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 KIAA1751 85452 broad.mit.edu 37 1 1888126 1888126 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:1888126G>A uc001aim.1 - 17 2105 c.1949C>T c.(1948-1950)ACG>ATG p.T650M KIAA1751_uc009vkz.1_Missense_Mutation_p.T650M NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 650 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CTTGAAAGTCGTGCCCAAGCC 0.582 TAS1R2 80834 broad.mit.edu 37 1 19166593 19166593 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:19166593G>A uc001bba.1 - 6 2021 c.2020C>T c.(2020-2022)CGC>TGC p.R674C NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 674 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCCTGGTAGCGGACCCAGTAG 0.572 GRHL3 57822 broad.mit.edu 37 1 24657929 24657929 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:24657929C>T uc001biy.2 + 2 92 c.46C>T c.(46-48)CGG>TGG p.R16W GRHL3_uc001bix.2_Missense_Mutation_p.R11W|GRHL3_uc001biz.2_Intron NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 11 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CAGGTCTGTGCGGCTGCTAAA 0.512 KPRP 448834 broad.mit.edu 37 1 152732729 152732729 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:152732729G>A uc001fal.1 + 2 723 c.665G>A c.(664-666)CGG>CAG p.R222Q NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 222 cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCAGTATCGGTCCCGGACT 0.582 OR2L8 391190 broad.mit.edu 37 1 248112496 248112496 + Missense_Mutation SNP C A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr1:248112496C>A uc001idt.1 + 1 337 c.337C>A c.(337-339)CTT>ATT p.L113I OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0152) AGAAGCACTACTTTTGGCATC 0.443 SMC3 9126 broad.mit.edu 37 10 112328741 112328741 + Missense_Mutation SNP G C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr10:112328741G>C uc001kze.2 + 2 187 c.61G>C c.(61-63)GAT>CAT p.D21H NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 21 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AACAATTGTAGATCCCTTCAG 0.308 SMC3 9126 broad.mit.edu 37 10 112341821 112341821 + Missense_Mutation SNP C G G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr10:112341821C>G uc001kze.2 + 9 814 c.688C>G c.(688-690)CAG>GAG p.Q230E NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 230 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) CATTTACAATCAGGAACTTAA 0.343 NHLRC2 374354 broad.mit.edu 37 10 115668096 115668096 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr10:115668096G>A uc001lax.1 + 11 2194 c.1982G>A c.(1981-1983)AGT>AAT p.S661N NHLRC2_uc001lay.1_RNA NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 661 cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) AACATTTCCAGTCAACCAACA 0.348 DAGLA 747 broad.mit.edu 37 11 61490356 61490356 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:61490356C>T uc001nsa.2 + 4 444 c.333C>T c.(331-333)TAC>TAT p.Y111Y NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 111 Helical; (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) AGTTCATCTACGCCATCGTGG 0.607 CPT1A 1374 broad.mit.edu 37 11 68579934 68579934 + Silent SNP A G G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:68579934A>G uc001oog.3 - 3 422 c.252T>C c.(250-252)ATT>ATC p.I84I CPT1A_uc001oof.3_Silent_p.I84I|CPT1A_uc009ysj.2_Silent_p.I84I NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 84 Mitochondrial intermembrane (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TGATTTTTGCAATTATTCCTA 0.473 P2RY2 5029 broad.mit.edu 37 11 72945705 72945705 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:72945705C>T uc001otj.2 + 3 834 c.501C>T c.(499-501)CCC>CCT p.P167P P2RY2_uc001otk.2_Silent_p.P167P|P2RY2_uc001otl.2_Silent_p.P167P NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 167 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) GCCAGGCCCCCGTGCTCTACT 0.721 ST14 6768 broad.mit.edu 37 11 130069961 130069961 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr11:130069961C>T uc001qfw.2 + 16 2116 c.1923C>T c.(1921-1923)TGC>TGT p.C641C NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 641 Extracellular (Potential).|Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GCCACATCTGCGGTGCTTCCC 0.627 SLC38A2 54407 broad.mit.edu 37 12 46757576 46757576 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:46757576C>T uc001rpg.2 - 12 1427 c.987G>A c.(985-987)AAG>AAA p.K329K SLC38A2_uc010sli.1_Silent_p.K167K|SLC38A2_uc001rph.2_Silent_p.K229K NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 329 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) AAAATGAAATCTTGGACACAT 0.343 BAZ2A 11176 broad.mit.edu 37 12 57005685 57005685 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:57005685G>A uc001slq.1 - 6 1681 c.1487C>T c.(1486-1488)TCT>TTT p.S496F BAZ2A_uc001slp.1_Missense_Mutation_p.S494F|BAZ2A_uc009zow.1_Missense_Mutation_p.S464F NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 496 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 AGTTACGGGAGAGGCTTTTGG 0.542 ALDH1L2 160428 broad.mit.edu 37 12 105455479 105455479 + Missense_Mutation SNP G T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:105455479G>T uc001tlc.2 - 8 1100 c.973C>A c.(973-975)CAG>AAG p.Q325K ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 325 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 GAAAAGTACTGAGAGGCAGGG 0.408 TRPV4 59341 broad.mit.edu 37 12 110230485 110230485 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:110230485G>A uc001tpj.1 - 10 1891 c.1796C>T c.(1795-1797)ACG>ATG p.T599M TRPV4_uc001tpg.1_Missense_Mutation_p.T565M|TRPV4_uc001tph.1_Missense_Mutation_p.T552M|TRPV4_uc001tpi.1_Missense_Mutation_p.T492M|TRPV4_uc001tpk.1_Missense_Mutation_p.T599M|TRPV4_uc001tpl.1_Missense_Mutation_p.T539M NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 599 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 ATAGGTCCCCGTCAGCTTCAG 0.582 DNAH10 196385 broad.mit.edu 37 12 124330629 124330629 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr12:124330629C>T uc001uft.3 + 31 5413 c.5388C>T c.(5386-5388)TAC>TAT p.Y1796Y NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1796 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCTACGGCTACGAGTACATGG 0.587 NYNRIN 57523 broad.mit.edu 37 14 24878300 24878300 + Missense_Mutation SNP C A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr14:24878300C>A uc001wpf.3 + 4 1618 c.1300C>A c.(1300-1302)CCA>ACA p.P434T NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 434 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 AGCTGGTAGACCAGATGGGGG 0.552 PLEK2 26499 broad.mit.edu 37 14 67864439 67864439 + Silent SNP G T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr14:67864439G>T uc001xjh.1 - 2 199 c.147C>A c.(145-147)GGC>GGA p.G49G NM_016445 NP_057529 Q9NYT0 PLEK2_HUMAN pleckstrin 2 49 PH 1. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane ovary(1)|pancreas(1) 2 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) GGAGGATCCGGCCCTTGGGAG 0.592 SGK269 79834 broad.mit.edu 37 15 77473255 77473255 + Silent SNP T C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:77473255T>C uc002bcm.2 - 3 1322 c.1014A>G c.(1012-1014)TCA>TCG p.S338S SGK269_uc002bcn.2_Silent_p.S338S NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 338 Ser-rich. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TGGAGTCAGATGACACCATGC 0.423 CHRNB4 1143 broad.mit.edu 37 15 78921872 78921872 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:78921872C>T uc002bed.1 - 5 887 c.775G>A c.(775-777)GAC>AAC p.D259N CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 259 Cytoplasmic (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 TCGCCGCAGTCGGATGGCAGG 0.557 RASGRF1 5923 broad.mit.edu 37 15 79292172 79292172 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:79292172C>T uc002beq.2 - 18 3082 c.2707G>A c.(2707-2709)GCC>ACC p.A903T RASGRF1_uc002bep.2_Missense_Mutation_p.A887T|RASGRF1_uc010blm.1_Missense_Mutation_p.A812T|RASGRF1_uc002ber.3_Missense_Mutation_p.A887T|RASGRF1_uc010unh.1_Missense_Mutation_p.A298T|RASGRF1_uc002beo.2_Missense_Mutation_p.A119T NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 905 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 AAGGCAGAGGCGGCCGACAAG 0.562 NTRK3 4916 broad.mit.edu 37 15 88576210 88576210 + Missense_Mutation SNP A G G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr15:88576210A>G uc002bme.1 - 13 1625 c.1463T>C c.(1462-1464)ATC>ACC p.I488T NTRK3_uc002bmh.2_Missense_Mutation_p.I480T|NTRK3_uc002bmf.1_Missense_Mutation_p.I488T|NTRK3_uc010upl.1_Missense_Mutation_p.I390T|NTRK3_uc010bnh.1_Missense_Mutation_p.I480T|NTRK3_uc002bmg.2_Missense_Mutation_p.I488T|NTRK3_uc010bni.2_RNA NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 488 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.I488I(1)|p.I488T(1) ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGCGTGGTGATGCCGTGGTT 0.607 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) SEPT12 124404 broad.mit.edu 37 16 4834042 4834042 + Silent SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr16:4834042G>A uc002cxq.2 - 5 543 c.402C>T c.(400-402)AAC>AAT p.N134N SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_RNA NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 134 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CGTATTGCTCGTTGATGTAGC 0.627 IQCK 124152 broad.mit.edu 37 16 19729642 19729642 + Missense_Mutation SNP G C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr16:19729642G>C uc002dgr.2 + 2 713 c.14G>C c.(13-15)CGG>CCG p.R5P IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.R5P|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_5'UTR|C16orf88_uc002dgq.2_5'Flank NM_153208 NP_694940 Q8N0W5 IQCK_HUMAN IQ motif containing K 5 skin(1) 1 GCGGCACCGCGGCAAATCCCC 0.692 ODF4 146852 broad.mit.edu 37 17 8243550 8243550 + Missense_Mutation SNP C T T rs147153349 TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr17:8243550C>T uc002gle.1 + 1 363 c.181C>T c.(181-183)CGC>TGC p.R61C NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1) 1 CTTGGGCCAGCGCCAGAACTC 0.592 RHBDL3 162494 broad.mit.edu 37 17 30632431 30632431 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr17:30632431G>A uc002hhe.1 + 7 867 c.853G>A c.(853-855)GTC>ATC p.V285I RHBDL3_uc010csw.1_Missense_Mutation_p.V277I|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.V187I|RHBDL3_uc002hhf.1_Missense_Mutation_p.V187I NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 285 Helical; (Potential). proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) GTATGCTCTCGTCTCTGCCCA 0.542 POLRMT 5442 broad.mit.edu 37 19 622950 622950 + Missense_Mutation SNP C A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:622950C>A uc002lpf.1 - 7 1382 c.1326G>T c.(1324-1326)GAG>GAT p.E442D NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 442 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) ACAGTGCTTTCTCCCATTGGT 0.672 PODNL1 79883 broad.mit.edu 37 19 14046600 14046600 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:14046600G>A uc002mxr.2 - 5 723 c.449C>T c.(448-450)GCG>GTG p.A150V PODNL1_uc010xni.1_Missense_Mutation_p.A68V|PODNL1_uc010xnj.1_Missense_Mutation_p.A148V|PODNL1_uc002mxs.2_Intron NM_024825 NP_079101 Q6PEZ8 PONL1_HUMAN podocan-like 1 isoform 1 150 Leu-rich.|LRR 4. proteinaceous extracellular matrix central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) AGCCAGATCCGCGACACGGAG 0.667 EMR2 30817 broad.mit.edu 37 19 14857101 14857101 + Missense_Mutation SNP A C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:14857101A>C uc002mzp.1 - 18 2582 c.2126T>G c.(2125-2127)ATT>AGT p.I709S EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_RNA NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 709 Cytoplasmic (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 GTTTTTCAAAATCCAGAGAGT 0.388 CPAMD8 27151 broad.mit.edu 37 19 17086872 17086872 + Silent SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:17086872G>A uc002nfb.2 - 16 2021 c.1989C>T c.(1987-1989)GTC>GTT p.V663V NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 616 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CAACTGCGGCGACGCACACAC 0.597 FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG - - TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:35940788_35940790delCTG uc002nzg.2 + 2 252_254 c.172_174delCTG c.(172-174)CTGdel p.L62del FFAR2_uc010eea.2_In_Frame_Del_p.L62del NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 62 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 ZFP30 22835 broad.mit.edu 37 19 38126468 38126468 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:38126468G>A uc002ogv.1 - 6 1490 c.974C>T c.(973-975)CCC>CTC p.P325L ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACATTCATAGGGTTTTTCTCC 0.438 MAP4K1 11184 broad.mit.edu 37 19 39086283 39086283 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:39086283C>T uc002oix.1 - 28 2374 c.2266G>A c.(2266-2268)GTG>ATG p.V756M MAP4K1_uc002oiw.1_Missense_Mutation_p.V343M|MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 756 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CACAGACCCACGGCCTCCACC 0.622 LILRA1 11024 broad.mit.edu 37 19 55107682 55107682 + Silent SNP G A A rs138767008 TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:55107682G>A uc002qgh.1 + 7 1169 c.987G>A c.(985-987)TCG>TCA p.S329S LILRA2_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.1_Silent_p.S329S NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 329 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CCTTCATCTCGGTGCATCCGG 0.612 NLRP8 126205 broad.mit.edu 37 19 56466478 56466478 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr19:56466478G>A uc002qmh.2 + 3 1125 c.1054G>A c.(1054-1056)GTA>ATA p.V352I NLRP8_uc010etg.2_Missense_Mutation_p.V352I NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 352 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCCCTCTCTCGTAACCCTTCC 0.458 EHD3 30845 broad.mit.edu 37 2 31483602 31483602 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:31483602C>T uc002rnu.2 + 4 1337 c.729C>T c.(727-729)ATC>ATT p.I243I EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 243 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) TGGGGAAGATCGTGAACACCC 0.592 SLC35F5 80255 broad.mit.edu 37 2 114489225 114489225 + Missense_Mutation SNP G T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:114489225G>T uc002tku.1 - 10 1345 c.921C>A c.(919-921)AGC>AGA p.S307R SLC35F5_uc002tkt.2_RNA NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 307 DUF6.|Helical; (Potential). transport integral to membrane 0 CGCCTCCAATGCTATGAGAAT 0.373 GCA 25801 broad.mit.edu 37 2 163204201 163204201 + Silent SNP T C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:163204201T>C uc002ucg.2 + 2 317 c.141T>C c.(139-141)TAT>TAC p.Y47Y GCA_uc010zcu.1_Silent_p.Y28Y NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 47 cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 CAGACACTTATTCCTCAGCTG 0.443 ITGA4 3676 broad.mit.edu 37 2 182374515 182374515 + Missense_Mutation SNP A C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:182374515A>C uc002unu.2 + 16 2589 c.1826A>C c.(1825-1827)AAA>ACA p.K609T ITGA4_uc010frj.1_Missense_Mutation_p.K91T NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 609 SG1.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AAGAAAGAAAAAGACATAATG 0.333 COL4A4 1286 broad.mit.edu 37 2 227924195 227924195 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr2:227924195G>A uc010zlt.1 - 28 2963 c.2309C>T c.(2308-2310)CCG>CTG p.P770L NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 770 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTCTTTCCCGGGGGTCCCAG 0.612 CASS4 57091 broad.mit.edu 37 20 55027872 55027872 + Missense_Mutation SNP T C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr20:55027872T>C uc002xxp.2 + 6 1865 c.1640T>C c.(1639-1641)CTT>CCT p.L547P CASS4_uc002xxq.3_Missense_Mutation_p.L547P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 547 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CTGGAAGTTCTTGTGACTGAC 0.493 TMPRSS15 5651 broad.mit.edu 37 21 19744570 19744570 + Missense_Mutation SNP A T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr21:19744570A>T uc002ykw.2 - 6 635 c.604T>A c.(604-606)TTA>ATA p.L202I NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 202 Extracellular (Potential).|LDL-receptor class A 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TCACAAAATAAATCAGCTTTT 0.383 ICOSLG 23308 broad.mit.edu 37 21 45655287 45655287 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr21:45655287C>T uc002zee.2 - 4 699 c.565G>A c.(565-567)GTC>ATC p.V189I ICOSLG_uc011afc.1_Missense_Mutation_p.V99I|ICOSLG_uc002zef.2_Missense_Mutation_p.V72I|ICOSLG_uc010gpp.1_Missense_Mutation_p.V189I NM_015259 NP_056074 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand precursor 189 Extracellular (Potential).|Ig-like C2-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding 0 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TTCAAGAAGACGGTGTCATTC 0.552 LTF 4057 broad.mit.edu 37 3 46490484 46490484 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:46490484C>T uc003cpq.2 - 9 1120 c.1082G>A c.(1081-1083)CGT>CAT p.R361H LTF_uc003fzr.2_Missense_Mutation_p.R317H|LTF_uc010hjh.2_Missense_Mutation_p.R361H|LTF_uc003cpr.2_Missense_Mutation_p.R348H NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 361 cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GACCCGCGCACGCCGGGCAGC 0.667 DHX30 22907 broad.mit.edu 37 3 47890010 47890010 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:47890010G>A uc003cru.2 + 16 2971 c.2545G>A c.(2545-2547)GAC>AAC p.D849N DHX30_uc003crt.2_Missense_Mutation_p.D810N|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 849 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CAAGGCAGTGGACGAGGCTGT 0.527 IFRD2 7866 broad.mit.edu 37 3 50327467 50327467 + Missense_Mutation SNP C G G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:50327467C>G uc011bdp.1 - 5 760 c.631G>C c.(631-633)GTG>CTG p.V211L IFRD2_uc003czb.2_Missense_Mutation_p.V313L NM_006764 NP_006755 Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 211 binding lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCCAGCTGCACGCAGAGCAGG 0.637 GPR15 2838 broad.mit.edu 37 3 98251667 98251667 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:98251667G>A uc011bgy.1 + 1 790 c.790G>A c.(790-792)GCC>ACC p.A264T NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 264 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CAAGTTCCTGGCCATTGTCTC 0.453 TRPC1 7220 broad.mit.edu 37 3 142524983 142524983 + Missense_Mutation SNP A G G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr3:142524983A>G uc003evc.2 + 13 2424 c.2288A>G c.(2287-2289)GAA>GGA p.E763G TRPC1_uc003evb.2_Missense_Mutation_p.E729G NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 763 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AATCTAAACGAACTGCGCCAA 0.373 CPZ 8532 broad.mit.edu 37 4 8605806 8605806 + Silent SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:8605806G>A uc003glm.2 + 4 726 c.600G>A c.(598-600)ACG>ACA p.T200T CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.T63T|CPZ_uc003glo.2_Silent_p.T189T|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 200 T -> M (in Ref. 4; BC006393). proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 TGAGGCGGACGGCCTCCCGCT 0.701 FRAS1 80144 broad.mit.edu 37 4 79366682 79366682 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:79366682G>A uc003hlb.2 + 42 6112 c.5672G>A c.(5671-5673)CGT>CAT p.R1891H FRAS1_uc003hkw.2_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.1_Missense_Mutation_p.R311H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1890 CSPG 7.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GCAGGTGATCGTTTTGGCCCT 0.393 ALPK1 80216 broad.mit.edu 37 4 113351620 113351620 + Missense_Mutation SNP G T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:113351620G>T uc003iap.3 + 11 1196 c.917G>T c.(916-918)TGT>TTT p.C306F ALPK1_uc003ian.3_Missense_Mutation_p.C306F|ALPK1_uc011cfx.1_Missense_Mutation_p.C228F|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.C134F NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 306 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CGTGGCACGTGTTTATTGTCC 0.398 PRSS48 345062 broad.mit.edu 37 4 152203364 152203364 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr4:152203364C>T uc011cif.1 + 3 280 c.280C>T c.(280-282)CGT>TGT p.R94C PRSS48_uc011cig.1_Intron NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN epidermis-specific serine protease-like protein 94 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1) 1 CTCAAGGAAACGTGTGAAGTA 0.473 CDH18 1016 broad.mit.edu 37 5 19520782 19520782 + Missense_Mutation SNP T A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr5:19520782T>A uc003jgc.2 - 9 1873 c.1496A>T c.(1495-1497)AAT>ATT p.N499I CDH18_uc003jgd.2_Missense_Mutation_p.N499I|CDH18_uc011cnm.1_Missense_Mutation_p.N499I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 499 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGGCTTAGAATTTTCACATAC 0.393 PLCXD3 345557 broad.mit.edu 37 5 41382221 41382221 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr5:41382221C>T uc003jmm.1 - 2 621 c.519G>A c.(517-519)GCG>GCA p.A173A NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 173 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 GGGCAAAAATCGCTGGGCACA 0.428 FGF18 8817 broad.mit.edu 37 5 170883763 170883763 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr5:170883763C>T uc003mbk.2 + 5 1115 c.578C>T c.(577-579)ACG>ATG p.T193M NM_003862 NP_003853 O76093 FGF18_HUMAN fibroblast growth factor 18 precursor 193 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAGTACACGACGGTGACCAAG 0.657 BCLAF1 9774 broad.mit.edu 37 6 136600997 136600997 + Missense_Mutation SNP C T T rs148729378 byFrequency TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr6:136600997C>T uc003qgx.1 - 3 261 c.8G>A c.(7-9)CGC>CAC p.R3H BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 3 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGAATTGGAGCGACCCATTTC 0.308 ESR1 2099 broad.mit.edu 37 6 152265483 152265483 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr6:152265483C>T uc003qom.3 + 6 1306 c.936C>T c.(934-936)GCC>GCT p.A312A ESR1_uc010kin.2_Silent_p.A312A|ESR1_uc010kio.2_Silent_p.A314A|ESR1_uc010kip.2_Silent_p.A311A|ESR1_uc003qon.3_Silent_p.A312A|ESR1_uc003qoo.3_Silent_p.A312A|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.1_Silent_p.A49A NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 312 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding p.A312A(1) central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CCCTGACGGCCGACCAGATGG 0.547 SYNE1 23345 broad.mit.edu 37 6 152461284 152461284 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr6:152461284C>T uc010kiw.2 - 140 25861 c.25259G>A c.(25258-25260)CGA>CAA p.R8420Q SYNE1_uc010kiv.2_Missense_Mutation_p.R2944Q|SYNE1_uc003qos.3_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.3_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.3_Missense_Mutation_p.R8420Q|SYNE1_uc003qop.3_Missense_Mutation_p.R605Q|SYNE1_uc011eez.1_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.3_Missense_Mutation_p.R622Q|SYNE1_uc003qor.3_Missense_Mutation_p.R1343Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8420 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) AAGCTCCCATCGGTCAATCAC 0.458 HNSCC(10;0.0054) ADAM22 53616 broad.mit.edu 37 7 87795154 87795154 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:87795154G>A uc003ujn.2 + 24 2163 c.2084G>A c.(2083-2085)AGT>AAT p.S695N ADAM22_uc003ujk.1_Missense_Mutation_p.S695N|ADAM22_uc003ujl.1_Missense_Mutation_p.S695N|ADAM22_uc003ujm.2_Missense_Mutation_p.S695N|ADAM22_uc003ujo.2_Missense_Mutation_p.S695N|ADAM22_uc003ujp.1_Missense_Mutation_p.S747N NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 695 EGF-like.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CAGGTTTGCAGTAATGAGCTG 0.368 ZNF3 7551 broad.mit.edu 37 7 99672770 99672770 + Missense_Mutation SNP C G G TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:99672770C>G uc003usq.2 - 5 566 c.259G>C c.(259-261)GTG>CTG p.V87L ZNF3_uc003usp.2_Missense_Mutation_p.V87L|ZNF3_uc003usr.2_Missense_Mutation_p.V87L|ZNF3_uc010lgj.2_Missense_Mutation_p.V51L|ZNF3_uc003uss.2_Missense_Mutation_p.V94L|ZNF3_uc003ust.3_Missense_Mutation_p.V87L NM_032924 NP_116313 P17036 ZNF3_HUMAN zinc finger protein 3 isoform 2 87 KRAB. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) AGTGAGAACACATTCCCGTAA 0.458 MUC17 140453 broad.mit.edu 37 7 100674888 100674888 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:100674888C>T uc003uxp.1 + 3 244 c.191C>T c.(190-192)GCG>GTG p.A64V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 64 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACAGGTTCTGCGGCAAACACC 0.418 CCDC136 64753 broad.mit.edu 37 7 128434467 128434469 + In_Frame_Del DEL GAA - - TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:128434467_128434469delGAA uc003vnv.1 + 2 449_451 c.82_84delGAA c.(82-84)GAAdel p.E32del CCDC136_uc003vnu.1_In_Frame_Del_p.E82del|CCDC136_uc003vnw.1_In_Frame_Del_p.E32del NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 32 Glu-rich. integral to membrane protein binding ovary(2) 2 agaagaggtggaagaagaagaag 0.414 TAS2R41 259287 broad.mit.edu 37 7 143174982 143174982 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:143174982C>T uc003wdc.1 + 1 17 c.17C>T c.(16-18)ACG>ATG p.T6M uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 6 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) GCAGCACTGACGGCCTTCTTC 0.572 TAS2R41 259287 broad.mit.edu 37 7 143175836 143175836 + Nonsense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr7:143175836C>T uc003wdc.1 + 1 871 c.871C>T c.(871-873)CGA>TGA p.R291* uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 291 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) CCTCAAGCTTCGAAGCGTGTT 0.502 KCNB2 9312 broad.mit.edu 37 8 73849053 73849053 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:73849053C>T uc003xzb.2 + 3 2051 c.1463C>T c.(1462-1464)TCG>TTG p.S488L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 488 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) AATCACCTGTCGCCAAGCCGG 0.527 KIAA1429 25962 broad.mit.edu 37 8 95547143 95547143 + Silent SNP T C C TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:95547143T>C uc003ygo.1 - 5 421 c.408A>G c.(406-408)AGA>AGG p.R136R KIAA1429_uc003ygp.2_Silent_p.R136R NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 136 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) gtggAGAGTCTCTGTCATGAC 0.343 PKHD1L1 93035 broad.mit.edu 37 8 110476724 110476724 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:110476724G>A uc003yne.2 + 49 7767 c.7663G>A c.(7663-7665)GAT>AAT p.D2555N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2555 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCTTCTGAATGATGATGTGAC 0.443 HNSCC(38;0.096) SLC45A4 57210 broad.mit.edu 37 8 142229845 142229845 + Missense_Mutation SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr8:142229845C>T uc003ywd.1 - 3 669 c.361G>A c.(361-363)GCC>ACC p.A121T SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 172 Helical; (Potential). transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GTGGCATCGGCGCTGAAGTCC 0.657 CYLC2 1539 broad.mit.edu 37 9 105767804 105767804 + Silent SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chr9:105767804G>A uc004bbs.2 + 5 961 c.891G>A c.(889-891)ACG>ACA p.T297T NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 297 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) aggacgccacgaaagatgcca 0.164 MAGEB6 158809 broad.mit.edu 37 X 26212572 26212572 + Silent SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:26212572G>A uc004dbr.2 + 2 758 c.609G>A c.(607-609)GCG>GCA p.A203A MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 203 MAGE. ovary(3) 3 GCACGTTGGCGCAATTCCTGC 0.478 FAM70A 55026 broad.mit.edu 37 X 119410833 119410833 + Silent SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:119410833G>A uc004eso.3 - 8 881 c.654C>T c.(652-654)CTC>CTT p.L218L FAM70A_uc004esp.3_Silent_p.L194L|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 218 integral to membrane lung(1)|breast(1) 2 GCAGGTGGTAGAGGTGGATGA 0.542 SAGE1 55511 broad.mit.edu 37 X 134986679 134986679 + Silent SNP C T T TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:134986679C>T uc004ezh.2 + 4 431 c.264C>T c.(262-264)AAC>AAT p.N88N SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.1_Silent_p.N88N NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 88 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GGATAAATAACGGCCAACCAG 0.443 GPR112 139378 broad.mit.edu 37 X 135430793 135430793 + Missense_Mutation SNP C T T rs146283448 TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:135430793C>T uc004ezu.1 + 6 5219 c.4928C>T c.(4927-4929)ACG>ATG p.T1643M GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1643 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ATCACACCTACGACCTTTCTC 0.468 DNASE1L1 1774 broad.mit.edu 37 X 153633852 153633852 + Missense_Mutation SNP G A A TCGA-06-0645-01A-01D-1492-08 TCGA-06-0645-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 3f458a3c-baac-427d-b3d6-6f15104a8886 c917b2bc-abdd-480f-b6fe-b442abfd1b43 g.chrX:153633852G>A uc004fks.1 - 2 249 c.58C>T c.(58-60)CGC>TGC p.R20C DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor 20 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 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) GCGCAGATGCGAAAGGCCTGG 0.607