATTCTGTGCTAATA 0.448 17 49 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107550224 107550224 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:107550224C>T uc004bcl.2 - 46 6494 c.6181G>A c.(6181-6183)GGC>AGC p.G2061S NIPSNAP3B_uc004bcj.1_RNA NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 2061 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGAGGCCCGCCGATCAAAGCC 0.478 19 46 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113241915 113241915 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:113241915C>T uc010mtz.2 - 13 2824 c.2487G>A c.(2485-2487)ATG>ATA p.M829I SVEP1_uc010mua.1_Missense_Mutation_p.M829I|SVEP1_uc004beu.2_Missense_Mutation_p.M829I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 829 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ATTGATGTACCATTTTTCCCA 0.388 56 154 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115806333 115806333 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:115806333C>A uc004bgm.1 - 4 593 c.565G>T c.(565-567)GAT>TAT p.D189Y ZFP37_uc011lwz.1_Missense_Mutation_p.D204Y|ZFP37_uc011lxa.1_Missense_Mutation_p.D190Y NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 189 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TCAGGTAAATCTAAATTCTGT 0.318 34 51 --- --- --- --- PASS FKBP15 23307 broad.mit.edu 37 9 115956357 115956357 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:115956357G>T uc004bgs.2 - 10 1075 c.957C>A c.(955-957)CTC>CTA p.L319L FKBP15_uc010muu.1_Silent_p.L383L|FKBP15_uc011lxd.1_Silent_p.L251L|FKBP15_uc010mut.1_Silent_p.L187L|FKBP15_uc004bgt.2_Silent_p.L319L NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 319 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 GATCAGCAGAGAGGTTGTCAG 0.463 6 81 --- --- --- --- PASS COL27A1 85301 broad.mit.edu 37 9 116984503 116984503 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:116984503G>T uc011lxl.1 + 14 2422 c.2422G>T c.(2422-2424)GGA>TGA p.G808* COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 808 Pro-rich.|Triple-helical region.|Collagen-like 4. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CTATCTGCAGGGAGAACTGGG 0.607 5 52 --- --- --- --- PASS GSN 2934 broad.mit.edu 37 9 124083615 124083615 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:124083615G>T uc004blf.1 + 10 1475 c.1414G>T c.(1414-1416)GAC>TAC p.D472Y GSN_uc004bld.1_Missense_Mutation_p.D421Y|GSN_uc010mvq.1_Missense_Mutation_p.D432Y|GSN_uc010mvr.1_Missense_Mutation_p.D432Y|GSN_uc010mvu.1_Missense_Mutation_p.D421Y|GSN_uc010mvt.1_Missense_Mutation_p.D421Y|GSN_uc010mvs.1_Missense_Mutation_p.D421Y|GSN_uc004ble.1_Missense_Mutation_p.D421Y|GSN_uc010mvv.1_Missense_Mutation_p.D421Y|GSN_uc011lyh.1_Missense_Mutation_p.D438Y|GSN_uc011lyi.1_Missense_Mutation_p.D421Y|GSN_uc011lyj.1_Missense_Mutation_p.D445Y|GSN_uc004blg.1_Missense_Mutation_p.D203Y NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 472 Actin-binding, Ca-sensitive (Potential).|Gelsolin-like 4. actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 CTATGGAGGCGACAGCTACAT 0.547 12 19 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126144461 126144461 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:126144461G>A uc004bnz.1 - 22 2513 c.2280C>T c.(2278-2280)GGC>GGT p.G760G DENND1A_uc011lzl.1_Silent_p.G578G|DENND1A_uc004bny.1_Silent_p.G542G|DENND1A_uc011lzm.1_Silent_p.G771G|DENND1A_uc010mwh.1_Silent_p.G181G NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 760 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 GTTCAGTGGGGCCTTGGGGGA 0.706 4 4 --- --- --- --- PASS FAM129B 64855 broad.mit.edu 37 9 130287409 130287409 + Missense_Mutation SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:130287409T>C uc004brh.2 - 4 551 c.349A>G c.(349-351)ATC>GTC p.I117V FAM129B_uc004bri.2_Missense_Mutation_p.I104V|FAM129B_uc004brj.3_Missense_Mutation_p.I117V NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 117 PH. protein binding 0 GCACTGTTGATGACGGCTCGT 0.582 8 22 --- --- --- --- PASS GLE1 2733 broad.mit.edu 37 9 131287581 131287581 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:131287581G>C uc004bvj.2 + 7 1122 c.1008G>C c.(1006-1008)AAG>AAC p.K336N GLE1_uc004bvi.2_Missense_Mutation_p.K336N|GLE1_uc010myd.2_Missense_Mutation_p.K82N NM_001003722 NP_001003722 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator homolog isoform 1 336 Potential. poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding 0 GCGAAGACAAGAGGAGGCAGG 0.612 18 30 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135202449 135202449 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:135202449C>A uc004cbk.2 - 10 4719 c.4536G>T c.(4534-4536)ATG>ATT p.M1512I SETX_uc004cbj.2_Missense_Mutation_p.M1131I|SETX_uc010mzt.2_Missense_Mutation_p.M1131I NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1512 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGTCATTCTCCATTTGTGAAC 0.368 23 61 --- --- --- --- PASS TTF1 7270 broad.mit.edu 37 9 135273606 135273606 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr9:135273606G>T uc004cbl.2 - 4 1751 c.1699C>A c.(1699-1701)CTG>ATG p.L567M TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.L52M NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 567 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TCCGTGTACAGCAGCTTGTCT 0.378 5 42 --- --- --- --- PASS GTPBP4 23560 broad.mit.edu 37 10 1053023 1053023 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:1053023G>T uc001ift.2 + 10 1139 c.1068G>T c.(1066-1068)GTG>GTT p.V356V GTPBP4_uc010qac.1_Silent_p.V147V|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.V240V|GTPBP4_uc010qae.1_Silent_p.V309V NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 356 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TGAATGAGGTGCTGAATAGAC 0.502 17 53 --- --- --- --- PASS C10orf140 387640 broad.mit.edu 37 10 21805197 21805197 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:21805197C>G uc009xkd.2 - 4 3808 c.1555G>C c.(1555-1557)GAG>CAG p.E519Q uc001iqp.1_RNA NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 438 nucleus nucleotide binding ovary(1) 1 AGATTCCACTCCGCCGGCGAC 0.612 14 15 --- --- --- --- PASS THNSL1 79896 broad.mit.edu 37 10 25312955 25312955 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:25312955C>A uc001isi.3 + 3 1132 c.803C>A c.(802-804)CCT>CAT p.P268H ENKUR_uc001ish.1_Intron NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 268 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity pancreas(1) 1 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) CTCTTTGTTCCTGCAAAGGAG 0.448 5 43 --- --- --- --- PASS ZNF239 8187 broad.mit.edu 37 10 44053470 44053470 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:44053470C>A uc001jaw.3 - 2 711 c.58G>T c.(58-60)GAT>TAT p.D20Y ZNF239_uc001jax.3_Missense_Mutation_p.D20Y|ZNF239_uc009xmj.2_Missense_Mutation_p.D20Y|ZNF239_uc009xmk.2_Missense_Mutation_p.D20Y NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 GGCTCCCCATCCACTTCCCCT 0.468 10 18 --- --- --- --- PASS OR13A1 79290 broad.mit.edu 37 10 45799862 45799862 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:45799862C>A uc001jcc.1 - 4 318 c.9G>T c.(7-9)CTG>CTT p.L3L OR13A1_uc001jcd.1_5'UTR NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTCCATCCACAGCTTCATGT 0.502 12 41 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55616991 55616991 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:55616991G>A uc001jju.1 - 28 4145 c.3750C>T c.(3748-3750)GTC>GTT p.V1250V PCDH15_uc010qhq.1_Silent_p.V1255V|PCDH15_uc010qhr.1_Silent_p.V1250V|PCDH15_uc010qhs.1_Silent_p.V1262V|PCDH15_uc010qht.1_Silent_p.V1257V|PCDH15_uc010qhu.1_Silent_p.V1250V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.V1250V|PCDH15_uc010qhw.1_Silent_p.V1213V|PCDH15_uc010qhx.1_Silent_p.V1179V|PCDH15_uc010qhy.1_Silent_p.V1255V|PCDH15_uc010qhz.1_Silent_p.V1250V|PCDH15_uc010qia.1_Silent_p.V1228V|PCDH15_uc010qib.1_Silent_p.V1228V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1250 Cadherin 11.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGGAAACAATGACTTGCATAT 0.328 HNSCC(58;0.16) 14 65 --- --- --- --- PASS FAM13C 220965 broad.mit.edu 37 10 61029736 61029736 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:61029736G>T uc001jkn.2 - 8 860 c.726C>A c.(724-726)TCC>TCA p.S242S FAM13C_uc001jko.2_Silent_p.S242S|FAM13C_uc010qid.1_Silent_p.S159S|FAM13C_uc010qie.1_Silent_p.S159S|FAM13C_uc010qif.1_Silent_p.S264S|FAM13C_uc001jkp.2_Silent_p.S159S NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 242 ovary(2) 2 GGCTGAAGATGGAGCATCGTG 0.522 4 27 --- --- --- --- PASS HERC4 26091 broad.mit.edu 37 10 69804216 69804216 + Missense_Mutation SNP C G G rs148764489 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:69804216C>G uc001jng.3 - 4 642 c.331G>C c.(331-333)GAT>CAT p.D111H HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.D111H|HERC4_uc009xpr.2_Missense_Mutation_p.D111H|HERC4_uc001jni.3_Intron|HERC4_uc001jnj.2_Missense_Mutation_p.D111H NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 111 RCC1 3. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 CCATCAGAATCGAGACCCCAA 0.458 8 44 --- --- --- --- PASS TACR2 6865 broad.mit.edu 37 10 71175996 71175996 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:71175996C>A uc001jpn.2 - 1 679 c.84G>T c.(82-84)ATG>ATT p.M28I NM_001057 NP_001048 P21452 NK2R_HUMAN tachykinin receptor 2 28 Extracellular (Potential). excretion|muscle contraction integral to plasma membrane tachykinin receptor activity prostate(1) 1 Clonidine(DB00575)|Octreotide(DB00104) GCCAGCTGGGCATGGAGAAGG 0.597 14 34 --- --- --- --- PASS SGPL1 8879 broad.mit.edu 37 10 72604314 72604314 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:72604314G>C uc001jrm.2 + 3 334 c.112G>C c.(112-114)GAG>CAG p.E38Q NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 38 Lumenal (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) CACCAAGTATGAGCCCTGGCA 0.448 11 22 --- --- --- --- PASS SFTPA2 729238 broad.mit.edu 37 10 81317816 81317816 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:81317816G>T uc001kal.3 - 5 459 c.362C>A c.(361-363)ACA>AAA p.T121K SFTPA2_uc001kan.3_Missense_Mutation_p.T121K NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 121 cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) ACCTCCCCTTGTCTGCAGGAT 0.547 Pulmonary_Fibrosis_Idiopathic 13 104 --- --- --- --- PASS LRIT1 26103 broad.mit.edu 37 10 85992387 85992387 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:85992387C>T uc001kcz.1 - 4 1190 c.1168G>A c.(1168-1170)GCT>ACT p.A390T NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 390 Lumenal (Potential). integral to endoplasmic reticulum membrane 0 GCCAGGACAGCGGGTTTGGGA 0.622 7 4 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 96005734 96005734 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:96005734A>G uc001kjk.2 + 8 3086 c.2452A>G c.(2452-2454)AAT>GAT p.N818D PLCE1_uc010qnx.1_Missense_Mutation_p.N818D|PLCE1_uc001kjm.2_Missense_Mutation_p.N510D NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 818 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GGATTCAGACAATGACATCTT 0.413 23 37 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96609752 96609752 + Missense_Mutation SNP C T T rs17879685 byFrequency TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:96609752C>T uc010qnz.1 + 8 1228 c.1228C>T c.(1228-1230)CGT>TGT p.R410C CYP2C19_uc010qny.1_Missense_Mutation_p.R388C NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 410 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GTTTGACCCTCGTCACTTTCT 0.393 28 101 --- --- --- --- PASS TCTN3 26123 broad.mit.edu 37 10 97440243 97440243 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:97440243A>T uc001klb.3 - 13 1820 c.1576T>A c.(1576-1578)TGC>AGC p.C526S TCTN3_uc001kla.3_Missense_Mutation_p.C370S|TCTN3_uc010qoi.1_Missense_Mutation_p.C378S NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 526 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) ATAGACTGGCACTGGTATAGG 0.423 48 143 --- --- --- --- PASS ABCC2 1244 broad.mit.edu 37 10 101603605 101603605 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:101603605C>T uc001kqf.2 + 27 3930 c.3791C>T c.(3790-3792)ACC>ATC p.T1264I NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1264 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAAATAGAGACCAACATTGTG 0.418 112 199 --- --- --- --- PASS FAM178A 55719 broad.mit.edu 37 10 102676494 102676494 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:102676494G>T uc001krt.3 + 3 894 c.352G>T c.(352-354)GGT>TGT p.G118C FAM178A_uc001krr.1_Missense_Mutation_p.G118C|FAM178A_uc001krs.2_Missense_Mutation_p.G118C|FAM178A_uc001kru.1_Missense_Mutation_p.G54C NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 118 0 TTTCATGAAAGGTGTTAAAGA 0.413 5 52 --- --- --- --- PASS CCDC147 159686 broad.mit.edu 37 10 106160462 106160462 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:106160462G>C uc001kyh.2 + 13 1974 c.1840G>C c.(1840-1842)GGG>CGG p.G614R NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 614 ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGATATCCTGGGGTCTCAGCT 0.478 22 39 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118315626 118315626 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:118315626C>A uc001lcm.2 + 9 969 c.926C>A c.(925-927)ACT>AAT p.T309N NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 309 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AACGTCTTCACTGCAGTAAGT 0.428 20 64 --- --- --- --- PASS PDZD8 118987 broad.mit.edu 37 10 119043185 119043185 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:119043185C>A uc001lde.1 - 5 3258 c.3059G>T c.(3058-3060)GGT>GTT p.G1020V NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 1020 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) CAGATCACGACCAATTTCTTT 0.428 25 69 --- --- --- --- PASS FAM24A 118670 broad.mit.edu 37 10 124671179 124671179 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:124671179A>G uc001lgv.2 + 2 150 c.29A>G c.(28-30)AAG>AGG p.K10R NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 10 extracellular region ovary(2) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CTCAGGACGAAGATCATGATC 0.488 42 117 --- --- --- --- PASS BCCIP 56647 broad.mit.edu 37 10 127529887 127529887 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:127529887A>G uc001ljd.3 + 7 861 c.838A>G c.(838-840)ATA>GTA p.I280V DHX32_uc001lje.1_Intron|DHX32_uc001ljf.1_Intron|DHX32_uc001ljg.1_Intron|BCCIP_uc010qui.1_Missense_Mutation_p.I278V|BCCIP_uc001ljc.3_Missense_Mutation_p.I280V|BCCIP_uc010quj.1_Missense_Mutation_p.I250V NM_016567 NP_057651 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A-interacting protein isoform Error:Variant_position_missing_in_Q9P287_after_alignment cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding ovary(1)|breast(1) 2 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) ACCAGTTCCGATACAGCACAA 0.428 7 27 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129907439 129907439 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:129907439C>T uc001lke.2 - 13 2860 c.2665G>A c.(2665-2667)GTG>ATG p.V889M MKI67_uc001lkf.2_Missense_Mutation_p.V529M|MKI67_uc009yav.1_Missense_Mutation_p.V464M|MKI67_uc009yaw.1_Missense_Mutation_p.V39M NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 889 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTACTTTCCACAGGTAGCTTC 0.403 19 73 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135106682 135106682 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:135106682G>T uc001lmg.1 - 7 1242 c.885C>A c.(883-885)GCC>GCA p.A295A TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.A323A|TUBGCP2_uc009ybk.1_Silent_p.A295A|TUBGCP2_uc010qvd.1_Silent_p.A165A|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 295 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GGGTGCGCATGGCGGCCGCCA 0.567 4 14 --- --- --- --- PASS FRG2B 441581 broad.mit.edu 37 10 135440117 135440117 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr10:135440117C>A uc010qvg.1 - 1 183 c.130G>T c.(130-132)GGC>TGC p.G44C NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 44 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GCGGTCTTGCCTTTTTCTTTG 0.517 8 47 --- --- --- --- PASS OR51T1 401665 broad.mit.edu 37 11 4904106 4904106 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:4904106G>T uc010qyp.1 + 1 1058 c.1058G>T c.(1057-1059)TGG>TTG p.W353L NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 326 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGGGAAGATGGGATTGAAGG 0.463 10 9 --- --- --- --- PASS OR51G2 81282 broad.mit.edu 37 11 4936671 4936671 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:4936671C>A uc001lzr.1 - 1 223 c.223G>T c.(223-225)GAC>TAC p.D75Y NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGACCCAGGTCAATCAGAGCC 0.478 22 19 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969056 5969056 + Silent SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:5969056T>A uc010qzt.1 + 1 480 c.480T>A c.(478-480)ACT>ACA p.T160T NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCTTATGACTCTGCCCATCC 0.448 24 33 --- --- --- --- PASS OR56B4 196335 broad.mit.edu 37 11 6129644 6129644 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:6129644G>T uc010qzx.1 + 1 636 c.636G>T c.(634-636)TTG>TTT p.L212F NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGGTCTTGGTTGGGAGTG 0.473 7 105 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6651379 6651379 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:6651379G>A uc001mem.1 - 10 5056 c.4646C>T c.(4645-4647)CCG>CTG p.P1549L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1549 Cadherin 15.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACGCGTGACGGCGAGGCGAA 0.716 4 5 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33689492 33689492 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:33689492G>A uc001mup.3 + 20 5484 c.5360G>A c.(5359-5361)CGT>CAT p.R1787H NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1781 integral to membrane ovary(2) 2 AGGCTTCCTCGTCAGTACAGC 0.682 11 21 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47843340 47843340 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:47843340C>A uc001ngm.2 - 9 1298 c.1213G>T c.(1213-1215)GAT>TAT p.D405Y NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 405 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 GCCCAGATATCCGTGGAAGTT 0.418 7 44 --- --- --- --- PASS PTPRJ 5795 broad.mit.edu 37 11 48146592 48146592 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:48146592C>T uc001ngp.3 + 6 1302 c.947C>T c.(946-948)CCT>CTT p.P316L PTPRJ_uc001ngo.3_Missense_Mutation_p.P316L NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 316 Extracellular (Potential).|Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 CTCGTGGGACCTGTGGACCCA 0.587 21 43 --- --- --- --- PASS OR4X1 390113 broad.mit.edu 37 11 48285947 48285947 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:48285947G>A uc010rht.1 + 1 535 c.535G>A c.(535-537)GTC>ATC p.V179I NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 CTTCTGTGATGTCCACCCAGT 0.562 14 16 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135842 55135842 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:55135842G>A uc010rif.1 + 1 483 c.483G>A c.(481-483)TTG>TTA p.L161L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 161 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCATGAATTGATCACCATGA 0.418 47 131 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418457 55418457 + Missense_Mutation SNP T G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:55418457T>G uc001nhs.1 + 1 78 c.78T>G c.(76-78)TTT>TTG p.F26L NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) AAGTTTGTTTTGTGGTGTTTT 0.388 7 50 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541730 55541730 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:55541730G>A uc010ril.1 + 1 817 c.817G>A c.(817-819)GTT>ATT p.V273I NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 273 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TAGCCTCATAGTTACAGTGGC 0.408 22 48 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890051 55890051 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:55890051C>A uc001nii.1 + 1 203 c.203C>A c.(202-204)TCA>TAA p.S68* NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) ACTCACCTGTCATTTATTGAC 0.438 8 255 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56954786 56954786 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:56954786G>T uc001njl.1 + 2 1005 c.858G>T c.(856-858)GAG>GAT p.E286D LRRC55_uc001njm.1_5'Flank NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 256 LRRCT. integral to membrane 0 CACTCACTGAGGAGAGCTTCA 0.587 11 47 --- --- --- --- PASS P2RX3 5024 broad.mit.edu 37 11 57135888 57135888 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:57135888C>A uc001nju.2 + 10 1056 c.980C>A c.(979-981)GCG>GAG p.A327E NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 327 Helical; Name=2; (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 AGCTCTGTGGCGGCCTTTACT 0.622 18 78 --- --- --- --- PASS CPSF7 79869 broad.mit.edu 37 11 61183967 61183967 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:61183967C>A uc001nrq.2 - 6 709 c.575G>T c.(574-576)CGA>CTA p.R192L CPSF7_uc001nro.2_Missense_Mutation_p.R183L|CPSF7_uc001nrp.2_Missense_Mutation_p.R235L|CPSF7_uc001nrr.2_Missense_Mutation_p.R183L|CPSF7_uc001nrs.1_Missense_Mutation_p.R93L NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 192 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 ACTAGAATCTCGGGAATGGGC 0.522 5 87 --- --- --- --- PASS SYT7 9066 broad.mit.edu 37 11 61323677 61323677 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:61323677C>G uc001nrv.2 - 2 40 c.34G>C c.(34-36)GCG>CCG p.A12P SYT7_uc009ynr.2_Missense_Mutation_p.A12P|SYT7_uc001nrx.1_RNA NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 12 Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 CGCGAGGGCGCCCCTGGGGAG 0.652 4 9 --- --- --- --- PASS FLRT1 23769 broad.mit.edu 37 11 63885079 63885079 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:63885079C>T uc001nyi.1 + 2 1681 c.1340C>T c.(1339-1341)ACG>ATG p.T447M MACROD1_uc001nyh.2_Intron NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 419 Fibronectin type-III.|Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity 0 AAGGCCCTGACGGCAGACTCC 0.672 5 9 --- --- --- --- PASS PLCB3 5331 broad.mit.edu 37 11 64027528 64027528 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:64027528G>T uc001nzb.2 + 14 1553 c.1553G>T c.(1552-1554)GGC>GTC p.G518V PLCB3_uc009ypg.1_Missense_Mutation_p.G518V|PLCB3_uc009yph.1_Missense_Mutation_p.G451V|PLCB3_uc009ypi.2_Missense_Mutation_p.G518V NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 518 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 AGCTGCCCAGGCCTGAGCAAT 0.617 8 5 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70170596 70170596 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:70170596G>T uc001opo.2 + 3 551 c.353G>T c.(352-354)AGG>ATG p.R118M PPFIA1_uc001opn.1_Missense_Mutation_p.R118M|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 118 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AAAGCAGAAAGGAATAACACC 0.493 16 686 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70172786 70172786 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:70172786G>T uc001opo.2 + 7 990 c.792G>T c.(790-792)AGG>AGT p.R264S PPFIA1_uc001opn.1_Missense_Mutation_p.R264S|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 264 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGCAGTCAAGGGAACAGAGCC 0.438 17 897 --- --- --- --- PASS P4HA3 283208 broad.mit.edu 37 11 73978304 73978304 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:73978304G>T uc001ouz.2 - 13 1667 c.1624C>A c.(1624-1626)CCT>ACT p.P542T P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.A539A NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 542 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity skin(1) 1 Breast(11;2.31e-05) CAGTCTTCAGGGCTGGAGCTG 0.557 9 13 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76207466 76207466 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:76207466C>A uc001oxl.2 + 9 1459 c.1316C>A c.(1315-1317)CCT>CAT p.P439H C11orf30_uc009yuj.1_Missense_Mutation_p.P454H|C11orf30_uc010rsa.1_Missense_Mutation_p.P389H|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Missense_Mutation_p.P454H|C11orf30_uc010rsc.1_Missense_Mutation_p.P454H|C11orf30_uc001oxn.2_Missense_Mutation_p.P440H|C11orf30_uc010rsd.1_Missense_Mutation_p.P453H NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 439 Interaction with BRCA2.|Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 CAGCAGTCTCCTTTGCCACCT 0.428 6 72 --- --- --- --- PASS INTS4 92105 broad.mit.edu 37 11 77705659 77705659 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:77705659C>A uc001oys.2 - 1 59 c.31G>T c.(31-33)GAG>TAG p.E11* INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Nonsense_Mutation_p.E11*|INTS4_uc001oyv.1_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 11 snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) GTGAATTCCTCATAAACCCGC 0.572 4 23 --- --- --- --- PASS SLC36A4 120103 broad.mit.edu 37 11 92881960 92881960 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:92881960C>A uc001pdn.2 - 11 1355 c.1258G>T c.(1258-1260)GGA>TGA p.G420* uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Nonsense_Mutation_p.G285* NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 420 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTCACAGCTCCAACGAAGGAA 0.353 5 58 --- --- --- --- PASS KDM4D 55693 broad.mit.edu 37 11 94731244 94731244 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:94731244G>C uc001pfe.2 + 3 1540 c.708G>C c.(706-708)CGG>CGC p.R236R NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 236 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GCAGTTCCCGGGGTTGTGGGG 0.602 13 16 --- --- --- --- PASS SESN3 143686 broad.mit.edu 37 11 94922999 94922999 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:94922999C>T uc001pfk.1 - 4 691 c.469G>A c.(469-471)GAA>AAA p.E157K SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Missense_Mutation_p.E157K NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 157 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TTATTAATTTCATTAAGATTT 0.353 11 21 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101815132 101815132 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:101815132A>T uc001pgm.2 + 3 655 c.385A>T c.(385-387)AGG>TGG p.R129W KIAA1377_uc001pgn.2_Missense_Mutation_p.R85W|KIAA1377_uc009yxa.1_5'UTR NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 129 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TTCACAGCGGAGGAAAGCAGG 0.343 15 11 --- --- --- --- PASS ATM 472 broad.mit.edu 37 11 108175517 108175517 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:108175517C>T uc001pkb.1 + 37 5997 c.5612C>T c.(5611-5613)ACC>ATC p.T1871I ATM_uc009yxr.1_Missense_Mutation_p.T1871I|ATM_uc001pke.1_Missense_Mutation_p.T523I|ATM_uc001pkg.1_Missense_Mutation_p.T228I|ATM_uc009yxt.1_Silent_p.H14H NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1871 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGATTTTTCACCAGCTGTCTT 0.373 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 12 14 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117310040 117310040 + Silent SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:117310040C>G uc001prh.1 - 23 4268 c.4266G>C c.(4264-4266)ACG>ACC p.T1422T NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1362 Extracellular (Potential).|Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGCCGTGCACGTGTAGTAGC 0.597 10 30 --- --- --- --- PASS HINFP 25988 broad.mit.edu 37 11 119001518 119001518 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:119001518C>A uc001pvp.2 + 4 454 c.265C>A c.(265-267)CAC>AAC p.H89N HINFP_uc010rzb.1_Missense_Mutation_p.H89N|HINFP_uc001pvq.2_Missense_Mutation_p.H89N|HINFP_uc001pvr.2_5'Flank NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 89 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TGTCTACTTCCACTGCTACCA 0.542 5 56 --- --- --- --- PASS GRAMD1B 57476 broad.mit.edu 37 11 123464819 123464819 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:123464819T>A uc001pyx.2 + 4 614 c.285T>A c.(283-285)AAT>AAA p.N95K GRAMD1B_uc001pyw.2_Missense_Mutation_p.N102K|GRAMD1B_uc010rzw.1_Missense_Mutation_p.N55K|GRAMD1B_uc010rzx.1_Missense_Mutation_p.N55K|GRAMD1B_uc009zbe.1_Missense_Mutation_p.N91K NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 95 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) AGCAGAGAAATGAAGACTTCA 0.527 22 24 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810687 123810687 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:123810687C>A uc001pzk.1 + 1 364 c.364C>A c.(364-366)CGC>AGC p.R122S NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGCGTATGACCGCTACATTGC 0.517 24 23 --- --- --- --- PASS FAM118B 79607 broad.mit.edu 37 11 126126696 126126696 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr11:126126696C>A uc001qdf.2 + 7 1114 c.931C>A c.(931-933)CCA>ACA p.P311T FAM118B_uc009zca.2_Missense_Mutation_p.P315T|FAM118B_uc001qdg.2_Missense_Mutation_p.P311T NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 311 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TGCCGATCTTCCAGAATATTT 0.448 103 108 --- --- --- --- PASS RAD52 5893 broad.mit.edu 37 12 1039000 1039000 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:1039000C>A uc001qis.1 - 5 447 c.333G>T c.(331-333)GTG>GTT p.V111V RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.V34V|RAD52_uc001qiu.1_Silent_p.V111V|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.V111V|RAD52_uc001qix.1_Silent_p.V111V NM_134424 NP_602296 P43351 RAD52_HUMAN RAD52 homolog 111 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GCTGGACCCTCACAAATGCAC 0.542 Homologous_recombination 8 253 --- --- --- --- PASS DCP1B 196513 broad.mit.edu 37 12 2058392 2058392 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:2058392G>A uc001qjx.1 - 8 1713 c.1633C>T c.(1633-1635)CTC>TTC p.L545F DCP1B_uc010sdy.1_Missense_Mutation_p.L443F NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 545 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) ACAGGCAAGAGGCCGCTCTCC 0.647 6 15 --- --- --- --- PASS NANOG 79923 broad.mit.edu 37 12 7942325 7942325 + Nonsense_Mutation SNP C T T rs140243232 byFrequency TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:7942325C>T uc009zfy.1 + 1 331 c.115C>T c.(115-117)CAA>TAA p.Q39* NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 39 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) TCCATCCTTGCAAATGTCTTC 0.453 19 114 --- --- --- --- PASS SLC2A3 6515 broad.mit.edu 37 12 8082312 8082312 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:8082312G>T uc001qtr.2 - 6 1091 c.829C>A c.(829-831)CAG>AAG p.Q277K SLC2A3_uc001qts.2_3'UTR NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 277 Defines substrate specificity (By similarity).|Helical; Name=7; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TGAGAGAGCTGGAGCACAATG 0.413 4 28 --- --- --- --- PASS DUSP16 80824 broad.mit.edu 37 12 12630882 12630882 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:12630882C>T uc001rao.1 - 7 1515 c.883G>A c.(883-885)GAG>AAG p.E295K DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.E147K NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 295 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) ATCTTCTTCTCATAGTCCAGG 0.438 26 99 --- --- --- --- PASS PDE6H 5149 broad.mit.edu 37 12 15132142 15132142 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:15132142G>T uc001rcr.2 + 3 248 c.164G>T c.(163-165)GGG>GTG p.G55V NM_006205 NP_006196 Q13956 CNCG_HUMAN phosphodiesterase 6H 55 visual perception 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity ovary(1)|skin(1) 2 GGAATGGAGGGGCTAGGAACA 0.413 10 21 --- --- --- --- PASS STRAP 11171 broad.mit.edu 37 12 16047010 16047010 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:16047010G>T uc001rdc.3 + 5 787 c.433G>T c.(433-435)GGT>TGT p.G145C STRAP_uc010shw.1_Missense_Mutation_p.G158C|STRAP_uc001rdd.3_Missense_Mutation_p.G51C NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 145 WD 4. mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) TCATACTTCTGGTATAAAAAA 0.279 5 86 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19413942 19413942 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:19413942C>A uc001reb.2 + 7 683 c.597C>A c.(595-597)CTC>CTA p.L199L PLEKHA5_uc010sie.1_Silent_p.L199L|PLEKHA5_uc001rea.2_Silent_p.L199L|PLEKHA5_uc009zin.2_Intron|PLEKHA5_uc010sif.1_Silent_p.L91L|PLEKHA5_uc010sig.1_Silent_p.L91L|PLEKHA5_uc010sih.1_Silent_p.L91L NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 199 PH. 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ACCTTTGCCTCTTTTATTATA 0.303 7 192 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32138194 32138194 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:32138194G>T uc001rks.2 + 4 4719 c.4305G>T c.(4303-4305)GCG>GCT p.A1435A C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1435 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) ACACGAAAGCGAGTTCATCTA 0.353 5 120 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40692163 40692163 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:40692163C>A uc001rmg.3 + 24 3336 c.3215C>A c.(3214-3216)CCC>CAC p.P1072H LRRK2_uc001rmh.1_Missense_Mutation_p.P694H|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1072 LRR 4. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GACATTGGACCCTCAGTGGTT 0.368 9 45 --- --- --- --- PASS TMEM117 84216 broad.mit.edu 37 12 44338016 44338016 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:44338016A>T uc001rod.2 + 3 347 c.281A>T c.(280-282)CAG>CTG p.Q94L TMEM117_uc001roe.2_Silent_p.S23S|TMEM117_uc009zkc.2_Missense_Mutation_p.Q94L NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 94 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) ATTTCAGGTCAGTTGCTCCGA 0.299 16 21 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46320689 46320689 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:46320689C>A uc001rox.2 - 11 3082 c.2795G>T c.(2794-2796)TGG>TTG p.W932L SFRS2IP_uc001row.2_Missense_Mutation_p.W617L|SFRS2IP_uc001roy.1_Missense_Mutation_p.W1006L NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 932 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) GGACCTAGACCACTTTCTGGT 0.453 6 92 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46321720 46321720 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:46321720G>T uc001rox.2 - 11 2051 c.1764C>A c.(1762-1764)TCC>TCA p.S588S SFRS2IP_uc001row.2_Silent_p.S273S|SFRS2IP_uc001roy.1_Silent_p.S662S NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 588 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TTTCTACTAGGGAACTCTCTG 0.368 6 65 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49442950 49442950 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:49442950C>A uc001rta.3 - 12 3958 c.3958G>T c.(3958-3960)GGA>TGA p.G1320* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1320 Arg-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCACGTCCTCCATGGGCTCCT 0.572 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 8 7 --- --- --- --- PASS ESPL1 9700 broad.mit.edu 37 12 53662832 53662832 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:53662832G>T uc001sck.2 + 3 197 c.106G>T c.(106-108)GGT>TGT p.G36C ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 36 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CCCTCCAGCTGGTTTTCCCAG 0.502 4 23 --- --- --- --- PASS OR6C65 403282 broad.mit.edu 37 12 55794584 55794584 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:55794584C>T uc010spl.1 + 1 272 c.272C>T c.(271-273)TCC>TTC p.S91F NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACAACCATTTCCTATAATGCT 0.353 21 32 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78444760 78444760 + Silent SNP G C C rs35997153 by1000genomes TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:78444760G>C uc001syp.2 + 11 2522 c.2349G>C c.(2347-2349)ACG>ACC p.T783T NAV3_uc001syo.2_Silent_p.T783T|NAV3_uc010sub.1_Silent_p.T283T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 783 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGTATACCACGCCTCTCCGTC 0.552 HNSCC(70;0.22) 5 19 --- --- --- --- PASS PLEKHG7 440107 broad.mit.edu 37 12 93147929 93147929 + Nonsense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:93147929C>T uc001tcj.2 + 6 609 c.379C>T c.(379-381)CAG>TAG p.Q127* NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 127 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 GGCCCCACTACAGAGGCTCAC 0.493 19 30 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100806558 100806558 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:100806558G>T uc010svi.1 + 10 1510 c.1197G>T c.(1195-1197)ATG>ATT p.M399I SLC17A8_uc009ztx.2_Missense_Mutation_p.M349I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 399 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 GTTTTGGCATGGAGGCAACCT 0.408 5 67 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101488070 101488070 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:101488070G>T uc010svm.1 + 18 2310 c.1738G>T c.(1738-1740)GAA>TAA p.E580* ANO4_uc001thw.2_Nonsense_Mutation_p.E545*|ANO4_uc001thx.2_Nonsense_Mutation_p.E580*|ANO4_uc001thy.2_Nonsense_Mutation_p.E100* NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 580 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GACGAATTTAGGTGAGTGGAA 0.338 HNSCC(74;0.22) 6 38 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101685795 101685795 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:101685795G>T uc001tia.1 + 10 1242 c.1086G>T c.(1084-1086)TGG>TGT p.W362C NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 362 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 CATCTTGCTGGGAGACCCTCT 0.393 7 141 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101763508 101763508 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:101763508G>T uc001tia.1 + 49 6550 c.6394G>T c.(6394-6396)GGT>TGT p.G2132C NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2132 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 GGTGATCACAGGTGCTTTACA 0.448 6 74 --- --- --- --- PASS RFX4 5992 broad.mit.edu 37 12 107103163 107103163 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:107103163G>A uc001tlr.2 + 9 955 c.889G>A c.(889-891)GCT>ACT p.A297T RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Missense_Mutation_p.A306T|RFX4_uc001tlt.2_Missense_Mutation_p.A306T|RFX4_uc001tlv.2_Missense_Mutation_p.A203T NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 297 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 GCTAAAAGTGGCTCTCCACGA 0.418 8 35 --- --- --- --- PASS WSCD2 9671 broad.mit.edu 37 12 108589946 108589946 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:108589946C>G uc001tms.2 + 2 1081 c.337C>G c.(337-339)CGA>GGA p.R113G WSCD2_uc001tmt.2_Missense_Mutation_p.R113G NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 113 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 AGCCTGGAGCCGAGCCCTCAA 0.597 8 28 --- --- --- --- PASS SSH1 54434 broad.mit.edu 37 12 109210857 109210857 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:109210857C>A uc001tnm.2 - 5 445 c.358G>T c.(358-360)GAG>TAG p.E120* SSH1_uc010sxg.1_Nonsense_Mutation_p.E131*|SSH1_uc001tnn.3_Nonsense_Mutation_p.E120*|SSH1_uc001tno.1_Nonsense_Mutation_p.E47* NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 120 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 ATATTCTCCTCGGTGTCCTGG 0.602 6 106 --- --- --- --- PASS UBE3B 89910 broad.mit.edu 37 12 109962291 109962291 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:109962291G>T uc001top.2 + 23 3154 c.2551G>T c.(2551-2553)GAG>TAG p.E851* UBE3B_uc001toq.2_Nonsense_Mutation_p.E851*|UBE3B_uc001tos.2_Nonsense_Mutation_p.E278*|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Nonsense_Mutation_p.E851* NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 851 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 GTCTTACGACGAGGACGTCAT 0.547 17 20 --- --- --- --- PASS PXN 5829 broad.mit.edu 37 12 120653417 120653417 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:120653417G>A uc001txt.2 - 7 1010 c.879C>T c.(877-879)GCC>GCT p.A293A PXN_uc001txu.2_Silent_p.A57A|PXN_uc001txv.2_Intron|PXN_uc001txx.2_Intron|PXN_uc001txy.2_Intron|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 293 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAGGCCAGCCGGCCGCCCAGC 0.622 9 13 --- --- --- --- PASS P2RX7 5027 broad.mit.edu 37 12 121615214 121615214 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:121615214A>T uc001tzm.2 + 11 1249 c.1153A>T c.(1153-1155)AGG>TGG p.R385W P2RX7_uc001tzn.2_Missense_Mutation_p.R295W|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Missense_Mutation_p.R96W|P2RX7_uc001tzq.2_Missense_Mutation_p.R215W NM_002562 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X7 385 integral to membrane ATP binding|ion channel activity|receptor activity large_intestine(2)|lung(1)|breast(1)|skin(1) 5 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATACTACTACAGGAAGAAGTG 0.507 22 22 --- --- --- --- PASS WDR66 144406 broad.mit.edu 37 12 122437833 122437833 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr12:122437833G>C uc009zxk.2 + 20 3360 c.3218G>C c.(3217-3219)AGA>ACA p.R1073T NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1073 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) GACTTCCTGAGACTGCTCGTT 0.498 12 49 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 29008091 29008091 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr13:29008091G>C uc001usb.3 - 6 963 c.678C>G c.(676-678)ACC>ACG p.T226T FLT1_uc010aar.1_Silent_p.T226T|FLT1_uc001usc.3_Silent_p.T226T|FLT1_uc010tdp.1_Silent_p.T226T NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 226 Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGATTGTATTGGCTGCAAGCA 0.378 25 36 --- --- --- --- PASS FAM48A 55578 broad.mit.edu 37 13 37593482 37593482 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr13:37593482G>T uc001uwg.2 - 22 2117 c.1869C>A c.(1867-1869)CTC>CTA p.L623L FAM48A_uc010abt.2_Silent_p.L624L|FAM48A_uc001uwh.2_Silent_p.L624L|FAM48A_uc001uwi.2_Silent_p.L623L|FAM48A_uc001uwj.2_Silent_p.L624L|FAM48A_uc001uwk.2_Silent_p.L702L|FAM48A_uc001uwd.2_Silent_p.L110L|FAM48A_uc001uwe.2_Silent_p.L107L|FAM48A_uc001uwf.2_Silent_p.L201L NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 623 autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) GGTTTACCTGGAGTAGATTTA 0.294 5 38 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53419021 53419021 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr13:53419021G>A uc001vhi.2 - 3 3090 c.2887C>T c.(2887-2889)CGC>TGC p.R963C PCDH8_uc001vhj.2_Missense_Mutation_p.R866C NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 963 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTCCAGCAGCGGTCAGAGTGG 0.557 7 14 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61987742 61987742 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr13:61987742C>T uc001vid.3 - 2 854 c.490G>A c.(490-492)GGC>AGC p.G164S PCDH20_uc010thj.1_Missense_Mutation_p.G164S NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 137 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GAAACGCTGCCGCTCCACGCA 0.562 18 13 --- --- --- --- PASS KLF5 688 broad.mit.edu 37 13 73636323 73636323 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr13:73636323C>A uc001vje.2 + 2 910 c.586C>A c.(586-588)CAC>AAC p.H196N KLF5_uc001vjd.2_Missense_Mutation_p.H105N NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 196 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) ATTCAGCTCACACCAGACCGC 0.532 18 25 --- --- --- --- PASS HS6ST3 266722 broad.mit.edu 37 13 97485376 97485376 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr13:97485376A>T uc001vmw.2 + 2 1364 c.1340A>T c.(1339-1341)CAC>CTC p.H447L NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 447 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) CACAGGGACCACCAGTGGCCC 0.632 9 9 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19553744 19553744 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:19553744A>T uc001vuz.1 + 1 380 c.328A>T c.(328-330)AGG>TGG p.R110W POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 110 ovary(1) 1 CCCCTGCTGCAGGGGGAGCGG 0.592 17 188 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20295680 20295680 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:20295680C>A uc010tkv.1 + 1 73 c.73C>A c.(73-75)CTC>ATC p.L25I NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L25L(1) ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGATATTCAGCTCCTGGTCTT 0.438 39 94 --- --- --- --- PASS RNASE4 6038 broad.mit.edu 37 14 21167824 21167824 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:21167824C>A uc001vxy.3 + 2 857 c.294C>A c.(292-294)AAC>AAA p.N98K RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.N98K NM_002937 NP_002928 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 precursor 98 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1) 1 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) GCAAGATGAACTGCCATGAGG 0.498 16 62 --- --- --- --- PASS TGM1 7051 broad.mit.edu 37 14 24731311 24731311 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:24731311C>A uc001wod.2 - 2 372 c.248G>T c.(247-249)CGG>CTG p.R83L TGM1_uc010tog.1_Intron NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 83 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) GTCTGAGCCCCGGGAGCCAGG 0.647 13 14 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975152 44975152 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:44975152G>T uc001wvn.2 - 1 1348 c.1039C>A c.(1039-1041)CTG>ATG p.L347M NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 347 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) ATTTCAGCCAGAAGCTCTACA 0.502 39 64 --- --- --- --- PASS FRMD6 122786 broad.mit.edu 37 14 52171516 52171516 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:52171516C>G uc001wzd.2 + 6 706 c.421C>G c.(421-423)CTT>GTT p.L141V FRMD6_uc001wzb.2_Missense_Mutation_p.L133V|FRMD6_uc001wzc.2_Missense_Mutation_p.L133V|FRMD6_uc001wze.2_Missense_Mutation_p.L64V NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 141 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) AAAACAAGTTCTTCATTCTCA 0.428 10 42 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58796253 58796253 + Missense_Mutation SNP A G G rs138296226 byFrequency TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:58796253A>G uc001xdp.2 + 10 924 c.670A>G c.(670-672)ATA>GTA p.I224V ARID4A_uc001xdo.2_Missense_Mutation_p.I224V|ARID4A_uc001xdq.2_Missense_Mutation_p.I224V|ARID4A_uc010apg.1_5'Flank NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 224 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 TAGTTACTCTATAGCAAGAAA 0.299 14 26 --- --- --- --- PASS TOMM20L 387990 broad.mit.edu 37 14 58869446 58869446 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:58869446G>T uc001xdr.1 + 3 261 c.229G>T c.(229-231)GAG>TAG p.E77* TOMM20L_uc010trq.1_Intron NM_207377 NP_997260 Q6UXN7 TO20L_HUMAN translocase of outer mitochondrial membrane 20 77 Cytoplasmic (Potential). protein targeting integral to membrane|mitochondrial outer membrane translocase complex 0 TTTCTTGCAAGAGGTACGGAT 0.313 6 98 --- --- --- --- PASS RAB15 376267 broad.mit.edu 37 14 65417054 65417054 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:65417054G>T uc001xhz.2 - 5 615 c.534C>A c.(532-534)AGC>AGA p.S178R FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA NM_198686 NP_941959 P59190 RAB15_HUMAN RAB15, member RAS onocogene family Error:Variant_position_missing_in_P59190_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1) 1 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) TGCTGCCCTTGCTCTCTTCCC 0.587 67 104 --- --- --- --- PASS ADAM20 8748 broad.mit.edu 37 14 70989667 70989667 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:70989667G>T uc001xme.2 - 2 2203 c.1958C>A c.(1957-1959)CCT>CAT p.P653H NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 603 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ACCAATATCAGGTATAGCCAT 0.458 6 103 --- --- --- --- PASS TTLL5 23093 broad.mit.edu 37 14 76232418 76232418 + Silent SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:76232418A>G uc001xrx.2 + 20 1927 c.1722A>G c.(1720-1722)CCA>CCG p.P574P TTLL5_uc010ask.1_Silent_p.P588P|TTLL5_uc001xrz.2_Silent_p.P149P|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 574 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) TTACCCAACCAGCTGAAATGA 0.388 15 35 --- --- --- --- PASS ASB2 51676 broad.mit.edu 37 14 94419793 94419793 + Missense_Mutation SNP G C C rs113529772 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:94419793G>C uc001ycc.1 - 3 884 c.395C>G c.(394-396)ACG>AGG p.T132R ASB2_uc001ycd.2_Missense_Mutation_p.T180R|ASB2_uc001yce.1_Missense_Mutation_p.T78R NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 132 ANK 3. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCCCCTGCACGTTGCCAAGTA 0.587 6 24 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95570126 95570126 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:95570126T>A uc001ydw.2 - 22 3789 c.3607A>T c.(3607-3609)AAT>TAT p.N1203Y DICER1_uc010avh.1_Missense_Mutation_p.N101Y|DICER1_uc001ydv.2_Missense_Mutation_p.N1193Y|DICER1_uc001ydx.2_Missense_Mutation_p.N1203Y|DICER1_uc001ydy.1_Missense_Mutation_p.N55Y NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1203 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTGTAGTAATTTAGCTGATTT 0.403 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 28 54 --- --- --- --- PASS MIR329-1 574408 broad.mit.edu 37 14 101493134 101493134 + RNA SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:101493134G>T hsa-mir-329-1|MI0001725 + c.13G>T MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank 0 TACCTGAAGAGAGGTTTTCTG 0.443 20 36 --- --- --- --- PASS SIVA1 10572 broad.mit.edu 37 14 105222016 105222016 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:105222016C>G uc001yph.2 + 2 237 c.168C>G c.(166-168)CAC>CAG p.H56Q INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Missense_Mutation_p.H56Q|SIVA1_uc001ypg.1_Missense_Mutation_p.H56Q|SIVA1_uc001ypi.2_Intron NM_006427 NP_006418 O15304 SIVA_HUMAN CD27-binding (Siva) protein isoform 1 56 activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding 0 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) ACCTGGACCACGTGTGGGATG 0.607 8 15 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105413877 105413877 + Silent SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr14:105413877G>C uc010axc.1 - 7 8031 c.7911C>G c.(7909-7911)GCC>GCG p.A2637A AHNAK2_uc001ypx.2_Silent_p.A2537A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2637 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CACCCTTGTCGGCCAGGGACA 0.607 28 171 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931540 23931540 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:23931540G>T uc001ywk.2 - 1 911 c.825C>A c.(823-825)ATC>ATA p.I275I NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 275 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGAACTCCATGATTTGCATCT 0.582 Prader-Willi_syndrome 6 11 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25925069 25925069 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:25925069C>A uc010ayu.2 - 21 4025 c.3919G>T c.(3919-3921)GCA>TCA p.A1307S NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1307 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AACTGACGTGCCAGCTGAAGT 0.507 32 30 --- --- --- --- PASS FSIP1 161835 broad.mit.edu 37 15 39910398 39910398 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:39910398C>A uc001zki.2 - 11 1455 c.1237G>T c.(1237-1239)GAT>TAT p.D413Y NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 413 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) ATGCATTCATCCAGAAGACAC 0.368 20 22 --- --- --- --- PASS CHP 11261 broad.mit.edu 37 15 41570972 41570972 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:41570972G>T uc001znl.2 + 6 563 c.419G>T c.(418-420)CGC>CTC p.R140L CHP_uc010bcd.1_5'Flank NM_007236 NP_009167 Q99653 CHP1_HUMAN calcium binding protein P22 140 EF-hand 3. potassium ion transport|small GTPase mediated signal transduction potassium channel regulator activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143) GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169) CAGGTGCTACGCATGATGGTC 0.478 16 11 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41862286 41862286 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:41862286G>A uc001zof.1 + 10 1538 c.1314G>A c.(1312-1314)ACG>ACA p.T438T NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 438 Helical; (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTGTGCTAACGGCCCTGGTGA 0.627 16 5 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42702687 42702687 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:42702687C>T uc001zpn.1 + 20 2483 c.2177C>T c.(2176-2178)GCC>GTC p.A726V CAPN3_uc001zpk.1_Missense_Mutation_p.A493V|CAPN3_uc001zpl.1_Missense_Mutation_p.A633V|CAPN3_uc010udf.1_Missense_Mutation_p.A639V|CAPN3_uc010udg.1_Missense_Mutation_p.A591V|CAPN3_uc001zpo.1_Missense_Mutation_p.A720V|CAPN3_uc001zpp.1_Missense_Mutation_p.A634V|CAPN3_uc001zpq.1_Missense_Mutation_p.A214V|CAPN3_uc010bcv.1_Missense_Mutation_p.A61V|CAPN3_uc001zpr.1_Missense_Mutation_p.A61V|CAPN3_uc001zps.1_Missense_Mutation_p.A61V|CAPN3_uc001zpt.1_Missense_Mutation_p.A61V NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 726 EF-hand 3.|Domain IV. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AAGATTAAGGCCTGGCAGGTG 0.502 18 26 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49064722 49064722 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:49064722G>T uc001zwy.2 - 13 1778 c.1744C>A c.(1744-1746)CAC>AAC p.H582N CEP152_uc001zwz.2_Missense_Mutation_p.H582N|CEP152_uc001zxa.1_Missense_Mutation_p.H489N NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 582 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTCACTTGGTGGAGATCTTCA 0.363 5 68 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50152498 50152498 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:50152498C>T uc001zxu.2 - 28 3614 c.3472G>A c.(3472-3474)GGG>AGG p.G1158R ATP8B4_uc010ber.2_Missense_Mutation_p.G1031R|ATP8B4_uc010ufd.1_Missense_Mutation_p.G968R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.G161R NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1158 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTTTCCAGCCCTGATGTTGGG 0.418 30 23 --- --- --- --- PASS RORA 6095 broad.mit.edu 37 15 60919479 60919479 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:60919479C>G uc002agv.2 - 1 251 c.95G>C c.(94-96)AGA>ACA p.R32T RORA_uc002agw.2_Missense_Mutation_p.R32T|RORA_uc002agx.2_Intron NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 32 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding large_intestine(1)|ovary(1) 2 GGCAGACATTCTGGCCTGTCC 0.373 11 16 --- --- --- --- PASS SPESP1 246777 broad.mit.edu 37 15 69238616 69238616 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:69238616C>A uc002arn.1 + 2 871 c.743C>A c.(742-744)CCA>CAA p.P248Q NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 248 multicellular organismal development acrosomal vesicle 0 ACCAGCAACCCAGCATATAGA 0.373 24 34 --- --- --- --- PASS NEIL1 79661 broad.mit.edu 37 15 75644693 75644693 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:75644693C>T uc002bad.2 + 4 1089 c.583C>T c.(583-585)CGC>TGC p.R195C NEIL1_uc002bae.2_Missense_Mutation_p.R281C NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 195 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding ovary(1) 1 TGAGAAGGCCCGCTCGGTCCT 0.657 BER_DNA_glycosylases 9 13 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85400738 85400738 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:85400738C>G uc002ble.2 + 6 3542 c.3375C>G c.(3373-3375)CAC>CAG p.H1125Q NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1125 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCAGAGTCACCCACCAGAAA 0.662 8 17 --- --- --- --- PASS PRC1 9055 broad.mit.edu 37 15 91528042 91528042 + Nonsense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr15:91528042C>A uc002bqm.2 - 2 182 c.25G>T c.(25-27)GAG>TAG p.E9* PRC1_uc002bqn.2_Nonsense_Mutation_p.E9*|PRC1_uc002bqo.2_Nonsense_Mutation_p.E9*|PRC1_uc010uqs.1_Nonsense_Mutation_p.E9*|PRC1_uc010uqt.1_Intron NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 9 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) ATGGACTCCTCCGCCAGCACC 0.453 34 58 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1250520 1250520 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:1250520C>T uc002cks.2 + 7 1316 c.1068C>T c.(1066-1068)AAC>AAT p.N356N CACNA1H_uc002ckt.2_Silent_p.N356N NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 356 Extracellular (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ACCCCCACAACGGTGCCATCA 0.657 10 30 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2331210 2331210 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:2331210G>T uc002cpy.1 - 28 4889 c.4177C>A c.(4177-4179)CGG>AGG p.R1393R ABCA3_uc010bsk.1_Silent_p.R1335R NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1393 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) AGGGGCACCCGCTGCTCGTAC 0.632 17 11 --- --- --- --- PASS NDUFAB1 4706 broad.mit.edu 37 16 23607476 23607476 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:23607476C>G uc002dlw.2 - 1 164 c.136G>C c.(136-138)GGG>CGG p.G46R NM_005003 NP_004994 O14561 ACPM_HUMAN NADH dehydrogenase (ubiquinone) 1, alpha/beta 46 fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone mitochondrial matrix|mitochondrial respiratory chain complex I acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding 0 GBM - Glioblastoma multiforme(48;0.0339) NADH(DB00157) TGCAAAGTCCCGAGCCTCGTC 0.726 3 10 --- --- --- --- PASS GSG1L 146395 broad.mit.edu 37 16 27818807 27818807 + Splice_Site SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:27818807C>T uc002doz.2 - 6 983 c.898_splice c.e6+1 p.R300_splice GSG1L_uc010bya.1_Splice_Site_p.R249_splice|GSG1L_uc010bxz.1_Splice_Site_p.R163_splice|GSG1L_uc002doy.2_Splice_Site_p.R145_splice NM_001109763 NP_001103233 Q6UXU4 GSG1L_HUMAN GSG1-like isoform 1 integral to membrane ovary(1) 1 AGGCCACTTACGGGCAGGGTA 0.532 4 19 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50744691 50744691 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:50744691A>T uc002egm.1 + 4 974 c.869A>T c.(868-870)GAC>GTC p.D290V NOD2_uc010cbk.1_Missense_Mutation_p.D263V|NOD2_uc002egl.1_Missense_Mutation_p.D68V|NOD2_uc010cbl.1_Missense_Mutation_p.D68V|NOD2_uc010cbm.1_Missense_Mutation_p.D68V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 290 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CACCTCAATGACGATGCGGAC 0.662 7 9 --- --- --- --- PASS C16orf57 79650 broad.mit.edu 37 16 58036523 58036523 + Missense_Mutation SNP A G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:58036523A>G uc002emz.2 + 2 322 c.239A>G c.(238-240)AAC>AGC p.N80S ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.N80S|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.N80S|C16orf57_uc010vic.1_Missense_Mutation_p.N29S NM_024598 NP_078874 Q9BQ65 CP057_HUMAN hypothetical protein LOC79650 80 0 GAGCGAGGCAACTGGGCCACC 0.592 8 11 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71487152 71487152 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:71487152G>T uc002faf.2 - 5 950 c.136C>A c.(136-138)CAG>AAG p.Q46K ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_Intron|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Missense_Mutation_p.Q46K|ZNF23_uc002fai.2_Missense_Mutation_p.Q84K NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TTACCAGTCTGGAGGCCCTGG 0.488 4 8 --- --- --- --- PASS CDYL2 124359 broad.mit.edu 37 16 80718954 80718954 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr16:80718954C>G uc002ffs.2 - 2 202 c.97G>C c.(97-99)GGG>CGG p.G33R NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 33 Chromo. nucleus catalytic activity|protein binding central_nervous_system(1) 1 TCGGTGCTCCCGTAGCCTTTC 0.478 34 21 --- --- --- --- PASS POLR2A 5430 broad.mit.edu 37 17 7415644 7415644 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:7415644C>T uc002ghf.3 + 26 4707 c.4473C>T c.(4471-4473)CCC>CCT p.P1491P NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1491 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CCAATATCCCCGGCCTGGGGG 0.652 11 6 --- --- --- --- PASS SLC25A35 399512 broad.mit.edu 37 17 8193298 8193298 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:8193298C>A uc002gku.1 - 5 779 c.734G>T c.(733-735)CGA>CTA p.R245L SLC25A35_uc002gkt.2_Missense_Mutation_p.R245L|RANGRF_uc002gkv.2_3'UTR|RANGRF_uc002gkw.2_3'UTR|RANGRF_uc002gky.2_3'UTR|RANGRF_uc002gkx.2_3'UTR|SLC25A35_uc002gkz.1_RNA NM_201520 NP_958928 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 Error:Variant_position_missing_in_Q3KQZ1_after_alignment transport integral to membrane|mitochondrial inner membrane 0 CTTGGGGACTCGGTTCTGTGA 0.468 5 135 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10215277 10215277 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:10215277C>T uc002gmk.1 - 32 4572 c.4482G>A c.(4480-4482)GAG>GAA p.E1494E NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1494 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GGTCCACCACCTCCTCATAGG 0.532 9 42 --- --- --- --- PASS ZNF624 57547 broad.mit.edu 37 17 16526040 16526040 + Silent SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:16526040T>C uc010cpi.1 - 6 2243 c.2160A>G c.(2158-2160)GGA>GGG p.G720G NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 720 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATGGTTTCTCTCCAGTATGTG 0.388 34 23 --- --- --- --- PASS EVI2B 2124 broad.mit.edu 37 17 29632186 29632186 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:29632186G>T uc002hgk.2 - 2 597 c.442C>A c.(442-444)CAA>AAA p.Q148K NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.Q163K NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 148 Extracellular (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GATGATTGTTGAGTAAAAGTA 0.433 6 131 --- --- --- --- PASS KRTAP3-1 83896 broad.mit.edu 37 17 39165091 39165091 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:39165091C>G uc002hvt.1 - 1 276 c.236G>C c.(235-237)GGG>GCG p.G79A NM_031958 NP_114164 Q9BYR8 KRA31_HUMAN keratin associated protein 3.1 79 keratin filament structural molecule activity 0 Breast(137;0.00043) CAGGTTGATCCCACTCAGTCC 0.597 3 7 --- --- --- --- PASS KRTAP4-5 85289 broad.mit.edu 37 17 39305582 39305582 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:39305582G>T uc002hwb.2 - 1 473 c.438C>A c.(436-438)TGC>TGA p.C146* NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 151 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|27. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CTGGACGCACgcagcagcagg 0.378 3 9 --- --- --- --- PASS CDC27 996 broad.mit.edu 37 17 45219285 45219285 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:45219285G>C uc002ild.3 - 12 1612 c.1485C>G c.(1483-1485)CAC>CAG p.H495Q CDC27_uc002ile.3_Missense_Mutation_p.H501Q|CDC27_uc002ilf.3_Missense_Mutation_p.H494Q|CDC27_uc010wkp.1_Missense_Mutation_p.H434Q|CDC27_uc010wkq.1_Intron NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 495 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 CAGTATTGTAGTGGTGAGAAG 0.373 7 188 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48704077 48704077 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:48704077G>A uc002irk.1 + 38 7471 c.7099G>A c.(7099-7101)GGT>AGT p.G2367S CACNA1G_uc002irj.1_Missense_Mutation_p.G2161S|CACNA1G_uc002irl.1_Missense_Mutation_p.G2251S|CACNA1G_uc002irm.1_Missense_Mutation_p.G2288S|CACNA1G_uc002irn.1_Missense_Mutation_p.G2233S|CACNA1G_uc002iro.1_Missense_Mutation_p.G2240S|CACNA1G_uc002irp.1_Missense_Mutation_p.G2322S|CACNA1G_uc002irq.1_Missense_Mutation_p.G2344S|CACNA1G_uc002irr.1_Missense_Mutation_p.G2274S|CACNA1G_uc002irs.1_Missense_Mutation_p.G2311S|CACNA1G_uc002irt.1_Missense_Mutation_p.G2256S|CACNA1G_uc002irv.1_Missense_Mutation_p.G2263S|CACNA1G_uc002irw.1_Missense_Mutation_p.G2296S|CACNA1G_uc002iru.1_Missense_Mutation_p.G2333S|CACNA1G_uc002irx.1_Missense_Mutation_p.G2108S|CACNA1G_uc002iry.1_Missense_Mutation_p.G2097S|CACNA1G_uc002irz.1_Missense_Mutation_p.G2180S|CACNA1G_uc002isa.1_Missense_Mutation_p.G2153S|CACNA1G_uc002isb.1_Missense_Mutation_p.G2194S|CACNA1G_uc002isc.1_Missense_Mutation_p.G2269S|CACNA1G_uc002isd.1_Missense_Mutation_p.G2162S|CACNA1G_uc002ise.1_Missense_Mutation_p.G2190S|CACNA1G_uc002isf.1_Missense_Mutation_p.G2217S|CACNA1G_uc002isg.1_Missense_Mutation_p.G2135S|CACNA1G_uc002ish.1_Missense_Mutation_p.G2142S|CACNA1G_uc002isi.1_Missense_Mutation_p.G2130S NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 2367 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAGTCTCTCCGGTTTATCCTC 0.622 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 99 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54451996 54451996 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:54451996G>T uc002iun.1 + 7 875 c.840G>T c.(838-840)ATG>ATT p.M280I NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 280 Fibronectin type-III. large_intestine(1)|ovary(1) 2 TCTGTCTCATGGTAACCAGCA 0.468 8 192 --- --- --- --- PASS MPO 4353 broad.mit.edu 37 17 56350171 56350171 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:56350171A>T uc002ivu.1 - 10 1907 c.1730T>A c.(1729-1731)ATG>AAG p.M577K NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 577 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) CCCAATCCTCATGACCTGCTC 0.617 29 61 --- --- --- --- PASS STRADA 92335 broad.mit.edu 37 17 61788144 61788144 + Missense_Mutation SNP C A A rs141081057 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:61788144C>A uc002jbm.2 - 7 560 c.401G>T c.(400-402)CGA>CTA p.R134L STRADA_uc002jbn.2_Missense_Mutation_p.R76L|STRADA_uc002jbo.2_Missense_Mutation_p.R97L|STRADA_uc002jbp.2_Missense_Mutation_p.R97L|STRADA_uc002jbq.2_Missense_Mutation_p.R76L|STRADA_uc010wpq.1_Missense_Mutation_p.R90L|STRADA_uc010wpr.1_Missense_Mutation_p.R105L|STRADA_uc010ddw.2_Missense_Mutation_p.R105L|STRADA_uc002jbr.2_Missense_Mutation_p.R76L NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 134 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 AAAAGTGGCTCGATATGGCAC 0.478 4 59 --- --- --- --- PASS DDX42 11325 broad.mit.edu 37 17 61885120 61885120 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:61885120G>T uc002jbu.2 + 10 1140 c.883G>T c.(883-885)GGT>TGT p.G295C DDX42_uc002jbv.2_Missense_Mutation_p.G295C|DDX42_uc002jbw.1_Missense_Mutation_p.G31C|DDX42_uc002jbx.2_Missense_Mutation_p.G31C NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 295 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 AGACATGATTGGTATTGCCAA 0.403 7 157 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65918974 65918974 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:65918974G>T uc002jgf.2 + 14 5637 c.5576G>T c.(5575-5577)AGG>ATG p.R1859M BPTF_uc002jge.2_Missense_Mutation_p.R1985M NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1985 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACACCTCAGAGGAAAGGCCTT 0.413 6 113 --- --- --- --- PASS KCNJ2 3759 broad.mit.edu 37 17 68171272 68171272 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:68171272G>T uc010dfg.2 + 2 493 c.92G>T c.(91-93)GGG>GTG p.G31V KCNJ2_uc002jir.2_Missense_Mutation_p.G31V NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 31 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) AATGGCTTTGGGAACGGGAAG 0.512 5 60 --- --- --- --- PASS AATK 9625 broad.mit.edu 37 17 79094857 79094857 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:79094857G>T uc010dia.2 - 11 2959 c.2879C>A c.(2878-2880)CCC>CAC p.P960H AATK_uc010dhz.2_Intron NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 960 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) AAAGGCCTGGGGCTCACACCC 0.647 8 3 --- --- --- --- PASS AZI1 22994 broad.mit.edu 37 17 79163715 79163715 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:79163715C>A uc002jzp.1 - 25 3377 c.3177G>T c.(3175-3177)GAG>GAT p.E1059D AZI1_uc002jzm.1_Missense_Mutation_p.E491D|AZI1_uc002jzn.1_Missense_Mutation_p.E1056D|AZI1_uc002jzo.1_Missense_Mutation_p.E1020D|AZI1_uc010wum.1_Missense_Mutation_p.E1023D|AZI1_uc002jzq.2_Missense_Mutation_p.E207D NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 1059 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGGGACTCACCTCATGTTGTG 0.672 18 9 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3215013 3215013 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr18:3215013T>A uc002klp.2 - 2 543 c.209A>T c.(208-210)CAG>CTG p.Q70L MYOM1_uc002klq.2_Missense_Mutation_p.Q70L NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 70 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGCCTGCTGCTGGGAGGAGGA 0.692 12 12 --- --- --- --- PASS ATP5A1 498 broad.mit.edu 37 18 43666187 43666187 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr18:43666187G>T uc002lbr.1 - 10 1411 c.1321C>A c.(1321-1323)CGT>AGT p.R441S ATP5A1_uc010dnl.1_Missense_Mutation_p.R391S|ATP5A1_uc002lbs.1_Missense_Mutation_p.R391S|ATP5A1_uc002lbt.1_Missense_Mutation_p.R441S NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 441 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 GCAACCTCACGATACTGAGCC 0.458 4 56 --- --- --- --- PASS KATNAL2 83473 broad.mit.edu 37 18 44595926 44595926 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr18:44595926C>A uc002lco.2 + 10 941 c.747C>A c.(745-747)TCC>TCA p.S249S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.S176S NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 321 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 TTTCTGCATCCACCATTGTCA 0.373 5 48 --- --- --- --- PASS MBD1 4152 broad.mit.edu 37 18 47799296 47799296 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr18:47799296C>T uc010dow.1 - 14 2051 c.1614G>A c.(1612-1614)AAG>AAA p.K538K MBD1_uc002lef.2_Silent_p.K243K|MBD1_uc002leg.2_Silent_p.K488K|MBD1_uc010xdi.1_Silent_p.K589K|MBD1_uc002leh.3_Silent_p.K482K|MBD1_uc002len.2_Silent_p.K492K|MBD1_uc002lei.3_Silent_p.K538K|MBD1_uc002lej.3_Silent_p.K436K|MBD1_uc002lek.3_Silent_p.K489K|MBD1_uc002lel.3_Silent_p.K469K|MBD1_uc002lem.3_Silent_p.K538K|MBD1_uc010xdj.1_Silent_p.K436K|MBD1_uc010xdk.1_Silent_p.K563K|MBD1_uc010dox.1_Silent_p.K469K|MBD1_uc002leo.2_Silent_p.K492K NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 538 TRD. K->A: Abolishes sumoylation; when associated with A-499. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTGGCTCTTGCTTCACAGAAG 0.562 19 32 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74649197 74649197 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr18:74649197G>T uc002lmi.2 + 26 4872 c.4674G>T c.(4672-4674)TCG>TCT p.S1558S ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1558 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TCATGTCCTCGTCGGGCGTGG 0.542 31 23 --- --- --- --- PASS PIAS4 51588 broad.mit.edu 37 19 4012940 4012940 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:4012940G>T uc002lzg.2 + 2 57 c.47G>T c.(46-48)CGA>CTA p.R16L NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 16 SAP. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) ATGAGTTTTCGAGTCTCCGAC 0.597 5 68 --- --- --- --- PASS SEMA6B 10501 broad.mit.edu 37 19 4552448 4552448 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:4552448G>T uc010duc.1 - 9 1013 c.975C>A c.(973-975)TCC>TCA p.S325S SEMA6B_uc010dud.2_Silent_p.S325S|SEMA6B_uc010xih.1_Silent_p.S325S NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 325 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTGGGCGTGGAAAAAACGG 0.617 3 6 --- --- --- --- PASS MLLT1 4298 broad.mit.edu 37 19 6222149 6222149 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:6222149C>A uc002mek.2 - 6 1257 c.1093G>T c.(1093-1095)GCC>TCC p.A365S NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 365 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 TTGAAGGAGGCCTCGTCCTCT 0.587 T MLL AL 6 6 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6906479 6906479 + Missense_Mutation SNP G T T rs151096072 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:6906479G>T uc002mfw.2 + 9 1023 c.985G>T c.(985-987)GAT>TAT p.D329Y EMR1_uc010dvc.2_Missense_Mutation_p.D329Y|EMR1_uc010dvb.2_Missense_Mutation_p.D277Y|EMR1_uc010xji.1_Missense_Mutation_p.D188Y|EMR1_uc010xjj.1_Missense_Mutation_p.D152Y NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 329 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TGTGATACCCGATAATAAGCA 0.393 27 45 --- --- --- --- PASS ELAVL1 1994 broad.mit.edu 37 19 8045966 8045966 + Splice_Site SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:8045966C>A uc002mjb.2 - 3 443 c.276_splice c.e3+1 p.K92_splice NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 GATCCCTTTACCTTAATGGTT 0.557 16 16 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8156451 8156451 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:8156451G>A uc002mjf.2 - 47 5950 c.5929C>T c.(5929-5931)CCC>TCC p.P1977S FBN3_uc002mje.2_5'Flank NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1977 EGF-like 32; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CAGAGGTTGGGCTCCTCTGAG 0.592 25 43 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8161784 8161784 + Silent SNP C G G rs80293030 byFrequency TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:8161784C>G uc002mjf.2 - 42 5415 c.5394G>C c.(5392-5394)TCG>TCC p.S1798S NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1798 EGF-like 27; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCCCGCCTGGCGACAGTTTGT 0.617 12 37 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9061578 9061578 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:9061578G>T uc002mkp.2 - 3 26072 c.25868C>A c.(25867-25869)TCA>TAA p.S8623* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8625 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TATTTCAGCTGAGGTGCTGCT 0.458 5 79 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089069 9089069 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:9089069G>C uc002mkp.2 - 1 2950 c.2746C>G c.(2746-2748)CTA>GTA p.L916V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 916 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCACTCACTAGGTGGGATGAA 0.522 6 28 --- --- --- --- PASS ZNF443 10224 broad.mit.edu 37 19 12541030 12541030 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:12541030C>A uc002mtu.2 - 4 2154 c.1956G>T c.(1954-1956)AAG>AAT p.K652N NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 652 C2H2-type 19. induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 TCCCACATTCCTTACATTCAT 0.383 5 63 --- --- --- --- PASS TNPO2 30000 broad.mit.edu 37 19 12830132 12830132 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:12830132G>C uc002muo.2 - 3 303 c.118C>G c.(118-120)CAG>GAG p.Q40E TNPO2_uc002mup.2_Missense_Mutation_p.Q132E|TNPO2_uc002muq.2_Missense_Mutation_p.Q40E|TNPO2_uc002mur.2_Missense_Mutation_p.Q40E NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 40 Importin N-terminal. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 TCAGGAAACTGATTGAGTTGT 0.512 7 27 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13397689 13397689 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:13397689G>C uc010dze.2 - 20 3420 c.3184C>G c.(3184-3186)CTG>GTG p.L1062V CACNA1A_uc010dzc.2_Missense_Mutation_p.L587V|CACNA1A_uc002mwy.3_Missense_Mutation_p.L1061V|CACNA1A_uc010xne.1_Missense_Mutation_p.L590V NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1062 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCCTCTGCCAGGGGTGGGTCT 0.672 8 11 --- --- --- --- PASS WIZ 58525 broad.mit.edu 37 19 15535691 15535691 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:15535691G>T uc002nbc.2 - 6 2307 c.2284C>A c.(2284-2286)CGG>AGG p.R762R WIZ_uc002nba.3_Silent_p.R629R|WIZ_uc002nbb.3_Silent_p.R588R NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1445 nucleus zinc ion binding 0 TTCTGGGGCCGGTGTTTGATC 0.667 3 4 --- --- --- --- PASS EPS15L1 58513 broad.mit.edu 37 19 16506271 16506271 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:16506271G>C uc002ndz.1 - 17 1805 c.1799C>G c.(1798-1800)CCT>CGT p.P600R EPS15L1_uc002ndx.2_Missense_Mutation_p.P600R|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.P490R|EPS15L1_uc010xpf.1_Missense_Mutation_p.P503R|EPS15L1_uc002nea.1_Missense_Mutation_p.P600R|EPS15L1_uc010eah.1_Missense_Mutation_p.P602R NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 600 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 ATTTTTGAAAGGATCATCCTA 0.373 22 100 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17949144 17949144 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:17949144C>A uc002nhn.3 - 11 1597 c.1497G>T c.(1495-1497)TTG>TTT p.L499F JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.L499F|JAK3_uc010xpx.1_3'UTR NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 499 B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GGGGCTGAACCAAGGATGATG 0.517 2 Mis acute megakaryocytic leukemia| 6 102 --- --- --- --- PASS ZNF486 90649 broad.mit.edu 37 19 20308008 20308008 + Silent SNP T C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:20308008T>C uc002nou.2 + 4 546 c.489T>C c.(487-489)TTT>TTC p.F163F NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 163 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAAAGTCTTTCATCAATTTT 0.313 17 64 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154698 22154698 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:22154698T>A uc002nqp.2 - 6 2903 c.2754A>T c.(2752-2754)GAA>GAT p.E918D ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGCCTTATGTTCAGTAAGGC 0.438 42 62 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22939259 22939259 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:22939259G>C uc010xrh.1 - 7 2912 c.2912C>G c.(2911-2913)CCC>CGC p.P971R NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTTGTAGGGTTTCTTTCC 0.373 10 22 --- --- --- --- PASS ZNF114 163071 broad.mit.edu 37 19 48789340 48789340 + Silent SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:48789340T>A uc002pil.1 + 6 956 c.459T>A c.(457-459)CGT>CGA p.R153R ZNF114_uc010elv.1_Silent_p.R153R|ZNF114_uc002pim.1_Silent_p.R153R|ZNF114_uc002pin.2_Silent_p.R119R NM_153608 NP_705836 Q8NC26 ZN114_HUMAN zinc finger protein 114 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TCCTAACACGTGACTCAAGTA 0.408 29 29 --- --- --- --- PASS GPR32 2854 broad.mit.edu 37 19 51274370 51274370 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:51274370C>T uc010ycf.1 + 1 513 c.513C>T c.(511-513)GCC>GCT p.A171A NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 171 Helical; Name=4; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TGGCCGCCGCCTTGTGCTCTG 0.592 12 18 --- --- --- --- PASS KLK6 5653 broad.mit.edu 37 19 51470440 51470440 + Missense_Mutation SNP G C C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:51470440G>C uc002pui.2 - 4 442 c.182C>G c.(181-183)GCC>GGC p.A61G KLK6_uc010eoj.2_Missense_Mutation_p.A61G|KLK6_uc002puh.2_Missense_Mutation_p.A70G|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.A61G|KLK6_uc002pum.2_Intron NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 61 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TTTGCAGTGGGCAGCTGTGAG 0.537 15 12 --- --- --- --- PASS ZNF813 126017 broad.mit.edu 37 19 53994668 53994668 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:53994668G>A uc002qbu.2 + 4 1310 c.1182G>A c.(1180-1182)CAG>CAA p.Q394Q ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 394 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CCTTCAGTCAGGAGTTAACCC 0.418 12 52 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56952833 56952833 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:56952833T>A uc002qnd.2 - 5 1693 c.1531A>T c.(1531-1533)AGT>TGT p.S511C ZNF667_uc010etl.2_Missense_Mutation_p.S293C|ZNF667_uc002qne.2_Missense_Mutation_p.S511C|ZNF667_uc010etm.2_Missense_Mutation_p.S454C NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 511 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AGGTGTGCACTCTGGCTGAAG 0.448 19 13 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58187556 58187556 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr19:58187556G>T uc002qpu.2 + 3 740 c.43G>T c.(43-45)GAG>TAG p.E15* NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 15 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAACCATCCGAGAATAATCT 0.393 4 53 --- --- --- --- PASS TMC2 117532 broad.mit.edu 37 20 2597739 2597739 + Silent SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:2597739A>T uc002wgf.1 + 16 1977 c.1962A>T c.(1960-1962)CCA>CCT p.P654P TMC2_uc002wgg.1_Silent_p.P638P NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 654 Cytoplasmic (Potential). integral to membrane ovary(3) 3 TCTATGCTCCAGGCCTGGTGG 0.567 18 16 --- --- --- --- PASS BMP2 650 broad.mit.edu 37 20 6759229 6759229 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:6759229G>T uc002wmu.1 + 3 1469 c.684G>T c.(682-684)GTG>GTT p.V228V NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 228 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding ovary(1)|breast(1) 2 Simvastatin(DB00641) GATTCGTGGTGGAAGTGGCCC 0.522 4 18 --- --- --- --- PASS DTD1 92675 broad.mit.edu 37 20 18576691 18576691 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:18576691G>T uc002wrf.3 + 3 337 c.176G>T c.(175-177)AGT>ATT p.S59I NM_080820 NP_543010 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 59 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds ovary(2) 2 GAGGATGAGAGTGGGAAGCAC 0.498 29 17 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20269413 20269413 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:20269413G>A uc002wru.2 + 23 3033 c.2957G>A c.(2956-2958)AGA>AAA p.R986K C20orf26_uc002wrw.2_Intron NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 986 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TTCTCCAATAGATACTACTCA 0.458 28 19 --- --- --- --- PASS CSTL1 128817 broad.mit.edu 37 20 23424661 23424661 + Missense_Mutation SNP C G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:23424661C>G uc002wte.2 + 3 556 c.310C>G c.(310-312)CAA>GAA p.Q104E CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA NM_138283 NP_612140 Q9H114 CST1L_HUMAN cystatin-like 1 precursor 104 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0993)|Lung NSC(19;0.235) CTGCCCCCTGCAAAGCAAGAA 0.468 31 15 --- --- --- --- PASS MYLK2 85366 broad.mit.edu 37 20 30409459 30409459 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:30409459C>A uc002wwq.2 + 4 793 c.691C>A c.(691-693)CAG>AAG p.Q231K NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 231 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GATTGAGTTCCAGGCTGTTCC 0.607 5 52 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36874360 36874360 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:36874360G>T uc002xhy.1 - 2 444 c.172C>A c.(172-174)CTG>ATG p.L58M KIAA1755_uc002xhz.1_Missense_Mutation_p.L58M NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 58 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) TGCTCACACAGGCGCTTGGCA 0.587 5 29 --- --- --- --- PASS SALL4 57167 broad.mit.edu 37 20 50408097 50408097 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:50408097C>A uc002xwh.3 - 2 1026 c.925G>T c.(925-927)GGG>TGG p.G309W SALL4_uc010gii.2_Missense_Mutation_p.G309W|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 309 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GGTGCCAGCCCTGGGGACAGG 0.632 7 11 --- --- --- --- PASS TH1L 51497 broad.mit.edu 37 20 57564617 57564617 + Silent SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:57564617G>T uc002yag.2 + 6 633 c.606G>T c.(604-606)TCG>TCT p.S202S TH1L_uc010zzu.1_Silent_p.S202S|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S202S NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 202 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) AAGTGTTCTCGAGAGTGCTCC 0.463 8 155 --- --- --- --- PASS CDH26 60437 broad.mit.edu 37 20 58564203 58564203 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:58564203C>A uc002ybe.2 + 9 1568 c.1268C>A c.(1267-1269)CCA>CAA p.P423Q CDH26_uc002ybf.1_Missense_Mutation_p.P3Q|CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 423 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GCCATGGATCCAGACAGCCAG 0.522 6 144 --- --- --- --- PASS PRPF6 24148 broad.mit.edu 37 20 62660759 62660759 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr20:62660759G>T uc002yho.2 + 19 2629 c.2461G>T c.(2461-2463)GAG>TAG p.E821* PRPF6_uc002yhp.2_Nonsense_Mutation_p.E781* NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 821 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CATCTTCCTCGAGGCAAGGCC 0.572 4 47 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10944758 10944758 + Missense_Mutation SNP T A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr21:10944758T>A uc002yip.1 - 11 844 c.476A>T c.(475-477)AAC>ATC p.N159I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N141I|TPTE_uc002yir.1_Missense_Mutation_p.N121I|TPTE_uc010gkv.1_Missense_Mutation_p.N21I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 159 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCTAAAATGTTAAATAAGTC 0.318 14 68 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33371371 33371371 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr21:33371371G>T uc002yph.2 + 11 2379 c.2019G>T c.(2017-2019)AGG>AGT p.R673S NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 673 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 AGATGTTAAGGAAGCGCCATC 0.612 13 27 --- --- --- --- PASS IFNAR1 3454 broad.mit.edu 37 21 34715845 34715845 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr21:34715845G>T uc002yrn.2 + 5 683 c.536G>T c.(535-537)AGG>ATG p.R179M IFNAR1_uc011adv.1_Missense_Mutation_p.R110M NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 179 Fibronectin type-III 1.|Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTATAGGAAAGGATTGAAAAT 0.284 5 30 --- --- --- --- PASS MX2 4600 broad.mit.edu 37 21 42771143 42771143 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr21:42771143G>T uc002yzf.1 + 10 1397 c.1293G>T c.(1291-1293)CAG>CAT p.Q431H MX2_uc002yzg.1_Missense_Mutation_p.Q154H|MX2_uc010gop.1_Intron NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 431 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TGTTTAATCAGGACATCGAAA 0.383 5 63 --- --- --- --- PASS TPST2 8459 broad.mit.edu 37 22 26937263 26937263 + Missense_Mutation SNP C A A rs142901851 byFrequency TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr22:26937263C>A uc003acv.2 - 2 502 c.334G>T c.(334-336)GCC>TCC p.A112S TPST2_uc003acw.2_Missense_Mutation_p.A112S|TPST2_uc003acx.2_Missense_Mutation_p.A112S|TPST2_uc011akf.1_Missense_Mutation_p.A112S NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 112 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 TTGGACCAGGCCTGGCGCATG 0.687 5 9 --- --- --- --- PASS NF2 4771 broad.mit.edu 37 22 30035117 30035117 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr22:30035117C>A uc003age.3 + 3 722 c.279C>A c.(277-279)ACC>ACA p.T93T NF2_uc003afy.3_Silent_p.T93T|NF2_uc003afz.3_Intron|NF2_uc003agf.3_Silent_p.T93T|NF2_uc003agb.3_Silent_p.T16T|NF2_uc003agc.3_Silent_p.T55T|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Silent_p.T93T|NF2_uc003aga.3_Silent_p.T51T|NF2_uc003agh.3_Intron|NF2_uc003agi.3_Intron|NF2_uc003agj.3_Silent_p.T93T|NF2_uc003agk.3_Silent_p.T55T NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 93 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.H84_F100del(1)|p.V86_Q111>E(1)|p.F94fs*27(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 AACCAGTCACCTTTCACTTCT 0.433 D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 5 58 --- --- --- --- PASS C22orf33 339669 broad.mit.edu 37 22 37397983 37397983 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr22:37397983C>T uc003aqf.2 - 3 530 c.384G>A c.(382-384)CAG>CAA p.Q128Q C22orf33_uc003aqe.2_Silent_p.Q43Q NM_001163857 NP_001157329 O43247 EAN57_HUMAN hypothetical protein LOC339669 isoform 1 128 0 TCCTCTGGTCCTGAGCCCCCA 0.622 4 8 --- --- --- --- PASS NOL12 79159 broad.mit.edu 37 22 38084982 38084982 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr22:38084982G>T uc003atp.2 + 4 420 c.364G>T c.(364-366)GGG>TGG p.G122W NOL12_uc011anm.1_Missense_Mutation_p.G122W|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR NM_024313 NP_077289 Q9UGY1 NOL12_HUMAN nucleolar protein 12 122 nucleolus rRNA binding 0 Melanoma(58;0.0574) CCGGCTGCTCGGGCTGACCCC 0.647 19 31 --- --- --- --- PASS MEI1 150365 broad.mit.edu 37 22 42172170 42172170 + Missense_Mutation SNP T G G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr22:42172170T>G uc003baz.1 + 21 2634 c.2609T>G c.(2608-2610)CTG>CGG p.L870R WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.L256R|MEI1_uc003bbc.1_Missense_Mutation_p.L238R|MEI1_uc010gym.1_Missense_Mutation_p.L238R|MEI1_uc003bbd.1_Missense_Mutation_p.L113R|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 870 binding central_nervous_system(1)|skin(1) 2 AGGACCTTCCTGAGGAGGAAT 0.552 12 48 --- --- --- --- PASS WNT7B 7477 broad.mit.edu 37 22 46327162 46327162 + Missense_Mutation SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr22:46327162C>T uc003bgo.2 - 3 760 c.386G>A c.(385-387)AGC>AAC p.S129N WNT7B_uc010haa.2_Missense_Mutation_p.S133N NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 129 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) GCCGCAGTTGCTCAGGTTCCC 0.682 4 16 --- --- --- --- PASS TUBGCP6 85378 broad.mit.edu 37 22 50678788 50678788 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr22:50678788C>A uc003bkb.1 - 2 1262 c.750G>T c.(748-750)CCG>CCT p.P250P TUBGCP6_uc010har.1_Silent_p.P250P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.P250P NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 250 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GATCCACACTCGGTGGGACCT 0.547 3 16 --- --- --- --- PASS TMEM27 57393 broad.mit.edu 37 X 15657828 15657828 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:15657828C>A uc004cxc.1 - 5 625 c.369G>T c.(367-369)CTG>CTT p.L123L NM_020665 NP_065716 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 precursor 123 Extracellular (Potential). proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity ovary(1) 1 Hepatocellular(33;0.183) TTAAAAATTCCAGAGTTTGGT 0.333 5 82 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27998521 27998521 + Missense_Mutation SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:27998521C>A uc004dbx.1 - 1 1046 c.931G>T c.(931-933)GTG>TTG p.V311L NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 311 WD 3. ovary(3)|skin(1) 4 ATGGTGAACACAACGGCATCT 0.483 22 16 --- --- --- --- PASS FAM47B 170062 broad.mit.edu 37 X 34961693 34961693 + Missense_Mutation SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:34961693G>A uc004ddi.1 + 1 763 c.745G>A c.(745-747)GTG>ATG p.V249M NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 249 Pro-rich. ovary(3)|breast(1) 4 TCATCTCCGCGTGGATCCTCC 0.627 27 17 --- --- --- --- PASS AKAP4 8852 broad.mit.edu 37 X 49957417 49957417 + Silent SNP G A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:49957417G>A uc004dow.1 - 5 2071 c.1947C>T c.(1945-1947)TGC>TGT p.C649C AKAP4_uc004dov.1_Silent_p.C266C|AKAP4_uc010njp.1_Silent_p.C471C|AKAP4_uc004dou.1_Silent_p.C640C NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 649 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) TCTCACCTTCGCATGGATCCT 0.463 29 13 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75649158 75649158 + Nonsense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:75649158G>T uc004ecm.1 + 1 1042 c.835G>T c.(835-837)GGA>TGA p.G279* NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 279 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CGCCTCTGACGGACAAAGCAT 0.706 3 4 --- --- --- --- PASS POU3F4 5456 broad.mit.edu 37 X 82763671 82763671 + Silent SNP C T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:82763671C>T uc004eeg.2 + 1 403 c.339C>T c.(337-339)GCC>GCT p.A113A NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 113 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 ACCCCAACGCCTGGGGGGCCA 0.652 7 3 --- --- --- --- PASS NXF3 56000 broad.mit.edu 37 X 102335086 102335086 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:102335086G>T uc004eju.2 - 11 1057 c.986C>A c.(985-987)CCA>CAA p.P329Q NXF3_uc010noi.1_Missense_Mutation_p.P179Q NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 329 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 CTTACAGGTTGGTAACCTCTT 0.537 8 198 --- --- --- --- PASS IL1RAPL2 26280 broad.mit.edu 37 X 105011289 105011289 + Silent SNP C A A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:105011289C>A uc004elz.1 + 11 2452 c.1696C>A c.(1696-1698)CGG>AGG p.R566R NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 566 Cytoplasmic (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 AATGCTACCTCGGTGCCATGT 0.438 5 127 --- --- --- --- PASS LONRF3 79836 broad.mit.edu 37 X 118116786 118116786 + Silent SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:118116786A>T uc004eqw.2 + 3 970 c.939A>T c.(937-939)GCA>GCT p.A313A LONRF3_uc004eqx.2_Intron|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Silent_p.A5A NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 313 TPR 4. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CCTTCCAGGCACATTTCAGAA 0.423 42 22 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685298 125685298 + Missense_Mutation SNP A T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:125685298A>T uc004eul.2 - 1 1545 c.1294T>A c.(1294-1296)TAC>AAC p.Y432N NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 432 skin(3)|ovary(1) 4 CAGTGGGTGTAGAGCGCATTG 0.557 44 28 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154182254 154182254 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:154182254G>T uc004fmt.2 - 12 1987 c.1816C>A c.(1816-1818)CTC>ATC p.L606I NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 606 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTCTGTGAGGTACCAGCTT 0.428 7 123 --- --- --- --- PASS IL9R 3581 broad.mit.edu 37 X 155232571 155232571 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrX:155232571G>T uc004fnv.1 + 2 208 c.29G>T c.(28-30)GGC>GTC p.G10V IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.G57V NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 10 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCCCTTGCAGGCTGGACCTTG 0.622 11 54 --- --- --- --- PASS PCDH11Y 83259 broad.mit.edu 37 Y 4924872 4924872 + Missense_Mutation SNP G T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chrY:4924872G>T uc004fqo.2 + 1 742 c.8G>T c.(7-9)AGG>ATG p.R3M PCDH11Y_uc010nwg.1_Intron|PCDH11Y_uc004fql.1_Intron|PCDH11Y_uc004fqm.1_Intron|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R3M NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 3 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TGCATGTTTAGGGTTGGCTTC 0.328 9 8 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227400857 227400857 + Frame_Shift_Del DEL C - - TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr1:227400857delC uc001hqr.2 - 3 1277 c.334delG c.(334-336)GAAfs p.E112fs CDC42BPA_uc001hqs.2_Frame_Shift_Del_p.E112fs|CDC42BPA_uc009xes.2_Frame_Shift_Del_p.E112fs|CDC42BPA_uc010pvs.1_Frame_Shift_Del_p.E112fs NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 112 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TTCAGCATTTCCCATTTATTC 0.239 36 16 --- --- --- --- ANKRD31 256006 broad.mit.edu 37 5 74491716 74491718 + In_Frame_Del DEL TCA - - rs143148927 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr5:74491716_74491718delTCA uc003kdo.1 - 7 947_949 c.755_757delTGA c.(754-759)ATGAAC>AAC p.M252del Q8N7Z5 ANR31_HUMAN Homo sapiens cDNA FLJ40191 fis, clone TESTI2019280, weakly similar to Homo sapiens nasopharyngeal carcinoma susceptibility protein LZ16 mRNA. 252 0 CTCAATGGGTTCATCAATTCTTT 0.379 9 5 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139635985 139635985 + Frame_Shift_Del DEL G - - TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr8:139635985delG uc003yvd.2 - 52 4208 c.3761delC c.(3760-3762)CCTfs p.P1254fs COL22A1_uc011ljo.1_Frame_Shift_Del_p.P534fs NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1254 Pro-rich.|Gly-rich.|Collagen-like 12. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CGGCTCTCCAGGGGGACCCGG 0.378 HNSCC(7;0.00092) 149 69 --- --- --- --- SCARF1 8578 broad.mit.edu 37 17 1538677 1538678 + Frame_Shift_Ins INS - T T TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:1538677_1538678insT uc002fsz.1 - 11 1917_1918 c.1867_1868insA c.(1867-1869)GCGfs p.A623fs SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Frame_Shift_Ins_p.A537fs NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 623 Gly-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACCCGACTGCGCCCCCCGGGAG 0.668 6 13 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577550 7577550 + Frame_Shift_Del DEL C - - rs28934572 TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx e03577e7-37be-460b-96e8-5f6e0b49b3aa 039cc9b2-bb06-4af8-a7c1-cfecf25753be g.chr17:7577550delC uc002gim.2 - 7 925 c.731delG c.(730-732)GGCfs p.G244fs TP53_uc002gig.1_Frame_Shift_Del_p.G244fs|TP53_uc002gih.2_Frame_Shift_Del_p.G244fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G112fs|TP53_uc010cng.1_Frame_Shift_Del_p.G112fs|TP53_uc002gii.1_Frame_Shift_Del_p.G112fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G244fs|TP53_uc010cni.1_Frame_Shift_Del_p.G244fs|TP53_uc002gij.2_Frame_Shift_Del_p.G244fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G151fs|TP53_uc002gio.2_Frame_Shift_Del_p.G112fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 244 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G244S(35)|p.G244C(34)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTCATGCCGCCCATGCAGGA 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 22 --- --- --- ---