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 AJAP1 55966 broad.mit.edu 37 1 4772135 4772135 + Nonsense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:4772135G>T uc001alm.1 + 2 586 c.205G>T c.(205-207)GGA>TGA p.G69* AJAP1_uc001aln.2_Nonsense_Mutation_p.G69* NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 69 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TTTTAGGAGTGGACAGCCAGC 0.622 10 20 --- --- --- --- PASS PRAMEF2 65122 broad.mit.edu 37 1 12918947 12918947 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:12918947T>A uc001aum.1 + 2 170 c.83T>A c.(82-84)ATG>AAG p.M28K NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 28 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATCTCTGCCATGGAGGAGCTG 0.607 45 167 --- --- --- --- PASS EPB41 2035 broad.mit.edu 37 1 29438932 29438932 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:29438932C>T uc001brm.1 + 18 2475 c.2468C>T c.(2467-2469)ACA>ATA p.T823I EPB41_uc001brg.1_Missense_Mutation_p.T600I|EPB41_uc001brh.1_Missense_Mutation_p.T547I|EPB41_uc001bri.1_Missense_Mutation_p.T734I|EPB41_uc001brj.1_Missense_Mutation_p.T560I|EPB41_uc001brl.1_Missense_Mutation_p.T790I|EPB41_uc009vtl.1_Missense_Mutation_p.T517I|EPB41_uc009vtm.1_Missense_Mutation_p.T402I|EPB41_uc009vtn.1_RNA NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 823 Carboxyl-terminal (CTD). blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) ATTGTGATCACAGGAGATGCT 0.448 35 97 --- --- --- --- PASS GBP4 115361 broad.mit.edu 37 1 89652777 89652777 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:89652777C>A uc001dnb.2 - 9 1535 c.1419G>T c.(1417-1419)GAG>GAT p.E473D NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 473 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TCTGGAGGACCTCGTTTGCCT 0.473 20 92 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118534064 118534064 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:118534064C>T uc001ehk.2 - 37 5517 c.5449G>A c.(5449-5451)GCT>ACT p.A1817T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1817 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AGATCAGCAGCATTGCCTCTC 0.363 31 86 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120506351 120506351 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:120506351A>G uc001eik.2 - 11 2017 c.1761T>C c.(1759-1761)GGT>GGC p.G587G NOTCH2_uc001eil.2_Silent_p.G587G|NOTCH2_uc001eim.3_Silent_p.G504G NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 587 Extracellular (Potential).|EGF-like 15; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGAATCAATACCATCCTGAC 0.488 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 27 288 --- --- --- --- PASS DCST1 149095 broad.mit.edu 37 1 155007172 155007172 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:155007172A>G uc001fgn.1 + 4 327 c.231A>G c.(229-231)GAA>GAG p.E77E DCST2_uc001fgm.2_5'Flank|DCST2_uc009wpb.2_5'Flank|DCST1_uc010per.1_Silent_p.E102E|DCST1_uc010pes.1_Intron NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 77 Extracellular (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCTACGAAGAACAGAAGATTA 0.542 130 123 --- --- --- --- PASS SCAMP3 10067 broad.mit.edu 37 1 155231452 155231452 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:155231452C>T uc001fjs.2 - 2 393 c.140G>A c.(139-141)CGG>CAG p.R47Q RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fju.2_Missense_Mutation_p.R47Q|SCAMP3_uc001fjv.2_Missense_Mutation_p.R47Q|SCAMP3_uc001fjt.2_Intron NM_005698 NP_005689 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 isoform 1 47 Cytoplasmic (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane ovary(3) 3 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTCACCTCCCGGGTCTCAAA 0.572 135 121 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158632626 158632626 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:158632626G>A uc001fst.1 - 17 2529 c.2330C>T c.(2329-2331)GCT>GTT p.A777V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 777 Spectrin 8. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTCTTTCAGAGCTTCAAATCG 0.473 86 69 --- --- --- --- PASS ATF6 22926 broad.mit.edu 37 1 161790926 161790926 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:161790926A>G uc001gbr.2 + 9 1229 c.1162A>G c.(1162-1164)ATA>GTA p.I388V ATF6_uc001gbq.1_Missense_Mutation_p.I388V NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 388 Helical; Signal-anchor for type II membrane protein; (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ATTGGCATTTATAATACTGAA 0.318 6 229 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176525526 176525526 + Missense_Mutation SNP A T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:176525526A>T uc001gkz.2 + 2 1232 c.68A>T c.(67-69)AAC>ATC p.N23I PAPPA2_uc001gky.1_Missense_Mutation_p.N23I|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 23 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGTTCTGCCAACTCTGAGCTG 0.512 155 162 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564569 176564569 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:176564569G>T uc001gkz.2 + 3 2993 c.1829G>T c.(1828-1830)GGT>GTT p.G610V PAPPA2_uc001gky.1_Missense_Mutation_p.G610V|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 610 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TATGATGGGGGTGACTGCCGC 0.587 73 55 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186277633 186277633 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:186277633C>A uc001gru.3 + 7 2833 c.2782C>A c.(2782-2784)CCT>ACT p.P928T PRG4_uc001grt.3_Missense_Mutation_p.P887T|PRG4_uc009wyl.2_Missense_Mutation_p.P835T|PRG4_uc009wym.2_Missense_Mutation_p.P794T|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 928 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACGTACTACACCTGAAACTAC 0.413 5 282 --- --- --- --- PASS IGFN1 91156 broad.mit.edu 37 1 201196167 201196167 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:201196167C>A uc001gwc.2 + 12 3196 c.2424C>A c.(2422-2424)TTC>TTA p.F808L IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 TCACCTGGTTCAAGAATGACC 0.677 78 66 --- --- --- --- PASS DTL 51514 broad.mit.edu 37 1 212273761 212273761 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:212273761C>T uc009xdc.2 + 14 1743 c.1429C>T c.(1429-1431)CGG>TGG p.R477W DTL_uc010ptb.1_Missense_Mutation_p.R435W|DTL_uc001hiz.3_Missense_Mutation_p.R206W NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 477 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) TGCCAAGGCCCGGTCTCCCAT 0.532 22 168 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216737608 216737608 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:216737608G>A uc001hkw.1 - 5 981 c.815C>T c.(814-816)GCC>GTC p.A272V ESRRG_uc001hky.1_Missense_Mutation_p.A249V|ESRRG_uc009xdp.1_Missense_Mutation_p.A249V|ESRRG_uc001hkz.1_Missense_Mutation_p.A210V|ESRRG_uc010puc.1_Missense_Mutation_p.A249V|ESRRG_uc001hla.1_Missense_Mutation_p.A249V|ESRRG_uc001hlb.1_Missense_Mutation_p.A249V|ESRRG_uc010pud.1_Missense_Mutation_p.A80V|ESRRG_uc001hlc.1_Missense_Mutation_p.A249V|ESRRG_uc001hld.1_Missense_Mutation_p.A249V|ESRRG_uc001hkx.1_Missense_Mutation_p.A284V|ESRRG_uc009xdo.1_Missense_Mutation_p.A249V|ESRRG_uc001hle.1_Missense_Mutation_p.A249V NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 272 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CTCTCGGTCGGCCAAGTCACA 0.463 4 210 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232575068 232575068 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:232575068T>C uc001hvg.2 - 13 3975 c.3817A>G c.(3817-3819)ATG>GTG p.M1273V SIPA1L2_uc001hvf.2_Missense_Mutation_p.M347V NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1273 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) GTGGCAGGCATGCAGGGGGCC 0.657 9 107 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237777577 237777577 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr1:237777577G>T uc001hyl.1 + 37 5269 c.5149G>T c.(5149-5151)GCC>TCC p.A1717S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1717 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATGCCACTGCCAGGCTCAT 0.517 41 39 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21228401 21228401 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:21228401G>T uc002red.2 - 26 11467 c.11339C>A c.(11338-11340)GCC>GAC p.A3780D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3780 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) TAGGTTGAGGGCAAATGATGA 0.398 92 215 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27164897 27164897 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:27164897G>A uc002rhu.3 + 10 1327 c.1169G>A c.(1168-1170)CGC>CAC p.R390H DPYSL5_uc002rhv.3_Missense_Mutation_p.R390H NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 390 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTATCCCCGCAAGGGCCGC 0.532 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 218 --- --- --- --- PASS SPAST 6683 broad.mit.edu 37 2 32289075 32289075 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:32289075G>C uc002roc.2 + 1 396 c.175G>C c.(175-177)GTA>CTA p.V59L SPAST_uc002rod.2_Missense_Mutation_p.V59L NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 59 Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CCCGCTGTTTGTAGGCTTCGC 0.498 14 24 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33411958 33411958 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:33411958T>A uc002ros.2 + 6 1237 c.1237T>A c.(1237-1239)TGC>AGC p.C413S LTBP1_uc002rot.2_Missense_Mutation_p.C87S|LTBP1_uc002rou.2_Missense_Mutation_p.C87S|LTBP1_uc002rov.2_Missense_Mutation_p.C87S|LTBP1_uc010ymz.1_Missense_Mutation_p.C87S|LTBP1_uc010yna.1_Missense_Mutation_p.C87S NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 413 EGF-like 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGGTGGCCAGTGCAGTTCAAG 0.438 7 73 --- --- --- --- PASS CDKL4 344387 broad.mit.edu 37 2 39406320 39406320 + Missense_Mutation SNP G T T rs143704348 by1000genomes TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:39406320G>T uc002rrm.2 - 8 935 c.935C>A c.(934-936)CCG>CAG p.P312Q CDKL4_uc010fal.1_Intron NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 312 cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) ACTTTTGAGCGGAAGTACCTG 0.383 69 221 --- --- --- --- PASS CDKL4 344387 broad.mit.edu 37 2 39406321 39406321 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:39406321G>T uc002rrm.2 - 8 934 c.934C>A c.(934-936)CCG>ACG p.P312T CDKL4_uc010fal.1_Intron NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 312 cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) CTTTTGAGCGGAAGTACCTGT 0.383 70 219 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49244674 49244674 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:49244674A>G uc002rww.2 - 4 402 c.328T>C c.(328-330)TAC>CAC p.Y110H FSHR_uc002rwx.2_Missense_Mutation_p.Y110H|FSHR_uc010fbn.2_Missense_Mutation_p.Y110H|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 110 Extracellular (Potential).|LRR 3. 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) GGGTTGATGTAGAGCAGGTTG 0.388 Gonadal_Dysgenesis_46_XX 8 84 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71740979 71740979 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:71740979C>T uc002sie.2 + 6 967 c.591C>T c.(589-591)TAC>TAT p.Y197Y DYSF_uc010feg.2_Silent_p.Y228Y|DYSF_uc010feh.2_Silent_p.Y197Y|DYSF_uc002sig.3_Silent_p.Y197Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.Y197Y|DYSF_uc010fef.2_Silent_p.Y228Y|DYSF_uc010fei.2_Silent_p.Y228Y|DYSF_uc010fek.2_Silent_p.Y229Y|DYSF_uc010fej.2_Silent_p.Y198Y|DYSF_uc010fel.2_Silent_p.Y198Y|DYSF_uc010feo.2_Silent_p.Y229Y|DYSF_uc010fem.2_Silent_p.Y198Y|DYSF_uc010fen.2_Silent_p.Y229Y|DYSF_uc002sif.2_Silent_p.Y198Y NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 197 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CGCCCCACTACCCCGGGATCA 0.582 9 67 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80136875 80136875 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:80136875C>A uc010ysh.1 + 6 1013 c.1008C>A c.(1006-1008)AAC>AAA p.N336K CTNNA2_uc010yse.1_Missense_Mutation_p.N336K|CTNNA2_uc010ysf.1_Missense_Mutation_p.N336K|CTNNA2_uc010ysg.1_Missense_Mutation_p.N336K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 336 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CGGAGTGCAACGCCGTGCGGC 0.597 34 74 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80816542 80816542 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:80816542C>A uc010ysh.1 + 14 2126 c.2121C>A c.(2119-2121)AGC>AGA p.S707R CTNNA2_uc010yse.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysf.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysg.1_Missense_Mutation_p.S707R|CTNNA2_uc010ysi.1_Missense_Mutation_p.S339R|CTNNA2_uc010ysj.1_Missense_Mutation_p.S36R NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 707 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GGGACGACAGCGGCAATGATA 0.478 39 95 --- --- --- --- PASS ELMOD3 84173 broad.mit.edu 37 2 85617334 85617334 + Missense_Mutation SNP C T T rs143405971 TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:85617334C>T uc002spf.3 + 14 1554 c.889C>T c.(889-891)CAT>TAT p.H297Y ELMOD3_uc002spg.3_Missense_Mutation_p.H297Y|ELMOD3_uc002sph.3_Missense_Mutation_p.H297Y|ELMOD3_uc010ysn.1_Missense_Mutation_p.H297Y|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 297 ELMO. phagocytosis cytoskeleton ovary(2) 2 CCACCTCGCACATGTCTGGAG 0.557 17 90 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130832537 130832537 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:130832537G>C uc010fmh.2 - 17 2908 c.2508C>G c.(2506-2508)ATC>ATG p.I836M NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 836 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 GCACAGCCTGGATGGCCACGT 0.582 51 378 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021756 132021756 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:132021756C>G uc002tsn.2 + 15 2780 c.2728C>G c.(2728-2730)CGT>GGT p.R910G PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R510G|POTEE_uc002tsl.2_Missense_Mutation_p.R492G|POTEE_uc010fmy.1_Missense_Mutation_p.R374G NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 910 Actin-like. ATP binding 0 GGAAATCGTGCGTGACATCAA 0.602 40 163 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141130622 141130622 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:141130622G>T uc002tvj.1 - 69 11695 c.10723C>A c.(10723-10725)CAT>AAT p.H3575N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3575 Extracellular (Potential).|LDL-receptor class A 27. 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) CAGTCTTCATGGCCATCACAT 0.363 TSP Lung(27;0.18) 76 235 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141130623 141130623 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:141130623G>T uc002tvj.1 - 69 11694 c.10722C>A c.(10720-10722)GGC>GGA p.G3574G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3574 Extracellular (Potential).|LDL-receptor class A 27. 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) AGTCTTCATGGCCATCACATT 0.363 TSP Lung(27;0.18) 74 232 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141242925 141242925 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:141242925C>T uc002tvj.1 - 59 10384 c.9412G>A c.(9412-9414)GAT>AAT p.D3138N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3138 Extracellular (Potential).|LDL-receptor class B 29. 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) GCTTGAGGATCTAAAGACAAG 0.338 TSP Lung(27;0.18) 13 137 --- --- --- --- PASS GRB14 2888 broad.mit.edu 37 2 165383553 165383553 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:165383553C>T uc002ucl.2 - 4 1115 c.574G>A c.(574-576)GCC>ACC p.A192T GRB14_uc010zcv.1_Missense_Mutation_p.A105T|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 192 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 TCATATTTGGCATAATTTTTT 0.333 55 126 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166732682 166732682 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:166732682C>G uc002udk.2 - 28 3999 c.3866G>C c.(3865-3867)TGT>TCT p.C1289S TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1289 TPR 19. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TACCTGGTGACATATGTCAAT 0.289 25 72 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848275 166848275 + Missense_Mutation SNP G T T rs149225252 TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:166848275G>T uc010zcz.1 - 26 5495 c.5477C>A c.(5476-5478)CCG>CAG p.P1826Q NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1837 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ATTGAGAGGCGGTTCAAGCGC 0.448 69 159 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 169985205 169985205 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:169985205C>T uc002ues.2 - 79 14149 c.13936G>A c.(13936-13938)GCA>ACA p.A4646T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4646 Cytoplasmic (Potential). 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) ACAAGATTTGCGGTGTCTTTA 0.398 83 261 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179546138 179546138 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:179546138G>T uc010zfg.1 - 134 29704 c.29480C>A c.(29479-29481)CCC>CAC p.P9827H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6488H|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10754 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) CTTAGGAATGGGCACTGGTAC 0.353 4 47 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179572473 179572473 + Silent SNP C T T rs2742338 TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:179572473C>T uc010zfg.1 - 97 25313 c.25089G>A c.(25087-25089)GTG>GTA p.V8363V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V5024V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9290 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) AGCTGAGCTGCACGTATTCTC 0.463 21 124 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179596699 179596699 + Splice_Site SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:179596699C>A uc010zfg.1 - 55 13396 c.13172_splice c.e55-1 p.E4391_splice TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E1052_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) TAAGGTGACTCTACAGTAAAA 0.443 26 162 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179610753 179610753 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:179610753A>G uc002unb.2 - 46 16598 c.16374T>C c.(16372-16374)TGT>TGC p.C5458C TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 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) CCTCTCCTACACAATTCACAG 0.408 43 323 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196673406 196673406 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:196673406C>A uc002utj.3 - 53 10184 c.10083G>T c.(10081-10083)TTG>TTT p.L3361F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3361 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TAAAACATACCAAACTATCAT 0.318 21 117 --- --- --- --- PASS COQ10B 80219 broad.mit.edu 37 2 198338507 198338507 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:198338507A>G uc002uuh.1 + 5 630 c.576A>G c.(574-576)CTA>CTG p.L192L COQ10B_uc010fsl.1_Silent_p.L164L NM_025147 NP_079423 Q9H8M1 CQ10B_HUMAN coenzyme Q10 homolog B precursor 192 mitochondrial inner membrane 0 Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246) GATCACTTCTACATTCCCAGC 0.274 18 77 --- --- --- --- PASS DYTN 391475 broad.mit.edu 37 2 207572048 207572048 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:207572048G>T uc002vbr.1 - 3 391 c.274C>A c.(274-276)CTT>ATT p.L92I NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 92 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GTCGTGAGAAGGCTCAGAGTG 0.522 3 26 --- --- --- --- PASS SGPP2 130367 broad.mit.edu 37 2 223386573 223386573 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr2:223386573C>T uc010zlo.1 + 3 466 c.466C>T c.(466-468)CTG>TTG p.L156L SGPP2_uc010zlp.1_Silent_p.L28L NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphotase 2 156 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|skin(1) 2 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) GGAAAAGAGACTGATCGCTGA 0.512 20 104 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10452492 10452492 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:10452492C>T uc003bvt.2 - 3 646 c.207G>A c.(205-207)CCG>CCA p.P69P ATP2B2_uc003bvv.2_Silent_p.P69P|ATP2B2_uc003bvw.2_Silent_p.P69P|ATP2B2_uc010hdp.2_Silent_p.P69P|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 69 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GAGCGGTGCCCGGCAAACCTG 0.527 41 310 --- --- --- --- PASS PLCL2 23228 broad.mit.edu 37 3 17052614 17052614 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:17052614G>T uc011awc.1 + 5 1857 c.1752G>T c.(1750-1752)ATG>ATT p.M584I PLCL2_uc011awd.1_Missense_Mutation_p.M466I NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 592 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 GAGCAGAAATGTCTCAGAGGA 0.428 51 71 --- --- --- --- PASS CCR5 1234 broad.mit.edu 37 3 46414954 46414954 + Nonsense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:46414954T>A uc003cpo.3 + 3 683 c.561T>A c.(559-561)TAT>TAA p.Y187* CCR5_uc010hjd.2_Nonsense_Mutation_p.Y187* NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 187 Extracellular (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) ACAGTCAGTATCAATTCTGGA 0.448 185 309 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48629339 48629339 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:48629339C>A uc003ctz.2 - 10 1350 c.1349G>T c.(1348-1350)CGT>CTT p.R450L NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 450 Nonhelical region (NC1).|Fibronectin type-III 3. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCAGTCTCACGCCGCCATTC 0.637 37 61 --- --- --- --- PASS OR5H1 26341 broad.mit.edu 37 3 97852251 97852251 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:97852251C>A uc011bgt.1 + 1 710 c.710C>A c.(709-711)GCC>GAC p.A237D NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GTAAGGAAAGCCTTTTCCACC 0.403 30 193 --- --- --- --- PASS OR5H1 26341 broad.mit.edu 37 3 97852252 97852252 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:97852252C>A uc011bgt.1 + 1 711 c.711C>A c.(709-711)GCC>GCA p.A237A NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TAAGGAAAGCCTTTTCCACCT 0.403 31 196 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107492320 107492320 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:107492320A>G uc010hpr.2 + 11 2079 c.1752A>G c.(1750-1752)CTA>CTG p.L584L BBX_uc003dwk.3_Silent_p.L584L|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.L605L|BBX_uc003dwm.3_Silent_p.L584L|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) AAGATGCACTACCACCCAGCC 0.468 11 119 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130159661 130159661 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:130159661C>T uc010htj.1 + 35 6973 c.6479C>T c.(6478-6480)TCG>TTG p.S2160L COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.S199L NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2160 Nonhelical region. axon guidance|cell adhesion collagen 0 TTTTTATACTCGGTCAGGCGT 0.323 16 30 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739004 138739004 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:138739004C>T uc003esy.1 - 1 765 c.500G>A c.(499-501)CGG>CAG p.R167Q NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 167 breast(1) 1 GGAGTCCATCCGGAGCTCCGG 0.647 14 112 --- --- --- --- PASS PLS1 5357 broad.mit.edu 37 3 142388315 142388315 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:142388315G>C uc010huv.2 + 3 313 c.154G>C c.(154-156)GTG>CTG p.V52L PLS1_uc003euz.2_Missense_Mutation_p.V52L|PLS1_uc003eva.2_Missense_Mutation_p.V52L NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 52 EF-hand 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 TGGCTACAAGGTGCGCGAGAT 0.388 38 405 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164905833 164905833 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:164905833G>T uc003fej.3 - 2 3230 c.2786C>A c.(2785-2787)GCC>GAC p.A929D SLITRK3_uc003fek.2_Missense_Mutation_p.A929D NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 929 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TTTGAGCCTGGCATCCTGCTG 0.493 HNSCC(40;0.11) 157 321 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178916936 178916936 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:178916936G>T uc003fjk.2 + 2 480 c.323G>T c.(322-324)CGT>CTT p.R108L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 108 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R108H(5)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTAGGCAACCGTGAAGAAAAG 0.338 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 40 246 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179478921 179478921 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:179478921C>T uc003fkh.2 + 17 2051 c.1970C>T c.(1969-1971)TCA>TTA p.S657L NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 657 UBA 1. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GATGAGTCATCAGTGATGCAG 0.507 23 272 --- --- --- --- PASS IL1RAP 3556 broad.mit.edu 37 3 190366465 190366465 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:190366465C>T uc003fsm.1 + 12 1890 c.1684C>T c.(1684-1686)CTC>TTC p.L562F IL1RAP_uc010hzg.1_Missense_Mutation_p.L562F|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.L562F|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 562 Cytoplasmic (Potential). inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TGAGCAGGGCCTCTCGTATTC 0.483 13 95 --- --- --- --- PASS MUC20 200958 broad.mit.edu 37 3 195452920 195452920 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr3:195452920C>A uc010hzo.2 + 3 1059 c.933C>A c.(931-933)TCC>TCA p.S311S MUC20_uc010hzp.2_Silent_p.S276S|MUC20_uc011bte.1_RNA NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 482 Involved in oligomerization. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) AGACCCTGTCCACAGCCGGCA 0.617 4 33 --- --- --- --- PASS PDE6B 5158 broad.mit.edu 37 4 658691 658691 + Silent SNP C T T rs149031864 by1000genomes TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:658691C>T uc003gap.2 + 18 2204 c.2151C>T c.(2149-2151)TGC>TGT p.C717C PDE6B_uc003gao.3_Silent_p.C717C|PDE6B_uc011buy.1_Silent_p.C438C|PDE6B_uc011buz.1_Silent_p.C149C NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 717 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 TGACAGCCTGCGACCTGTCTG 0.547 25 157 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36214041 36214041 + Silent SNP T G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:36214041T>G uc003gsq.1 - 5 1448 c.1110A>C c.(1108-1110)ACA>ACC p.T370T ARAP2_uc003gsr.1_Silent_p.T370T NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 370 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TAAAAGAGTTTGTTGCAGTAG 0.313 16 66 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40099026 40099026 + Silent SNP T G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:40099026T>G uc003guy.3 + 3 404 c.66T>G c.(64-66)GTT>GTG p.V22V N4BP2_uc010ifq.2_5'UTR NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 22 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CTAAGGAAGTTGTCGTATCCA 0.438 68 181 --- --- --- --- PASS CHRNA9 55584 broad.mit.edu 37 4 40350899 40350899 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:40350899G>T uc003gva.1 + 4 382 c.366G>T c.(364-366)AAG>AAT p.K122N NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 122 Extracellular (Potential). elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(3)|skin(3)|central_nervous_system(1) 7 Nicotine(DB00184) TGACCTTCAGGGCTGATGATG 0.522 45 178 --- --- --- --- PASS C4orf14 84273 broad.mit.edu 37 4 57843150 57843150 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:57843150T>A uc003hck.2 - 1 677 c.602A>T c.(601-603)TAC>TTC p.Y201F POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 201 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) CAGCTCCAGGTACTGCTCGCG 0.731 8 23 --- --- --- --- PASS TMPRSS11F 389208 broad.mit.edu 37 4 68938144 68938144 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:68938144A>G uc003hdt.1 - 5 460 c.411T>C c.(409-411)GAT>GAC p.D137D LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 137 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GTTCAGCACTATCAGTAGATG 0.318 38 131 --- --- --- --- PASS RUFY3 22902 broad.mit.edu 37 4 71650542 71650542 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:71650542G>T uc003hfq.2 + 10 1612 c.1017G>T c.(1015-1017)GGG>GGT p.G339G RUFY3_uc003hfp.3_Silent_p.G399G|RUFY3_uc011cax.1_Silent_p.G357G|RUFY3_uc003hfr.2_Silent_p.G339G|RUFY3_uc011cay.1_Silent_p.G275G NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 339 Potential. negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) CTGCAGAAGGGCAAGCACTAA 0.323 6 22 --- --- --- --- PASS MMRN1 22915 broad.mit.edu 37 4 90830530 90830530 + Nonsense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:90830530G>T uc003hst.2 + 2 798 c.727G>T c.(727-729)GGA>TGA p.G243* MMRN1_uc010iku.2_Nonsense_Mutation_p.G209*|MMRN1_uc011cds.1_5'UTR NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 243 EMI. 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) CTGGACCGGTGGATCCTGTCC 0.423 19 81 --- --- --- --- PASS NHEDC1 150159 broad.mit.edu 37 4 103866467 103866467 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:103866467T>A uc003hww.2 - 6 658 c.536A>T c.(535-537)CAT>CTT p.H179L NHEDC1_uc003hwu.2_Missense_Mutation_p.H179L|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 179 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) GACCTTCAAATGCCTCAAAGC 0.368 53 170 --- --- --- --- PASS SGMS2 166929 broad.mit.edu 37 4 108816990 108816990 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:108816990C>G uc003hyl.3 + 3 836 c.281C>G c.(280-282)ACC>AGC p.T94S uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.T94S|SGMS2_uc003hyo.2_Missense_Mutation_p.T94S NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 94 Helical; (Potential). sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) GTCTTGACAACCGTCATGATC 0.453 38 184 --- --- --- --- PASS SEC24D 9871 broad.mit.edu 37 4 119652646 119652646 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:119652646T>C uc003ici.3 - 21 2965 c.2693A>G c.(2692-2694)AAG>AGG p.K898R SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.K899R|SEC24D_uc003ick.2_Missense_Mutation_p.K60R NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 898 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 CATTGTACTCTTGACATCTAA 0.338 34 145 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177098242 177098242 + Silent SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:177098242T>A uc003iuj.2 + 29 3756 c.3600T>A c.(3598-3600)CCT>CCA p.P1200P WDR17_uc003iuk.2_Silent_p.P1176P|WDR17_uc003ium.3_Silent_p.P1161P|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.P411P NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1200 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGTCAGTACCTTTAAAAATTG 0.363 26 72 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177138061 177138061 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:177138061G>T uc003iuq.1 - 6 786 c.770C>A c.(769-771)GCA>GAA p.A257E ASB5_uc003iup.1_Missense_Mutation_p.A204E NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 257 ANK 6. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATTGATATCTGCTCCAAATTC 0.408 73 240 --- --- --- --- PASS TLR3 7098 broad.mit.edu 37 4 187004704 187004704 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr4:187004704A>G uc003iyq.2 + 4 1965 c.1864A>G c.(1864-1866)ATA>GTA p.I622V TLR3_uc011ckz.1_Missense_Mutation_p.I345V|TLR3_uc003iyr.2_Missense_Mutation_p.I345V NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 622 LRR 22.|Lumenal (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) GAAGAATCTCATAACATCCGT 0.383 54 174 --- --- --- --- PASS AHRR 57491 broad.mit.edu 37 5 427954 427954 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:427954G>T uc003jav.2 + 9 851 c.807G>T c.(805-807)CTG>CTT p.L269L AHRR_uc003jaw.2_Silent_p.L247L|AHRR_uc010isy.2_Silent_p.L97L|AHRR_uc010isz.2_Silent_p.L247L|AHRR_uc003jax.2_Silent_p.L10L|AHRR_uc003jay.2_Silent_p.L107L NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TAAAATTCCTGTTTGGACAGA 0.562 30 73 --- --- --- --- PASS CLPTM1L 81037 broad.mit.edu 37 5 1339043 1339043 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:1339043G>A uc003jch.2 - 4 577 c.531C>T c.(529-531)AAC>AAT p.N177N CLPTM1L_uc003jcg.2_Silent_p.N44N NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN CLPTM1-like 177 Extracellular (Potential). apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CCGCCATCACGTTCAGCGCCA 0.612 23 37 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26890631 26890631 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:26890631A>G uc003jgs.1 - 8 1465 c.1296T>C c.(1294-1296)GGT>GGC p.G432G CDH9_uc011cnv.1_Silent_p.G25G NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 432 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CTGAGTGAATACCAAAAATAC 0.398 19 256 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35727898 35727898 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:35727898G>T uc003jjo.2 + 21 3147 c.3036G>T c.(3034-3036)TGG>TGT p.W1012C SPEF2_uc003jjp.1_Missense_Mutation_p.W498C NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1012 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGAAGAATGGGTCTATGTGA 0.428 33 226 --- --- --- --- PASS ESM1 11082 broad.mit.edu 37 5 54281101 54281101 + Missense_Mutation SNP C G G rs139399038 TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:54281101C>G uc003jpk.2 - 1 314 c.245G>C c.(244-246)AGG>ACG p.R82T ESM1_uc010ivt.2_Missense_Mutation_p.R82T NM_007036 NP_008967 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 isoform a 82 IGFBP N-terminal. angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) AGGCTGACACCTCAGCCCCGG 0.587 262 648 --- --- --- --- PASS GZMK 3003 broad.mit.edu 37 5 54320153 54320153 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:54320153G>C uc003jpl.1 + 1 47 c.3G>C c.(1-3)ATG>ATC p.M1I NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 1 proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TCTTTAAAATGACTAAGTTTT 0.318 150 329 --- --- --- --- PASS IQGAP2 10788 broad.mit.edu 37 5 75858347 75858347 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:75858347G>T uc003kek.2 + 3 495 c.273G>T c.(271-273)AAG>AAT p.K91N NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 91 CH. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CAGAGAAAAAGATCTATGATG 0.403 36 102 --- --- --- --- PASS CTNNA1 1495 broad.mit.edu 37 5 138260946 138260946 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:138260946C>T uc003ldh.2 + 13 1844 c.1749C>T c.(1747-1749)GTC>GTT p.V583V CTNNA1_uc011cyx.1_Silent_p.V480V|CTNNA1_uc011cyy.1_Silent_p.V460V|CTNNA1_uc003ldi.2_Silent_p.V281V|CTNNA1_uc003ldj.2_Silent_p.V583V|CTNNA1_uc003ldl.2_Silent_p.V213V NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 583 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCTCCACAGTCATGCCACGTT 0.552 19 38 --- --- --- --- PASS SPINK5 11005 broad.mit.edu 37 5 147466029 147466029 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:147466029A>G uc003lox.2 + 5 417 c.344A>G c.(343-345)TAT>TGT p.Y115C SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.Y87C|SPINK5_uc010jgr.2_Missense_Mutation_p.Y96C|SPINK5_uc003low.2_Missense_Mutation_p.Y115C|SPINK5_uc003loy.2_Missense_Mutation_p.Y115C NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 115 Kazal-like 2. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGATTATTATGAAGCTGTT 0.383 71 152 --- --- --- --- PASS SPINK5 11005 broad.mit.edu 37 5 147481344 147481344 + Nonsense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:147481344G>T uc003lox.2 + 15 1376 c.1303G>T c.(1303-1305)GAG>TAG p.E435* SPINK5_uc010jgs.1_Nonsense_Mutation_p.E407*|SPINK5_uc010jgr.2_Nonsense_Mutation_p.E416*|SPINK5_uc003low.2_Nonsense_Mutation_p.E435*|SPINK5_uc003loy.2_Nonsense_Mutation_p.E435* NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 435 Kazal-like 7. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATTTCACAGGAGTTGTGTAG 0.423 38 77 --- --- --- --- PASS NIPAL4 348938 broad.mit.edu 37 5 156899445 156899445 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:156899445G>A uc003lwx.3 + 6 994 c.878G>A c.(877-879)TGC>TAC p.C293Y ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.C274Y NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 293 Helical; (Potential). integral to membrane receptor activity 0 ATCATCATCTGCTCTGTGATC 0.552 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 193 --- --- --- --- PASS FAM153B 202134 broad.mit.edu 37 5 175530260 175530260 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:175530260C>A uc003mdk.2 + 13 752 c.695C>A c.(694-696)TCC>TAC p.S232Y NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN hypothetical protein LOC202134 232 ovary(1) 1 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CAGGAGCTGTCCAGTTACAAC 0.468 35 328 --- --- --- --- PASS FAM153B 202134 broad.mit.edu 37 5 175530261 175530261 + Silent SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:175530261C>G uc003mdk.2 + 13 753 c.696C>G c.(694-696)TCC>TCG p.S232S NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN hypothetical protein LOC202134 232 ovary(1) 1 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) AGGAGCTGTCCAGTTACAACG 0.468 35 336 --- --- --- --- PASS FAM153A 285596 broad.mit.edu 37 5 177161904 177161904 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:177161904G>T uc010jkp.1 - 14 885 c.464C>A c.(463-465)TCC>TAC p.S155Y FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Missense_Mutation_p.S155Y NM_173663 NP_775934 Q9UHL3 F153A_HUMAN hypothetical protein LOC285596 155 skin(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTGTAACTGGACAGCTCCTG 0.463 3 32 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6182228 6182228 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:6182228G>A uc003mwv.2 - 11 1575 c.1452C>T c.(1450-1452)TTC>TTT p.F484F F13A1_uc011dib.1_Silent_p.F421F NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 484 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TACCTTCTTGGAATTTGTAAG 0.383 36 106 --- --- --- --- PASS TBC1D7 51256 broad.mit.edu 37 6 13305333 13305333 + Nonstop_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:13305333T>C uc003naj.2 - 8 973 c.882A>G c.(880-882)TGA>TGG p.*294W TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Nonstop_Mutation_p.*294W|TBC1D7_uc003nal.2_Nonstop_Mutation_p.*294W|TBC1D7_uc003nam.2_Nonstop_Mutation_p.*294W|TBC1D7_uc003nao.2_Nonstop_Mutation_p.*267W|TBC1D7_uc010jpd.2_Nonstop_Mutation_p.*248W NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 294 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) GCGGGTGCGTTCAGCTTGAAT 0.532 25 92 --- --- --- --- PASS KDM1B 221656 broad.mit.edu 37 6 18212751 18212751 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:18212751G>T uc003nco.1 + 11 1365 c.1290G>T c.(1288-1290)CAG>CAT p.Q430H KDM1B_uc003ncn.1_Missense_Mutation_p.Q401H|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 633 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 CTTTACTACAGAAAGGTGCCA 0.413 31 311 --- --- --- --- PASS ZNF184 7738 broad.mit.edu 37 6 27420101 27420101 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:27420101T>C uc003njj.2 - 5 2048 c.1237A>G c.(1237-1239)ACT>GCT p.T413A ZNF184_uc010jqv.2_Missense_Mutation_p.T413A|ZNF184_uc003nji.2_Missense_Mutation_p.T413A NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTTCACCAGTATGAATCATA 0.403 51 194 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39847149 39847149 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:39847149C>T uc003oow.2 + 14 1897 c.1741C>T c.(1741-1743)CTC>TTC p.L581F DAAM2_uc010jxc.2_Missense_Mutation_p.L581F|DAAM2_uc003oox.2_Missense_Mutation_p.L581F NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 581 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GGGCCTGCCCCTCCCTCAGGA 0.507 19 65 --- --- --- --- PASS POU3F2 5454 broad.mit.edu 37 6 99284000 99284000 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:99284000G>T uc003ppe.2 + 1 1421 c.1251G>T c.(1249-1251)GGG>GGT p.G417G NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 417 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) CTCCCGGAGGGACTCTGCCGG 0.617 26 80 --- --- --- --- PASS POPDC3 64208 broad.mit.edu 37 6 105606478 105606478 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:105606478T>A uc003prb.2 - 4 1145 c.743A>T c.(742-744)GAC>GTC p.D248V uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 248 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) ATATACCCTGTCATTCAAGGC 0.398 57 219 --- --- --- --- PASS NR2E1 7101 broad.mit.edu 37 6 108501625 108501625 + Splice_Site SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:108501625T>A uc003psg.2 + 6 1494 c.739_splice c.e6+2 p.G247_splice NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) CTGTATCTGGTAAGAATTGCA 0.358 32 154 --- --- --- --- PASS C6orf170 221322 broad.mit.edu 37 6 121577239 121577239 + Silent SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:121577239T>C uc003pyo.1 - 16 1994 c.1926A>G c.(1924-1926)GCA>GCG p.A642A C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.A161A NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 642 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) CCTTTTTCCATGCCTTTGCTA 0.313 27 96 --- --- --- --- PASS HSF2 3298 broad.mit.edu 37 6 122737378 122737378 + Silent SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:122737378C>G uc003pyu.2 + 5 655 c.468C>G c.(466-468)TCC>TCG p.S156S HSF2_uc003pyt.3_Silent_p.S156S|HSF2_uc003pyv.2_Silent_p.S156S NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 156 Hydrophobic repeat HR-A/B. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) AGAATGAGTCCCTTTGGAAGG 0.338 20 64 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 131971206 131971206 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:131971206G>T uc003qcu.3 + 4 541 c.194G>T c.(193-195)GGA>GTA p.G65V ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.G31V|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.G65V NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 65 Extracellular (Potential).|SMB 1. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TCATTTAGAGGACTGGAGAAC 0.443 56 199 --- --- --- --- PASS STX7 8417 broad.mit.edu 37 6 132785134 132785134 + Nonsense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:132785134G>A uc003qdg.2 - 9 941 c.691C>T c.(691-693)CAG>TAG p.Q231* STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Nonsense_Mutation_p.Q56* NM_003569 NP_003560 O15400 STX7_HUMAN syntaxin 7 231 Cytoplasmic (Potential). intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity 0 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) TAAATTACCTGATAATCTGCT 0.388 61 220 --- --- --- --- PASS MAP7 9053 broad.mit.edu 37 6 136682314 136682314 + Missense_Mutation SNP T G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:136682314T>G uc003qgz.2 - 12 1776 c.1530A>C c.(1528-1530)CAA>CAC p.Q510H MAP7_uc011edf.1_Missense_Mutation_p.Q495H|MAP7_uc011edg.1_Missense_Mutation_p.Q540H|MAP7_uc010kgu.2_Missense_Mutation_p.Q532H|MAP7_uc011edh.1_Missense_Mutation_p.Q495H|MAP7_uc010kgv.2_Missense_Mutation_p.Q532H|MAP7_uc010kgs.2_Missense_Mutation_p.Q364H|MAP7_uc011edi.1_Missense_Mutation_p.Q364H|MAP7_uc010kgq.1_Missense_Mutation_p.Q416H|MAP7_uc003qha.1_Missense_Mutation_p.Q473H NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 510 Potential. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CCTCTCTCTTTTGTCTGGAAA 0.547 17 57 --- --- --- --- PASS NMBR 4829 broad.mit.edu 37 6 142400042 142400042 + Splice_Site SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:142400042T>C uc003qiu.2 - 2 564 c.423_splice c.e2-1 p.R141_splice NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GCTCTGTACCTGGGAAAATGA 0.338 8 92 --- --- --- --- PASS SLC22A2 6582 broad.mit.edu 37 6 160662610 160662610 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr6:160662610C>G uc003qtf.2 - 9 1567 c.1397G>C c.(1396-1398)GGC>GCC p.G466A SLC22A2_uc003qte.1_Missense_Mutation_p.G466A NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 466 Helical; (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GATGTGGACGCCAAGATTCCT 0.453 32 92 --- --- --- --- PASS C7orf28A 51622 broad.mit.edu 37 7 5965287 5965287 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:5965287C>T uc003spf.2 + 15 1508 c.1418C>T c.(1417-1419)ACG>ATG p.T473M NM_015622 NP_056437 P86791 CCZ1_HUMAN hypothetical protein LOC51622 473 lysosomal membrane 0 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15) CTTTGTGCAACGCAGTTCAAC 0.403 39 247 --- --- --- --- PASS DAGLB 221955 broad.mit.edu 37 7 6474584 6474584 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:6474584C>A uc003sqa.2 - 4 657 c.487G>T c.(487-489)GCT>TCT p.A163S DAGLB_uc011jwt.1_5'UTR|DAGLB_uc011jwu.1_Intron|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.A122S|DAGLB_uc011jww.1_Intron NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 163 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) GAATATGGAGCCATTTTCCCC 0.512 58 129 --- --- --- --- PASS PRPS1L1 221823 broad.mit.edu 37 7 18067168 18067168 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:18067168C>A uc003stz.2 - 1 319 c.238G>T c.(238-240)GCT>TCT p.A80S NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 80 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) CTAGCTGAAGCAATCTTGCAG 0.493 148 369 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31692223 31692223 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:31692223G>A uc003tcj.1 + 14 3908 c.2915G>A c.(2914-2916)TGT>TAT p.C972Y CCDC129_uc011kad.1_Missense_Mutation_p.C982Y|CCDC129_uc003tci.1_Missense_Mutation_p.C823Y|CCDC129_uc011kae.1_Missense_Mutation_p.C998Y|CCDC129_uc003tck.1_Missense_Mutation_p.C880Y NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 972 0 CAGACTTCATGTTCTAAAATC 0.512 17 46 --- --- --- --- PASS SFRP4 6424 broad.mit.edu 37 7 37951816 37951816 + Silent SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:37951816T>C uc003tfo.3 - 4 1082 c.696A>G c.(694-696)CGA>CGG p.R232R NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 232 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 GGACTTGAGTTCGAGGGATGG 0.483 52 142 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48335404 48335404 + Silent SNP T G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:48335404T>G uc003toq.2 + 21 9088 c.9063T>G c.(9061-9063)ACT>ACG p.T3021T ABCA13_uc010kys.1_Silent_p.T95T NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3021 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AAAATGCCACTGGCCAGGACT 0.488 96 195 --- --- --- --- PASS PSPH 5723 broad.mit.edu 37 7 56087413 56087413 + Missense_Mutation SNP A G G rs104894036 TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:56087413A>G uc003trg.2 - 4 518 c.155T>C c.(154-156)ATG>ACG p.M52T PSPH_uc003trh.2_Missense_Mutation_p.M52T|PSPH_uc003tri.2_Missense_Mutation_p.M52T|PSPH_uc003trj.2_Missense_Mutation_p.M81T NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 52 M -> T (in PSPHD). L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGCCCCGCCCATGGCTCGCCG 0.612 9 62 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77764482 77764482 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:77764482C>G uc003ugx.2 - 17 3141 c.2887G>C c.(2887-2889)GCA>CCA p.A963P MAGI2_uc003ugy.2_Missense_Mutation_p.A949P|MAGI2_uc010ldx.1_Missense_Mutation_p.A556P NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 963 PDZ 5. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CAGCGATCTGCAGGACTCCCA 0.463 72 104 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88966071 88966071 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:88966071C>A uc011khi.1 + 4 4313 c.3775C>A c.(3775-3777)CAC>AAC p.H1259N NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1259 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TATCCCTGCACACCCCACTTT 0.478 HNSCC(36;0.09) 137 309 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100551426 100551426 + RNA SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:100551426C>T uc003uxk.1 + 1 c.677C>T uc003uxl.1_5'UTR Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. TGACTACAACCACAGACTTTC 0.488 86 144 --- --- --- --- PASS C7orf58 79974 broad.mit.edu 37 7 120911349 120911349 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:120911349G>A uc003vjq.3 + 22 3180 c.2733G>A c.(2731-2733)CAG>CAA p.Q911Q NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 911 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GTGAAGTACAGAACTTATGGA 0.318 35 126 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121612615 121612615 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:121612615G>T uc003vjy.2 + 4 720 c.325G>T c.(325-327)GAC>TAC p.D109Y PTPRZ1_uc003vjz.2_Missense_Mutation_p.D109Y NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 109 Extracellular (Potential).|Alpha-carbonic anhydrase. 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 TCTCACTAATGACTACCGTGT 0.338 37 190 --- --- --- --- PASS FEZF1 389549 broad.mit.edu 37 7 121942911 121942911 + Silent SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:121942911T>A uc003vkd.2 - 3 1085 c.1011A>T c.(1009-1011)ATA>ATT p.I337I FEZF1_uc003vkc.2_Silent_p.I287I|uc010lko.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 337 C2H2-type 3. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 AGCCCGCGTGTATTCGGGTAT 0.408 72 266 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123136839 123136839 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:123136839T>A uc003vkn.2 - 7 1722 c.1145A>T c.(1144-1146)GAA>GTA p.E382V IQUB_uc003vko.2_Missense_Mutation_p.E382V|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.E382V NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 382 ovary(3)|large_intestine(1) 4 TTCTTCTTTTTCTCTTATCTT 0.338 70 110 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126544700 126544700 + Silent SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:126544700A>G uc003vlr.2 - 3 1076 c.765T>C c.(763-765)CGT>CGC p.R255R GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.R255R|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 255 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTCTTGGTTCACGTGGGATTT 0.393 HNSCC(24;0.065) 47 215 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700864 136700864 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:136700864C>A uc003vtf.1 + 4 1875 c.1252C>A c.(1252-1254)CCC>ACC p.P418T CHRM2_uc003vtg.1_Missense_Mutation_p.P418T|CHRM2_uc003vtj.1_Missense_Mutation_p.P418T|CHRM2_uc003vtk.1_Missense_Mutation_p.P418T|CHRM2_uc003vtl.1_Missense_Mutation_p.P418T|CHRM2_uc003vtm.1_Missense_Mutation_p.P418T|CHRM2_uc003vti.1_Missense_Mutation_p.P418T|CHRM2_uc003vto.1_Missense_Mutation_p.P418T|CHRM2_uc003vtn.1_Missense_Mutation_p.P418T|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 418 Extracellular (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) ACCTTGCATCCCCAACACTGT 0.463 116 280 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700865 136700865 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:136700865C>A uc003vtf.1 + 4 1876 c.1253C>A c.(1252-1254)CCC>CAC p.P418H CHRM2_uc003vtg.1_Missense_Mutation_p.P418H|CHRM2_uc003vtj.1_Missense_Mutation_p.P418H|CHRM2_uc003vtk.1_Missense_Mutation_p.P418H|CHRM2_uc003vtl.1_Missense_Mutation_p.P418H|CHRM2_uc003vtm.1_Missense_Mutation_p.P418H|CHRM2_uc003vti.1_Missense_Mutation_p.P418H|CHRM2_uc003vto.1_Missense_Mutation_p.P418H|CHRM2_uc003vtn.1_Missense_Mutation_p.P418H|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 418 Extracellular (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) CCTTGCATCCCCAACACTGTG 0.463 116 280 --- --- --- --- PASS PRSS37 136242 broad.mit.edu 37 7 141536980 141536980 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr7:141536980C>G uc003vws.1 - 4 871 c.499G>C c.(499-501)GAA>CAA p.E167Q PRSS37_uc011krk.1_Missense_Mutation_p.E154Q|PRSS37_uc011krl.1_Missense_Mutation_p.E166Q|PRSS37_uc003vwt.1_Missense_Mutation_p.E154Q NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN protease, serine, 37 precursor 167 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity skin(1) 1 TTTCCTTGTTCTGTTTTTTGG 0.433 47 182 --- --- --- --- PASS ADAM32 203102 broad.mit.edu 37 8 39089565 39089565 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr8:39089565T>A uc003xmt.3 + 15 1790 c.1545T>A c.(1543-1545)TTT>TTA p.F515L ADAM32_uc011lch.1_Missense_Mutation_p.F416L|ADAM32_uc003xmu.3_Missense_Mutation_p.F409L|ADAM32_uc003xmv.2_Intron NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 515 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATGCTCCATTTGCCTGCTATG 0.338 45 113 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48772318 48772318 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr8:48772318C>A uc003xqi.2 - 47 6118 c.6061G>T c.(6061-6063)GGT>TGT p.G2021C PRKDC_uc003xqj.2_Missense_Mutation_p.G2021C|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2021 Cleavage; by caspase-3 (Probable). cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TAGGAAGGACCATCTGAAATA 0.313 NHEJ 36 93 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61765230 61765230 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr8:61765230G>T uc003xue.2 + 30 6545 c.6068G>T c.(6067-6069)AGG>ATG p.R2023M NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2023 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GCCATGTGTAGGCGAGTATGT 0.393 26 69 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70585503 70585503 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr8:70585503C>A uc003xyl.2 - 10 2855 c.2148G>T c.(2146-2148)TGG>TGT p.W716C SLCO5A1_uc010lzb.2_Missense_Mutation_p.W661C|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 716 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATTCCTGTTGCCAGAGCATGC 0.478 30 331 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763271 77763271 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr8:77763271G>T uc003yav.2 + 10 4366 c.3979G>T c.(3979-3981)GAC>TAC p.D1327Y ZFHX4_uc003yau.1_Missense_Mutation_p.D1372Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1327Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1327 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) GAAAATCCCCGACACACTGCA 0.423 HNSCC(33;0.089) 16 78 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77768135 77768135 + Missense_Mutation SNP A C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr8:77768135A>C uc003yav.2 + 10 9230 c.8843A>C c.(8842-8844)AAG>ACG p.K2948T ZFHX4_uc003yau.1_Missense_Mutation_p.K2993T|ZFHX4_uc003yaw.1_Missense_Mutation_p.K2948T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2948 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) AACATAGGGAAGCCTTTCATG 0.468 HNSCC(33;0.089) 9 48 --- --- --- --- PASS AGTPBP1 23287 broad.mit.edu 37 9 88203244 88203244 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr9:88203244T>C uc011ltd.1 - 20 2905 c.2872A>G c.(2872-2874)ATG>GTG p.M958V AGTPBP1_uc004aod.3_Missense_Mutation_p.M584V|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.M918V|AGTPBP1_uc011lte.1_Missense_Mutation_p.M970V NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 958 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GGATTTAACATAGGGACAATT 0.343 27 86 --- --- --- --- PASS PTGR1 22949 broad.mit.edu 37 9 114325433 114325433 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr9:114325433C>A uc004bfh.2 - 10 1061 c.958G>T c.(958-960)GAT>TAT p.D320Y ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Intron|PTGR1_uc004bfi.3_Missense_Mutation_p.D320Y|PTGR1_uc004bfj.3_3'UTR NM_012212 NP_036344 Q14914 PTGR1_HUMAN prostaglandin reductase 1 isoform 1 320 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding 0 CCCAAATTATCTCCTTTCAGC 0.353 35 105 --- --- --- --- PASS TRAF1 7185 broad.mit.edu 37 9 123675887 123675887 + Nonsense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr9:123675887C>A uc004bku.1 - 5 996 c.424G>T c.(424-426)GAG>TAG p.E142* TRAF1_uc011lyg.1_Nonsense_Mutation_p.E20*|TRAF1_uc010mvl.1_Nonsense_Mutation_p.E142* NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 142 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding skin(2)|ovary(1) 3 AGGTTCTGCTCCAGGGCCATG 0.652 OREG0005350 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=TRAF1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 21 72 --- --- --- --- PASS OR1J4 26219 broad.mit.edu 37 9 125282113 125282113 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr9:125282113A>G uc011lyw.1 + 1 694 c.694A>G c.(694-696)AAG>GAG p.K232E NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCATCTACTAAGGGCATCTT 0.463 49 143 --- --- --- --- PASS PTGES2 80142 broad.mit.edu 37 9 130889721 130889721 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr9:130889721C>A uc004bti.2 - 1 754 c.276G>T c.(274-276)GCG>GCT p.A92A PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Intron|PTGES2_uc004btl.2_Intron|PTGES2_uc004btm.2_Intron|LOC389791_uc004btn.2_5'Flank NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 92 Glutaredoxin.|Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 GCCTTACCTGCGCGGCTGAGC 0.527 3 15 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137717724 137717724 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr9:137717724G>T uc004cfe.2 + 63 5423 c.5041G>T c.(5041-5043)GTC>TTC p.V1681F uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1681 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GTCGACATGCGTCTTCCCTGA 0.577 12 51 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26830517 26830517 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:26830517C>A uc001iss.2 + 11 1372 c.1051C>A c.(1051-1053)CGA>AGA p.R351R APBB1IP_uc009xks.1_Silent_p.R351R NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 351 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 TCAGACATCTCGAGATCTGGC 0.338 14 46 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27382415 27382415 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:27382415G>C uc001ith.2 - 3 566 c.394C>G c.(394-396)CTG>GTG p.L132V ANKRD26_uc009xku.1_Missense_Mutation_p.L132V NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 132 ANK 3. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TGTTCTAGCAGAATAGTTGCA 0.418 13 131 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50952155 50952155 + Silent SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:50952155T>A uc001jie.2 - 14 1888 c.1746A>T c.(1744-1746)GTA>GTT p.V582V OGDHL_uc009xog.2_Silent_p.V609V|OGDHL_uc010qgt.1_Silent_p.V525V|OGDHL_uc010qgu.1_Silent_p.V373V|OGDHL_uc009xoh.2_Silent_p.V373V NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 582 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GCTCCCCATCTACGTTGAAGA 0.627 16 37 --- --- --- --- PASS ANXA7 310 broad.mit.edu 37 10 75147502 75147502 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:75147502C>T uc001jtz.2 - 8 717 c.644G>A c.(643-645)CGT>CAT p.R215H ANXA7_uc001jua.2_Missense_Mutation_p.R193H|ANXA7_uc001jub.2_Missense_Mutation_p.R153H|ANXA7_uc010qki.1_Missense_Mutation_p.R103H|ANXA7_uc009xre.2_Missense_Mutation_p.R122H|ANXA7_uc009xrf.1_Missense_Mutation_p.R135H NM_004034 NP_004025 P20073 ANXA7_HUMAN annexin VII isoform 2 215 Annexin 1. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) ATCATTGGAACGGTTGGCCAC 0.458 32 178 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87966375 87966375 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:87966375G>A uc001kdl.1 - 3 367 c.266C>T c.(265-267)GCC>GTC p.A89V GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 89 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CGTGACCAAGGCCAAAATCCC 0.592 Multiple Myeloma(13;0.14) 10 46 --- --- --- --- PASS C10orf4 118924 broad.mit.edu 37 10 95454663 95454663 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:95454663T>C uc001kiz.1 - 5 449 c.251A>G c.(250-252)TAT>TGT p.Y84C C10orf4_uc001kiv.1_RNA|C10orf4_uc001kja.1_Missense_Mutation_p.Y84C|C10orf4_uc001kjb.1_Missense_Mutation_p.Y84C|C10orf4_uc009xuh.1_Missense_Mutation_p.Y85C NM_145246 NP_660289 Q70Z53 F10C1_HUMAN FRA10AC1 protein 84 nucleus protein binding 0 Colorectal(252;0.122) GTATAAAATATAGTCATTTAC 0.328 83 304 --- --- --- --- PASS ALDH18A1 5832 broad.mit.edu 37 10 97376254 97376254 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:97376254C>G uc001kkz.2 - 13 1827 c.1585G>C c.(1585-1587)GTC>CTC p.V529L ALDH18A1_uc001kky.2_Missense_Mutation_p.V527L|ALDH18A1_uc010qog.1_Missense_Mutation_p.V418L|ALDH18A1_uc010qoh.1_Missense_Mutation_p.V317L NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 529 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) GCCTCCTTGACTCCATGGATT 0.552 4 11 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108924028 108924028 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:108924028G>T uc001kym.2 - 1 265 c.257C>A c.(256-258)GCG>GAG p.A86E SORCS1_uc001kyl.2_Missense_Mutation_p.A86E|SORCS1_uc009xxs.2_Missense_Mutation_p.A86E|SORCS1_uc001kyn.1_Missense_Mutation_p.A86E|SORCS1_uc001kyo.2_Missense_Mutation_p.A86E NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 86 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CAGGGATAGCGCTCGGTCCCC 0.711 9 11 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 116930885 116930885 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:116930885T>C uc001lcg.2 + 8 1569 c.1183T>C c.(1183-1185)TGG>CGG p.W395R ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.W395R|ATRNL1_uc009xyq.2_Silent_p.H365H NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 395 Kelch 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TAGTCAGTCATGGAGTACAAA 0.373 84 234 --- --- --- --- PASS MMP21 118856 broad.mit.edu 37 10 127464327 127464327 + Missense_Mutation SNP T G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr10:127464327T>G uc001liu.2 - 1 64 c.64A>C c.(64-66)ACC>CCC p.T22P NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 22 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TCGGGCTGGGTGGGCCAGGGA 0.682 6 33 --- --- --- --- PASS SYT9 143425 broad.mit.edu 37 11 7334800 7334800 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:7334800G>A uc001mfe.2 + 3 909 c.672G>A c.(670-672)CTG>CTA p.L224L SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 224 Cytoplasmic (Potential).|C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GTGGGAAACTGAACTTCATTT 0.413 28 143 --- --- --- --- PASS IGSF22 283284 broad.mit.edu 37 11 18743146 18743146 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:18743146C>T uc009yht.2 - 4 504 c.314G>A c.(313-315)GGC>GAC p.G105D IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 105 Ig-like 1. ovary(4)|large_intestine(2)|kidney(1) 7 GATGGGGATGCCGCTCTCCCT 0.592 OREG0020822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 259 --- --- --- --- PASS MYBPC3 4607 broad.mit.edu 37 11 47361293 47361293 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:47361293A>G uc001nfa.3 - 20 2031 c.1976T>C c.(1975-1977)ATT>ACT p.I659T MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 658 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) TACAACCACAATGGTGTCTGG 0.552 18 43 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432897 55432897 + Silent SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:55432897C>G uc001nht.3 + 3 520 c.255C>G c.(253-255)TCC>TCG p.S85S OR4C6_uc010rik.1_Silent_p.S85S NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ACACCCTCTCCAAGAGCACTA 0.488 59 204 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735331 55735331 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:55735331C>T uc010rit.1 - 1 609 c.609G>A c.(607-609)CTG>CTA p.L203L NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CAACAATCAACAGAAATGGCA 0.423 23 62 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57077504 57077504 + Missense_Mutation SNP A C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:57077504A>C uc001njr.2 - 5 2993 c.2681T>G c.(2680-2682)CTG>CGG p.L894R TNKS1BP1_uc001njs.2_Missense_Mutation_p.L894R|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.L345R NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 894 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) ATAAGCACCCAGAGAATCTCT 0.537 108 315 --- --- --- --- PASS OR4D9 390199 broad.mit.edu 37 11 59283148 59283148 + Missense_Mutation SNP A T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:59283148A>T uc010rkv.1 + 1 763 c.763A>T c.(763-765)ATC>TTC p.I255F NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CGTGCCCTGCATCTATGTCTA 0.547 100 347 --- --- --- --- PASS SLC22A9 114571 broad.mit.edu 37 11 63176158 63176158 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:63176158A>G uc001nww.2 + 9 1676 c.1408A>G c.(1408-1410)ATG>GTG p.M470V SLC22A9_uc001nwx.2_Intron NM_080866 NP_543142 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion/cation 470 Helical; (Potential). transmembrane transport integral to membrane breast(2)|large_intestine(1) 3 GGCAAGAGCTATGGGGATCAA 0.438 37 85 --- --- --- --- PASS SNX15 29907 broad.mit.edu 37 11 64806067 64806067 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:64806067C>G uc001oci.3 + 10 1341 c.688C>G c.(688-690)CAT>GAT p.H230D SNX15_uc009ypy.2_Missense_Mutation_p.H230D|SNX15_uc001ocj.2_Missense_Mutation_p.H230D|SNX15_uc001ock.2_Intron|SAC3D1_uc010rnv.1_5'Flank|SAC3D1_uc001ocm.2_5'Flank NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN sorting nexin 15 isoform A 230 cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity ovary(1) 1 CAGCCCCACCCATGTGGCTGA 0.632 8 34 --- --- --- --- PASS GAL3ST3 89792 broad.mit.edu 37 11 65812855 65812855 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:65812855G>T uc001ogv.2 - 1 192 c.32C>A c.(31-33)GCC>GAC p.A11D GAL3ST3_uc001ogw.2_Missense_Mutation_p.A11D NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 11 Cytoplasmic (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 CATCTTGGTGGCCTGCTGCAG 0.637 OREG0021093 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 46 --- --- --- --- PASS CHORDC1 26973 broad.mit.edu 37 11 89944446 89944446 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:89944446C>A uc001pdg.2 - 5 780 c.370G>T c.(370-372)GCC>TCC p.A124S CHORDC1_uc009yvz.2_Missense_Mutation_p.A105S NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 124 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) TTTAGGGAGGCAGATATTTTT 0.279 28 196 --- --- --- --- PASS HTR3B 9177 broad.mit.edu 37 11 113780125 113780125 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:113780125C>A uc001pok.2 + 2 228 c.161C>A c.(160-162)ACC>AAC p.T54N HTR3B_uc001pol.2_Missense_Mutation_p.T43N NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 54 Extracellular (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) TACAACTGGACCAAGGCCACC 0.448 35 148 --- --- --- --- PASS HTR3B 9177 broad.mit.edu 37 11 113780126 113780126 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:113780126C>A uc001pok.2 + 2 229 c.162C>A c.(160-162)ACC>ACA p.T54T HTR3B_uc001pol.2_Silent_p.T43T NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 54 Extracellular (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) ACAACTGGACCAAGGCCACCA 0.443 36 149 --- --- --- --- PASS GRAMD1B 57476 broad.mit.edu 37 11 123476080 123476080 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:123476080C>G uc001pyx.2 + 9 1117 c.788C>G c.(787-789)TCC>TGC p.S263C GRAMD1B_uc001pyw.2_Missense_Mutation_p.S270C|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S223C|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S223C|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S259C|GRAMD1B_uc001pyy.2_5'Flank NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 263 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) GACAGCTCATCCAAGAGCAGC 0.517 7 80 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294351 124294351 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:124294351G>T uc010sak.1 - 1 417 c.417C>A c.(415-417)GTC>GTA p.V139V NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 139 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCAGAAAGCAGACCCTTGGGG 0.517 30 104 --- --- --- --- PASS KCNJ5 3762 broad.mit.edu 37 11 128786380 128786380 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr11:128786380C>T uc001qet.2 + 3 1328 c.1014C>T c.(1012-1014)ACC>ACT p.T338T KCNJ5_uc009zck.2_Silent_p.T338T|KCNJ5_uc001qew.2_Silent_p.T338T NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 338 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CAGTCCTCACCTTGGAAAAGG 0.537 54 165 --- --- --- --- PASS LDHB 3945 broad.mit.edu 37 12 21796970 21796970 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:21796970C>G uc001rfc.2 - 3 338 c.320G>C c.(319-321)CGG>CCG p.R107P LDHB_uc001rfd.2_Missense_Mutation_p.R107P|LDHB_uc001rfe.2_Missense_Mutation_p.R107P NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 107 Substrate. R -> W (in GUA1; LDHB deficiency; inactive). glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) CAGATTGAGCCGACTCTCCCC 0.403 33 99 --- --- --- --- PASS RASSF8 11228 broad.mit.edu 37 12 26217646 26217646 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:26217646C>T uc001rgx.2 + 3 540 c.319C>T c.(319-321)CCC>TCC p.P107S RASSF8_uc001rgy.2_Missense_Mutation_p.P107S|RASSF8_uc001rgz.2_Missense_Mutation_p.P107S|RASSF8_uc009zjd.1_Missense_Mutation_p.P107S|RASSF8_uc009zje.1_Missense_Mutation_p.P107S NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 107 signal transduction 0 Colorectal(261;0.0847) GCAGAGTCTGCCCCCCTTAGC 0.478 6 226 --- --- --- --- PASS SLC11A2 4891 broad.mit.edu 37 12 51386099 51386099 + Silent SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:51386099T>C uc001rxe.3 - 13 1318 c.1221A>G c.(1219-1221)TCA>TCG p.S407S SLC11A2_uc001rxd.3_Silent_p.S256S|SLC11A2_uc001rxc.3_Silent_p.S407S|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Silent_p.S20S|SLC11A2_uc010smx.1_Silent_p.S403S|SLC11A2_uc001rxh.1_Silent_p.S407S|SLC11A2_uc001rxj.1_Silent_p.S407S|SLC11A2_uc001rxi.2_Silent_p.S407S|SLC11A2_uc001rxk.1_Silent_p.S436S|SLC11A2_uc010smy.1_Silent_p.S370S NM_000617 NP_000608 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled 407 Cytoplasmic (Potential). activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity large_intestine(1) 1 GGGCAAAGCGTGACCACTTTA 0.473 25 101 --- --- --- --- PASS KRT71 112802 broad.mit.edu 37 12 52946483 52946483 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:52946483G>A uc001sao.2 - 1 449 c.379C>T c.(379-381)CGT>TGT p.R127C NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 127 Head. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) TCCTGGGCACGCACTTTCTGG 0.592 26 123 --- --- --- --- PASS CALCOCO1 57658 broad.mit.edu 37 12 54118511 54118511 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:54118511C>A uc001sef.2 - 3 321 c.177G>T c.(175-177)CGG>CGT p.R59R CALCOCO1_uc010som.1_Silent_p.R59R|CALCOCO1_uc010son.1_Intron|CALCOCO1_uc001seh.2_Silent_p.R59R|CALCOCO1_uc009znd.2_Silent_p.R59R|CALCOCO1_uc001seg.2_5'UTR|CALCOCO1_uc010soo.1_Silent_p.R59R NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 59 N-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 TGTGGTAATCCCGAACACAGG 0.498 7 42 --- --- --- --- PASS GLI1 2735 broad.mit.edu 37 12 57864530 57864530 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:57864530G>T uc001snx.2 + 12 2085 c.2007G>T c.(2005-2007)GTG>GTT p.V669V GLI1_uc009zpq.2_Silent_p.V541V NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 669 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CACCCACTGTGGCAGGGGGAG 0.612 26 57 --- --- --- --- PASS MBD6 114785 broad.mit.edu 37 12 57921292 57921292 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:57921292C>T uc001soj.1 + 8 2309 c.2085C>T c.(2083-2085)CCC>CCT p.P695P MBD6_uc001sok.1_Silent_p.P562P|MBD6_uc001sol.1_RNA NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 695 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 TTTCTTAGCCCTGTGTCCTGA 0.353 51 147 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78225350 78225350 + Missense_Mutation SNP T G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:78225350T>G uc001syp.2 + 1 282 c.109T>G c.(109-111)TGT>GGT p.C37G NAV3_uc001syo.2_Missense_Mutation_p.C37G NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 37 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTCACAGCACTGTTCTTCAAG 0.473 HNSCC(70;0.22) 67 227 --- --- --- --- PASS NR1H4 9971 broad.mit.edu 37 12 100887129 100887129 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:100887129C>A uc001thq.1 + 4 543 c.28C>A c.(28-30)CAT>AAT p.H10N NR1H4_uc001thp.1_Missense_Mutation_p.H10N|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.H10N|NR1H4_uc010svk.1_Missense_Mutation_p.H10N NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 Error:Variant_position_missing_in_Q96RI1_after_alignment bile acid metabolic process|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|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TCTCATTGAACATTCCCATTT 0.289 4 31 --- --- --- --- PASS ASCL4 121549 broad.mit.edu 37 12 108169075 108169075 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:108169075T>C uc001tmr.2 + 1 914 c.83T>C c.(82-84)CTG>CCG p.L28P NM_203436 NP_982260 Q6XD76 ASCL4_HUMAN achaete-scute complex-like 4 27 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1) 1 CCGGGGACCCTGCCCGGACTC 0.711 30 108 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109696835 109696835 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr12:109696835G>T uc001tob.2 + 47 6537 c.6418G>T c.(6418-6420)GCC>TCC p.A2140S ACACB_uc001toc.2_Missense_Mutation_p.A2140S|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.A806S NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2140 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) AACCGCCCAGGCCGTCAAGGA 0.562 65 280 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23914497 23914497 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr13:23914497C>G uc001uon.2 - 10 4107 c.3518G>C c.(3517-3519)TGG>TCG p.W1173S SACS_uc001uoo.2_Missense_Mutation_p.W1026S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1173 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATCTCCTTTCCAGACCAAAGA 0.408 15 81 --- --- --- --- PASS SLC7A1 6541 broad.mit.edu 37 13 30091895 30091895 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr13:30091895T>C uc001uso.2 - 10 1712 c.1325A>G c.(1324-1326)CAG>CGG p.Q442R NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 442 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ACTGGCCATCTGGTATACCAG 0.502 15 135 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975752 44975752 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr14:44975752G>A uc001wvn.2 - 1 748 c.439C>T c.(439-441)CCT>TCT p.P147S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 147 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TTTTCTACAGGGGGGATGTTC 0.413 97 276 --- --- --- --- PASS KIAA0831 22863 broad.mit.edu 37 14 55848689 55848689 + Nonsense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr14:55848689G>A uc001xbx.1 - 6 904 c.868C>T c.(868-870)CAG>TAG p.Q290* FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.Q177* NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 290 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 CCAGGCCCCTGGGTTGTTTTC 0.373 45 90 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64430698 64430698 + Missense_Mutation SNP A T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr14:64430698A>T uc001xgm.2 + 10 1200 c.970A>T c.(970-972)ACC>TCC p.T324S SYNE2_uc001xgl.2_Missense_Mutation_p.T324S NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 324 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGAGAATGATACCTACTTTAA 0.323 7 23 --- --- --- --- PASS FAM161B 145483 broad.mit.edu 37 14 74409247 74409247 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr14:74409247G>A uc001xpd.1 - 4 1203 c.1097C>T c.(1096-1098)CCT>CTT p.P366L NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 ATTCACCCGAGGCTGGAATCT 0.552 41 226 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105412026 105412026 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr14:105412026G>A uc010axc.1 - 7 9882 c.9762C>T c.(9760-9762)GAC>GAT p.D3254D AHNAK2_uc001ypx.2_Silent_p.D3154D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3254 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) GGCCTTTCAGGTCCAGCTTGG 0.607 9 139 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105412521 105412521 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr14:105412521G>A uc010axc.1 - 7 9387 c.9267C>T c.(9265-9267)GAC>GAT p.D3089D AHNAK2_uc001ypx.2_Silent_p.D2989D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3089 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) GGCCTTTCAGGTCCAGCTTGG 0.612 5 68 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33922213 33922213 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:33922213T>A uc001zhi.2 + 22 2822 c.2752T>A c.(2752-2754)TAT>AAT p.Y918N RYR3_uc010bar.2_Missense_Mutation_p.Y918N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 918 4 X approximate repeats.|1.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGAGAAGAACTATAACCTGCA 0.343 11 23 --- --- --- --- PASS SCG3 29106 broad.mit.edu 37 15 51973965 51973965 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:51973965G>C uc002abh.2 + 1 421 c.13G>C c.(13-15)GGG>CGG p.G5R SCG3_uc010ufz.1_5'UTR NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 5 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) GGGGTTCCTCGGGACCGGCAC 0.522 14 56 --- --- --- --- PASS LIPC 3990 broad.mit.edu 37 15 58830668 58830668 + Silent SNP C T T rs146362585 by1000genomes TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:58830668C>T uc010bga.1 + 4 833 c.225C>T c.(223-225)TGC>TGT p.C75C LIPC_uc010bfz.1_Silent_p.C75C|LIPC_uc002afa.1_Silent_p.C75C|LIPC_uc010bgb.1_Intron|LIPC_uc010ugy.1_Silent_p.C75C NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 75 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TACAGGAGTGCGGCTTCAACT 0.473 5 228 --- --- --- --- PASS DPP8 54878 broad.mit.edu 37 15 65759121 65759121 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:65759121T>A uc002aov.2 - 14 3346 c.1768A>T c.(1768-1770)AAC>TAC p.N590Y DPP8_uc002aow.2_Missense_Mutation_p.N590Y|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.N574Y|DPP8_uc002aoy.2_Missense_Mutation_p.N590Y|DPP8_uc002aoz.2_Missense_Mutation_p.N574Y|DPP8_uc010bhj.2_Missense_Mutation_p.N590Y|DPP8_uc002apa.2_Missense_Mutation_p.N487Y|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.N159Y NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 590 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 TTCTTCTGGTTACTATACTTA 0.383 27 96 --- --- --- --- PASS UACA 55075 broad.mit.edu 37 15 70961109 70961109 + Silent SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:70961109T>C uc002asr.2 - 16 2018 c.1914A>G c.(1912-1914)TCA>TCG p.S638S UACA_uc010uke.1_Silent_p.S529S|UACA_uc002asq.2_Silent_p.S625S|UACA_uc010bin.1_Silent_p.S613S NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 638 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 CATTTGATAATGAGCTCTTCA 0.358 47 164 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86124328 86124328 + Missense_Mutation SNP A C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:86124328A>C uc002blv.1 + 7 3199 c.3029A>C c.(3028-3030)CAA>CCA p.Q1010P AKAP13_uc002blt.1_Missense_Mutation_p.Q1010P|AKAP13_uc002blu.1_Missense_Mutation_p.Q1010P|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1010 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CTGCTGACTCAAGGTGGGGCT 0.562 35 109 --- --- --- --- PASS SV2B 9899 broad.mit.edu 37 15 91824968 91824968 + Missense_Mutation SNP A T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:91824968A>T uc002bqv.2 + 9 1775 c.1384A>T c.(1384-1386)ATG>TTG p.M462L SV2B_uc010uqv.1_Missense_Mutation_p.M311L|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 462 Extracellular (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GTTCACAAGAATGTACTTTAA 0.373 27 159 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346591 102346591 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr15:102346591G>T uc010utr.1 + 1 669 c.669G>T c.(667-669)GTG>GTT p.V223V NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTATTTTGGTGACTGTTCAGA 0.363 71 291 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24902389 24902389 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr16:24902389G>A uc002dmu.2 + 9 1096 c.864G>A c.(862-864)ACG>ACA p.T288T SLC5A11_uc002dms.2_Silent_p.T224T|SLC5A11_uc010vcd.1_Silent_p.T253T|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Silent_p.T218T|SLC5A11_uc010bxt.2_Silent_p.T224T NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 288 Helical; (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) ACTGGTGCACGGATCAGGTAC 0.507 46 188 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48134806 48134806 + Silent SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr16:48134806G>C uc002efc.1 - 21 3361 c.3015C>G c.(3013-3015)GGC>GGG p.G1005G ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 1005 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TCTCCTTCTTGCCATAGGCGT 0.612 21 42 --- --- --- --- PASS KIAA0174 9798 broad.mit.edu 37 16 71958710 71958710 + Silent SNP A T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr16:71958710A>T uc002fbj.1 + 11 1213 c.930A>T c.(928-930)GCA>GCT p.A310A KIAA0174_uc010cgh.1_Silent_p.A310A|KIAA0174_uc002fbk.1_Missense_Mutation_p.H296L|KIAA0174_uc002fbm.1_Silent_p.A297A|KIAA0174_uc002fbl.1_Silent_p.A266A|KIAA0174_uc002fbn.1_Silent_p.A149A|KIAA0174_uc010cgi.1_Silent_p.A68A|KIAA0174_uc010cgj.1_Intron|KIAA0174_uc010vml.1_RNA P53990 IST1_HUMAN SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725; 295 Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding ovary(1) 1 TCTCTTCTGCACAGATTGTTG 0.418 26 82 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C G G rs28934576 by1000genomes TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr17:7577120C>G uc002gim.2 - 8 1012 c.818G>C c.(817-819)CGT>CCT p.R273P TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141P|TP53_uc010cng.1_Missense_Mutation_p.R141P|TP53_uc002gii.1_Missense_Mutation_p.R141P|TP53_uc010cnh.1_Missense_Mutation_p.R273P|TP53_uc010cni.1_Missense_Mutation_p.R273P|TP53_uc002gij.2_Missense_Mutation_p.R273P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 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) 39 24 --- --- --- --- PASS C17orf68 80169 broad.mit.edu 37 17 8141724 8141724 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr17:8141724C>T uc002gkq.3 - 3 480 c.421G>A c.(421-423)GTC>ATC p.V141I C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 141 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 CAGCTCAGGACGCCAGTGTTA 0.488 108 134 --- --- --- --- PASS TNFRSF13B 23495 broad.mit.edu 37 17 16855826 16855826 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr17:16855826C>A uc002gqs.1 - 2 146 c.133G>T c.(133-135)GGT>TGT p.G45C TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.G45C NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 45 TNFR-Cys 1.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 ATGCAGGTACCCAGCAGAGGA 0.602 IgA_Deficiency_Selective 41 41 --- --- --- --- PASS TNFRSF13B 23495 broad.mit.edu 37 17 16855827 16855827 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr17:16855827C>A uc002gqs.1 - 2 145 c.132G>T c.(130-132)CTG>CTT p.L44L TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron|TNFRSF13B_uc010vwu.1_Silent_p.L44L NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 44 TNFR-Cys 1.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 TGCAGGTACCCAGCAGAGGAT 0.607 IgA_Deficiency_Selective 41 41 --- --- --- --- PASS C17orf66 256957 broad.mit.edu 37 17 34186068 34186068 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr17:34186068G>C uc002hke.1 - 9 912 c.763C>G c.(763-765)CAA>GAA p.Q255E C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q215E|C17orf66_uc010wcm.1_Missense_Mutation_p.Q221E NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 255 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TCCCCGACTTGAGTCCTCTGT 0.443 55 63 --- --- --- --- PASS MED24 9862 broad.mit.edu 37 17 38192031 38192031 + Silent SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr17:38192031C>T uc002htt.2 - 5 583 c.270G>A c.(268-270)CGG>CGA p.R90R MED24_uc010wes.1_5'Flank|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Silent_p.R115R|MED24_uc002htu.2_Silent_p.R77R|MED24_uc010cwn.2_Silent_p.R77R|MED24_uc010weu.1_Intron|MED24_uc010wev.1_Silent_p.R40R|MED24_uc010wew.1_Silent_p.R19R|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Silent_p.R40R|MED24_uc010wfb.1_Silent_p.R102R|MED24_uc010wfc.1_Silent_p.R27R NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 90 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) CACACAGGTCCCGAGAAAAGT 0.532 34 48 --- --- --- --- PASS GPR142 350383 broad.mit.edu 37 17 72363714 72363714 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr17:72363714G>T uc010wqy.1 + 1 70 c.70G>T c.(70-72)GCT>TCT p.A24S GPR142_uc010wqx.1_5'UTR NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 24 Extracellular (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGACATCACTGCTGTCCTGGG 0.493 57 79 --- --- --- --- PASS LRRC30 339291 broad.mit.edu 37 18 7231835 7231835 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr18:7231835C>A uc010wzk.1 + 1 699 c.699C>A c.(697-699)AGC>AGA p.S233R NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 233 LRR 8. ovary(1)|liver(1) 2 TGGTCACCAGCCTGGAGCTGC 0.577 46 92 --- --- --- --- PASS LRRC30 339291 broad.mit.edu 37 18 7231836 7231836 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr18:7231836C>A uc010wzk.1 + 1 700 c.700C>A c.(700-702)CTG>ATG p.L234M NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 234 LRR 8. ovary(1)|liver(1) 2 GGTCACCAGCCTGGAGCTGCT 0.577 45 93 --- --- --- --- PASS RALBP1 10928 broad.mit.edu 37 18 9535926 9535926 + Silent SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr18:9535926G>A uc002kob.2 + 10 2182 c.1959G>A c.(1957-1959)ACG>ACA p.T653T RALBP1_uc002koc.2_Silent_p.T653T NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 653 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 GGAAGGAGACGTCCATCTGAG 0.622 9 17 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50278510 50278510 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr18:50278510G>T uc002lfe.1 + 2 765 c.178G>T c.(178-180)GAC>TAC p.D60Y DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 60 Extracellular (Potential).|Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGTCCTCCTCGACTGCTCCGC 0.507 3 87 --- --- --- --- PASS SERPINB12 89777 broad.mit.edu 37 18 61232707 61232707 + Silent SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr18:61232707G>C uc010xen.1 + 6 675 c.675G>C c.(673-675)ACG>ACC p.T225T SERPINB12_uc010xeo.1_Silent_p.T245T NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 225 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 AGATGATGACGCAAAAAGGCC 0.488 47 161 --- --- --- --- PASS TMX3 54495 broad.mit.edu 37 18 66344201 66344201 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr18:66344201G>A uc002lkf.2 - 16 1469 c.1334C>T c.(1333-1335)CCC>CTC p.P445L TMX3_uc010xez.1_Missense_Mutation_p.P304L NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN thioredoxin domain containing 10 precursor 445 Cytoplasmic (Potential). cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity skin(1) 1 TACATCCTTGGGCTCCTGCAC 0.363 26 192 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72345210 72345210 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr18:72345210C>A uc002llw.2 + 1 2292 c.2235C>A c.(2233-2235)AGC>AGA p.S745R ZNF407_uc010xfc.1_Missense_Mutation_p.S745R|ZNF407_uc010dqu.1_Missense_Mutation_p.S745R|ZNF407_uc002llu.2_Missense_Mutation_p.S744R NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 745 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ATTCATTGAGCAAAGAAGGAA 0.318 12 76 --- --- --- --- PASS MIER2 54531 broad.mit.edu 37 19 326584 326584 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:326584C>G uc002lok.1 - 6 517 c.508G>C c.(508-510)GAT>CAT p.D170H NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGTCTTCATCAGCCAGGAAA 0.562 3 152 --- --- --- --- PASS C19orf35 374872 broad.mit.edu 37 19 2278808 2278808 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:2278808G>T uc002lvn.2 - 3 487 c.387C>A c.(385-387)CAC>CAA p.H129Q SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN hypothetical protein LOC374872 129 pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCGGGCTGTGCAGATCGC 0.701 7 13 --- --- --- --- PASS SAFB2 9667 broad.mit.edu 37 19 5587258 5587258 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:5587258T>A uc002mcd.2 - 21 3070 c.2858A>T c.(2857-2859)TAC>TTC p.Y953F NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 953 Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TGGGACTTAGTAGCGGCGGGT 0.483 12 57 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9067655 9067655 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:9067655C>A uc002mkp.2 - 3 19995 c.19791G>T c.(19789-19791)GTG>GTT p.V6597V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6599 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 TGGTGGTCCCCACATTGGTTA 0.438 77 253 --- --- --- --- PASS ASNA1 439 broad.mit.edu 37 19 12858298 12858298 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:12858298G>T uc002muv.2 + 6 821 c.807G>T c.(805-807)AAG>AAT p.K269N ASNA1_uc002muw.2_Missense_Mutation_p.K268N NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 269 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) CCAAGTGCAAGATTGACACAC 0.527 14 71 --- --- --- --- PASS GCDH 2639 broad.mit.edu 37 19 13004297 13004297 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:13004297G>A uc002mvq.2 + 6 412 c.335G>A c.(334-336)GGA>GAA p.G112E GCDH_uc010xms.1_Missense_Mutation_p.G79E|GCDH_uc002mvp.2_Missense_Mutation_p.G112E|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Missense_Mutation_p.G68E NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 112 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 CTACCACCAGGATATGGCTGT 0.597 16 67 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19656165 19656165 + Silent SNP G T T rs149585848 byFrequency TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:19656165G>T uc002nmv.3 + 8 2896 c.2811G>T c.(2809-2811)CGG>CGT p.R937R CILP2_uc002nmw.3_Silent_p.R943R NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 937 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 AGGAGTTCCGGGCCTGCTTCC 0.657 7 23 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039383 31039383 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:31039383G>T uc002nsu.1 + 4 2995 c.2857G>T c.(2857-2859)GAT>TAT p.D953Y ZNF536_uc010edd.1_Missense_Mutation_p.D953Y NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 953 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCACGGAGTGGATGGTGGTGA 0.542 73 268 --- --- --- --- PASS LRP3 4037 broad.mit.edu 37 19 33697590 33697590 + Missense_Mutation SNP A T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:33697590A>T uc010edh.2 + 6 1769 c.1676A>T c.(1675-1677)CAG>CTG p.Q559L LRP3_uc010xrp.1_3'UTR|LRP3_uc002nuk.3_Missense_Mutation_p.Q433L NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 559 Cytoplasmic (Potential). receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CTCATCGCCCAGGGCCTCATT 0.672 33 131 --- --- --- --- PASS LGI4 163175 broad.mit.edu 37 19 35616357 35616357 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:35616357C>A uc002nxx.2 - 9 1948 c.1354G>T c.(1354-1356)GGT>TGT p.G452C LGI4_uc002nxy.1_Missense_Mutation_p.G280C|LGI4_uc002nxz.1_3'UTR NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 452 EAR 4. extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACGTGGGCACCGCGCGAGGGA 0.662 4 8 --- --- --- --- PASS MAG 4099 broad.mit.edu 37 19 35802819 35802819 + Splice_Site SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:35802819A>G uc002nyy.1 + 10 1766 c.1617_splice c.e10-2 p.K539_splice MAG_uc002nyx.1_Splice_Site_p.K539_splice|MAG_uc010eds.1_Splice_Site_p.K514_splice|MAG_uc002nyz.1_Splice_Site_p.K539_splice NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTGCCCTGCAGAAAGAACGT 0.597 5 17 --- --- --- --- PASS ZFP30 22835 broad.mit.edu 37 19 38125950 38125950 + Missense_Mutation SNP C T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:38125950C>T uc002ogv.1 - 6 2008 c.1492G>A c.(1492-1494)GAA>AAA p.E498K ZFP30_uc002ogw.1_Missense_Mutation_p.E498K|ZFP30_uc002ogx.1_Missense_Mutation_p.E498K|ZFP30_uc010xtt.1_Missense_Mutation_p.E497K NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 498 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTTACATTCCTTACATTTG 0.338 26 120 --- --- --- --- PASS FBXO46 23403 broad.mit.edu 37 19 46215710 46215710 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:46215710G>T uc002pcy.2 - 2 1169 c.1044C>A c.(1042-1044)CCC>CCA p.P348P FBXO46_uc002pcz.2_Silent_p.P348P NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 348 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GGGGCGCCGGGGGAGTGTCCT 0.701 7 10 --- --- --- --- PASS PLA2G4C 8605 broad.mit.edu 37 19 48607849 48607849 + Missense_Mutation SNP T C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:48607849T>C uc002phx.2 - 4 651 c.253A>G c.(253-255)ACT>GCT p.T85A PLA2G4C_uc002phw.2_Missense_Mutation_p.T20A|PLA2G4C_uc010elr.2_Missense_Mutation_p.T85A|PLA2G4C_uc010xzd.1_Missense_Mutation_p.T95A|PLA2G4C_uc002phy.3_Missense_Mutation_p.T85A NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 85 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) GCTTACCAAGTGGATCCAGAG 0.403 41 140 --- --- --- --- PASS IGLON5 402665 broad.mit.edu 37 19 51827045 51827045 + Silent SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:51827045C>A uc002pwc.2 + 3 288 c.288C>A c.(286-288)TCC>TCA p.S96S NM_001101372 NP_001094842 A6NGN9 IGLO5_HUMAN IgLON family member 5 precursor 96 Ig-like C2-type 1. extracellular region 0 AGGAGTTCTCCATCCTCATCA 0.642 7 39 --- --- --- --- PASS VN1R2 317701 broad.mit.edu 37 19 53762509 53762509 + Missense_Mutation SNP A C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:53762509A>C uc002qbi.2 + 1 965 c.881A>C c.(880-882)CAG>CCG p.Q294P NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 294 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CACAAACAGCAGGTACAACAC 0.483 44 211 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56538777 56538777 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr19:56538777G>T uc002qmj.2 + 7 1178 c.1178G>T c.(1177-1179)AGT>ATT p.S393I NLRP5_uc002qmi.2_Missense_Mutation_p.S374I NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 393 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCATACGCAGTCTGCTGAGG 0.552 13 31 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5903744 5903744 + Missense_Mutation SNP G A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr20:5903744G>A uc002wmg.2 + 4 1260 c.954G>A c.(952-954)ATG>ATA p.M318I CHGB_uc010zqz.1_Missense_Mutation_p.M1I NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 318 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 ACGTCAGCATGGCCAGTTTAG 0.542 19 79 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5903745 5903745 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr20:5903745G>T uc002wmg.2 + 4 1261 c.955G>T c.(955-957)GCC>TCC p.A319S CHGB_uc010zqz.1_Missense_Mutation_p.A2S NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 319 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 CGTCAGCATGGCCAGTTTAGG 0.542 19 78 --- --- --- --- PASS HAO1 54363 broad.mit.edu 37 20 7894954 7894954 + Nonsense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr20:7894954G>T uc002wmw.1 - 3 426 c.402C>A c.(400-402)TAC>TAA p.Y134* HAO1_uc010gbu.2_Nonsense_Mutation_p.Y134* NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 134 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 CTCGGTCCTTGTAGATATACA 0.537 21 74 --- --- --- --- PASS TM9SF4 9777 broad.mit.edu 37 20 30729590 30729590 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr20:30729590G>T uc002wxj.2 + 5 655 c.420G>T c.(418-420)GTG>GTT p.V140V TM9SF4_uc010ztr.1_Silent_p.V66V|TM9SF4_uc010zts.1_Silent_p.V47V|TM9SF4_uc002wxk.2_Silent_p.V123V|TM9SF4_uc010gdz.2_Silent_p.V47V NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 140 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACCTGCCTGTGGCCACCCGGC 0.587 31 154 --- --- --- --- PASS KIAA0406 9675 broad.mit.edu 37 20 36640671 36640671 + Silent SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr20:36640671C>G uc002xhl.2 - 3 1757 c.1548G>C c.(1546-1548)GTG>GTC p.V516V KIAA0406_uc002xhm.2_Silent_p.V516V NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 516 binding 0 Myeloproliferative disorder(115;0.00874) TCCGGTAAACCACAGATTGAT 0.423 37 107 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37531435 37531435 + Silent SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr20:37531435G>T uc002xje.2 + 6 885 c.696G>T c.(694-696)CTG>CTT p.L232L PPP1R16B_uc010ggc.2_Silent_p.L232L NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 232 ANK 3. regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GTGCCACACTGGTGAGGAGAT 0.612 18 107 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37531436 37531436 + Splice_Site SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr20:37531436G>T uc002xje.2 + 6 885 c.696_splice c.e6+1 p.L232_splice PPP1R16B_uc010ggc.2_Splice_Site_p.L232_splice NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TGCCACACTGGTGAGGAGATG 0.617 17 105 --- --- --- --- PASS C21orf91 54149 broad.mit.edu 37 21 19165739 19165739 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr21:19165739T>A uc002yko.3 - 5 978 c.887A>T c.(886-888)AAC>ATC p.N296I C21orf91_uc002ykm.2_5'Flank|C21orf91_uc002ykn.2_5'Flank|C21orf91_uc002ykq.3_Missense_Mutation_p.N295I|C21orf91_uc002ykp.3_3'UTR NM_001100420 NP_001093890 Q9NYK6 EURL_HUMAN early undifferentiated retina and lens isoform 296 ovary(1) 1 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) AGGTCAGTTGTTTATGGGTAG 0.453 13 28 --- --- --- --- PASS RNF160 26046 broad.mit.edu 37 21 30357092 30357092 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr21:30357092G>T uc002ymr.2 - 4 648 c.635C>A c.(634-636)GCA>GAA p.A212E RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 166 ligase activity|zinc ion binding 0 TGCATCTTTTGCTGCAAACGC 0.398 5 140 --- --- --- --- PASS KRTAP21-2 337978 broad.mit.edu 37 21 32119451 32119451 + Nonsense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr21:32119451C>A uc011adh.1 - 1 70 c.70G>T c.(70-72)GGA>TGA p.G24* NM_181617 NP_853648 Q3LI59 KR212_HUMAN keratin associated protein 21-2 24 intermediate filament 0 caaccatatccacagccggaa 0.129 41 61 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 17978494 17978494 + Missense_Mutation SNP G T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr22:17978494G>T uc010gqw.1 + 3 458 c.332G>T c.(331-333)GGG>GTG p.G111V CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 153 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GACAATTCTGGGGCACTATAT 0.488 25 66 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26736444 26736444 + Silent SNP C T T rs141142000 TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr22:26736444C>T uc003acb.2 + 10 2214 c.2058C>T c.(2056-2058)GGC>GGT p.G686G SEZ6L_uc003acc.2_Silent_p.G686G|SEZ6L_uc011akc.1_Silent_p.G686G|SEZ6L_uc003acd.2_Silent_p.G686G|SEZ6L_uc011akd.1_Silent_p.G686G|SEZ6L_uc003ace.2_Silent_p.G686G|SEZ6L_uc003acf.1_Silent_p.G459G|SEZ6L_uc010gvc.1_Silent_p.G459G NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 686 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 TCTACGATGGCGACGAGGTCA 0.517 80 335 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40078600 40078600 + Missense_Mutation SNP C G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr22:40078600C>G uc003ayc.2 + 35 5764 c.5764C>G c.(5764-5766)CTG>GTG p.L1922V CACNA1I_uc003ayd.2_Missense_Mutation_p.L1887V|CACNA1I_uc003aye.2_Missense_Mutation_p.L1837V|CACNA1I_uc003ayf.2_Missense_Mutation_p.L1802V NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1922 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AGAGAACTTCCTGTGTGAGAT 0.617 38 61 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30237233 30237233 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:30237233C>A uc004dbz.2 + 2 639 c.536C>A c.(535-537)ACC>AAC p.T179N NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 179 MAGE. protein binding ovary(1) 1 CACACTTACACCTTCATCGAC 0.522 18 23 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32481678 32481678 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:32481678T>A uc004dda.1 - 25 3554 c.3310A>T c.(3310-3312)AGT>TGT p.S1104C DMD_uc004dcz.2_Missense_Mutation_p.S981C|DMD_uc004dcy.1_Missense_Mutation_p.S1100C|DMD_uc004ddb.1_Missense_Mutation_p.S1096C|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1104 Spectrin 7. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.L1104I(1) ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGTTTAGACTGGGCTGAATT 0.363 3 10 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148939 34148939 + Missense_Mutation SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:34148939C>A uc004ddg.2 - 1 1490 c.1457G>T c.(1456-1458)CGT>CTT p.R486L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 486 ovary(4)|central_nervous_system(1) 5 GGACCTCCGACGTGTCTTGGG 0.637 24 51 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50051889 50051889 + Silent SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:50051889G>C uc004dox.3 + 6 1018 c.720G>C c.(718-720)CGG>CGC p.R240R CCNB3_uc004doy.2_Silent_p.R240R|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 240 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CAAGTCAGCGGAAGCAGTCCT 0.418 29 40 --- --- --- --- PASS KDM5C 8242 broad.mit.edu 37 X 53246997 53246997 + Missense_Mutation SNP T A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:53246997T>A uc004drz.2 - 4 1036 c.503A>T c.(502-504)CAG>CTG p.Q168L KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.Q101L|KDM5C_uc004dsa.2_Missense_Mutation_p.Q168L NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 168 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 GGCTCCAGACTGGTACATTTC 0.502 N|F|S clear cell renal carcinoma 24 30 --- --- --- --- PASS ACRC 93953 broad.mit.edu 37 X 70832780 70832780 + Missense_Mutation SNP T G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:70832780T>G uc004eae.2 + 13 2525 c.2024T>G c.(2023-2025)GTC>GGC p.V675G BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 675 nucleus ovary(3) 3 Renal(35;0.156) GGGTCTCTGGTCATGGTGCCA 0.473 26 30 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73066617 73066617 + RNA SNP C A A TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:73066617C>A uc004ebm.1 - 1 c.5972G>T NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 ACCATGCTGTCCTTCAAAAGG 0.438 46 44 --- --- --- --- PASS FAM133A 286499 broad.mit.edu 37 X 92964597 92964597 + Missense_Mutation SNP A T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:92964597A>T uc004efr.1 + 4 492 c.179A>T c.(178-180)GAA>GTA p.E60V NM_173698 NP_775969 Q8N9E0 F133A_HUMAN hypothetical protein LOC286499 60 Lys-rich. 0 GCATTAGCTGAATTTGAAGAA 0.303 25 26 --- --- --- --- PASS SERPINA7 6906 broad.mit.edu 37 X 105280897 105280897 + Missense_Mutation SNP G C C TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:105280897G>C uc004eme.1 - 1 169 c.153C>G c.(151-153)TTC>TTG p.F51L SERPINA7_uc010npd.2_Missense_Mutation_p.F51L|SERPINA7_uc010npe.1_Missense_Mutation_p.F51L NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 51 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) GGTACAGATTGAATGCAAAGT 0.468 81 118 --- --- --- --- PASS ALG13 79868 broad.mit.edu 37 X 110979954 110979954 + Missense_Mutation SNP A G G TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chrX:110979954A>G uc011msy.1 + 23 2576 c.2542A>G c.(2542-2544)ATT>GTT p.I848V ALG13_uc011msx.1_Missense_Mutation_p.I744V|ALG13_uc011msz.1_Missense_Mutation_p.I770V|ALG13_uc011mta.1_Missense_Mutation_p.I744V|ALG13_uc011mtb.1_Missense_Mutation_p.I744V Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 848 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 GATGGGAAATATTGCAGCAGT 0.383 76 102 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7804743 7804744 + Frame_Shift_Ins INS - T T TCGA-66-2755-01A-01D-1522-08 TCGA-66-2755-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 177d64a9-65dc-4aa1-8774-bd8208e40f04 4b5f3ccc-2a5b-4e9a-96ab-08f7224ab332 g.chr5:7804743_7804744insT uc003jdz.1 + 22 2888_2889 c.2821_2822insT c.(2821-2823)ATTfs p.I941fs ADCY2_uc011cmo.1_Frame_Shift_Ins_p.I761fs|ADCY2_uc010itm.1_Frame_Shift_Ins_p.I137fs NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 941 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GATTAAGACCATTGGCAGCACA 0.525 85 46 --- --- --- ---