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 C1orf159 54991 broad.mit.edu 37 1 1019531 1019531 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:1019531C>A uc001act.2 - 11 1298 c.812G>T c.(811-813)TGG>TTG p.W271L C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc010nyd.1_Intron|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Intron|C1orf159_uc001acn.2_Missense_Mutation_p.W235L|C1orf159_uc001acp.2_Intron NM_017891 NP_060361 Q96HA4 CA159_HUMAN hypothetical protein LOC54991 271 Pro-rich. integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GGGCGCCGGCCAAATCCAGCT 0.672 12 46 --- --- --- --- PASS NOL9 79707 broad.mit.edu 37 1 6592658 6592658 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:6592658C>G uc001ans.2 - 8 1419 c.1400G>C c.(1399-1401)CGA>CCA p.R467P NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 467 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) TCTGAAACGTCGATTTCTCAT 0.423 58 217 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10336408 10336408 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:10336408G>T uc001aqx.3 + 12 1190 c.988G>T c.(988-990)GCT>TCT p.A330S KIF1B_uc001aqv.3_Missense_Mutation_p.A324S|KIF1B_uc001aqw.3_Missense_Mutation_p.A324S|KIF1B_uc001aqy.2_Missense_Mutation_p.A330S|KIF1B_uc001aqz.2_Missense_Mutation_p.A330S|KIF1B_uc001ara.2_Missense_Mutation_p.A330S|KIF1B_uc001arb.2_Missense_Mutation_p.A330S NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 330 Kinesin-motor.|Interaction with KBP. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AATGGTTGCTGCTCTGAGCCC 0.398 14 62 --- --- --- --- PASS TNFRSF8 943 broad.mit.edu 37 1 12175713 12175713 + Silent SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:12175713A>G uc001atq.2 + 8 1095 c.873A>G c.(871-873)ACA>ACG p.T291T TNFRSF8_uc010obc.1_Silent_p.T180T NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 291 Extracellular (Potential).|TNFR-Cys 6. cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TCTGTGCCACATCAGCCACCA 0.592 28 122 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12401886 12401886 + Silent SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:12401886G>C uc001atv.2 + 41 8817 c.8676G>C c.(8674-8676)CTG>CTC p.L2892L VPS13D_uc001atw.2_Silent_p.L2867L|VPS13D_uc001atx.2_Silent_p.L2079L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2891 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCTTTGCTCTGAGGAACCACA 0.552 38 171 --- --- --- --- PASS PRAMEF2 65122 broad.mit.edu 37 1 12921377 12921377 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:12921377T>C uc001aum.1 + 4 1255 c.1168T>C c.(1168-1170)TCT>CCT p.S390P NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 390 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) CAATTGCATGTCTATTGACGC 0.562 52 185 --- --- --- --- PASS CNR2 1269 broad.mit.edu 37 1 24201704 24201704 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:24201704A>T uc001bif.2 - 2 531 c.404T>A c.(403-405)CTG>CAG p.L135Q NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 135 Cytoplasmic (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) TGGATAGCGCAGGCAGAGGTA 0.582 27 112 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34401428 34401428 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:34401428G>A uc001bxn.1 - 4 554 c.525C>T c.(523-525)GCC>GCT p.A175A CSMD2_uc001bxm.1_Silent_p.A215A NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 175 Sushi 1.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGTGAGCACGGCGTGGCCCT 0.632 23 69 --- --- --- --- PASS GJA4 2701 broad.mit.edu 37 1 35260622 35260622 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:35260622G>T uc001bya.2 + 2 896 c.808G>T c.(808-810)GGC>TGC p.G270C GJA4_uc009vul.2_Missense_Mutation_p.G346C|GJA4_uc009vum.1_Missense_Mutation_p.G270C NM_002060 NP_002051 P35212 CXA4_HUMAN connexin 37 270 Cytoplasmic (Potential). cell-cell junction assembly integral to plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CCTCCCCGTGGGCCAGGGGCC 0.652 12 31 --- --- --- --- PASS ZMYM1 79830 broad.mit.edu 37 1 35580300 35580300 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:35580300A>T uc001bym.2 + 11 3017 c.2869A>T c.(2869-2871)ACT>TCT p.T957S ZMYM1_uc001byn.2_Missense_Mutation_p.T957S|ZMYM1_uc010ohu.1_Missense_Mutation_p.T938S|ZMYM1_uc001byo.2_Missense_Mutation_p.T597S|ZMYM1_uc009vut.2_Missense_Mutation_p.T882S NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 957 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTTTTTCCTACTTCAACAGA 0.259 10 41 --- --- --- --- PASS KIAA0754 643314 broad.mit.edu 37 1 39878642 39878642 + Nonsense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:39878642C>G uc009vvt.1 + 1 3467 c.2705C>G c.(2704-2706)TCA>TGA p.S902* MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 766 Ala-rich. 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCTGCAGTATCAGCCCCAGAG 0.537 3 18 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42048060 42048060 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:42048060G>A uc001cgz.3 - 4 3622 c.2409C>T c.(2407-2409)ACC>ACT p.T803T HIVEP3_uc001cha.3_Silent_p.T803T|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 803 Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAAAGGAGCTGGTGTGCTGGA 0.567 40 95 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43777413 43777413 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:43777413G>C uc001ciu.2 + 10 1484 c.1405G>C c.(1405-1407)GTC>CTC p.V469L TIE1_uc010okd.1_Missense_Mutation_p.V469L|TIE1_uc010oke.1_Missense_Mutation_p.V424L|TIE1_uc009vwq.2_Missense_Mutation_p.V425L|TIE1_uc010okf.1_Missense_Mutation_p.V114L|TIE1_uc010okg.1_Missense_Mutation_p.V114L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 469 Extracellular (Potential).|Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCCCCGCTGGTCTCGTTCTC 0.647 16 90 --- --- --- --- PASS FAM159A 348378 broad.mit.edu 37 1 53122610 53122610 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:53122610C>T uc001cuf.2 + 3 571 c.471C>T c.(469-471)CTC>CTT p.L157L FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 157 integral to membrane 0 CCAAACGCCTCCTCCATCATT 0.572 79 247 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67147612 67147612 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:67147612A>G uc001dcr.2 + 15 1092 c.875A>G c.(874-876)GAC>GGC p.D292G SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.D59G NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 292 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 AATGACTTGGACAGCATTTTT 0.403 50 247 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75107037 75107037 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:75107037C>T uc001dgg.2 - 5 641 c.422G>A c.(421-423)GGA>GAA p.G141E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 141 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 ACTGGAATGTCCTTCATCAAC 0.423 43 140 --- --- --- --- PASS TTLL7 79739 broad.mit.edu 37 1 84403661 84403661 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:84403661G>T uc001djc.2 - 8 1158 c.762C>A c.(760-762)AAC>AAA p.N254K TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 254 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CATTATGCTTGTTCACGGAGT 0.398 53 166 --- --- --- --- PASS SAMD13 148418 broad.mit.edu 37 1 84791331 84791331 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:84791331A>G uc001djr.2 + 3 299 c.107A>G c.(106-108)AAT>AGT p.N36S SAMD13_uc010orw.1_Missense_Mutation_p.N22S|SAMD13_uc010orx.1_Missense_Mutation_p.N22S NM_001010971 NP_001010971 Q5VXD3 SAM13_HUMAN sterile alpha motif domain containing 13 isoform 42 0 all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136) TCCATGGAAAATGGGAGACCA 0.517 19 76 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91779026 91779026 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:91779026T>C uc001doa.3 - 30 3371 c.3271A>G c.(3271-3273)ACA>GCA p.T1091A HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.T770A|HFM1_uc001dob.3_Missense_Mutation_p.T279A|HFM1_uc010osv.1_Missense_Mutation_p.T775A NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1091 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TAAAAGACTGTAAGTTTCTGC 0.308 31 119 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94490552 94490552 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:94490552G>A uc001dqh.2 - 31 4696 c.4592C>T c.(4591-4593)TCC>TTC p.S1531F NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1531 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAAGAAGTCGGAGATGTTCCT 0.428 32 131 --- --- --- --- PASS SARS 6301 broad.mit.edu 37 1 109779943 109779943 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:109779943G>C uc001dwu.1 + 10 1410 c.1335G>C c.(1333-1335)CAG>CAC p.Q445H SARS_uc001dwv.1_Missense_Mutation_p.Q470H|SARS_uc001dww.1_Missense_Mutation_p.Q378H|SARS_uc001dwx.1_Missense_Mutation_p.Q397H|SARS_uc009wfa.1_Intron|SARS_uc001dwy.1_Missense_Mutation_p.Q270H|SARS_uc001dwz.1_Missense_Mutation_p.Q270H NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 445 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) AGAACTACCAGACAGAGAAGG 0.522 28 117 --- --- --- --- PASS AHCYL1 10768 broad.mit.edu 37 1 110557398 110557398 + Silent SNP C T T rs144479834 byFrequency TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:110557398C>T uc001dyx.2 + 6 961 c.594C>T c.(592-594)TTC>TTT p.F198F AHCYL1_uc010ovw.1_Silent_p.F151F|AHCYL1_uc001dyy.2_Silent_p.F151F|AHCYL1_uc010ovx.1_Silent_p.F151F NM_006621 NP_006612 O43865 SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like 1 198 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) TTGCAGTGTTCGCTTGGAAGG 0.458 21 82 --- --- --- --- PASS C1orf103 55791 broad.mit.edu 37 1 111494237 111494237 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:111494237C>G uc001eaa.2 - 2 1525 c.1269G>C c.(1267-1269)CAG>CAC p.Q423H C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) TTGTCTCCATCTGGGAAGATT 0.403 106 371 --- --- --- --- PASS HMGCS2 3158 broad.mit.edu 37 1 120295926 120295926 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:120295926C>A uc001eid.2 - 7 1322 c.1271G>T c.(1270-1272)CGA>CTA p.R424L HMGCS2_uc010oxj.1_Missense_Mutation_p.R382L|HMGCS2_uc001eie.2_Missense_Mutation_p.R332L NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 424 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CTGGGATACTCGAAATGAAAA 0.478 10 39 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152191986 152191986 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:152191986A>T uc001ezt.1 - 3 2195 c.2119T>A c.(2119-2121)TCA>ACA p.S707T NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 707 7. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGCCCTGAGCCAGACTTG 0.562 51 204 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152282838 152282838 + Silent SNP T G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:152282838T>G uc001ezu.1 - 3 4560 c.4524A>C c.(4522-4524)TCA>TCC p.S1508S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1508 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTATCTACTGATTGCTCGT 0.582 Ichthyosis 141 150 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152284000 152284000 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:152284000A>G uc001ezu.1 - 3 3398 c.3362T>C c.(3361-3363)GTG>GCG p.V1121A uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1121 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGAGTGCTCACCTGGTAGAT 0.607 Ichthyosis 137 146 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152325501 152325501 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:152325501C>T uc001ezw.3 - 3 4834 c.4761G>A c.(4759-4761)GGG>GGA p.G1587G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1587 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTGAGCCCCCTGAGTGCA 0.517 117 359 --- --- --- --- PASS CHRNB2 1141 broad.mit.edu 37 1 154544213 154544213 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:154544213T>C uc001ffg.2 + 5 1178 c.914T>C c.(913-915)ATG>ACG p.M305T NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 305 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ATGTTCACCATGGTGCTTGTC 0.632 17 95 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157771929 157771929 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:157771929A>T uc001frg.2 - 5 775 c.662T>A c.(661-663)GTG>GAG p.V221E FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.V221E|FCRL1_uc001fri.2_Missense_Mutation_p.V221E|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 221 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CACATCCTCCACTGCAGCCTG 0.592 22 62 --- --- --- --- PASS PBX1 5087 broad.mit.edu 37 1 164769081 164769081 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:164769081C>T uc001gct.2 + 4 914 c.656C>T c.(655-657)ACG>ATG p.T219M PBX1_uc010pku.1_Missense_Mutation_p.T219M|PBX1_uc010pkv.1_Missense_Mutation_p.T136M|PBX1_uc001gcs.2_Missense_Mutation_p.T219M|PBX1_uc010pkw.1_Missense_Mutation_p.T109M NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 219 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 AAGCAGAGCACGTGCGAGGCG 0.607 T TCF3|EWSR1 pre B-ALL|myoepithelioma 14 38 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169529825 169529825 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:169529825C>T uc001ggg.1 - 4 698 c.553G>A c.(553-555)GGG>AGG p.G185R F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 185 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCAATCAGCCCCGAGTTGAAA 0.468 34 150 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180063614 180063614 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:180063614G>C uc001gnt.2 + 34 8757 c.8374G>C c.(8374-8376)GAC>CAC p.D2792H CEP350_uc009wxl.2_Missense_Mutation_p.D2791H|CEP350_uc001gnv.2_Missense_Mutation_p.D927H|CEP350_uc001gnw.1_Missense_Mutation_p.D549H|CEP350_uc001gnx.1_Missense_Mutation_p.D549H NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2792 centrosome|nucleus|spindle ovary(4) 4 TCTTGGTGATGACCAAAAGAA 0.383 15 49 --- --- --- --- PASS RGS1 5996 broad.mit.edu 37 1 192548421 192548421 + Missense_Mutation SNP T G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:192548421T>G uc001gsi.1 + 5 665 c.599T>G c.(598-600)CTA>CGA p.L200R NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 200 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) TTAAATCTTCTAAATGACCTG 0.418 17 103 --- --- --- --- PASS B3GALT2 8707 broad.mit.edu 37 1 193150016 193150016 + Missense_Mutation SNP T G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:193150016T>G uc001gtc.3 - 2 1392 c.677A>C c.(676-678)AAT>ACT p.N226T CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 226 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 AATGGTCAAATTATAGTACGT 0.343 35 105 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196871618 196871618 + Nonsense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:196871618C>A uc001gto.2 + 2 198 c.129C>A c.(127-129)TAC>TAA p.Y43* CFHR4_uc009wyy.2_Nonsense_Mutation_p.Y42*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.Y43* NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 43 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 GTAGACTATACTTTCCAGCAG 0.338 46 194 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197021830 197021830 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:197021830G>A uc001gtt.1 - 9 1533 c.1489C>T c.(1489-1491)CCA>TCA p.P497S NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 497 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCAGACAATGGGGTTAATGGA 0.318 33 104 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390692 197390692 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:197390692G>T uc001gtz.2 + 6 1869 c.1734G>T c.(1732-1734)GTG>GTT p.V578V CRB1_uc010poz.1_Silent_p.V509V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Silent_p.V466V|CRB1_uc010ppb.1_Silent_p.V578V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Silent_p.V59V|CRB1_uc001gub.1_Silent_p.V227V NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 578 Extracellular (Potential).|Laminin G-like 1. V -> E (in RP12). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CAGAGGCTGTGACCCTTACCT 0.443 43 181 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198704329 198704329 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:198704329A>G uc001gur.1 + 23 2525 c.2345A>G c.(2344-2346)AAC>AGC p.N782S PTPRC_uc001gus.1_Missense_Mutation_p.N734S|PTPRC_uc001gut.1_Missense_Mutation_p.N621S|PTPRC_uc010ppg.1_Missense_Mutation_p.N718S NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 782 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GTAAAGATCAACCAGCACAAA 0.308 16 37 --- --- --- --- PASS DDX59 83479 broad.mit.edu 37 1 200635655 200635655 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:200635655C>G uc009wzk.2 - 2 457 c.214G>C c.(214-216)GTT>CTT p.V72L DDX59_uc010ppl.1_Missense_Mutation_p.V72L NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 72 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 ACTGAATGAACCTCTGCCAAC 0.542 33 143 --- --- --- --- PASS MYOG 4656 broad.mit.edu 37 1 203054989 203054989 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:203054989C>G uc001gzd.2 - 1 389 c.101G>C c.(100-102)GGC>GCC p.G34A NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 34 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 CCGCTCGTAGCCTGGTGGTTC 0.642 30 76 --- --- --- --- PASS ADORA1 134 broad.mit.edu 37 1 203134447 203134447 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:203134447C>T uc001gze.1 + 4 833 c.400C>T c.(400-402)CTC>TTC p.L134F FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.L134F|ADORA1_uc010pqg.1_Missense_Mutation_p.L66F|ADORA1_uc009xak.1_Missense_Mutation_p.P59L|ADORA1_uc010pqh.1_Missense_Mutation_p.L167F NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 134 Helical; Name=4; (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CTGCTGGATCCTCTCCTTCGT 0.657 10 36 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215813994 215813994 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:215813994G>A uc001hku.1 - 68 15261 c.14874C>T c.(14872-14874)AAC>AAT p.N4958N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4958 Fibronectin type-III 35.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCAGTTGGCCGTTCAGGAGGA 0.547 HNSCC(13;0.011) 25 64 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848658 215848658 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:215848658C>G uc001hku.1 - 63 12982 c.12595G>C c.(12595-12597)GCT>CCT p.A4199P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4199 Extracellular (Potential).|Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTCCCCAAGCTTTTCCCTCG 0.418 HNSCC(13;0.011) 42 160 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228563434 228563434 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:228563434C>A uc009xez.1 + 98 22739 c.22695C>A c.(22693-22695)ATC>ATA p.I7565I OBSCN_uc001hsr.1_Silent_p.I2194I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7565 Fibronectin type-III 4. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCCCGGATATCGGGGAGGTGT 0.617 8 18 --- --- --- --- PASS EGLN1 54583 broad.mit.edu 37 1 231503323 231503323 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:231503323T>C uc001huv.2 - 4 4364 c.1208A>G c.(1207-1209)TAT>TGT p.Y403C EGLN1_uc001huu.3_Missense_Mutation_p.Y105C NM_022051 NP_071334 Q9GZT9 EGLN1_HUMAN egl nine homolog 1 403 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding 0 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) ACCTGTTAGATATTTTACTTT 0.373 40 173 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236908036 236908036 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:236908036G>T uc001hyf.2 + 12 1570 c.1366G>T c.(1366-1368)GAC>TAC p.D456Y ACTN2_uc001hyg.2_Missense_Mutation_p.D248Y|ACTN2_uc009xgi.1_Missense_Mutation_p.D456Y|ACTN2_uc010pxu.1_Missense_Mutation_p.D145Y|ACTN2_uc001hyh.2_Missense_Mutation_p.D144Y NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 456 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AGCGCACCAGGACCGCGTGGA 0.647 17 49 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236920893 236920893 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:236920893G>A uc001hyf.2 + 18 2466 c.2262G>A c.(2260-2262)CAG>CAA p.Q754Q ACTN2_uc001hyg.2_Silent_p.Q546Q|ACTN2_uc009xgi.1_Silent_p.Q754Q|ACTN2_uc010pxu.1_Silent_p.Q443Q|ACTN2_uc001hyh.2_Silent_p.Q442Q NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 754 EF-hand 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCCAGGAGCAGATGAATGAGT 0.483 28 88 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370951 240370951 + Missense_Mutation SNP C T T rs150891575 byFrequency TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:240370951C>T uc010pyd.1 + 5 3064 c.2839C>T c.(2839-2841)CCT>TCT p.P947S FMN2_uc010pye.1_Missense_Mutation_p.P951S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 947 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCCTCCGCCCCCTCTACCCGG 0.692 17 45 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248031147 248031147 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:248031147G>T uc001ido.2 + 4 796 c.748G>T c.(748-750)GGT>TGT p.G250C OR2W3_uc001idp.1_5'Flank NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 250 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCTTTTCAGGGTGTGAGAGG 0.463 22 82 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248059533 248059533 + Silent SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr1:248059533G>C uc001idp.1 + 3 914 c.645G>C c.(643-645)CTG>CTC p.L215L OR2W3_uc010pzb.1_Silent_p.L215L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGTTTATCCTGCTCTCTTACA 0.582 68 231 --- --- --- --- PASS WDR35 57539 broad.mit.edu 37 2 20174337 20174337 + Missense_Mutation SNP T G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:20174337T>G uc002rdi.2 - 7 736 c.628A>C c.(628-630)ATT>CTT p.I210L WDR35_uc002rdj.2_Missense_Mutation_p.I210L|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 210 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCAATGAATTCCAGCAATG 0.368 40 38 --- --- --- --- PASS PUM2 23369 broad.mit.edu 37 2 20463042 20463042 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:20463042C>A uc002rds.1 - 13 2160 c.2137G>T c.(2137-2139)GAT>TAT p.D713Y PUM2_uc002rdq.1_Missense_Mutation_p.D90Y|PUM2_uc002rdt.1_Missense_Mutation_p.D713Y|PUM2_uc002rdr.2_Missense_Mutation_p.D573Y|PUM2_uc010yjy.1_Missense_Mutation_p.D634Y|PUM2_uc002rdu.1_Missense_Mutation_p.D713Y|PUM2_uc010yjz.1_Missense_Mutation_p.D652Y NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 713 PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCTGAAATCTTCCAATAAT 0.438 62 65 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32730095 32730095 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:32730095A>T uc010ezu.2 + 50 9657 c.9523A>T c.(9523-9525)ACT>TCT p.T3175S NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3175 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TAGCAGTCCTACTGCCCAACC 0.408 20 33 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43927520 43927520 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:43927520G>T uc010yny.1 + 8 1506 c.1423G>T c.(1423-1425)GCT>TCT p.A475S PLEKHH2_uc002rte.3_Missense_Mutation_p.A475S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.A474S NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 475 cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAATAGAAACGCTATAAGCAT 0.408 150 165 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79350273 79350273 + Splice_Site SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:79350273G>C uc002snz.2 + 6 537 c.434_splice c.e6-1 p.G145_splice REG1A_uc010ysd.1_Splice_Site_p.G145_splice NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TTGACTTATAGGATTCCAGAA 0.413 54 58 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79971590 79971590 + Silent SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:79971590A>G uc010ysh.1 + 2 185 c.180A>G c.(178-180)CTA>CTG p.L60L CTNNA2_uc010yse.1_Silent_p.L60L|CTNNA2_uc010ysf.1_Silent_p.L60L|CTNNA2_uc010ysg.1_Silent_p.L60L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 60 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 CCCATGTACTAGCTGCCTCTG 0.438 23 29 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90260137 90260137 + RNA SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:90260137C>T uc010fhm.2 + 30 c.4120C>T Parts of antibodies, mostly variable regions. AAAGTGGGGTCCCATCAAGGT 0.468 149 168 --- --- --- --- PASS ADRA2B 151 broad.mit.edu 37 2 96781149 96781149 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:96781149T>C uc002svi.2 - 1 740 c.740A>G c.(739-741)AAC>AGC p.N247S NM_000682 NP_000673 P18089 ADA2B_HUMAN alpha-2B-adrenergic receptor 247 Cytoplasmic (By similarity). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding ovary(2)|lung(1) 3 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CGAGTGTCCGTTGACCTCTCT 0.647 6 29 --- --- --- --- PASS TMEM182 130827 broad.mit.edu 37 2 103414439 103414439 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:103414439G>A uc010fjb.2 + 4 636 c.449G>A c.(448-450)GGA>GAA p.G150E TMEM182_uc002tcc.3_Missense_Mutation_p.G107E|TMEM182_uc002tcd.3_Missense_Mutation_p.G54E|TMEM182_uc010ywe.1_RNA NM_144632 NP_653233 Q6ZP80 TM182_HUMAN transmembrane protein 182 precursor 150 Cytoplasmic (Potential). integral to membrane 0 AAAGCTGGGGGAGGCTCATAT 0.478 22 140 --- --- --- --- PASS IL1A 3552 broad.mit.edu 37 2 113537242 113537242 + Silent SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:113537242T>C uc002tig.2 - 5 1281 c.321A>G c.(319-321)GAA>GAG p.E107E NM_000575 NP_000566 P01583 IL1A_HUMAN interleukin 1, alpha proprotein 107 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding lung(1) 1 GCTTGATGATTTCTAAAACCA 0.383 25 73 --- --- --- --- PASS IL1F7 27178 broad.mit.edu 37 2 113670672 113670672 + Splice_Site SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:113670672G>A uc002tij.2 + 1 124 c.82_splice c.e1+1 p.D28_splice IL1F7_uc002tik.2_Splice_Site_p.G28_splice|IL1F7_uc002til.2_Splice_Site_p.D28_splice|IL1F7_uc002tim.2_Splice_Site_p.E28_splice|IL1F7_uc002tin.2_5'Flank NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 TGCTTAGAAGGTAAGGTTCTT 0.463 17 65 --- --- --- --- PASS PAX8 7849 broad.mit.edu 37 2 113993138 113993138 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:113993138A>G uc010yxt.1 - 9 1086 c.920T>C c.(919-921)ATA>ACA p.I307T PAX8_uc010yxu.1_Intron|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_RNA|LOC654433_uc002tjq.3_RNA|LOC654433_uc010fks.2_RNA|LOC654433_uc010fkt.2_RNA|LOC654433_uc002tjr.3_5'Flank NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 307 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 TTCCTGCTTTATGGCGAAGGG 0.602 T PPARG follicular thyroid Thyroid dysgenesis 9 41 --- --- --- --- PASS TMEM177 80775 broad.mit.edu 37 2 120438821 120438821 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:120438821G>T uc010flg.1 + 2 865 c.392G>T c.(391-393)TGG>TTG p.W131L TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.W131L|TMEM177_uc002tmd.2_Missense_Mutation_p.W131L|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 131 integral to membrane ovary(1) 1 Colorectal(110;0.196) ACAGTGGACTGGCGGAGCCCA 0.602 56 417 --- --- --- --- PASS RND3 390 broad.mit.edu 37 2 151328205 151328205 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:151328205C>T uc002txe.2 - 4 663 c.419G>A c.(418-420)CGG>CAG p.R140Q RND3_uc002txf.2_Missense_Mutation_p.R139Q|RND3_uc002txg.2_Missense_Mutation_p.R140Q|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Missense_Mutation_p.R11Q NM_005168 NP_005159 P61587 RND3_HUMAN ras homolog gene family, member E precursor 140 actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction Golgi membrane GTP binding|GTPase activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.106) AACATCTGTCCGCAGATCAGA 0.403 18 100 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162851470 162851470 + Splice_Site SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:162851470C>T uc002ubz.2 - 25 2760 c.2199_splice c.e25+1 p.M733_splice DPP4_uc010fpb.2_Splice_Site_p.M409_splice NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TTTTTCTATACCATTGCCTGG 0.463 15 62 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166771833 166771833 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:166771833C>A uc002udk.2 - 15 2149 c.2016G>T c.(2014-2016)CGG>CGT p.R672R NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 672 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TGCTTAAAGCCCGTTCAATAT 0.398 40 309 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167301443 167301443 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:167301443C>G uc002udu.1 - 12 1582 c.1455G>C c.(1453-1455)TGG>TGC p.W485C SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 485 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 GAGAACAATTCCAGATCAAGA 0.303 5 59 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170061990 170061990 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:170061990G>C uc002ues.2 - 41 7927 c.7714C>G c.(7714-7716)CTG>GTG p.L2572V NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2572 LDL-receptor class B 28.|Extracellular (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) GACACCTACAGACTAGCATCC 0.468 24 123 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170070273 170070273 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:170070273T>A uc002ues.2 - 36 6147 c.5934A>T c.(5932-5934)GAA>GAT p.E1978D NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1978 LDL-receptor class B 19.|Extracellular (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) CCTCATACTGTTCATCAGTAT 0.433 46 181 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178576540 178576540 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:178576540G>A uc002ulq.2 - 13 2428 c.2110C>T c.(2110-2112)CAT>TAT p.H704Y PDE11A_uc002ulp.2_Missense_Mutation_p.H260Y|PDE11A_uc002ulr.2_Missense_Mutation_p.H454Y|PDE11A_uc002uls.1_Missense_Mutation_p.H346Y|PDE11A_uc002ult.1_Missense_Mutation_p.H454Y|PDE11A_uc002ulu.1_Missense_Mutation_p.H346Y NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 704 Catalytic (By similarity). Divalent metal cation 1 (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TCGAGGTCATGACACAGGCAT 0.453 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 9 59 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179433541 179433541 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:179433541G>A uc010zfg.1 - 275 69838 c.69614C>T c.(69613-69615)GCT>GTT p.A23205V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A16900V|TTN_uc010zfi.1_Missense_Mutation_p.A16833V|TTN_uc010zfj.1_Missense_Mutation_p.A16708V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24132 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) TTCATTTACAGCAACAACTCT 0.418 37 93 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179499517 179499517 + Silent SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:179499517C>G uc010zfg.1 - 178 34604 c.34380G>C c.(34378-34380)CTG>CTC p.L11460L TTN_uc010zfh.1_Silent_p.L5155L|TTN_uc010zfi.1_Silent_p.L5088L|TTN_uc010zfj.1_Silent_p.L4963L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12387 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) CAGCTTGGTCCAGTTTGACTT 0.398 38 173 --- --- --- --- PASS GLS 2744 broad.mit.edu 37 2 191760377 191760377 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:191760377G>A uc002usf.2 + 3 795 c.531G>A c.(529-531)GAG>GAA p.E177E GLS_uc002usd.2_3'UTR|GLS_uc002use.2_Silent_p.E177E NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 177 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGTTGAAAGAGTGTATGGATA 0.313 13 98 --- --- --- --- PASS SLC39A10 57181 broad.mit.edu 37 2 196545509 196545509 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:196545509C>G uc002utg.3 + 2 957 c.743C>G c.(742-744)ACA>AGA p.T248R SLC39A10_uc002uth.3_Missense_Mutation_p.T248R|SLC39A10_uc010zgp.1_Intron NM_001127257 NP_001120729 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), 248 zinc ion transport integral to membrane metal ion transmembrane transporter activity pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.221) GAGGTTATTACACCAGGTTTT 0.408 19 72 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950309 198950309 + Nonsense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:198950309G>T uc010fsp.2 + 2 2359 c.2068G>T c.(2068-2070)GGA>TGA p.G690* PLCL1_uc002uuv.3_Nonsense_Mutation_p.G611* NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 690 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TCAAAACGGGGGATGTGGTTA 0.463 29 203 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200137379 200137379 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:200137379T>A uc002uuy.1 - 11 2574 c.1757A>T c.(1756-1758)CAG>CTG p.Q586L SATB2_uc010fsq.1_Missense_Mutation_p.Q468L|SATB2_uc002uuz.1_Missense_Mutation_p.Q586L|SATB2_uc002uva.1_Missense_Mutation_p.Q586L NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 586 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGCTGAGACTGCTGTCTATG 0.478 13 118 --- --- --- --- PASS SGOL2 151246 broad.mit.edu 37 2 201436332 201436332 + Silent SNP A C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:201436332A>C uc002uvw.2 + 7 1376 c.1263A>C c.(1261-1263)TCA>TCC p.S421S SGOL2_uc010zhd.1_Silent_p.S421S|SGOL2_uc010zhe.1_Silent_p.S421S NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 421 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 AAAATAGTTCAGATGTCGATA 0.348 11 125 --- --- --- --- PASS SGOL2 151246 broad.mit.edu 37 2 201436333 201436333 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:201436333G>T uc002uvw.2 + 7 1377 c.1264G>T c.(1264-1266)GAT>TAT p.D422Y SGOL2_uc010zhd.1_Missense_Mutation_p.D422Y|SGOL2_uc010zhe.1_Missense_Mutation_p.D422Y NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 422 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 AAATAGTTCAGATGTCGATAT 0.348 11 124 --- --- --- --- PASS SGOL2 151246 broad.mit.edu 37 2 201436386 201436386 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:201436386G>T uc002uvw.2 + 7 1430 c.1317G>T c.(1315-1317)CTG>CTT p.L439L SGOL2_uc010zhd.1_Silent_p.L439L|SGOL2_uc010zhe.1_Silent_p.L439L NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 439 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 CTGATGTCCTGGATGGCAAAA 0.383 51 128 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207170059 207170059 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:207170059G>T uc002vbp.2 + 5 1057 c.807G>T c.(805-807)TTG>TTT p.L269F NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 269 nucleic acid binding|zinc ion binding ovary(3) 3 CAGATAAGTTGGTTTTGTGGA 0.363 4 30 --- --- --- --- PASS STK16 8576 broad.mit.edu 37 2 220110800 220110800 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:220110800G>T uc002vko.2 + 2 236 c.79G>T c.(79-81)GGG>TGG p.G27W GLB1L_uc010zkx.1_5'Flank|GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.G27W|STK16_uc010zky.1_Missense_Mutation_p.G27W|STK16_uc010fwf.2_Missense_Mutation_p.G27W|STK16_uc002vkp.2_Missense_Mutation_p.G27W|STK16_uc002vkr.2_5'UTR|STK16_uc002vkq.2_Missense_Mutation_p.G27W NM_001008910 NP_001008910 O75716 STK16_HUMAN serine/threonine kinase 16 27 Protein kinase.|ATP (By similarity). protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAGAAACTGGGGGAGGGGTG 0.493 18 52 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234371076 234371076 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:234371076C>T uc002vui.1 + 25 3076 c.3064C>T c.(3064-3066)CGT>TGT p.R1022C DGKD_uc002vuj.1_Missense_Mutation_p.R978C|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 1022 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GTCCATGGACCGTGTGTATGG 0.577 14 64 --- --- --- --- PASS UGT1A10 54575 broad.mit.edu 37 2 234545877 234545877 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:234545877A>G uc002vur.2 + 1 755 c.709A>G c.(709-711)ACC>GCC p.T237A UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.T237A NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 237 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AATTCTCCAAACCCCTGTCAC 0.438 164 522 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238277605 238277605 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr2:238277605C>T uc002vwl.2 - 10 4786 c.4501G>A c.(4501-4503)GAC>AAC p.D1501N COL6A3_uc002vwo.2_Missense_Mutation_p.D1295N|COL6A3_uc010znj.1_Missense_Mutation_p.D894N NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1501 VWFA 8.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGTATGGCGTCCAGCACCGGG 0.557 17 78 --- --- --- --- PASS C3orf32 51066 broad.mit.edu 37 3 8671372 8671372 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:8671372C>T uc003bqu.2 - 7 746 c.500G>A c.(499-501)AGC>AAC p.S167N C3orf32_uc003bqz.2_Missense_Mutation_p.S167N|C3orf32_uc003bqt.2_Missense_Mutation_p.S116N|C3orf32_uc011atg.1_Missense_Mutation_p.S189N|C3orf32_uc003bqv.2_Missense_Mutation_p.S116N|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.S167N NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN hypothetical protein LOC51066 167 Cys-rich. skin(1) 1 GTGGCAGCCGCTGCACTTGTA 0.428 9 56 --- --- --- --- PASS C3orf62 375341 broad.mit.edu 37 3 49314221 49314221 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:49314221C>A uc003cwn.2 - 1 288 c.85G>T c.(85-87)GAC>TAC p.D29Y C3orf62_uc003cwm.2_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN hypothetical protein LOC375341 29 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGGCCCGGTCAATGGCTGCA 0.517 32 63 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126734135 126734135 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:126734135G>T uc003ejg.2 + 14 2921 c.2917G>T c.(2917-2919)GTC>TTC p.V973F NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 996 IPT/TIG 2.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GGCTGTGTCGGTCGGTGGCCG 0.657 14 49 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126734145 126734145 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:126734145G>T uc003ejg.2 + 14 2931 c.2927G>T c.(2926-2928)CGG>CTG p.R976L NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 999 IPT/TIG 2.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GTCGGTGGCCGGCCCTGCTCC 0.667 17 45 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140275475 140275475 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:140275475C>T uc003etn.2 + 11 1985 c.1795C>T c.(1795-1797)CGG>TGG p.R599W CLSTN2_uc003etm.2_Missense_Mutation_p.R599W NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 599 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GGCGGGTGTGCGGCGCCTCAA 0.577 HNSCC(16;0.037) 5 110 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128840 147128840 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:147128840C>G uc003ewe.2 + 1 1660 c.941C>G c.(940-942)GCG>GGG p.A314G NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 314 C2H2-type 3. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AAGGTCTTCGCGCGCTCCGAG 0.562 18 61 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165548316 165548316 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:165548316A>G uc003fem.3 - 2 666 c.506T>C c.(505-507)GTA>GCA p.V169A BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 169 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CATTGACACTACAATAACTCT 0.418 31 148 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178952079 178952079 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:178952079A>T uc003fjk.2 + 21 3291 c.3134A>T c.(3133-3135)GAT>GTT p.D1045V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1045 PI3K/PI4K. 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.D1045N(2) 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) CAAATGAATGATGCACATCAT 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 19 118 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180334353 180334353 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:180334353A>G uc010hxe.2 - 18 2652 c.2537T>C c.(2536-2538)ATA>ACA p.I846T CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 846 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATTTTCTTCTATGATATCAAC 0.284 11 48 --- --- --- --- PASS DLG1 1739 broad.mit.edu 37 3 196793577 196793577 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:196793577T>A uc003fxo.3 - 21 2319 c.2129A>T c.(2128-2130)GAA>GTA p.E710V DLG1_uc011bub.1_Missense_Mutation_p.E606V|DLG1_uc011buc.1_Missense_Mutation_p.E594V|DLG1_uc011bud.1_Missense_Mutation_p.E393V|DLG1_uc003fxn.3_Missense_Mutation_p.E732V|DLG1_uc011bue.1_Missense_Mutation_p.E698V|DLG1_uc010ial.2_Missense_Mutation_p.E710V NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 710 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCACAAACCTTCTTGTTGATT 0.308 12 128 --- --- --- --- PASS ZNF721 170960 broad.mit.edu 37 4 437083 437083 + Silent SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:437083A>G uc003gag.2 - 3 1864 c.1173T>C c.(1171-1173)TGT>TGC p.C391C ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.C423C|ZNF721_uc010ibe.2_Silent_p.C379C NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 391 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 CACACTCTTCACATTTGTAAG 0.423 9 137 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5141686 5141686 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:5141686A>T uc003gih.1 + 2 171 c.107A>T c.(106-108)AAG>ATG p.K36M STK32B_uc010ida.1_Translation_Start_Site NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 36 ATP (By similarity).|Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 AGTTTTGGAAAGGTAAGAATA 0.403 34 217 --- --- --- --- PASS FBXL5 26234 broad.mit.edu 37 4 15627424 15627424 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:15627424T>C uc003goc.1 - 9 1404 c.1301A>G c.(1300-1302)AAA>AGA p.K434R FBXL5_uc010idw.1_Missense_Mutation_p.K347R|FBXL5_uc003gob.1_Missense_Mutation_p.K308R|FBXL5_uc010idx.1_Missense_Mutation_p.K433R|FBXL5_uc003god.1_Missense_Mutation_p.K417R|FBXL5_uc010idy.1_Missense_Mutation_p.K434R NM_012161 NP_036293 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 isoform 434 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity 0 GGTAATGTCTTTATTTTTCCA 0.393 33 197 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42964979 42964979 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:42964979C>T uc003gwt.2 + 2 455 c.455C>T c.(454-456)ACC>ATC p.T152I NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 152 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 GTCCGGACAACCTTTGAAAGA 0.388 40 281 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44177016 44177016 + Missense_Mutation SNP C A A rs146165410 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:44177016C>A uc003gwu.2 - 2 1497 c.1213G>T c.(1213-1215)GAC>TAC p.D405Y NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 405 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 CTGCGTTTGTCTGGTGGGGGT 0.478 HNSCC(17;0.042) 108 319 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57173815 57173815 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:57173815A>T uc003hbk.2 + 5 626 c.235A>T c.(235-237)ATG>TTG p.M79L KIAA1211_uc010iha.2_Missense_Mutation_p.M72L|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 79 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GACCAGTCCCATGGAAATTGT 0.502 7 49 --- --- --- --- PASS SRP72 6731 broad.mit.edu 37 4 57350915 57350915 + Missense_Mutation SNP G T T rs149517121 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:57350915G>T uc003hbv.2 + 10 1011 c.971G>T c.(970-972)CGC>CTC p.R324L SRP72_uc010ihe.2_Missense_Mutation_p.R263L|SRP72_uc003hbw.1_Missense_Mutation_p.R85L NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 324 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) GAACAATGCCGCAAAATATCT 0.418 65 135 --- --- --- --- PASS PPP3CA 5530 broad.mit.edu 37 4 101984428 101984428 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:101984428C>A uc011cen.1 - 9 1717 c.1042G>T c.(1042-1044)GAT>TAT p.D348Y PPP3CA_uc003hvu.2_Missense_Mutation_p.D348Y|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Missense_Mutation_p.D335Y|PPP3CA_uc003hvs.2_Missense_Mutation_p.D281Y|PPP3CA_uc010ilk.2_Missense_Mutation_p.D116Y NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 348 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GTAAAAACATCCATGAAATTT 0.363 23 47 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102946403 102946403 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:102946403G>T uc003hvy.3 + 9 1605 c.1331G>T c.(1330-1332)GGG>GTG p.G444V BANK1_uc003hvx.3_Missense_Mutation_p.G429V|BANK1_uc010ill.2_Missense_Mutation_p.G311V|BANK1_uc003hvz.3_Missense_Mutation_p.G414V NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 444 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AAGACATACGGGCAGAGTGCA 0.453 43 133 --- --- --- --- PASS ELOVL6 79071 broad.mit.edu 37 4 110980846 110980846 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:110980846G>T uc003hzz.2 - 4 412 c.286C>A c.(286-288)CAG>AAG p.Q96K ELOVL6_uc003iaa.2_Missense_Mutation_p.Q96K NM_001130721 NP_001124193 Q9H5J4 ELOV6_HUMAN elongation of very long chain fatty acids-like 96 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding haematopoietic_and_lymphoid_tissue(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00462) CAAACTGACTGCTTCAGGCCT 0.413 31 45 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111427862 111427862 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:111427862T>A uc003iab.3 + 4 1330 c.988T>A c.(988-990)TTT>ATT p.F330I NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 330 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TAAAAGTGTGTTTGATTATTT 0.279 9 34 --- --- --- --- PASS TRAM1L1 133022 broad.mit.edu 37 4 118005974 118005974 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:118005974G>T uc003ibv.3 - 1 763 c.576C>A c.(574-576)GAC>GAA p.D192E NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 192 Cytoplasmic (Potential).|TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 GACGAGGGATGTCTTGTTTTT 0.393 43 120 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126238488 126238488 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:126238488C>T uc003ifj.3 + 1 922 c.922C>T c.(922-924)CGG>TGG p.R308W NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 308 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TATCACGGTGCGGGAGCCCCT 0.667 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 29 --- --- --- --- PASS FHDC1 85462 broad.mit.edu 37 4 153897162 153897162 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:153897162C>T uc003inf.2 + 11 2794 c.2719C>T c.(2719-2721)CCC>TCC p.P907S NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 907 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) CAAGGTCATGCCCATCACCAA 0.682 3 44 --- --- --- --- PASS NPY5R 4889 broad.mit.edu 37 4 164271888 164271888 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:164271888C>G uc003iqn.2 + 4 645 c.463C>G c.(463-465)CAT>GAT p.H155D NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 155 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) AACAGCAAACCATGGCTACTT 0.363 107 219 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177032832 177032832 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:177032832C>A uc003iuj.2 + 3 329 c.173C>A c.(172-174)ACC>AAC p.T58N WDR17_uc003iuk.2_Missense_Mutation_p.T34N|WDR17_uc003ium.3_Missense_Mutation_p.T34N|WDR17_uc003iul.1_Missense_Mutation_p.T34N NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 58 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) TATTGTGCGACCCTGGCTATC 0.363 22 60 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177032833 177032833 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:177032833C>A uc003iuj.2 + 3 330 c.174C>A c.(172-174)ACC>ACA p.T58T WDR17_uc003iuk.2_Silent_p.T34T|WDR17_uc003ium.3_Silent_p.T34T|WDR17_uc003iul.1_Silent_p.T34T NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 58 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) ATTGTGCGACCCTGGCTATCT 0.363 21 62 --- --- --- --- PASS SPATA4 132851 broad.mit.edu 37 4 177116559 177116559 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:177116559G>C uc003iuo.1 - 1 264 c.155C>G c.(154-156)TCT>TGT p.S52C NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 52 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) AACGGAACGAGACAAGCGGGA 0.592 26 81 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183245314 183245314 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:183245314G>T uc003ivd.1 + 1 178 c.141G>T c.(139-141)TTG>TTT p.L47F ODZ3_uc010irv.1_Missense_Mutation_p.L47F NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 47 Cytoplasmic (Potential).|Teneurin N-terminal. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GCGAGACATTGAAAGCTTTTG 0.507 28 71 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187628794 187628794 + Nonsense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr4:187628794G>A uc003izf.2 - 2 2376 c.2188C>T c.(2188-2190)CAG>TAG p.Q730* FAT1_uc010iso.1_Nonsense_Mutation_p.Q730* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 730 Extracellular (Potential).|Cadherin 6. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCCACAGGCTGGTTTTCCTTT 0.453 HNSCC(5;0.00058) 26 62 --- --- --- --- PASS ZDHHC11 79844 broad.mit.edu 37 5 822005 822005 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:822005C>A uc011cma.1 - 9 1413 c.1029G>T c.(1027-1029)GGG>GGT p.G343G ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 343 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GGTCTTCATCCCCTTCCTGTG 0.358 6 65 --- --- --- --- PASS NSUN2 54888 broad.mit.edu 37 5 6620367 6620367 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:6620367G>A uc003jdu.2 - 7 732 c.667C>T c.(667-669)CTG>TTG p.L223L NSUN2_uc003jdt.2_5'UTR|NSUN2_uc011cmk.1_Silent_p.L188L|NSUN2_uc003jdv.2_5'UTR NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 223 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 TGGACGAGCAGGTAGCAGCGC 0.527 156 110 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23527441 23527441 + Silent SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:23527441T>C uc003jgo.2 + 11 2426 c.2244T>C c.(2242-2244)TAT>TAC p.Y748Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 748 C2H2-type 10. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAAGCCCTATGTCTGCAGGG 0.587 HNSCC(3;0.000094) 43 245 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38425120 38425120 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:38425120C>T uc003jlc.1 + 13 2060 c.1736C>T c.(1735-1737)ACC>ATC p.T579I EGFLAM_uc003jlb.1_Missense_Mutation_p.T579I|EGFLAM_uc003jle.1_Missense_Mutation_p.T345I|EGFLAM_uc003jlf.1_5'UTR NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 579 EGF-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CATGGTGGCACCTGCACAGCA 0.502 75 477 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101735267 101735267 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:101735267G>T uc003knn.2 - 10 1978 c.1806C>A c.(1804-1806)GCC>GCA p.A602A SLCO6A1_uc003kno.2_Silent_p.A349A|SLCO6A1_uc003knp.2_Silent_p.A602A|SLCO6A1_uc003knq.2_Silent_p.A540A NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 602 Helical; Name=10; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ACCGCGTCATGGCCAAGACGA 0.279 18 30 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140168155 140168155 + Silent SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:140168155T>C uc003lhb.2 + 1 2280 c.2280T>C c.(2278-2280)TCT>TCC p.S760S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.S760S NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 760 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGTGCTCTAGCGAGGGCC 0.587 6 25 --- --- --- --- PASS TSPAN17 26262 broad.mit.edu 37 5 176084550 176084550 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:176084550T>C uc003met.2 + 9 1079 c.850T>C c.(850-852)TGG>CGG p.W284R TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.2_Missense_Mutation_p.W281R|TSPAN17_uc003mev.2_3'UTR|TSPAN17_uc003mew.2_3'UTR NM_012171 NP_036303 Q96FV3 TSN17_HUMAN transmembrane 4 superfamily member 17 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) tgaaaacCACTGGCTTACGCC 0.169 8 13 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176678730 176678730 + Splice_Site SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:176678730G>C uc003mfr.3 + 12 4780 c.4642_splice c.e12-1 p.N1548_splice NSD1_uc003mft.3_Splice_Site_p.N1279_splice|NSD1_uc003mfs.1_Splice_Site_p.N1445_splice|NSD1_uc011dfx.1_Splice_Site_p.N1196_splice NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCTCTTAACAGAATTGTGAAA 0.289 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 31 77 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180049733 180049733 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr5:180049733G>T uc003mma.3 - 12 1734 c.1655C>A c.(1654-1656)ACC>AAC p.T552N FLT4_uc003mlz.3_Missense_Mutation_p.T552N|FLT4_uc003mmb.1_Missense_Mutation_p.T85N|FLT4_uc011dgy.1_Missense_Mutation_p.T552N NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 552 Ig-like C2-type 5.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCACTCACTGGTCACATAGAA 0.577 Congenital_Hereditary_Lymphedema 14 23 --- --- --- --- PASS SLC17A1 6568 broad.mit.edu 37 6 25830752 25830752 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:25830752C>G uc003nfh.3 - 2 150 c.34G>C c.(34-36)GTT>CTT p.V12L SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.V10L|SLC17A1_uc010jqc.1_Missense_Mutation_p.V10L NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 12 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 AAAGTGCTACCTTTTTTGGGA 0.398 41 201 --- --- --- --- PASS HIST1H2AD 3013 broad.mit.edu 37 6 26199405 26199405 + Nonsense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:26199405C>A uc003ngw.2 - 1 67 c.67G>T c.(67-69)GGA>TGA p.G23* HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN histone cluster 1, H2ad 23 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.196) AACTGGAGTCCGGCCCGCGAA 0.607 17 37 --- --- --- --- PASS HLA-DMA 3108 broad.mit.edu 37 6 32917165 32917165 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:32917165C>A uc003ocm.2 - 4 750 c.664G>T c.(664-666)GCA>TCA p.A222S NM_006120 NP_006111 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM 222 integral to membrane|MHC class II protein complex 0 GAGGGCAGTGCGTTCCGGGGT 0.587 7 33 --- --- --- --- PASS HLA-DMA 3108 broad.mit.edu 37 6 32917166 32917166 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:32917166G>A uc003ocm.2 - 4 749 c.663C>T c.(661-663)AAC>AAT p.N221N NM_006120 NP_006111 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM 221 integral to membrane|MHC class II protein complex 0 AGGGCAGTGCGTTCCGGGGTA 0.582 7 33 --- --- --- --- PASS TJAP1 93643 broad.mit.edu 37 6 43466779 43466779 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:43466779G>T uc003ovd.2 + 4 416 c.40G>T c.(40-42)GCA>TCA p.A14S TJAP1_uc003ovf.2_Missense_Mutation_p.A14S|TJAP1_uc003ove.2_Missense_Mutation_p.A14S|TJAP1_uc003ovc.2_Missense_Mutation_p.A14S|TJAP1_uc010jyp.2_5'UTR|TJAP1_uc011dvh.1_Missense_Mutation_p.A14S|TJAP1_uc003ovg.2_5'UTR|TJAP1_uc010jyq.2_Missense_Mutation_p.A14S|TJAP1_uc011dvi.1_Missense_Mutation_p.A14S|TJAP1_uc011dvj.1_5'Flank NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 14 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTACCGTAAGGCACCACCAGA 0.587 7 64 --- --- --- --- PASS ICK 22858 broad.mit.edu 37 6 52874359 52874359 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:52874359C>T uc003pbh.2 - 13 1989 c.1499G>A c.(1498-1500)AGT>AAT p.S500N ICK_uc003pbi.2_Missense_Mutation_p.S500N NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 500 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) atttcttatactgatccctga 0.269 37 130 --- --- --- --- PASS LCA5 167691 broad.mit.edu 37 6 80196890 80196890 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:80196890C>A uc003pix.2 - 8 2360 c.1925G>T c.(1924-1926)GGG>GTG p.G642V LCA5_uc003piy.2_Missense_Mutation_p.G642V NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 642 protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GCCTTTATTCCCAGGGAGAAA 0.428 48 249 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85472389 85472389 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:85472389G>T uc003pkl.1 - 2 370 c.370C>A c.(370-372)CGC>AGC p.R124S TBX18_uc010kbq.1_5'UTR NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 124 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GCCAGGGAGCGCGCCGGAGAC 0.697 10 53 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87925771 87925771 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:87925771G>T uc003plm.3 + 2 360 c.319G>T c.(319-321)GCA>TCA p.A107S ZNF292_uc003pll.1_Missense_Mutation_p.A107S NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GGAACGCTTGGCATTGTGAGT 0.284 9 79 --- --- --- --- PASS BVES 11149 broad.mit.edu 37 6 105573354 105573354 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:105573354T>A uc003pqw.2 - 4 608 c.451A>T c.(451-453)ATG>TTG p.M151L BVES_uc003pqx.2_Missense_Mutation_p.M151L|BVES_uc003pqy.2_Missense_Mutation_p.M151L NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 151 Cytoplasmic (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GTTTGGATCATGCAAAACTGT 0.438 71 296 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117706942 117706942 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:117706942G>T uc003pxp.1 - 15 2407 c.2208C>A c.(2206-2208)ATC>ATA p.I736I ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 736 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AATTCTCTGAGATATCCGTCC 0.463 T GOPC|ROS1 glioblastoma|NSCLC 43 120 --- --- --- --- PASS ENPP3 5169 broad.mit.edu 37 6 131996260 131996260 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:131996260C>A uc003qcu.3 + 10 1150 c.803C>A c.(802-804)ACC>AAC p.T268N ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.T234N|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.T268N NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 268 Extracellular (Potential).|Phosphodiesterase. 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) AAAGCCGCTACCTACTTTTGG 0.423 29 96 --- --- --- --- PASS MAP3K5 4217 broad.mit.edu 37 6 136923061 136923061 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:136923061C>T uc003qhc.2 - 20 3097 c.2736G>A c.(2734-2736)AAG>AAA p.K912K MAP3K5_uc011edj.1_Silent_p.K159K|MAP3K5_uc011edk.1_Silent_p.K757K NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 912 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GTATGAATGCCTTGGCCTCTG 0.403 17 119 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138200446 138200446 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:138200446G>T uc003qhr.2 + 7 1930 c.1864G>T c.(1864-1866)GGC>TGC p.G622C TNFAIP3_uc003qhs.2_Missense_Mutation_p.G622C NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 622 Interaction with NAF1 (By similarity).|A20-type 4. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AGAAAACAAGGGCTTTTGCAC 0.527 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 15 125 --- --- --- --- PASS IYD 389434 broad.mit.edu 37 6 150710499 150710499 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:150710499T>A uc003qnu.1 + 2 330 c.190T>A c.(190-192)TGG>AGG p.W64R IYD_uc003qnv.1_Missense_Mutation_p.W64R|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.W64R|IYD_uc010kik.1_Missense_Mutation_p.N4K NM_203395 NP_981932 Q6PHW0 IYD1_HUMAN iodotyrosine dehalogenase 1 isoform 2 64 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane ovary(2) 2 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGCTGATGAATGGCAAGAATC 0.383 22 64 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152605113 152605113 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:152605113C>A uc010kiw.2 - 96 18809 c.18207G>T c.(18205-18207)GAG>GAT p.E6069D SYNE1_uc010kiv.2_Missense_Mutation_p.E593D|SYNE1_uc003qos.3_Missense_Mutation_p.E593D|SYNE1_uc003qot.3_Missense_Mutation_p.E5998D|SYNE1_uc003qou.3_Missense_Mutation_p.E6069D|SYNE1_uc010kiy.1_Missense_Mutation_p.E248D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6069 Spectrin 20.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATTGGTTACCTCCAAAAGCT 0.478 HNSCC(10;0.0054) 7 74 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152655162 152655162 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:152655162C>T uc010kiw.2 - 77 13377 c.12775G>A c.(12775-12777)GAA>AAA p.E4259K SYNE1_uc003qot.3_Missense_Mutation_p.E4188K|SYNE1_uc003qou.3_Missense_Mutation_p.E4259K|SYNE1_uc010kiz.2_Missense_Mutation_p.E14K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4259 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTATCCCATTCTGTAGTAAAT 0.358 HNSCC(10;0.0054) 42 279 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152784642 152784642 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:152784642C>A uc010kiw.2 - 19 2545 c.1943G>T c.(1942-1944)CGA>CTA p.R648L SYNE1_uc003qot.3_Missense_Mutation_p.R655L|SYNE1_uc003qou.3_Missense_Mutation_p.R648L|SYNE1_uc010kjb.1_Missense_Mutation_p.R631L|SYNE1_uc003qpa.1_Missense_Mutation_p.R648L|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.R164L|SYNE1_uc003qoz.2_Missense_Mutation_p.R80L|SYNE1_uc003qoy.2_Missense_Mutation_p.R215L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 648 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGTAAATTTCGAAAAAAATC 0.343 HNSCC(10;0.0054) 17 39 --- --- --- --- PASS RNASET2 8635 broad.mit.edu 37 6 167347621 167347621 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:167347621C>T uc003qve.2 - 7 857 c.450G>A c.(448-450)GTG>GTA p.V150V RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Silent_p.V58V|RNASET2_uc003qvg.2_Silent_p.V87V|RNASET2_uc003qvi.1_3'UTR NM_003730 NP_003721 O00584 RNT2_HUMAN ribonuclease T2 precursor 150 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) ATTTTAGAAGCACACTAAAAT 0.358 13 79 --- --- --- --- PASS MLLT4 4301 broad.mit.edu 37 6 168351866 168351866 + Missense_Mutation SNP C T T rs144621028 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr6:168351866C>T uc003qwd.2 + 29 3950 c.3808C>T c.(3808-3810)CGT>TGT p.R1270C MLLT4_uc003qwb.1_Missense_Mutation_p.R1255C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1271C|MLLT4_uc003qwg.1_Missense_Mutation_p.R580C NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1271 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTTTTTGCAGCGTGTTACACG 0.353 T MLL AL 15 54 --- --- --- --- PASS SLC29A4 222962 broad.mit.edu 37 7 5331371 5331371 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:5331371G>T uc003sod.2 + 5 624 c.463G>T c.(463-465)GTG>TTG p.V155L SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.V155L|SLC29A4_uc003soe.2_Silent_p.T142T NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 155 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CATCTGCGACGTGTGGCTGCA 0.637 12 82 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21654792 21654792 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:21654792C>G uc003svc.2 + 21 3944 c.3913C>G c.(3913-3915)CTT>GTT p.L1305V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1305 Potential.|Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ATCTACTCGTCTTTTTGAAGT 0.398 Kartagener_syndrome 25 47 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21778398 21778398 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:21778398C>A uc003svc.2 + 48 7777 c.7746C>A c.(7744-7746)ATC>ATA p.I2582I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2582 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTTATTTTATCGACGACATGA 0.383 Kartagener_syndrome 7 18 --- --- --- --- PASS HOXA10 3206 broad.mit.edu 37 7 27213855 27213855 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:27213855G>T uc011jzm.1 - 1 101 c.71C>A c.(70-72)CCC>CAC p.P24H HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 24 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTTCGCGGCGGGGCTCTCCGA 0.408 21 48 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35242129 35242129 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:35242129C>T uc011kas.1 - 8 1268 c.1257G>A c.(1255-1257)CCG>CCA p.P419P NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 419 nucleus DNA binding central_nervous_system(1) 1 GATGGTATCGCGGCATGTGGA 0.522 9 28 --- --- --- --- PASS SEPT14 346288 broad.mit.edu 37 7 55914210 55914210 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:55914210C>G uc003tqz.2 - 3 292 c.175G>C c.(175-177)GGG>CGG p.G59R NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 59 GTP (By similarity). cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGACACTTACCCACACAGAGA 0.333 41 171 --- --- --- --- PASS ELN 2006 broad.mit.edu 37 7 73462840 73462840 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:73462840C>A uc003tzw.2 + 15 844 c.753C>A c.(751-753)GGC>GGA p.G251G RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.G220G|ELN_uc003tzn.2_Silent_p.G251G|ELN_uc003tzz.2_Silent_p.G215G|ELN_uc003tzo.2_Silent_p.G237G|ELN_uc003tzp.2_Silent_p.G207G|ELN_uc003tzq.2_Silent_p.G134G|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.G251G|ELN_uc003tzt.2_Silent_p.G256G|ELN_uc003tzu.2_Silent_p.G256G|ELN_uc003tzv.2_Silent_p.G241G|ELN_uc003tzx.2_Silent_p.G241G|ELN_uc011kff.1_Silent_p.G251G|ELN_uc003tzy.2_Silent_p.G246G NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 251 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CAGGGGTTGGCCCCCAGgcag 0.517 T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 24 157 --- --- --- --- PASS POR 5447 broad.mit.edu 37 7 75613147 75613147 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:75613147G>T uc003udy.2 + 10 1121 c.1039G>T c.(1039-1041)GTC>TTC p.V347F POR_uc011kgc.1_Missense_Mutation_p.V155F|POR_uc011kgd.1_Missense_Mutation_p.V246F|POR_uc011kge.1_Missense_Mutation_p.V85F|POR_uc003uea.2_5'Flank NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 344 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) CGACCTGGACGTCGTCATGTC 0.632 6 14 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86394673 86394673 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:86394673C>T uc003uid.2 + 2 1311 c.212C>T c.(211-213)GCC>GTC p.A71V GRM3_uc010lef.2_Missense_Mutation_p.A69V|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 71 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CGCCTGGAAGCCATGTTGTTT 0.428 57 147 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86479772 86479772 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:86479772C>T uc003uid.2 + 5 3577 c.2478C>T c.(2476-2478)ATC>ATT p.I826I GRM3_uc010lef.2_Missense_Mutation_p.P469S|GRM3_uc010leg.2_Silent_p.I698I|GRM3_uc010leh.2_Silent_p.I418I NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 826 Helical; Name=7; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTCACATCATCCTGTTTCAAC 0.488 29 82 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86479773 86479773 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:86479773C>G uc003uid.2 + 5 3578 c.2479C>G c.(2479-2481)CTG>GTG p.L827V GRM3_uc010lef.2_Missense_Mutation_p.P469R|GRM3_uc010leg.2_Missense_Mutation_p.L699V|GRM3_uc010leh.2_Missense_Mutation_p.L419V NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 827 Helical; Name=7; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCACATCATCCTGTTTCAACC 0.493 29 81 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 92028042 92028042 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:92028042G>C uc003ulw.2 + 20 3425 c.3049G>C c.(3049-3051)GTG>CTG p.V1017L ANKIB1_uc010lew.1_Missense_Mutation_p.V286L NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 1017 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGTGGAACTGGTGCTGCCAGA 0.468 11 50 --- --- --- --- PASS PEG10 23089 broad.mit.edu 37 7 94293392 94293392 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:94293392G>C uc011kie.1 + 2 969 c.752G>C c.(751-753)CGC>CCC p.R251P NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 175 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AGACGCCTGCGCCAAGGCATG 0.527 32 264 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103293160 103293160 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:103293160G>A uc003vca.2 - 14 1761 c.1601C>T c.(1600-1602)CCT>CTT p.P534L RELN_uc010liz.2_Missense_Mutation_p.P534L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 534 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTTGGTAGCAGGAGTCTGAAG 0.428 47 158 --- --- --- --- PASS GPR85 54329 broad.mit.edu 37 7 112724772 112724772 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:112724772G>C uc010ljv.2 - 2 522 c.5C>G c.(4-6)GCG>GGG p.A2G GPR85_uc003vgp.1_Missense_Mutation_p.A2G|GPR85_uc003vgq.2_Missense_Mutation_p.A2G|GPR85_uc010ljw.1_Missense_Mutation_p.A2G NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 2 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 GCTATAGTTCGCCATAGATGG 0.398 15 31 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113517799 113517799 + Silent SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:113517799T>C uc010ljy.1 - 4 3379 c.3348A>G c.(3346-3348)AAA>AAG p.K1116K NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 1116 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TGACAGACTCTTTTTGTCTAC 0.363 56 134 --- --- --- --- PASS SPAM1 6677 broad.mit.edu 37 7 123593754 123593754 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:123593754A>T uc003vld.2 + 4 532 c.130A>T c.(130-132)ATT>TTT p.I44F SPAM1_uc003vle.2_Missense_Mutation_p.I44F|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.I44F|SPAM1_uc010lku.2_Missense_Mutation_p.I44F NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 44 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) ACCTCCTGTTATTCCAAATGT 0.418 21 91 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131887566 131887566 + Nonsense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:131887566C>A uc003vra.3 - 12 2654 c.2425G>T c.(2425-2427)GAG>TAG p.E809* NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 809 PSI 3.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CCGCAGCTCTCACGCATGGCT 0.647 8 27 --- --- --- --- PASS KEL 3792 broad.mit.edu 37 7 142641733 142641733 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:142641733G>T uc003wcb.2 - 12 1620 c.1410C>A c.(1408-1410)GAC>GAA p.D470E NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 470 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.D470N(1) ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GCCTGACCTTGTCCTGGGCCA 0.567 7 38 --- --- --- --- PASS CTAGE6 340307 broad.mit.edu 37 7 143453479 143453479 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:143453479G>C uc003wdk.3 - 1 1365 c.1273C>G c.(1273-1275)CGT>GGT p.R425G uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron NM_178561 NP_848656 Q86UF2 CTGE6_HUMAN CTAGE family, member 6 425 Potential. integral to membrane 0 Melanoma(164;0.0903) TCAGTGGCACGGCTGAGCTTT 0.378 17 276 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147092850 147092850 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:147092850G>A uc003weu.1 + 10 2164 c.1648G>A c.(1648-1650)GAC>AAC p.D550N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 550 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGTCAGCATTGACATGTGTGC 0.428 HNSCC(39;0.1) 58 143 --- --- --- --- PASS HTR5A 3361 broad.mit.edu 37 7 154863283 154863283 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:154863283A>G uc003wlu.1 + 1 738 c.674A>G c.(673-675)AAG>AGG p.K225R uc011kvt.1_5'Flank|uc003wlt.2_5'Flank NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 225 Cytoplasmic (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AAGATCTACAAGGCTGCCAAG 0.557 9 73 --- --- --- --- PASS WDR60 55112 broad.mit.edu 37 7 158663842 158663842 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr7:158663842T>C uc003woe.3 + 3 237 c.79T>C c.(79-81)TCA>CCA p.S27P NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 27 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GGCCATACAGTCAGGTGGTTC 0.488 3 46 --- --- --- --- PASS BLK 640 broad.mit.edu 37 8 11400774 11400774 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:11400774C>T uc003wty.2 + 2 622 c.41C>T c.(40-42)CCG>CTG p.P14L BLK_uc003wtz.2_Intron NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 14 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AAGGAAAAGCCGATCAAAGAG 0.602 17 45 --- --- --- --- PASS MCM4 4173 broad.mit.edu 37 8 48878887 48878887 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:48878887C>G uc003xqk.1 + 9 1068 c.973C>G c.(973-975)CCC>GCC p.P325A MCM4_uc003xql.1_Missense_Mutation_p.P325A|MCM4_uc011ldi.1_Missense_Mutation_p.P312A NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 325 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CATTGCAGAGCCCAGTGTGTG 0.642 18 56 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53071463 53071463 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:53071463C>T uc003xqz.2 - 10 1957 c.1801G>A c.(1801-1803)GCC>ACC p.A601T ST18_uc011ldq.1_Missense_Mutation_p.A248T|ST18_uc011ldr.1_Missense_Mutation_p.A566T|ST18_uc011lds.1_Missense_Mutation_p.A506T|ST18_uc003xra.2_Missense_Mutation_p.A601T|ST18_uc003xrb.2_Missense_Mutation_p.A601T NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 601 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCTACCTTGGCATGCAGACTC 0.547 56 171 --- --- --- --- PASS ATP6V1H 51606 broad.mit.edu 37 8 54684613 54684613 + Nonsense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:54684613C>A uc003xrl.2 - 10 1137 c.985G>T c.(985-987)GAA>TAA p.E329* ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.E289*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.E329*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.E311*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.E249*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.E265* NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 329 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CTGATATCTTCATCATCGTAC 0.393 71 141 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61750802 61750802 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:61750802C>T uc003xue.2 + 19 4998 c.4521C>T c.(4519-4521)TCC>TCT p.S1507S NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1507 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) GGAAAGGTTCCACATTTGCTA 0.418 7 23 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72967808 72967808 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:72967808C>A uc003xza.2 - 12 1567 c.1392G>T c.(1390-1392)AGG>AGT p.R464S NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 464 ANK 11.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CTTGTAGGAGCCTCTGACAGG 0.388 36 167 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73480336 73480336 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:73480336C>A uc003xzb.2 + 2 955 c.367C>A c.(367-369)CTT>ATT p.L123I NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 123 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TGGCCAAGAACTTGATTACTG 0.453 75 162 --- --- --- --- PASS TERF1 7013 broad.mit.edu 37 8 73958325 73958325 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:73958325A>G uc003xzd.2 + 10 1298 c.1273A>G c.(1273-1275)AGG>GGG p.R425G TERF1_uc003xze.2_Missense_Mutation_p.R405G NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 425 H-T-H motif.|HTH myb-type. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) AGACAGATGGAGGACCATGAA 0.383 25 129 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767923 77767923 + Silent SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:77767923A>G uc003yav.2 + 10 9018 c.8631A>G c.(8629-8631)AAA>AAG p.K2877K ZFHX4_uc003yau.1_Silent_p.K2922K|ZFHX4_uc003yaw.1_Silent_p.K2877K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2877 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) TTAAATCCAAAAGTAATGATC 0.512 HNSCC(33;0.089) 21 87 --- --- --- --- PASS PMP2 5375 broad.mit.edu 37 8 82359589 82359589 + Silent SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:82359589A>T uc003ycb.1 - 1 131 c.33T>A c.(31-33)CTT>CTA p.L11L PMP2_uc010lzv.1_RNA NM_002677 NP_002668 P02689 MYP2_HUMAN peripheral myelin protein 2 11 cytoplasm cholesterol binding|fatty acid binding|transporter activity 0 Epithelial(68;0.186) CACTAGAGACAAGTTTCCAGG 0.418 31 188 --- --- --- --- PASS RALYL 138046 broad.mit.edu 37 8 85441619 85441619 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:85441619C>A uc003ycq.3 + 3 479 c.63C>A c.(61-63)TCC>TCA p.S21S RALYL_uc003ycr.3_Silent_p.S21S|RALYL_uc003ycs.3_Silent_p.S21S|RALYL_uc010lzy.2_Silent_p.S21S|RALYL_uc003yct.3_Silent_p.S34S NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 21 RRM. identical protein binding|nucleotide binding|RNA binding ovary(1) 1 CCATCAACTCCCGTGTTTTCA 0.383 10 47 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87738864 87738864 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:87738864G>A uc003ydx.2 - 3 279 c.233C>T c.(232-234)TCC>TTC p.S78F NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 78 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 ATCTCCAGAGGAATTTTTCTT 0.428 193 458 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92352656 92352656 + Silent SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:92352656G>C uc003yex.2 + 9 1181 c.903G>C c.(901-903)CCG>CCC p.P301P SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.P301P|SLC26A7_uc003yfa.2_Silent_p.P301P NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 301 Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) GAGCTCCCCCGATGAACATCC 0.443 26 190 --- --- --- --- PASS RRM2B 50484 broad.mit.edu 37 8 103231116 103231116 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:103231116C>A uc003ykn.2 - 6 854 c.610G>T c.(610-612)GCT>TCT p.A204S RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.A152S|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron NM_015713 NP_056528 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 204 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding ovary(2) 2 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) CAGAATATAGCAGCAAAAGAT 0.398 Direct_reversal_of_damage|Modulation_of_nucleotide_pools 41 268 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120569785 120569785 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:120569785C>T uc003yot.1 - 25 2654 c.2568G>A c.(2566-2568)CTG>CTA p.L856L ENPP2_uc011lic.1_Silent_p.L394L|ENPP2_uc003yor.1_Silent_p.L491L|ENPP2_uc003yos.1_Silent_p.L908L|ENPP2_uc010mdd.1_Silent_p.L881L NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 856 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CATATGTATGCAGGTATGTCT 0.403 39 201 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125035683 125035683 + Splice_Site SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:125035683G>C uc003yqw.2 + 18 2340 c.2134_splice c.e18-1 p.P712_splice uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TATTCCCACAGCCCCAGCACA 0.498 59 272 --- --- --- --- PASS ZNF572 137209 broad.mit.edu 37 8 125989627 125989627 + Nonsense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:125989627G>T uc003yrr.2 + 3 1272 c.1117G>T c.(1117-1119)GAA>TAA p.E373* NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CAATGTGATAGAAGAATGCAG 0.393 HNSCC(60;0.17) 12 167 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133051285 133051285 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:133051285G>T uc003ytg.2 - 5 495 c.495C>A c.(493-495)TCC>TCA p.S165S OC90_uc011lix.1_Silent_p.S181S NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 181 Phospholipase A2-like 1. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GAAGGTTCAGGGAAGAGTTGA 0.562 17 70 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144877216 144877216 + Missense_Mutation SNP C T T rs144293240 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:144877216C>T uc003yzp.1 - 27 3845 c.3838G>A c.(3838-3840)GTG>ATG p.V1280M SCRIB_uc003yzn.1_Translation_Start_Site|SCRIB_uc003yzo.1_Missense_Mutation_p.V1280M NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1280 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACCCTCTGCACGCTGCCAGCG 0.687 11 35 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144993255 144993255 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:144993255G>T uc003zaf.1 - 32 11315 c.11145C>A c.(11143-11145)GGC>GGA p.G3715G PLEC_uc003zab.1_Silent_p.G3578G|PLEC_uc003zac.1_Silent_p.G3582G|PLEC_uc003zad.2_Silent_p.G3578G|PLEC_uc003zae.1_Silent_p.G3546G|PLEC_uc003zag.1_Silent_p.G3556G|PLEC_uc003zah.2_Silent_p.G3564G|PLEC_uc003zaj.2_Silent_p.G3605G NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3715 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGCCGTGGCTGCCGCCGCCGG 0.647 58 81 --- --- --- --- PASS RPL8 6132 broad.mit.edu 37 8 146015194 146015194 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr8:146015194T>C uc003zeb.2 - 6 880 c.769A>G c.(769-771)AAC>GAC p.N257D RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.N221D|RPL8_uc003zec.2_Missense_Mutation_p.N257D NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 257 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) CAGCACTAGTTCTCTTTCTCC 0.582 69 431 --- --- --- --- PASS SYK 6850 broad.mit.edu 37 9 93650155 93650155 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr9:93650155G>T uc004aqz.2 + 12 1911 c.1706G>T c.(1705-1707)GGG>GTG p.G569V SYK_uc004ara.2_Missense_Mutation_p.G546V|SYK_uc004arb.2_Missense_Mutation_p.G546V|SYK_uc004arc.2_Missense_Mutation_p.G569V|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA NM_003177 NP_003168 P43405 KSYK_HUMAN spleen tyrosine kinase isoform 1 569 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 TTCTCCTATGGGCAGAAGCCA 0.468 T ETV6|ITK MDS|peripheral T-cell lymphoma 22 53 --- --- --- --- PASS PALM2-AKAP2 445815 broad.mit.edu 37 9 112900186 112900186 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr9:112900186G>T uc004bei.2 + 9 3250 c.3058G>T c.(3058-3060)GGG>TGG p.G1020W PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.G788W|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.G788W|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.G598W|AKAP2_uc011lwi.1_Missense_Mutation_p.G646W|AKAP2_uc004bem.2_Missense_Mutation_p.G646W|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.G606W|AKAP2_uc011lwj.1_Missense_Mutation_p.G557W|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.G557W NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 557 enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CTCCACGCTGGGGGACTCTCC 0.552 24 72 --- --- --- --- PASS CRB2 286204 broad.mit.edu 37 9 126128327 126128327 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr9:126128327G>T uc004bnx.1 + 3 642 c.550G>T c.(550-552)GAC>TAC p.D184Y CRB2_uc004bnw.1_Missense_Mutation_p.D184Y NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 184 Extracellular (Potential).|EGF-like 4; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TTGCCAGCTGGACCTCGACGA 0.751 5 9 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15655666 15655666 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:15655666C>A uc001ioc.1 - 15 1546 c.1546G>T c.(1546-1548)GCT>TCT p.A516S ITGA8_uc010qcb.1_Missense_Mutation_p.A501S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 516 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CACCAGGCAGCAGATGTCATA 0.274 49 223 --- --- --- --- PASS ZNF32 7580 broad.mit.edu 37 10 44139991 44139991 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:44139991C>A uc001jbb.2 - 3 518 c.329G>T c.(328-330)TGT>TTT p.C110F uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.C110F NM_001005368 NP_001005368 P17041 ZNF32_HUMAN zinc finger protein 32 110 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) GCTTTTTCCACAGTGGGTGCA 0.468 30 112 --- --- --- --- PASS LIPK 643414 broad.mit.edu 37 10 90486621 90486621 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:90486621C>A uc010qmv.1 + 2 175 c.175C>A c.(175-177)CTT>ATT p.L59I NM_001080518 NP_001073987 Q5VXJ0 LIPK_HUMAN lipase, family member K precursor 59 lipid catabolic process extracellular region hydrolase activity ovary(2) 2 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TGGTTATATCCTTGGAATTTA 0.343 10 19 --- --- --- --- PASS HTR7 3363 broad.mit.edu 37 10 92509212 92509212 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:92509212C>T uc001kha.2 - 2 922 c.679G>A c.(679-681)GAT>AAT p.D227N HTR7_uc001kgz.2_Missense_Mutation_p.D227N|HTR7_uc001khb.2_Missense_Mutation_p.D227N NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 227 Extracellular (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) ACCTTATCATCATTTACATTC 0.468 27 98 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96522558 96522558 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:96522558C>A uc010qnz.1 + 1 96 c.96C>A c.(94-96)GGC>GGA p.G32G CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 32 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCCCTCCTGGCCCTACTCCTC 0.453 64 178 --- --- --- --- PASS DNTT 1791 broad.mit.edu 37 10 98092315 98092315 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:98092315C>A uc001kmf.2 + 9 1491 c.1321C>A c.(1321-1323)CGT>AGT p.R441S DNTT_uc001kmg.2_Missense_Mutation_p.R441S NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 441 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) CCCCTACGAGCGTCGTGCCTT 0.547 86 303 --- --- --- --- PASS CRTAC1 55118 broad.mit.edu 37 10 99683113 99683113 + Silent SNP G T T rs147289538 byFrequency TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:99683113G>T uc001kou.1 - 4 822 c.466C>A c.(466-468)CGG>AGG p.R156R CRTAC1_uc001kov.2_Silent_p.R145R|CRTAC1_uc001kot.1_5'UTR NM_018058 NP_060528 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 precursor 156 proteinaceous extracellular matrix calcium ion binding ovary(4)|pancreas(1) 5 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TCTTCCCACCGGTTATTGCGG 0.592 36 99 --- --- --- --- PASS LBX1 10660 broad.mit.edu 37 10 102987419 102987419 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:102987419G>A uc001ksx.2 - 2 599 c.454C>T c.(454-456)CCC>TCC p.P152S uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 152 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) CGATCGGCGGGGGACAGGTAC 0.592 31 176 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128147646 128147646 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:128147646G>T uc001ljq.2 - 6 1981 c.1860C>A c.(1858-1860)ACC>ACA p.T620T C10orf90_uc001ljp.2_Silent_p.T476T|C10orf90_uc010qum.1_Silent_p.T717T|C10orf90_uc001ljo.2_RNA NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 620 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GCTTCTTGCTGGTGCGGATGG 0.572 33 52 --- --- --- --- PASS VENTX 27287 broad.mit.edu 37 10 135053756 135053756 + Silent SNP G T T rs56130458 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr10:135053756G>T uc010quy.1 + 3 734 c.723G>T c.(721-723)CTG>CTT p.L241L NM_014468 NP_055283 O95231 VENTX_HUMAN VENT homeobox 241 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) GACCAGCCCTGTCCACGGGGC 0.682 13 33 --- --- --- --- PASS PDDC1 347862 broad.mit.edu 37 11 771358 771358 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:771358C>T uc001lrc.2 - 6 544 c.519G>A c.(517-519)GTG>GTA p.V173V PDDC1_uc010qwm.1_Silent_p.V123V|PDDC1_uc001lrd.2_Silent_p.V173V|PDDC1_uc001lrf.1_Silent_p.*151*|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.V123V|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.V137V|PDDC1_uc010qwq.1_Silent_p.V87V|PDDC1_uc010qwr.1_Silent_p.V173V|PDDC1_uc010qws.1_Silent_p.V123V NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 173 extracellular region 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGAATCCTTCACGAAGTCCT 0.687 5 13 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406221 55406221 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:55406221T>C uc010rij.1 + 1 388 c.388T>C c.(388-390)TAC>CAC p.Y130H NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GCCCCTGCACTACACCATTAT 0.428 53 164 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406499 55406499 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:55406499C>A uc010rij.1 + 1 666 c.666C>A c.(664-666)ACC>ACA p.T222T NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TATTGTATACCATCAGAGCAT 0.373 69 142 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563225 55563225 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:55563225T>A uc010rim.1 + 1 194 c.194T>A c.(193-195)CTT>CAT p.L65H NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TACTTTTTCCTTAGTCACCTC 0.378 67 166 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761370 55761370 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:55761370G>T uc010riv.1 - 1 732 c.732C>A c.(730-732)CAC>CAA p.H244Q NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TGGCTGTCAGGTGAGAGGCAC 0.493 17 86 --- --- --- --- PASS OR5M10 390167 broad.mit.edu 37 11 56345080 56345080 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:56345080C>A uc001niz.1 - 1 118 c.118G>T c.(118-120)GCA>TCA p.A40S NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGTTGCCTGCCAGTGTGATT 0.478 45 174 --- --- --- --- PASS OR9I1 219954 broad.mit.edu 37 11 57886859 57886859 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:57886859G>T uc001nml.1 - 1 58 c.58C>A c.(58-60)CAC>AAC p.H20N OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) AATTTGGGGTGGTCCATAAAG 0.423 6 83 --- --- --- --- PASS OR9Q1 219956 broad.mit.edu 37 11 57947632 57947632 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:57947632C>A uc001nmj.2 + 3 1032 c.716C>A c.(715-717)ACC>AAC p.T239N NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) ACCTTCTCCACCTGCACCTCC 0.522 36 271 --- --- --- --- PASS MS4A12 54860 broad.mit.edu 37 11 60268610 60268610 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:60268610C>A uc001npr.2 + 3 426 c.369C>A c.(367-369)GCC>GCA p.A123A NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 123 Helical; (Potential). integral to membrane receptor activity 0 TAGGTTTTGCCTCTACTGCTG 0.393 73 233 --- --- --- --- PASS TMEM216 51259 broad.mit.edu 37 11 61165333 61165333 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:61165333A>T uc010rlj.1 + 4 589 c.296A>T c.(295-297)TAC>TTC p.Y99F TMEM216_uc001nrn.1_Missense_Mutation_p.Y45F NM_016499 NP_057583 Q9P0N5 TM216_HUMAN transmembrane protein 216 99 Helical; (Potential). integral to membrane 0 GCCTCCTATTACCTGCTGCTG 0.527 66 176 --- --- --- --- PASS SLC3A2 6520 broad.mit.edu 37 11 62655847 62655847 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:62655847G>A uc001nwd.2 + 12 1799 c.1575G>A c.(1573-1575)CGG>CGA p.R525R SLC3A2_uc001nwb.2_Silent_p.R556R|SLC3A2_uc001nwc.2_Silent_p.R526R|SLC3A2_uc001nwe.2_Silent_p.R494R|SLC3A2_uc001nwf.2_Silent_p.R463R|SLC3A2_uc001nwg.2_Silent_p.R424R NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 525 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 TGTTCCGGCGGCTGAGTGACC 0.587 54 83 --- --- --- --- PASS PLCB3 5331 broad.mit.edu 37 11 64022421 64022421 + Nonsense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:64022421G>T uc001nzb.2 + 4 298 c.298G>T c.(298-300)GAG>TAG p.E100* PLCB3_uc009ypg.1_Nonsense_Mutation_p.E100*|PLCB3_uc009yph.1_Intron|PLCB3_uc009ypi.2_Nonsense_Mutation_p.E100* NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 100 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 TGCCCGGCTGGAGGAGAAGCT 0.617 9 52 --- --- --- --- PASS PLCB3 5331 broad.mit.edu 37 11 64028885 64028885 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:64028885G>T uc001nzb.2 + 15 1745 c.1745G>T c.(1744-1746)AGC>ATC p.S582I PLCB3_uc009ypg.1_Missense_Mutation_p.S582I|PLCB3_uc009yph.1_Missense_Mutation_p.S515I|PLCB3_uc009ypi.2_Missense_Mutation_p.S582I NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 582 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 ACAGCCAGCAGCGAGGTGAAT 0.607 9 71 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64418069 64418069 + Nonsense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:64418069A>T uc001oar.2 - 16 3399 c.2960T>A c.(2959-2961)TTG>TAG p.L987* NRXN2_uc001oas.2_Nonsense_Mutation_p.L947*|NRXN2_uc001oaq.2_Nonsense_Mutation_p.L654* NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCCCTTCATCAAGGACGGGCC 0.587 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 149 --- --- --- --- PASS NADSYN1 55191 broad.mit.edu 37 11 71189499 71189499 + Nonsense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:71189499C>A uc001oqn.2 + 10 983 c.857C>A c.(856-858)TCA>TAA p.S286* NADSYN1_uc001oqo.2_Nonsense_Mutation_p.S26*|NADSYN1_uc001oqp.2_5'Flank NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 286 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCGGAGATTTCATCTCGAAAC 0.572 5 21 --- --- --- --- PASS MAP6 4135 broad.mit.edu 37 11 75298590 75298590 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:75298590G>T uc001owu.2 - 4 2021 c.1956C>A c.(1954-1956)GCC>GCA p.A652A NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 652 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) CTGTGGCCATGGCACTTTCAT 0.502 22 164 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92714979 92714979 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:92714979G>A uc001pdk.1 + 2 693 c.590G>A c.(589-591)AGC>AAC p.S197N NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 197 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CAGACCGCCAGCACCCAGTAC 0.607 15 44 --- --- --- --- PASS CWC15 51503 broad.mit.edu 37 11 94704172 94704172 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:94704172G>A uc001pfd.3 - 4 425 c.302C>T c.(301-303)GCC>GTC p.A101V CWC15_uc009ywl.1_3'UTR|KDM4D_uc001pfe.2_5'Flank NM_016403 NP_057487 Q9P013 CWC15_HUMAN CWC15 homolog 101 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome protein binding|RNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATCAAGGTTGGCGGCAGGAAT 0.368 62 129 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105804490 105804490 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:105804490C>A uc001pix.2 + 14 2535 c.2089C>A c.(2089-2091)CGA>AGA p.R697R GRIA4_uc001piw.2_Silent_p.R697R|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 697 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GACCTACATGCGATCAGCAGA 0.403 9 37 --- --- --- --- PASS USP28 57646 broad.mit.edu 37 11 113679924 113679924 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:113679924C>A uc001poh.2 - 17 2058 c.2025G>T c.(2023-2025)GTG>GTT p.V675V USP28_uc001pog.2_Silent_p.V383V|USP28_uc010rwy.1_Silent_p.V550V|USP28_uc001poi.2_Silent_p.V30V NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 675 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GCTTGAGTTCCACAGATAGGG 0.453 80 585 --- --- --- --- PASS CCDC15 80071 broad.mit.edu 37 11 124875010 124875010 + Silent SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:124875010A>G uc001qbm.3 + 13 2572 c.2313A>G c.(2311-2313)CAA>CAG p.Q771Q NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 771 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) tttagcgtcaaaagcagtacc 0.144 4 8 --- --- --- --- PASS DCPS 28960 broad.mit.edu 37 11 126176543 126176543 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr11:126176543G>T uc001qdp.2 + 2 609 c.280G>T c.(280-282)GTG>TTG p.V94L NM_014026 NP_054745 Q96C86 DCPS_HUMAN mRNA decapping enzyme 94 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) GGTGGAACAGGTGGCTCAGCT 0.547 12 44 --- --- --- --- PASS ERC1 23085 broad.mit.edu 37 12 1292459 1292459 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:1292459G>A uc001qjb.2 + 11 2270 c.2029G>A c.(2029-2031)GAT>AAT p.D677N ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.D649N|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.D677N|ERC1_uc010sdv.1_Missense_Mutation_p.D425N|ERC1_uc009zdp.2_Missense_Mutation_p.D317N NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 677 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TTCACTTTTGGATCTGAAAGA 0.343 29 74 --- --- --- --- PASS AICDA 57379 broad.mit.edu 37 12 8757847 8757847 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:8757847G>C uc001qur.2 - 3 470 c.391C>G c.(391-393)CGC>GGC p.R131G AICDA_uc001qup.1_Missense_Mutation_p.R126G|AICDA_uc001quq.1_Missense_Mutation_p.R126G|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 131 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) ACCCCGGCGCGGTGCAGCCGC 0.642 Immune_Deficiency_with_Hyper-IgM 8 39 --- --- --- --- PASS GUCY2C 2984 broad.mit.edu 37 12 14849359 14849359 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:14849359C>T uc001rcd.2 - 1 161 c.24G>A c.(22-24)TTG>TTA p.L8L GUCY2C_uc009zhz.2_Silent_p.L8L NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 8 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 ACCACAAAGCCAAGTCCAACA 0.532 16 47 --- --- --- --- PASS PLCZ1 89869 broad.mit.edu 37 12 18854483 18854483 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:18854483T>A uc010sid.1 - 9 1160 c.969A>T c.(967-969)GAA>GAT p.E323D PLCZ1_uc001rdv.3_Missense_Mutation_p.E219D|PLCZ1_uc001rdw.3_Missense_Mutation_p.E64D|PLCZ1_uc001rdu.1_Missense_Mutation_p.E105D|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 323 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTACCCCTGTTTCCTTGTCTT 0.259 27 154 --- --- --- --- PASS KCNJ8 3764 broad.mit.edu 37 12 21926429 21926429 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:21926429C>T uc001rff.2 - 2 460 c.122G>A c.(121-123)GGG>GAG p.G41E NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 41 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) GTTGCAGGCCCCGCTCTTGGC 0.622 OREG0021704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 105 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26810795 26810795 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:26810795C>A uc001rhg.2 - 18 2454 c.2037G>T c.(2035-2037)ATG>ATT p.M679I NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 679 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TGGAGCTCTCCATGGGGTTGT 0.398 36 120 --- --- --- --- PASS KRT18 3875 broad.mit.edu 37 12 53343127 53343127 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:53343127G>A uc001sbe.2 + 2 239 c.170G>A c.(169-171)GGC>GAC p.G57D KRT18_uc009zmn.1_Missense_Mutation_p.G57D|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.G57D|KRT18_uc009zmo.2_Missense_Mutation_p.G57D|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 57 Head. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 TTCAGGGGCGGCATGGGGTCC 0.697 3 41 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57592399 57592399 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:57592399G>A uc001snd.2 + 60 10088 c.9622G>A c.(9622-9624)GCC>ACC p.A3208T NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3208 LDL-receptor class B 29.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGGGCCGACGCCCGCGAGGA 0.602 6 23 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 64057611 64057611 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:64057611G>A uc001srp.1 - 3 558 c.377C>T c.(376-378)ACA>ATA p.T126I DPY19L2_uc009zqk.1_Intron NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 126 Helical; (Potential). multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTCAAAAAGTGTTACTAAATG 0.303 30 86 --- --- --- --- PASS KCNMB4 27345 broad.mit.edu 37 12 70760767 70760767 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:70760767G>C uc001svx.2 + 1 706 c.253G>C c.(253-255)GTC>CTC p.V85L NM_014505 NP_055320 Q86W47 KCMB4_HUMAN calcium-activated potassium channel beta 4 85 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding 0 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GTACCCCTGCGTCCAGGTCTA 0.637 21 152 --- --- --- --- PASS SYT1 6857 broad.mit.edu 37 12 79693310 79693310 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:79693310G>T uc001sys.2 + 9 1460 c.789G>T c.(787-789)CTG>CTT p.L263L SYT1_uc001syt.2_Silent_p.L263L|SYT1_uc001syu.2_Silent_p.L260L|SYT1_uc001syv.2_Silent_p.L263L NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 263 Cytoplasmic (Potential).|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 GGCGTGACCTGCAAAGTGCTG 0.393 40 104 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104089553 104089553 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:104089553C>T uc001tjw.2 + 33 3699 c.3513C>T c.(3511-3513)GCC>GCT p.A1171A NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1171 Extracellular (Potential).|FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTGCCGATGCCTACACAGTGT 0.448 24 65 --- --- --- --- PASS MTERFD3 80298 broad.mit.edu 37 12 107372288 107372288 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:107372288C>T uc001tme.1 - 2 2024 c.205G>A c.(205-207)GTA>ATA p.V69I MTERFD3_uc001tmf.1_Missense_Mutation_p.V69I|MTERFD3_uc001tmg.1_Missense_Mutation_p.V69I|MTERFD3_uc001tmh.1_Missense_Mutation_p.V69I NM_025198 NP_079474 Q49AM1 MTER3_HUMAN transcription termination factor-like protein 69 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding 0 TCTAAAAGTACCCATCCTTTT 0.373 67 132 --- --- --- --- PASS CORO1C 23603 broad.mit.edu 37 12 109095058 109095058 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:109095058C>A uc001tnj.2 - 2 133 c.37G>T c.(37-39)GTA>TTA p.V13L CORO1C_uc009zva.2_Missense_Mutation_p.V66L|CORO1C_uc010sxf.1_Missense_Mutation_p.V13L NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 13 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 TGCCCAAATACATGCCGAAAC 0.443 28 118 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113556992 113556992 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:113556992G>T uc001tum.1 - 8 876 c.583C>A c.(583-585)CCA>ACA p.P195T RASAL1_uc010syp.1_Missense_Mutation_p.P195T|RASAL1_uc001tul.2_Missense_Mutation_p.P195T|RASAL1_uc001tun.1_Missense_Mutation_p.P195T|RASAL1_uc010syq.1_Missense_Mutation_p.P195T|RASAL1_uc001tuo.3_Missense_Mutation_p.P195T|RASAL1_uc010syr.1_Missense_Mutation_p.P195T NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 195 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 ACCCGCAGTGGGGACGGGGCA 0.597 63 104 --- --- --- --- PASS LRRC43 254050 broad.mit.edu 37 12 122669155 122669155 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:122669155G>T uc009zxm.2 + 2 265 c.240G>T c.(238-240)ACG>ACT p.T80T LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 80 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GAGAGGAGACGGTGGAGGCCC 0.597 16 27 --- --- --- --- PASS KNTC1 9735 broad.mit.edu 37 12 123060176 123060176 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:123060176G>T uc001ucv.2 + 28 2632 c.2469G>T c.(2467-2469)CTG>CTT p.L823L KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 823 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AACAGCACCTGGAAATGGACC 0.428 5 17 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 130184949 130184949 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:130184949A>T uc009zyl.1 - 2 702 c.374T>A c.(373-375)CTT>CAT p.L125H NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 125 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTTCCAGTTAAGAGAAAATTT 0.512 20 59 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 130185002 130185002 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr12:130185002G>T uc009zyl.1 - 2 649 c.321C>A c.(319-321)CCC>CCA p.P107P NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 107 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTAAATCCTGGGGCACCACTT 0.498 28 78 --- --- --- --- PASS XPO4 64328 broad.mit.edu 37 13 21361694 21361694 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr13:21361694G>A uc001unq.3 - 21 3127 c.3091C>T c.(3091-3093)CCG>TCG p.P1031S NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 1031 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TCAGCTAACGGTGTCAAGGCC 0.423 36 91 --- --- --- --- PASS OLFM4 10562 broad.mit.edu 37 13 53603174 53603174 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr13:53603174A>T uc001vhl.2 + 1 203 c.203A>T c.(202-204)CAG>CTG p.Q68L OLFM4_uc001vhk.1_Missense_Mutation_p.Q68L NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 68 Ser-rich. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TCTGTGTCCCAGGTGAGGAGG 0.368 28 66 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70456586 70456586 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr13:70456586G>T uc001vip.2 - 5 1850 c.1056C>A c.(1054-1056)CTC>CTA p.L352L KLHL1_uc010thm.1_Silent_p.L291L NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 352 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CAGCTGGAAGGAGTAAAAACT 0.383 32 63 --- --- --- --- PASS GPR180 160897 broad.mit.edu 37 13 95278296 95278296 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr13:95278296A>T uc001vly.2 + 8 1241 c.1163A>T c.(1162-1164)AAG>ATG p.K388M GPR180_uc001vlz.2_Missense_Mutation_p.K287M|GPR180_uc010afi.2_Missense_Mutation_p.K149M NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor 388 integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) CAAAGAGACAAGGTAAGAAAT 0.313 19 55 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20248545 20248545 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:20248545G>A uc010tku.1 + 1 64 c.64G>A c.(64-66)GAG>AAG p.E22K NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCAGACTCGGGAGGTCCAACT 0.373 154 275 --- --- --- --- PASS OR4L1 122742 broad.mit.edu 37 14 20529020 20529020 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:20529020G>A uc001vwn.1 + 1 817 c.817G>A c.(817-819)GTA>ATA p.V273I NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AACTCTTGCCGTATTTTATAC 0.368 114 116 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23855646 23855646 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:23855646C>A uc001wjv.2 - 33 4904 c.4837G>T c.(4837-4839)GTC>TTC p.V1613F NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1613 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ACCCTCAGGACCTCGTTGCGG 0.597 100 106 --- --- --- --- PASS NOVA1 4857 broad.mit.edu 37 14 27064669 27064669 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:27064669T>A uc001wpy.2 - 2 545 c.227A>T c.(226-228)CAA>CTA p.Q76L NOVA1_uc001wpz.2_Missense_Mutation_p.Q76L|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Missense_Mutation_p.Q76L NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 76 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) AGTTTCTTTTTGCAACTGAAC 0.423 82 97 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71568781 71568781 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:71568781C>A uc001xmo.2 + 31 6110 c.5664C>A c.(5662-5664)AAC>AAA p.N1888K PCNX_uc010are.1_Missense_Mutation_p.N1777K|PCNX_uc010arf.1_Missense_Mutation_p.N676K|PCNX_uc001xmp.2_5'UTR NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1888 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATGAGAAGAACCTCGTAATAG 0.438 77 119 --- --- --- --- PASS RGS6 9628 broad.mit.edu 37 14 72431529 72431529 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:72431529T>A uc001xna.3 + 2 544 c.21T>A c.(19-21)GAT>GAA p.D7E RGS6_uc010ttn.1_Missense_Mutation_p.D7E|RGS6_uc001xmx.3_Missense_Mutation_p.D7E|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.D7E NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 7 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GATCCGGGGATCAAAGAGCAG 0.473 53 88 --- --- --- --- PASS SERPINA11 256394 broad.mit.edu 37 14 94914513 94914513 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:94914513C>T uc001ydd.1 - 2 659 c.599G>A c.(598-600)AGC>AAC p.S200N NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 200 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) CGTGTCCTGGCTGAACTCCGG 0.468 118 131 --- --- --- --- PASS EVL 51466 broad.mit.edu 37 14 100603959 100603959 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:100603959C>G uc001ygt.2 + 10 1242 c.1003C>G c.(1003-1005)CCT>GCT p.P335A EVL_uc001ygv.2_Missense_Mutation_p.P341A|EVL_uc001ygu.2_Missense_Mutation_p.P337A|EVL_uc010avu.2_Missense_Mutation_p.P194A NM_016337 NP_057421 Q9UI08 EVL_HUMAN Enah/Vasp-like 335 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding large_intestine(2)|ovary(1) 3 Melanoma(154;0.152) GGTGGAGAAGCCTGTGTCCTC 0.612 43 44 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106757699 106757699 + RNA SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr14:106757699A>T uc010tyt.1 - 472 c.16366T>A Parts of antibodies, mostly variable regions. 0 CATGTTGGTCATGGTAAGGAC 0.502 126 136 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20657624 20657624 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:20657624T>A uc001ytg.2 - 16 2354 c.1645A>T c.(1645-1647)ATT>TTT p.I549F uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.I549F|uc010tyy.1_Missense_Mutation_p.I549F|uc010tyz.1_3'UTR RecName: Full=Putative HERC2-like protein 3; GACCTACCAATCAGGCGCAGT 0.463 5 46 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931648 23931648 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:23931648G>T uc001ywk.2 - 1 803 c.717C>A c.(715-717)TTC>TTA p.F239L NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 239 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCATTTGGACGAACTCCTCAG 0.607 Prader-Willi_syndrome 3 81 --- --- --- --- PASS SNRPN 6638 broad.mit.edu 37 15 25223422 25223422 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:25223422C>A uc001ywp.1 + 12 1532 c.642C>A c.(640-642)GGC>GGA p.G214G SNRPN_uc001ywq.1_Silent_p.G214G|SNRPN_uc001ywr.1_Silent_p.G214G|SNRPN_uc001yws.1_Silent_p.G214G|SNRPN_uc001ywt.1_Silent_p.G214G|SNRPN_uc001ywv.1_Silent_p.G217G|SNRPN_uc001yww.1_Silent_p.G214G|SNRPN_uc001ywx.1_Silent_p.G214G|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 214 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CGCCAATAGGCATGCCGCCTC 0.567 Prader-Willi_syndrome 64 218 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27271912 27271912 + Missense_Mutation SNP G T T rs79497756 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:27271912G>T uc001zbg.1 + 3 380 c.214G>T c.(214-216)GTA>TTA p.V72L GABRG3_uc001zbf.2_Missense_Mutation_p.V72L NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 72 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AAAACCGACCGTAATTGACGT 0.398 13 47 --- --- --- --- PASS ARHGAP11A 9824 broad.mit.edu 37 15 32929009 32929009 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:32929009A>T uc001zgy.1 + 12 2757 c.2035A>T c.(2035-2037)ACT>TCT p.T679S ARHGAP11A_uc010ubw.1_Missense_Mutation_p.T490S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.T490S NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 679 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) ACCCCTTCAAACTCAAACATT 0.303 19 71 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33927899 33927899 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:33927899G>T uc001zhi.2 + 26 3330 c.3260G>T c.(3259-3261)TGG>TTG p.W1087L RYR3_uc010bar.2_Missense_Mutation_p.W1087L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1087 B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats. 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) TCTGGAAAGTGGTATTTTGAG 0.532 16 59 --- --- --- --- PASS ACTC1 70 broad.mit.edu 37 15 35086886 35086886 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:35086886G>T uc001ziu.1 - 2 367 c.124C>A c.(124-126)CAC>AAC p.H42N uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 42 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTTACCTGGTGCCGCGGGCGG 0.667 9 24 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35198840 35198840 + Silent SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:35198840C>A uc001ziv.2 - 18 1918 c.1737G>T c.(1735-1737)CGG>CGT p.R579R NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 579 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AAGGTCTCCTCCGGTCAAACT 0.418 41 129 --- --- --- --- PASS TMCO5A 145942 broad.mit.edu 37 15 38243320 38243320 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:38243320C>A uc001zjw.2 + 11 855 c.752C>A c.(751-753)CCA>CAA p.P251Q TMCO5A_uc001zjv.1_Intron NM_152453 NP_689666 Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 251 integral to membrane central_nervous_system(1) 1 TTCATAAATCCAGATCTCCTC 0.423 49 164 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 41961148 41961148 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:41961148G>C uc001zog.1 + 2 147 c.56G>C c.(55-57)GGA>GCA p.G19A MGA_uc010ucy.1_Missense_Mutation_p.G19A|MGA_uc010ucz.1_Missense_Mutation_p.G19A NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 19 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ACAGTGGCAGGAGCAGCACCT 0.423 27 132 --- --- --- --- PASS PLA2G4F 255189 broad.mit.edu 37 15 42439900 42439900 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:42439900C>A uc001zoz.2 - 12 1183 c.1120G>T c.(1120-1122)GGC>TGC p.G374C PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.G6C|PLA2G4F_uc010bcr.2_Missense_Mutation_p.G125C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.G125C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.G161C NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 374 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GCCAGGCTGCCGTACAGAGAA 0.582 32 84 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48594977 48594977 + Silent SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:48594977A>T uc001zwn.3 + 27 3411 c.3195A>T c.(3193-3195)ATA>ATT p.I1065I SLC12A1_uc001zwq.3_Silent_p.I836I|SLC12A1_uc001zwr.3_Silent_p.I792I NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 1065 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AGGGATCCATATCGGATTTGT 0.368 32 126 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49061206 49061206 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:49061206C>A uc001zwy.2 - 14 1889 c.1855G>T c.(1855-1857)GAT>TAT p.D619Y CEP152_uc001zwz.2_Missense_Mutation_p.D619Y|CEP152_uc001zxa.1_Missense_Mutation_p.D526Y NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 619 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AGAATATCATCTCTGACAACA 0.274 13 47 --- --- --- --- PASS TRPM7 54822 broad.mit.edu 37 15 50866531 50866531 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:50866531C>G uc001zyt.3 - 36 5512 c.5248G>C c.(5248-5250)GCC>CCC p.A1750P TRPM7_uc001zyr.2_Missense_Mutation_p.A187P NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 1750 Cytoplasmic (Potential).|Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TGGCTAAAGGCTAGCATGATC 0.348 28 132 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52667601 52667601 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:52667601C>G uc002aby.2 - 20 2721 c.2477G>C c.(2476-2478)CGC>CCC p.R826P MYO5A_uc002abx.3_Missense_Mutation_p.R826P|MYO5A_uc010uge.1_Missense_Mutation_p.R695P NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 826 IQ 3. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CACATACATGCGCCAGTACTT 0.443 22 84 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 53957876 53957876 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:53957876T>A uc002acj.2 - 14 1897 c.1855A>T c.(1855-1857)ATT>TTT p.I619F WDR72_uc010bfi.1_Missense_Mutation_p.I619F NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 619 lung(1)|skin(1) 2 all cancers(107;0.0511) TCTGAGGCAATGGGAAGTACA 0.458 42 123 --- --- --- --- PASS RNF111 54778 broad.mit.edu 37 15 59377922 59377922 + Silent SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:59377922T>C uc002afv.2 + 10 2767 c.2488T>C c.(2488-2490)TTG>CTG p.L830L RNF111_uc002afs.2_Silent_p.L830L|RNF111_uc002aft.2_Silent_p.L839L|RNF111_uc002afu.2_Silent_p.L829L|RNF111_uc002afw.2_Silent_p.L839L|RNF111_uc002afx.2_Silent_p.L356L|RNF111_uc002afy.2_5'UTR NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 830 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) GCATCCTCACTTGGCCCATTA 0.408 39 119 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 63952040 63952040 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:63952040G>C uc002amp.2 - 47 9467 c.9319C>G c.(9319-9321)CGC>GGC p.R3107G NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3107 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GGTACAATGCGCCGGTCATTT 0.468 17 78 --- --- --- --- PASS DENND4A 10260 broad.mit.edu 37 15 66030127 66030127 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:66030127G>A uc002aph.2 - 7 1336 c.958C>T c.(958-960)CCT>TCT p.P320S DENND4A_uc002api.2_Missense_Mutation_p.P320S|DENND4A_uc002apj.3_Missense_Mutation_p.P320S|DENND4A_uc010ujj.1_Missense_Mutation_p.P320S NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 320 DENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TCAAAAAAAGGCCAGTGAGAA 0.383 3 11 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78471983 78471983 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:78471983C>A uc002bdh.2 - 10 1449 c.1393G>T c.(1393-1395)GGT>TGT p.G465C ACSBG1_uc010umw.1_Missense_Mutation_p.G461C|ACSBG1_uc010umx.1_Missense_Mutation_p.G223C NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 465 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 ATGTTGAGACCCAGGAAGAAG 0.572 25 67 --- --- --- --- PASS MORF4L1 10933 broad.mit.edu 37 15 79172853 79172853 + Splice_Site SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:79172853G>A uc002bel.2 + 3 276 c.88_splice c.e3-1 p.C30_splice MORF4L1_uc010bli.1_Splice_Site_p.C30_splice|MORF4L1_uc010blj.1_Splice_Site_p.C30_splice|MORF4L1_uc002bem.2_Splice_Site_p.C30_splice|MORF4L1_uc010une.1_Splice_Site NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 TTGAATTTCAGTGTGTAAAGG 0.289 13 45 --- --- --- --- PASS KLHL25 64410 broad.mit.edu 37 15 86311564 86311564 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr15:86311564T>C uc002bly.2 - 2 1681 c.1478A>G c.(1477-1479)CAG>CGG p.Q493R NM_022480 NP_071925 Q9H0H3 ENC2_HUMAN BTB/POZ KELCH domain protein 493 cytoplasm ovary(2) 2 GATGAAGATCTGGCTGCCCAG 0.617 33 90 --- --- --- --- PASS MSLNL 401827 broad.mit.edu 37 16 822922 822922 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:822922C>A uc002cjz.1 - 11 2263 c.2263G>T c.(2263-2265)GCC>TCC p.A755S NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 404 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 ACGTCGGAGGCCAGCAGAGCC 0.687 17 34 --- --- --- --- PASS CHTF18 63922 broad.mit.edu 37 16 841264 841264 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:841264G>T uc002cke.3 + 8 1061 c.998G>T c.(997-999)CGG>CTG p.R333L RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.R361L|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 333 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) GAGCCGGCCCGGGTCAGCAAG 0.657 7 7 --- --- --- --- PASS THUMPD1 55623 broad.mit.edu 37 16 20748507 20748507 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:20748507C>T uc002dho.2 - 4 895 c.757G>A c.(757-759)GTG>ATG p.V253M THUMPD1_uc010vaz.1_Missense_Mutation_p.V106M|THUMPD1_uc002dhp.2_Missense_Mutation_p.V253M NM_017736 NP_060206 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 253 THUMP. 0 TAATCTTTCACAACACTCAGG 0.418 64 123 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20994170 20994170 + Silent SNP G T T rs138051514 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:20994170G>T uc010vbe.1 - 49 7732 c.7732C>A c.(7732-7734)CGG>AGG p.R2578R DNAH3_uc010vbd.1_Silent_p.R13R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2578 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GGGAACATCCGCAGGCGGTTC 0.498 40 100 --- --- --- --- PASS ANKS4B 257629 broad.mit.edu 37 16 21261440 21261440 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:21261440C>T uc010bwp.1 + 2 596 c.553C>T c.(553-555)CCT>TCT p.P185S CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 185 ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) CAGATCATCCCCTTCAAATGC 0.473 22 72 --- --- --- --- PASS N4BP1 9683 broad.mit.edu 37 16 48594820 48594820 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:48594820C>G uc002efp.2 - 2 1971 c.1734G>C c.(1732-1734)AGG>AGC p.R578S NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 578 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) GTCCTGCCGACCTTGCATCAG 0.433 51 179 --- --- --- --- PASS RSPRY1 89970 broad.mit.edu 37 16 57261270 57261270 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:57261270G>A uc002elb.2 + 11 1456 c.1178G>A c.(1177-1179)GGG>GAG p.G393E RSPRY1_uc002elc.2_Missense_Mutation_p.G393E|RSPRY1_uc002eld.2_Missense_Mutation_p.G393E NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 393 B30.2/SPRY. extracellular region zinc ion binding ovary(1) 1 TACGGCATTGGGGATGATGAA 0.507 8 48 --- --- --- --- PASS CCDC135 84229 broad.mit.edu 37 16 57734153 57734153 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:57734153A>G uc002emi.2 + 4 564 c.475A>G c.(475-477)ATG>GTG p.M159V CCDC135_uc002emj.2_Missense_Mutation_p.M159V|CCDC135_uc002emk.2_Missense_Mutation_p.M159V NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 159 cytoplasm central_nervous_system(1) 1 CTTCCTCACCATGGTGCCCCT 0.542 26 88 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61689508 61689508 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:61689508G>T uc002eog.1 - 11 2024 c.1772C>A c.(1771-1773)ACC>AAC p.T591N NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 591 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T591T(1) ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GATTGTCAAGGTGCTAGTGCT 0.468 34 139 --- --- --- --- PASS PRMT7 54496 broad.mit.edu 37 16 68390608 68390608 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:68390608G>C uc002evy.1 + 18 2092 c.1816G>C c.(1816-1818)GGG>CGG p.G606R PRMT7_uc010vlg.1_Missense_Mutation_p.G556R|PRMT7_uc002evz.1_Missense_Mutation_p.G378R|PRMT7_uc010cfd.1_Missense_Mutation_p.G98R NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 606 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) TGACAGGCCCGGGCAGAGCCA 0.647 8 21 --- --- --- --- PASS TAT 6898 broad.mit.edu 37 16 71609830 71609830 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:71609830G>T uc002fap.2 - 3 434 c.335C>A c.(334-336)TCC>TAC p.S112Y TAT_uc002faq.2_Missense_Mutation_p.S112Y|TAT_uc002far.2_3'UTR NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 112 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CTTACCGATGGATGGGGCATA 0.488 34 133 --- --- --- --- PASS FBXO31 79791 broad.mit.edu 37 16 87393974 87393974 + Splice_Site SNP T G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr16:87393974T>G uc002fjw.2 - 2 385 c.341_splice c.e2-1 p.E114_splice FBXO31_uc010vot.1_Splice_Site|FBXO31_uc002fjv.2_Silent_p.T5T NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) CACCATACTCTGTAACAAGAA 0.493 16 61 --- --- --- --- PASS OR1A2 26189 broad.mit.edu 37 17 3101541 3101541 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:3101541C>G uc002fvd.1 + 1 729 c.729C>G c.(727-729)CAC>CAG p.H243Q NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GTGGCTCCCACCTCACAGTTG 0.438 88 252 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577551 7577551 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:7577551C>A uc002gim.2 - 7 924 c.730G>T c.(730-732)GGC>TGC p.G244C TP53_uc002gig.1_Missense_Mutation_p.G244C|TP53_uc002gih.2_Missense_Mutation_p.G244C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112C|TP53_uc010cng.1_Missense_Mutation_p.G112C|TP53_uc002gii.1_Missense_Mutation_p.G112C|TP53_uc010cnh.1_Missense_Mutation_p.G244C|TP53_uc010cni.1_Missense_Mutation_p.G244C|TP53_uc002gij.2_Missense_Mutation_p.G244C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151C|TP53_uc002gio.2_Missense_Mutation_p.G112C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 244 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCATGCCGCCCATGCAGGAA 0.582 111 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) 16 74 --- --- --- --- PASS CHD3 1107 broad.mit.edu 37 17 7801302 7801302 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:7801302G>T uc002gje.2 + 12 2083 c.1933G>T c.(1933-1935)GGG>TGG p.G645W CHD3_uc002gjd.2_Missense_Mutation_p.G704W|CHD3_uc002gjf.2_Missense_Mutation_p.G645W|CHD3_uc002gjg.1_Missense_Mutation_p.G473W NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 645 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GGATAAAAAGGGGAATTACCA 0.448 60 197 --- --- --- --- PASS NTN1 9423 broad.mit.edu 37 17 8926186 8926186 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:8926186G>T uc002glw.3 + 2 603 c.496G>T c.(496-498)GAC>TAC p.D166Y NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 166 Laminin N-terminal. apoptosis|axon guidance protein binding 0 CAAGTCCATGGACTACGGGCG 0.622 3 26 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10446460 10446460 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:10446460G>T uc010coi.2 - 9 888 c.760C>A c.(760-762)CAC>AAC p.H254N uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.H254N|MYH2_uc010coj.2_Missense_Mutation_p.H254N NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 254 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GTGCCAAAGTGGATTCTGATG 0.294 42 154 --- --- --- --- PASS TEKT3 64518 broad.mit.edu 37 17 15234560 15234560 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:15234560G>T uc002gon.2 - 3 530 c.343C>A c.(343-345)CAT>AAT p.H115N NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 115 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TCCGAATTATGTCGGGAAGTG 0.418 69 283 --- --- --- --- PASS MPP2 4355 broad.mit.edu 37 17 41955348 41955348 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:41955348C>T uc010wip.1 - 13 1678 c.1621G>A c.(1621-1623)GCG>ACG p.A541T MPP2_uc002ien.1_Missense_Mutation_p.A513T|MPP2_uc010wim.1_Missense_Mutation_p.A485T|MPP2_uc002ieo.1_Missense_Mutation_p.A496T|MPP2_uc010win.1_Missense_Mutation_p.A357T|MPP2_uc010wio.1_Missense_Mutation_p.A485T NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 520 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CTCAGGTCCGCCTCCTGCCCA 0.627 19 43 --- --- --- --- PASS SNX11 29916 broad.mit.edu 37 17 46196335 46196335 + Splice_Site SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:46196335G>T uc002inf.1 + 7 681 c.327_splice c.e7-1 p.K109_splice SNX11_uc010wlg.1_Splice_Site_p.K101_splice|SNX11_uc010wlh.1_Splice_Site_p.K101_splice|SNX11_uc010wli.1_Splice_Site_p.K48_splice|SNX11_uc010wlj.1_Splice_Site|SNX11_uc002ing.1_Splice_Site_p.K109_splice|SNX11_uc002inh.1_Splice_Site_p.K109_splice NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN sorting nexin 11 cell communication|protein transport membrane phosphatidylinositol binding 0 GTTTTTCCCAGGGTCCTGCAG 0.552 48 149 --- --- --- --- PASS CALCOCO2 10241 broad.mit.edu 37 17 46925692 46925692 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:46925692C>T uc002iof.2 + 4 371 c.292C>T c.(292-294)CTG>TTG p.L98L CALCOCO2_uc010wlp.1_Silent_p.L119L|CALCOCO2_uc010wlq.1_Silent_p.L26L|CALCOCO2_uc010wlr.1_Silent_p.L122L|CALCOCO2_uc010wls.1_Silent_p.L98L NM_005831 NP_005822 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 98 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity ovary(1) 1 AGCTTACTACCTGCCCAAGGA 0.398 32 78 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48262882 48262882 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:48262882C>A uc002iqm.2 - 51 4502 c.4376G>T c.(4375-4377)GGC>GTC p.G1459V NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 1459 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) GCAGACAGGGCCAACGTCGAA 0.572 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 31 122 --- --- --- --- PASS PSMC5 5705 broad.mit.edu 37 17 61908449 61908449 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:61908449A>G uc002jcb.2 + 8 774 c.733A>G c.(733-735)ATC>GTC p.I245V PSMC5_uc010ddy.2_Missense_Mutation_p.I222V|PSMC5_uc010ddz.2_Missense_Mutation_p.I166V|PSMC5_uc002jcc.2_Missense_Mutation_p.I237V|PSMC5_uc002jcd.2_Missense_Mutation_p.I237V NM_002805 NP_002796 P62195 PRS8_HUMAN proteasome 26S ATPase subunit 5 245 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding large_intestine(1) 1 TGCTCCATCTATCATCTTCAT 0.557 45 123 --- --- --- --- PASS GPRC5C 55890 broad.mit.edu 37 17 72443133 72443133 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:72443133C>G uc002jks.2 + 3 1331 c.1292C>G c.(1291-1293)TCT>TGT p.S431C GPRC5C_uc002jkp.2_Missense_Mutation_p.S476C|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.S443C|GPRC5C_uc002jkt.2_Missense_Mutation_p.S431C|GPRC5C_uc002jku.2_Missense_Mutation_p.S186C NM_018653 NP_061123 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor family C, group 5, 431 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1) 5 GGCAAGAACTCTCAGGTCTTT 0.652 41 108 --- --- --- --- PASS CD300LF 146722 broad.mit.edu 37 17 72700780 72700780 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr17:72700780C>T uc002jlg.2 - 2 322 c.219G>A c.(217-219)CAG>CAA p.Q73Q RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Silent_p.Q76Q|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Silent_p.Q73Q|CD300LF_uc002jli.2_Silent_p.Q76Q|CD300LF_uc010wra.1_Silent_p.Q73Q|CD300LF_uc002jlj.1_Silent_p.Q76Q NM_139018 NP_620587 Q8TDQ1 CLM1_HUMAN NK inhibitory receptor precursor 73 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity upper_aerodigestive_tract(1) 1 TCTTCACCTCCTGCTCTGACC 0.498 86 290 --- --- --- --- PASS TMEM200C 645369 broad.mit.edu 37 18 5891956 5891956 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:5891956T>C uc002kmx.1 - 1 148 c.107A>G c.(106-108)AAG>AGG p.K36R NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 36 integral to membrane 0 CACGTCGTTCTTGCGCCTCTT 0.612 16 42 --- --- --- --- PASS L3MBTL4 91133 broad.mit.edu 37 18 5956349 5956349 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:5956349G>C uc002kmz.3 - 20 1902 c.1742C>G c.(1741-1743)ACG>AGG p.T581R L3MBTL4_uc010dkt.2_Missense_Mutation_p.T581R|L3MBTL4_uc002kmy.3_Missense_Mutation_p.T410R NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 581 SAM. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) GACAATGTCCGTCTGTGTCAG 0.438 66 310 --- --- --- --- PASS L3MBTL4 91133 broad.mit.edu 37 18 6243368 6243368 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:6243368T>A uc002kmz.3 - 7 545 c.385A>T c.(385-387)ACC>TCC p.T129S L3MBTL4_uc010dkt.2_Missense_Mutation_p.T129S|L3MBTL4_uc002kmy.3_5'Flank NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 129 MBT 1. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) CCAGCATTGGTCCAAAAATCA 0.393 30 142 --- --- --- --- PASS L3MBTL4 91133 broad.mit.edu 37 18 6243369 6243369 + Nonsense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:6243369C>T uc002kmz.3 - 7 544 c.384G>A c.(382-384)TGG>TGA p.W128* L3MBTL4_uc010dkt.2_Nonsense_Mutation_p.W128*|L3MBTL4_uc002kmy.3_5'Flank NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 128 MBT 1. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) CAGCATTGGTCCAAAAATCAT 0.393 30 142 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6986250 6986250 + Silent SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:6986250T>A uc002knm.2 - 37 5359 c.5265A>T c.(5263-5265)TCA>TCT p.S1755S LAMA1_uc010wzj.1_Silent_p.S1231S NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1755 Domain II and I.|Potential. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTGTGCTTTGAAAGGACGT 0.478 56 221 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8069965 8069965 + Nonsense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:8069965G>T uc002knn.3 + 8 1917 c.1414G>T c.(1414-1416)GAA>TAA p.E472* PTPRM_uc010dkv.2_Nonsense_Mutation_p.E472*|PTPRM_uc010wzl.1_Nonsense_Mutation_p.E259* NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 472 Fibronectin type-III 2.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GGAAAGCCAAGAACTCATAGT 0.418 9 40 --- --- --- --- PASS AFG3L2 10939 broad.mit.edu 37 18 12344181 12344181 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:12344181C>A uc002kqz.1 - 14 1842 c.1729G>T c.(1729-1731)GGC>TGC p.G577C NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 577 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) ACCGCATGGCCTGCTTCGTGG 0.522 36 119 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13104996 13104996 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:13104996G>C uc010xac.1 + 40 7045 c.6965G>C c.(6964-6966)AGT>ACT p.S2322T CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1847T|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S744T|CEP192_uc002krw.2_Missense_Mutation_p.S471T|CEP192_uc002krx.2_Missense_Mutation_p.S326T|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2322 ovary(4)|pancreas(1) 5 GTTGATGAAAGTGGAGATGTT 0.388 36 175 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22804449 22804449 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:22804449C>A uc002kvk.2 - 4 3680 c.3433G>T c.(3433-3435)GTT>TTT p.V1145F ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.V1145F|ZNF521_uc002kvl.2_Missense_Mutation_p.V925F NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1145 C2H2-type 26. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCAAACTTAACGTTGCAGCTA 0.532 T PAX5 ALL 29 92 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30350379 30350379 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:30350379C>G uc002kxm.1 - 2 564 c.176G>C c.(175-177)CGA>CCA p.R59P NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 59 BTB. cytosol|endoplasmic reticulum membrane ovary(1) 1 GAAGAGCGATCGGAAGTACTG 0.592 11 33 --- --- --- --- PASS KIAA0427 9811 broad.mit.edu 37 18 46287933 46287933 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:46287933G>C uc002ldc.2 + 9 1529 c.1244G>C c.(1243-1245)CGC>CCC p.R415P KIAA0427_uc002ldd.2_Missense_Mutation_p.R417P|KIAA0427_uc002lde.3_Missense_Mutation_p.R44P NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 415 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 GAGATCGTGCGCACAATCTAC 0.592 25 78 --- --- --- --- PASS LIPG 9388 broad.mit.edu 37 18 47088747 47088747 + Silent SNP A C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:47088747A>C uc002ldv.2 + 1 321 c.69A>C c.(67-69)GTA>GTC p.V23V LIPG_uc002ldu.1_Silent_p.V23V|LIPG_uc010xdh.1_Silent_p.V23V NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 23 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 GGAGCCCCGTACCTTTTGGTC 0.562 18 66 --- --- --- --- PASS MAPK4 5596 broad.mit.edu 37 18 48255612 48255612 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:48255612G>T uc002lev.2 + 6 2152 c.1152G>T c.(1150-1152)GCG>GCT p.A384A MAPK4_uc010xdm.1_Silent_p.A173A|MAPK4_uc010doz.2_3'UTR NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 384 cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) ACCCGCGCGCGGGTTCGGCGC 0.682 20 51 --- --- --- --- PASS GALR1 2587 broad.mit.edu 37 18 74980855 74980855 + Silent SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr18:74980855G>A uc002lms.3 + 3 1544 c.1047G>A c.(1045-1047)GTG>GTA p.V349V NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 349 Cytoplasmic (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GTACTCATGTGTGATAAAAGA 0.383 26 125 --- --- --- --- PASS MEX3D 399664 broad.mit.edu 37 19 1556842 1556842 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:1556842C>A uc010dsn.2 - 2 676 c.676G>T c.(676-678)GTG>TTG p.V226L NM_203304 NP_976049 Q86XN8 MEX3D_HUMAN ring finger and KH domain containing 1 226 KH 1. mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding lung(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCCGGTCACGATGAAGACC 0.657 10 36 --- --- --- --- PASS SHD 56961 broad.mit.edu 37 19 4282913 4282913 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:4282913A>T uc002lzw.2 + 2 1807 c.344A>T c.(343-345)CAT>CTT p.H115L SHD_uc010dtu.2_Missense_Mutation_p.H115L NM_020209 NP_064594 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming 115 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCAGCCTCATCCTGCACCC 0.577 36 146 --- --- --- --- PASS KDM4B 23030 broad.mit.edu 37 19 5133937 5133937 + Silent SNP C T T rs146435915 TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:5133937C>T uc002mbq.3 + 14 2176 c.1950C>T c.(1948-1950)GAC>GAT p.D650D KDM4B_uc010xim.1_Silent_p.D684D|KDM4B_uc002mbr.3_Silent_p.D408D NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 650 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 GTGACCCGGACGCCTTGAGGC 0.612 23 87 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8966671 8966671 + Missense_Mutation SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:8966671T>C uc002mkp.2 - 81 43486 c.43282A>G c.(43282-43284)AGG>GGG p.R14428G MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R1228G|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 14526 SEA 16.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 ACACTGCTCCTGTCCAGGGTG 0.562 6 13 --- --- --- --- PASS ZNF426 79088 broad.mit.edu 37 19 9639140 9639140 + Silent SNP T C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:9639140T>C uc002mlq.2 - 8 1845 c.1581A>G c.(1579-1581)ACA>ACG p.T527T ZNF426_uc010dws.2_Silent_p.T489T NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTTTCTCTTCTGTGTGAGTTT 0.428 60 158 --- --- --- --- PASS ANGPTL6 83854 broad.mit.edu 37 19 10204093 10204093 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:10204093C>G uc002mmx.1 - 5 1272 c.1154G>C c.(1153-1155)GGA>GCA p.G385A ANGPTL6_uc002mmy.1_Missense_Mutation_p.G385A NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 385 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) AAGAGAGTCTCCAGCATCACC 0.577 34 103 --- --- --- --- PASS ILF3 3609 broad.mit.edu 37 19 10798245 10798245 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:10798245G>C uc002mpn.2 + 18 2600 c.2283G>C c.(2281-2283)CAG>CAC p.Q761H ILF3_uc002mpo.2_Missense_Mutation_p.Q765H|ILF3_uc002mpq.2_Missense_Mutation_p.R64T NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 761 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CCTACAACCAGAGCCCCTACA 0.607 6 54 --- --- --- --- PASS LDLR 3949 broad.mit.edu 37 19 11215997 11215997 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:11215997G>C uc002mqk.3 + 4 583 c.415G>C c.(415-417)GAC>CAC p.D139H LDLR_uc010xlk.1_Missense_Mutation_p.D139H|LDLR_uc010xll.1_Missense_Mutation_p.D98H|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 139 Extracellular (Potential).|LDL-receptor class A 3. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GGACGGCTCAGACGAGGCCTC 0.647 65 239 --- --- --- --- PASS CYP4F3 4051 broad.mit.edu 37 19 15770052 15770052 + Missense_Mutation SNP G C C rs118159249 by1000genomes TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:15770052G>C uc002nbj.2 + 13 1470 c.1420G>C c.(1420-1422)GCG>CCG p.A474P CYP4F3_uc010xok.1_Missense_Mutation_p.A474P|CYP4F3_uc010xol.1_Missense_Mutation_p.A474P|CYP4F3_uc010xom.1_Missense_Mutation_p.A325P|CYP4F3_uc002nbk.2_Missense_Mutation_p.A474P|CYP4F3_uc010xon.1_Missense_Mutation_p.A184P NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 474 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 GCAGGCGTTCGCGATGGCGGA 0.677 5 40 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 15989724 15989724 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:15989724C>G uc002nbs.1 - 13 1470 c.1420G>C c.(1420-1422)GCG>CCG p.A474P CYP4F2_uc010xot.1_Missense_Mutation_p.A325P NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 474 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 TCCGCCATCGCGAACGTCTGC 0.677 6 80 --- --- --- --- PASS FAM125A 93343 broad.mit.edu 37 19 17534842 17534842 + Missense_Mutation SNP A C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:17534842A>C uc002ngo.1 + 7 701 c.668A>C c.(667-669)CAC>CCC p.H223P FAM125A_uc002ngp.1_Missense_Mutation_p.H131P|FAM125A_uc002ngq.1_Missense_Mutation_p.H119P NM_138401 NP_612410 Q96EY5 F125A_HUMAN family with sequence similarity 125, member A 223 UMA.|Interaction with TSG101, VPS37B and VPS28. protein transport late endosome membrane|microtubule organizing center|nucleus SH3 domain binding 0 TTCACACTCCACCCACGATTT 0.637 18 88 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22941177 22941177 + Missense_Mutation SNP C G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:22941177C>G uc010xrh.1 - 5 1261 c.1261G>C c.(1261-1263)GAA>CAA p.E421Q NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CCACATTCTTCACATTTGCAA 0.358 20 74 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23543371 23543371 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:23543371C>A uc002nre.2 - 4 2523 c.2410G>T c.(2410-2412)GGC>TGC p.G804C ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G772C NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 804 C2H2-type 24. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AAAGCTTTGCCACATTCTTCA 0.388 37 146 --- --- --- --- PASS C19orf2 8725 broad.mit.edu 37 19 30500243 30500243 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:30500243A>G uc002nsr.2 + 8 1048 c.1018A>G c.(1018-1020)ACT>GCT p.T340A C19orf2_uc002nsq.2_Missense_Mutation_p.T322A|C19orf2_uc002nss.2_Missense_Mutation_p.T300A|C19orf2_uc002nst.2_Missense_Mutation_p.T264A NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 340 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) TTTTTCACATACTGTTGAGCC 0.224 14 83 --- --- --- --- PASS UBA2 10054 broad.mit.edu 37 19 34945244 34945244 + Missense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:34945244G>C uc002nvk.2 + 11 1188 c.1118G>C c.(1117-1119)AGA>ACA p.R373T UBA2_uc010xrx.1_Missense_Mutation_p.R246T|UBA2_uc002nvl.2_Missense_Mutation_p.R277T NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 373 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATGAAGAGTAGATTTGATATC 0.308 36 132 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38948829 38948829 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:38948829C>T uc002oit.2 + 18 2194 c.2064C>T c.(2062-2064)ACC>ACT p.T688T RYR1_uc002oiu.2_Silent_p.T688T NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 688 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGCCCTCACCGAGGGCTACA 0.627 34 101 --- --- --- --- PASS PNMAL2 57469 broad.mit.edu 37 19 46997151 46997151 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:46997151C>A uc002pes.2 - 1 2019 c.1572G>T c.(1570-1572)GAG>GAT p.E524D uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 524 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TGTCCTCCGGCTCCGACGCCT 0.741 5 42 --- --- --- --- PASS CYTH2 9266 broad.mit.edu 37 19 48976622 48976622 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:48976622G>T uc002pjj.3 + 5 721 c.421G>T c.(421-423)GTG>TTG p.V141L CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 141 SEC7. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CCTCAATCTGGTGCAGGCCCT 0.398 17 87 --- --- --- --- PASS SLC17A7 57030 broad.mit.edu 37 19 49937935 49937935 + Nonsense_Mutation SNP G C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:49937935G>C uc002pnp.2 - 5 733 c.561C>G c.(559-561)TAC>TAG p.Y187* SLC17A7_uc002pnq.1_Nonsense_Mutation_p.Y120*|SLC17A7_uc002pno.2_5'UTR NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 187 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGCAGGCGGGGTATGTGACCC 0.522 13 62 --- --- --- --- PASS FAM71E1 112703 broad.mit.edu 37 19 50978640 50978640 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:50978640G>A uc002psh.2 - 3 839 c.481C>T c.(481-483)CCG>TCG p.P161S FAM71E1_uc002psg.2_Missense_Mutation_p.P145S|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank NM_138411 NP_612420 Q6IPT2 F71E1_HUMAN hypothetical protein LOC112703 161 breast(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026) AATAGGTCCGGGAGCTCCAGG 0.652 8 16 --- --- --- --- PASS LRRC4B 94030 broad.mit.edu 37 19 51021789 51021789 + Missense_Mutation SNP A C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:51021789A>C uc002pss.2 - 3 1318 c.1181T>G c.(1180-1182)GTC>GGC p.V394G NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 394 Extracellular (Potential).|Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CAGCCAGTTGACGGAGGTCAT 0.647 6 30 --- --- --- --- PASS KLK15 55554 broad.mit.edu 37 19 51330015 51330015 + Splice_Site SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:51330015T>A uc002ptl.2 - 4 513 c.482_splice c.e4-1 p.V161_splice KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Splice_Site_p.V160_splice|KLK15_uc010ych.1_Splice_Site|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GGAGACTCACTGGGGAAGACA 0.547 43 99 --- --- --- --- PASS ZNF665 79788 broad.mit.edu 37 19 53669097 53669097 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:53669097T>A uc010eqm.1 - 4 746 c.646A>T c.(646-648)ACT>TCT p.T216S NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 151 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) GAACGAACAGTAAAGGCTTTG 0.403 64 173 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54410101 54410101 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:54410101C>T uc002qcq.1 + 18 2328 c.2046C>T c.(2044-2046)CAC>CAT p.H682H PRKCG_uc010yeg.1_Silent_p.H682H|PRKCG_uc010yeh.1_Silent_p.H533H NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 682 AGC-kinase C-terminal. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) ACTTCGTGCACCCGGATGCCC 0.697 OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 83 --- --- --- --- PASS CACNG8 59283 broad.mit.edu 37 19 54466449 54466449 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:54466449G>A uc002qcs.1 + 1 156 c.50G>A c.(49-51)GGG>GAG p.G17E NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 18 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) TGCGAGAAGGGGGTGCAGGTG 0.672 3 10 --- --- --- --- PASS LILRA6 79168 broad.mit.edu 37 19 54745734 54745734 + Missense_Mutation SNP G A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:54745734G>A uc002qeu.1 - 4 500 c.376C>T c.(376-378)CTC>TTC p.L126F LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Missense_Mutation_p.L126F|LILRA6_uc002qek.1_Missense_Mutation_p.L126F|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.L126F|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.L126F|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.L126F|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.L126F|LILRA6_uc010yep.1_Missense_Mutation_p.L126F|LILRA6_uc010yeq.1_Missense_Mutation_p.L126F|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_5'UTR NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 126 Extracellular (Potential). integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGGGCTGAGAGGGTGGGTTTG 0.567 17 82 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57286498 57286498 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:57286498C>A uc002qnr.2 - 11 1524 c.1142G>T c.(1141-1143)AGG>ATG p.R381M uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.R177M|ZIM2_uc010ygr.1_Missense_Mutation_p.R177M|ZIM2_uc002qnq.2_Missense_Mutation_p.R381M|ZIM2_uc010etp.2_Missense_Mutation_p.R381M|ZIM2_uc010ygs.1_Missense_Mutation_p.R381M NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGAAGTCTTCCTACCAGAATG 0.463 41 113 --- --- --- --- PASS ZNF417 147687 broad.mit.edu 37 19 58420710 58420710 + Missense_Mutation SNP A C C TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr19:58420710A>C uc002qqq.2 - 3 1135 c.936T>G c.(934-936)ATT>ATG p.I312M ZNF417_uc010yhm.1_Missense_Mutation_p.I269M|ZNF417_uc002qqr.2_Missense_Mutation_p.I311M NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 312 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) GCTGATGGCTAATAAGGCTGC 0.458 71 297 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961207 1961207 + Missense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr20:1961207C>T uc010gaj.2 - 3 769 c.527G>A c.(526-528)GGG>GAG p.G176E uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G176E|PDYN_uc010zpt.1_Missense_Mutation_p.G21E NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 176 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 CAAAAAGCCCCCATAGCGTTT 0.592 56 160 --- --- --- --- PASS SMOX 54498 broad.mit.edu 37 20 4162950 4162950 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr20:4162950G>T uc002wkm.1 + 5 1025 c.824G>T c.(823-825)GGC>GTC p.G275V SMOX_uc002wkk.1_Missense_Mutation_p.G275V|SMOX_uc002wkl.1_Missense_Mutation_p.G275V|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.G275V|SMOX_uc010zqo.1_Missense_Mutation_p.G252V|SMOX_uc002wko.1_Missense_Mutation_p.G275V NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN spermine oxidase isoform 1 275 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1) 1 Spermine(DB00127) CGCCCCAGAGGCCCTGAGATT 0.677 12 36 --- --- --- --- PASS TTLL9 164395 broad.mit.edu 37 20 30527060 30527060 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr20:30527060A>G uc010gdx.1 + 14 1487 c.1234A>G c.(1234-1236)ACA>GCA p.T412A TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.T314A|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 412 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGTGACCAACACACATCTCGG 0.557 21 61 --- --- --- --- PASS BPIL1 80341 broad.mit.edu 37 20 31600616 31600616 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr20:31600616A>T uc002wyj.2 + 4 405 c.211A>T c.(211-213)ATT>TTT p.I71F NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 71 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 CAGGATCCGGATTCTGAATGT 0.527 102 318 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60926760 60926760 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr20:60926760C>A uc002ycq.2 - 6 1023 c.956G>T c.(955-957)AGG>ATG p.R319M NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 319 Laminin EGF-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGCCTCACCTGAACGGGTC 0.562 7 15 --- --- --- --- PASS USP16 10600 broad.mit.edu 37 21 30419000 30419000 + Nonsense_Mutation SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr21:30419000C>T uc002ymy.2 + 14 1571 c.1369C>T c.(1369-1371)CAA>TAA p.Q457* USP16_uc002ymx.2_Nonsense_Mutation_p.Q456*|USP16_uc002ymw.2_Nonsense_Mutation_p.Q457*|USP16_uc011acm.1_Nonsense_Mutation_p.Q442*|USP16_uc011acn.1_Nonsense_Mutation_p.Q123*|USP16_uc011aco.1_Nonsense_Mutation_p.Q147* NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 457 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 CCAACGAAGACAACAAAAAAT 0.239 15 58 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41447126 41447126 + Missense_Mutation SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr21:41447126G>T uc002yyq.1 - 27 5178 c.4726C>A c.(4726-4728)CTC>ATC p.L1576I DSCAM_uc002yyr.1_Intron NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1576 Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GACTTAATGAGTGGAGGAATT 0.507 28 84 --- --- --- --- PASS MX2 4600 broad.mit.edu 37 21 42749718 42749718 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr21:42749718G>T uc002yzf.1 + 3 356 c.252G>T c.(250-252)GGG>GGT p.G84G MX2_uc011aer.1_RNA NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 84 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TTCTCCAGGGGCCCGAGAACA 0.597 15 71 --- --- --- --- PASS C21orf29 54084 broad.mit.edu 37 21 45945684 45945684 + Missense_Mutation SNP C A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr21:45945684C>A uc002zfe.1 - 8 1254 c.1188G>T c.(1186-1188)AAG>AAT p.K396N C21orf29_uc010gpv.1_Missense_Mutation_p.K328N NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 396 EAR 2. cell adhesion extracellular region structural molecule activity 0 ACTCCTGACCCTTCTCATCTG 0.527 68 218 --- --- --- --- PASS ARVCF 421 broad.mit.edu 37 22 19968948 19968948 + Missense_Mutation SNP T G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr22:19968948T>G uc002zqz.2 - 5 953 c.682A>C c.(682-684)ACA>CCA p.T228P ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.T228P NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 228 cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CCAGGCAGTGTGAAGCAGCCA 0.721 5 6 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37333595 37333595 + Missense_Mutation SNP A T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr22:37333595A>T uc003aqa.3 + 14 1962 c.1745A>T c.(1744-1746)AAA>ATA p.K582I CSF2RB_uc003aqc.3_Missense_Mutation_p.K588I NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 582 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) ACACCTGAGAAACAGGCTTCC 0.677 6 18 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26212770 26212770 + Silent SNP C T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:26212770C>T uc004dbr.2 + 2 956 c.807C>T c.(805-807)GGC>GGT p.G269G MAGEB6_uc010ngc.1_Silent_p.G49G NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 269 MAGE. ovary(3) 3 GCAAGCTAGGCCTCCCCAGTG 0.527 52 61 --- --- --- --- PASS KDM6A 7403 broad.mit.edu 37 X 44937643 44937643 + Splice_Site SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:44937643A>G uc004dge.3 + 19 3208 c.2833_splice c.e19-2 p.L945_splice KDM6A_uc010nhk.2_Splice_Site_p.L911_splice|KDM6A_uc011mkz.1_Splice_Site_p.L997_splice|KDM6A_uc011mla.1_Splice_Site_p.L900_splice|KDM6A_uc011mlb.1_Splice_Site_p.L952_splice|KDM6A_uc011mlc.1_Splice_Site_p.L649_splice|KDM6A_uc011mld.1_Splice_Site_p.L584_splice NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TTAATTTTACAGTTGGAAAAT 0.308 D|N|F|S renal|oesophageal SCC|MM 33 29 --- --- --- --- PASS KDM5C 8242 broad.mit.edu 37 X 53230856 53230856 + Missense_Mutation SNP T A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:53230856T>A uc004drz.2 - 14 2470 c.1937A>T c.(1936-1938)GAG>GTG p.E646V KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.E579V|KDM5C_uc004dsa.2_Missense_Mutation_p.E645V NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 646 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 p.E645_E646>D*(1) kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 GCAGATAAGCTCCTCATGGGA 0.582 N|F|S clear cell renal carcinoma 16 20 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73063516 73063516 + RNA SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:73063516G>T uc004ebm.1 - 1 c.9073C>A NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 ACAGGAACATGCTTAGAGAAT 0.413 23 28 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79286183 79286183 + Missense_Mutation SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:79286183A>G uc010nmg.1 + 9 1270 c.1136A>G c.(1135-1137)AAT>AGT p.N379S TBX22_uc004edi.1_Missense_Mutation_p.N259S|TBX22_uc004edj.1_Missense_Mutation_p.N379S NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 379 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TGTCCAACTAATTTTTGGCAA 0.468 57 90 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151869721 151869721 + Silent SNP G T T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:151869721G>T uc004ffq.1 + 3 605 c.411G>T c.(409-411)GGG>GGT p.G137G MAGEA6_uc004ffr.1_Silent_p.G137G|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 137 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) AAATGCTGGGGAGTGTCGTCG 0.517 22 116 --- --- --- --- PASS TSPY1 7258 broad.mit.edu 37 Y 9305917 9305917 + Silent SNP A G G TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrY:9305917A>G uc004frw.3 + 3 619 c.573A>G c.(571-573)GAA>GAG p.E191E TSPY1_uc004frx.3_Silent_p.E191E|TSPY1_uc010nwp.1_Intron NM_003308 NP_003299 Q01534 TSPY1_HUMAN testis specific protein, Y-linked 1 191 cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus identical protein binding 0 AGGTGGGAGAAGAGAAGCATC 0.448 62 531 --- --- --- --- PASS VENTXP7 391518 broad.mit.edu 37 3 21447901 21447902 + RNA INS - CC CC rs143568999 by1000genomes TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chr3:21447901_21447902insCC uc003ccd.2 + 1 c.684_685insCC NR_002311 Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA. 0 CTGGCATACCACCCCCCACGCC 0.663 5 5 --- --- --- --- ALG13 79868 broad.mit.edu 37 X 110967050 110967052 + In_Frame_Del DEL TAT - - TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:110967050_110967052delTAT uc011msy.1 + 14 1559_1561 c.1525_1527delTAT c.(1525-1527)TATdel p.Y510del ALG13_uc011msx.1_In_Frame_Del_p.Y406del|ALG13_uc011msz.1_In_Frame_Del_p.Y432del|ALG13_uc011mta.1_In_Frame_Del_p.Y406del|ALG13_uc011mtb.1_In_Frame_Del_p.Y406del Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 510 Tudor. 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 AGAAGGAAGATATTATAATGCTC 0.350 6 4 --- --- --- --- FLNA 2316 broad.mit.edu 37 X 153592424 153592425 + Frame_Shift_Ins INS - A A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 387c6519-6529-4074-a5ab-00f8052a5732 e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c g.chrX:153592424_153592425insA uc004fkk.2 - 15 2494_2495 c.2245_2246insT c.(2245-2247)TGGfs p.W749fs FLNA_uc010nuu.1_Frame_Shift_Ins_p.W749fs NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 749 Filamin 5. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GACGCCTCCCCAGGACACCATG 0.594 88 60 --- --- --- ---