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 LCK 3932 broad.mit.edu 37 1 32740011 32740011 + Silent SNP A T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:32740011A>T uc001bux.2 + 2 219 c.81A>T c.(79-81)ATA>ATT p.I27I LCK_uc001buy.2_Silent_p.I27I|LCK_uc001buz.2_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.2_Silent_p.I27I NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 27 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ATTATCCCATAGTCCCACTGG 0.547 T TRB@ T-ALL AKR1A1 10327 broad.mit.edu 37 1 46027470 46027470 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:46027470G>A uc001cod.2 + 3 468 c.4G>A c.(4-6)GCG>ACG p.A2T AKR1A1_uc009vxw.2_Missense_Mutation_p.A2T|AKR1A1_uc001coe.2_Missense_Mutation_p.A2T NM_006066 NP_006057 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 2 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) GGGGGCAATGGCGGCTTCCTG 0.507 CCDC17 149483 broad.mit.edu 37 1 46086575 46086575 + Silent SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:46086575C>T uc010olt.1 - 11 1747 c.1599G>A c.(1597-1599)CAG>CAA p.Q533Q CCDC17_uc009vxy.2_Silent_p.Q501Q|CCDC17_uc010ols.1_Silent_p.Q524Q|CCDC17_uc001com.3_Silent_p.Q354Q|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron NM_001114938 NP_001108410 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 533 ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CCACACTCACCTGAGGAATCC 0.592 CDKN2C 1031 broad.mit.edu 37 1 51436083 51436083 + Frame_Shift_Del DEL A - - TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:51436083delA uc001csf.2 + 2 1259 c.43delA c.(43-45)AGGfs p.R15fs CDKN2C_uc001csg.2_Frame_Shift_Del_p.R15fs NM_001262 NP_001253 P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C 15 ANK 1. cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(4)|p.R15fs*4(1) central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1) 17 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) CGCAGCTGCCAGGGGGGACCT 0.468 D glioma|MM Multiple_Endocrine_Neoplasia_type_1 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A G G rs146714035 by1000genomes TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 FCRL4 83417 broad.mit.edu 37 1 157556156 157556156 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:157556156C>T uc001fqw.2 - 6 1073 c.937G>A c.(937-939)GCT>ACT p.A313T FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 313 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GTGCCTTCAGCCACGGAGCAG 0.597 FCRL2 79368 broad.mit.edu 37 1 157718679 157718679 + Missense_Mutation SNP G T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:157718679G>T uc001fre.2 - 9 1438 c.1379C>A c.(1378-1380)CCA>CAA p.P460Q FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 460 Cytoplasmic (Potential).|ITIM motif 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GACATACACTGGCTGCAGCTC 0.502 CEP350 9857 broad.mit.edu 37 1 179965731 179965731 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:179965731G>A uc001gnt.2 + 6 822 c.439G>A c.(439-441)GAA>AAA p.E147K CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.2_5'UTR NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 147 centrosome|nucleus|spindle ovary(4) 4 CAGCCATCTGGAATCAAAGCA 0.343 RYR2 6262 broad.mit.edu 37 1 237802446 237802446 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr1:237802446G>A uc001hyl.1 + 46 7180 c.7060G>A c.(7060-7062)GCC>ACC p.A2354T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2354 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATCAAAATCGCCGAGGATCC 0.493 PAOX 196743 broad.mit.edu 37 10 135203245 135203245 + Silent SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr10:135203245C>T uc001lmv.2 + 6 1466 c.1386C>T c.(1384-1386)GGC>GGT p.G462G PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 600 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ACGGCGCCGGCGCCCAGGTAT 0.741 POU2AF1 5450 broad.mit.edu 37 11 111225126 111225126 + Missense_Mutation SNP A G G TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr11:111225126A>G uc001plg.3 - 5 886 c.631T>C c.(631-633)TCT>CCT p.S211P NM_006235 NP_006226 Q16633 OBF1_HUMAN POU class 2 associating factor 1 211 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity kidney(1) 1 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) TCTGGGATAGAGATGGGGAGC 0.622 T BCL6 NHL CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr11:115080343G>T uc001ppi.3 - 8 1158 c.1029C>A c.(1027-1029)ACC>ACA p.T343T CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Silent_p.T95T NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 343 Extracellular (Potential). PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.269 HYOU1 10525 broad.mit.edu 37 11 118919049 118919049 + Frame_Shift_Del DEL A - - TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr11:118919049delA uc001puu.2 - 20 2480 c.2287delT c.(2287-2289)TCCfs p.S763fs HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 763 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) TCCTCTGTGGACACTTCCTGG 0.617 CHEK1 1111 broad.mit.edu 37 11 125505406 125505406 + Missense_Mutation SNP A T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr11:125505406A>T uc009zbo.2 + 7 1588 c.696A>T c.(694-696)AAA>AAT p.K232N CHEK1_uc010sbh.1_Missense_Mutation_p.K248N|CHEK1_uc010sbi.1_Missense_Mutation_p.K232N|CHEK1_uc001qcf.3_Missense_Mutation_p.K232N|CHEK1_uc009zbp.2_Missense_Mutation_p.K232N|CHEK1_uc001qcg.3_Missense_Mutation_p.K232N|CHEK1_uc009zbq.2_Missense_Mutation_p.K232N|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 232 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) ACCCTTGGAAAAAAATCGATT 0.373 Other_conserved_DNA_damage_response_genes ETNK1 55500 broad.mit.edu 37 12 22778163 22778163 + Silent SNP C G G TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr12:22778163C>G uc001rft.2 + 1 88 c.66C>G c.(64-66)CTC>CTG p.L22L ETNK1_uc009ziz.2_Silent_p.L22L|ETNK1_uc001rfs.2_Silent_p.L22L NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 22 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 GGGCCGGGCTCAGTTCAGCTG 0.726 TMTC1 83857 broad.mit.edu 37 12 29757135 29757135 + Missense_Mutation SNP G A A rs144467040 TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr12:29757135G>A uc001rjb.2 - 7 1376 c.902C>T c.(901-903)GCG>GTG p.A301V TMTC1_uc001riz.2_Missense_Mutation_p.A58V|TMTC1_uc001rja.2_Missense_Mutation_p.A145V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 409 Helical; (Potential). integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GACTCTCTCCGCCACCACAAA 0.507 MAPK1IP1L 93487 broad.mit.edu 37 14 55529424 55529424 + Missense_Mutation SNP G T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr14:55529424G>T uc001xbq.1 + 3 271 c.107G>T c.(106-108)GGC>GTC p.G36V NM_144578 NP_653179 Q8NDC0 MISSL_HUMAN MAPK-interacting and spindle-stabilizing 36 Pro-rich. 0 GGCTGGCCAGGCTCCAACCCT 0.537 ZNF174 7727 broad.mit.edu 37 16 3458844 3458844 + Silent SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr16:3458844G>A uc002cvc.2 + 3 1964 c.1149G>A c.(1147-1149)CAG>CAA p.Q383Q NM_003450 NP_003441 Q15697 ZN174_HUMAN zinc finger protein 174 isoform a 383 C2H2-type 3. negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 AGCCATACCAGTGTGGCCAGT 0.542 FUS 2521 broad.mit.edu 37 16 31202308 31202308 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr16:31202308G>A uc002ebf.2 + 14 1501 c.1418G>A c.(1417-1419)CGT>CAT p.R473H FUS_uc002ebh.2_Missense_Mutation_p.R472H|FUS_uc002ebg.2_Missense_Mutation_p.R268H|FUS_uc002ebi.2_Missense_Mutation_p.R474H|FUS_uc002ebj.2_Missense_Mutation_p.R269H NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant 473 Arg/Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2) soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2) 958 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GATGATCGTCGTGGTGGCAGA 0.602 T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma PDPR 55066 broad.mit.edu 37 16 70190589 70190589 + Missense_Mutation SNP T G G TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr16:70190589T>G uc002eyf.1 + 19 3404 c.2447T>G c.(2446-2448)TTT>TGT p.F816C CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 816 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) TGCCTGGGCTTTGTGCACAAT 0.552 MON1B 22879 broad.mit.edu 37 16 77229553 77229553 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr16:77229553G>A uc002fez.2 + 5 1747 c.1417G>A c.(1417-1419)GCT>ACT p.A473T MON1B_uc010vnf.1_Missense_Mutation_p.A364T|MON1B_uc010vng.1_Missense_Mutation_p.A327T|MON1B_uc002ffa.2_Missense_Mutation_p.A353T NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 473 protein binding 0 TTACCACGTGGCTGAGAAGGA 0.587 LRRC50 123872 broad.mit.edu 37 16 84183927 84183927 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr16:84183927C>T uc002fhl.3 + 3 513 c.332C>T c.(331-333)ACG>ATG p.T111M LRRC50_uc010chi.1_RNA NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 111 LRR 1. Missing (in CILD13). axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 TTGAATGATACGCTGTATTTA 0.378 Kartagener_syndrome OR1D4 8385 broad.mit.edu 37 17 2966349 2966349 + Missense_Mutation SNP G T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr17:2966349G>T uc010vra.1 - 1 607 c.607C>A c.(607-609)CTG>ATG p.L203M NM_003552 NP_003543 olfactory receptor, family 1, subfamily D, 0 GCCAGCCACAGCAGGATGTAC 0.537 USP6 9098 broad.mit.edu 37 17 5042663 5042663 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr17:5042663C>T uc002gau.1 + 22 3422 c.1192C>T c.(1192-1194)CGG>TGG p.R398W USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 398 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CCAGTTCCAGCGGCCCATTTG 0.657 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts MKS1 54903 broad.mit.edu 37 17 56288050 56288050 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr17:56288050C>T uc002ivr.1 - 11 1069 c.994G>A c.(994-996)GTC>ATC p.V332I MKS1_uc010wnq.1_Missense_Mutation_p.V129I|MKS1_uc002ivs.1_Missense_Mutation_p.V332I NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 332 B9. cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 AAGAAGTGGACGTAGAGATTG 0.398 LLGL2 3993 broad.mit.edu 37 17 73555474 73555474 + Silent SNP G C C TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr17:73555474G>C uc002joh.2 + 6 667 c.513G>C c.(511-513)TCG>TCC p.S171S LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.2_Silent_p.S171S|LLGL2_uc010dgg.1_Silent_p.S171S|LLGL2_uc002joj.2_Silent_p.S160S NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 171 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCATCAGCTCGGACGCGGTGC 0.617 RNF213 57674 broad.mit.edu 37 17 78355436 78355436 + Silent SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr17:78355436G>A uc002jyh.1 + 32 8329 c.8106G>A c.(8104-8106)AAG>AAA p.K2702K uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.K1084K NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGTTGGCCAAGATGCTGGGAC 0.567 DSC3 1825 broad.mit.edu 37 18 28584256 28584256 + Silent SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr18:28584256C>T uc002kwj.3 - 13 2120 c.1965G>A c.(1963-1965)AGG>AGA p.R655R DSC3_uc002kwi.3_Silent_p.R655R NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 655 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTTGGCCGGCCCTGTCTTTTA 0.383 MUC16 94025 broad.mit.edu 37 19 9090417 9090417 + Missense_Mutation SNP G C C TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr19:9090417G>C uc002mkp.2 - 1 1602 c.1398C>G c.(1396-1398)AGC>AGG p.S466R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 466 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCTGATCTTGCTGTCAAGAG 0.522 ZNF571 51276 broad.mit.edu 37 19 38056190 38056193 + Frame_Shift_Del DEL GTAA - - TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr19:38056190_38056193delGTAA uc002ogt.2 - 4 1238_1241 c.1137_1140delTTAC c.(1135-1140)ACTTACfs p.T379fs uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Frame_Shift_Del_p.T379fs NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 379_380 C2H2-type 9. 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) CTCTCAGGTGGTAAGTAAGTTGTG 0.377 CCDC150 284992 broad.mit.edu 37 2 197540931 197540931 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr2:197540931C>T uc002utp.1 + 11 1337 c.1202C>T c.(1201-1203)GCC>GTC p.A401V CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Missense_Mutation_p.A69V NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 401 Potential. 0 GCAGCCCATGCCAGTATCACA 0.388 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr20:29628245G>A uc010ztl.1 + 3 189 c.157G>A c.(157-159)GCC>ACC p.A53T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GGCTTTGTTGGCCTCAAATAG 0.353 REM1 28954 broad.mit.edu 37 20 30072181 30072181 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr20:30072181G>A uc002wwa.2 + 5 1129 c.845G>A c.(844-846)CGC>CAC p.R282H NCRNA00028_uc010ztn.1_5'Flank NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 282 Arg-rich.|Calmodulin-binding (By similarity). small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGCGCACGCCGCCGGGCACTC 0.701 HCK 3055 broad.mit.edu 37 20 30689234 30689234 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr20:30689234C>T uc002wxh.2 + 13 1664 c.1493C>T c.(1492-1494)CCG>CTG p.P498L HCK_uc010gdy.2_Missense_Mutation_p.P477L|HCK_uc002wxi.2_Missense_Mutation_p.P476L NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 498 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.P477L(1) lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AAAAACCGTCCGGAGGAGCGG 0.572 ELMO2 63916 broad.mit.edu 37 20 45023078 45023078 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr20:45023078G>A uc002xrt.1 - 3 254 c.44C>T c.(43-45)CCA>CTA p.P15L ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxr.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 15 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) GTTAGCACCTGGCCACTCAAT 0.547 APPL1 26060 broad.mit.edu 37 3 57302493 57302493 + Missense_Mutation SNP A G G rs144769112 TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr3:57302493A>G uc003dio.2 + 21 2108 c.1961A>G c.(1960-1962)AAT>AGT p.N654S APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.2_3'UTR NM_012096 NP_036228 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH 654 PID.|Potential. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) aaagaactcaataaacaaaaa 0.209 MAGI1 9223 broad.mit.edu 37 3 65342645 65342645 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr3:65342645G>A uc003dmn.2 - 23 4323 c.3797C>T c.(3796-3798)CCG>CTG p.P1266L MAGI1_uc003dmm.2_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1295 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GCTGCCTTTCGGATCCCTTGC 0.592 TMPRSS7 344805 broad.mit.edu 37 3 111794198 111794198 + Missense_Mutation SNP G A A rs142998665 by1000genomes TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr3:111794198G>A uc010hqb.2 + 13 1606 c.1436G>A c.(1435-1437)CGC>CAC p.R479H TMPRSS7_uc011bhr.1_Missense_Mutation_p.R334H NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 605 Extracellular (Potential). proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 GCCCTTCACCGCATCATCGGA 0.537 ABCF3 55324 broad.mit.edu 37 3 183906608 183906608 + Missense_Mutation SNP A G G TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr3:183906608A>G uc003fmz.2 + 8 1029 c.896A>G c.(895-897)GAG>GGG p.E299G ABCF3_uc003fna.2_Missense_Mutation_p.E293G|ABCF3_uc003fnb.2_5'UTR NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 299 ABC transporter 1. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGGAGATTGAGGCTGACAAG 0.532 CRIPAK 285464 broad.mit.edu 37 4 1389456 1389457 + Frame_Shift_Del DEL CA - - TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr4:1389456_1389457delCA uc003gdf.2 + 1 4117_4118 c.1157_1158delCA c.(1156-1158)TCAfs p.S386fs NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 386 10.|Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCTGCCTGCTCACACACGTGCC 0.639 SORCS2 57537 broad.mit.edu 37 4 7719828 7719828 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr4:7719828G>A uc003gkb.3 + 18 2342 c.2342G>A c.(2341-2343)CGG>CAG p.R781Q SORCS2_uc011bwi.1_Missense_Mutation_p.R609Q NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 781 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 ACGCCGCCCCGGGGCCTGCAG 0.652 DRD5 1816 broad.mit.edu 37 4 9784478 9784478 + Missense_Mutation SNP C A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr4:9784478C>A uc003gmb.3 + 1 1221 c.825C>A c.(823-825)AGC>AGA p.S275R NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 275 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCCGGAGCAGCGCAGCCTGCG 0.637 CLOCK 9575 broad.mit.edu 37 4 56348941 56348941 + Silent SNP G A A rs149959118 TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr4:56348941G>A uc003haz.1 - 5 938 c.12C>T c.(10-12)ACC>ACT p.T4T CLOCK_uc003hba.1_Silent_p.T4T NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 4 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TACAGCTTACGGTAAACAACA 0.269 USP38 84640 broad.mit.edu 37 4 144141519 144141519 + Silent SNP A T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr4:144141519A>T uc003ijb.2 + 10 3573 c.3039A>T c.(3037-3039)GGA>GGT p.G1013G USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 1013 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) GGCCCAATGGATTTGATGACA 0.458 PCDHB6 56130 broad.mit.edu 37 5 140532029 140532029 + Missense_Mutation SNP C G G TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr5:140532029C>G uc003lir.2 + 1 2191 c.2191C>G c.(2191-2193)CCA>GCA p.P731A PCDHB6_uc011dah.1_Missense_Mutation_p.P595A NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 731 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGTCCCTTTCCAGGGCATCT 0.612 FILIP1 27145 broad.mit.edu 37 6 76063397 76063397 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr6:76063397G>A uc003pia.2 - 4 860 c.487C>T c.(487-489)CGG>TGG p.R163W FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.2_Missense_Mutation_p.R64W|FILIP1_uc010kbe.2_Missense_Mutation_p.R166W NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 163 skin(3)|ovary(1) 4 AGCATGCGCCGGTAGGTTTCT 0.428 SGK1 6446 broad.mit.edu 37 6 134493370 134493370 + Silent SNP T C C TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr6:134493370T>C uc003qen.3 - 8 836 c.747A>G c.(745-747)GAA>GAG p.E249E SGK1_uc003qeo.3_Silent_p.E344E|SGK1_uc011ect.1_Silent_p.E239E|SGK1_uc011ecu.1_Silent_p.E205E|SGK1_uc011ecv.1_Silent_p.E263E|SGK1_uc011ecw.1_Silent_p.E277E NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 249 Protein kinase. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TGCTGTTGTGTTCAATGTTCT 0.468 LRP11 84918 broad.mit.edu 37 6 150174287 150174287 + Missense_Mutation SNP G A A rs150922217 byFrequency TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr6:150174287G>A uc003qng.2 - 2 947 c.623C>T c.(622-624)GCG>GTG p.A208V LRP11_uc003qnh.1_Missense_Mutation_p.A208V NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 208 Extracellular (Potential). integral to membrane receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) AAGTGGAGGCGCATCCTTTTC 0.438 SEMA3C 10512 broad.mit.edu 37 7 80433493 80433493 + Missense_Mutation SNP A G G TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr7:80433493A>G uc003uhj.2 - 8 1292 c.730T>C c.(730-732)TTC>CTC p.F244L SEMA3C_uc011kgw.1_Missense_Mutation_p.F262L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 244 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 TTTTCTTTGAAGAAGAAGTAC 0.368 COL1A2 1278 broad.mit.edu 37 7 94037543 94037543 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr7:94037543C>T uc003ung.1 + 14 1159 c.688C>T c.(688-690)CCA>TCA p.P230S COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 230 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging p.P230S(1) COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGCCCCTGGCCCAGCTGTAAG 0.398 HNSCC(75;0.22) TRRAP 8295 broad.mit.edu 37 7 98552870 98552870 + Silent SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr7:98552870G>A uc003upp.2 + 40 6068 c.5859G>A c.(5857-5859)GAG>GAA p.E1953E TRRAP_uc011kis.1_Silent_p.E1935E|TRRAP_uc003upr.2_Silent_p.E1652E NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1953 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.E1935E(1) ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTGTGGAGGAGGGGCACACCG 0.642 RELN 5649 broad.mit.edu 37 7 103191709 103191709 + Missense_Mutation SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr7:103191709G>A uc003vca.2 - 41 6267 c.6107C>T c.(6106-6108)GCG>GTG p.A2036V RELN_uc010liz.2_Missense_Mutation_p.A2036V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2036 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) CACTGGATCCGCGGATGAGCT 0.502 KEL 3792 broad.mit.edu 37 7 142639989 142639989 + Silent SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr7:142639989G>A uc003wcb.2 - 17 2124 c.1914C>T c.(1912-1914)GAC>GAT p.D638D NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 638 Extracellular (Potential). Proton donor (By similarity). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GCCCCCCAACGTCTGCAGCAT 0.502 COL22A1 169044 broad.mit.edu 37 8 139606337 139606337 + Missense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr8:139606337C>T uc003yvd.2 - 63 4985 c.4538G>A c.(4537-4539)CGG>CAG p.R1513Q COL22A1_uc011ljo.1_Missense_Mutation_p.R793Q NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1513 Pro-rich.|Gly-rich.|Collagen-like 15. cell adhesion collagen|cytoplasm structural molecule activity p.R1513Q(1) ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGGCCGGCCCGGCCTGGAAG 0.662 HNSCC(7;0.00092) ZNF322B 387328 broad.mit.edu 37 9 99960660 99960660 + Silent SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr9:99960660C>T uc004axd.1 - 1 1251 c.1134G>A c.(1132-1134)CCG>CCA p.P378P uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron NM_199005 NP_945356 zinc finger protein 322B 0 Acute lymphoblastic leukemia(62;0.158) TACAGACAAACGGTTTTTCAC 0.443 C5 727 broad.mit.edu 37 9 123745005 123745005 + Nonsense_Mutation SNP C T T TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chr9:123745005C>T uc004bkv.2 - 26 3348 c.3318G>A c.(3316-3318)TGG>TGA p.W1106* NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1106 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TCTCAACTAGCCACAATAAAG 0.299 ACRC 93953 broad.mit.edu 37 X 70823913 70823913 + Silent SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chrX:70823913G>A uc004eae.2 + 8 1287 c.786G>A c.(784-786)TCG>TCA p.S262S BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 262 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GTGATGATTCGGAAGCTCCCG 0.552 ACRC 93953 broad.mit.edu 37 X 70823943 70823943 + Silent SNP G A A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 Somatic Phase_I Capture Illumina GAIIx 89742b5d-0256-48c7-8d8f-41b6e5e5b561 3d9ff278-deb8-47a5-b14d-7be8db09d4d7 g.chrX:70823943G>A uc004eae.2 + 8 1317 c.816G>A c.(814-816)TCG>TCA p.S272S BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 272 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GTGATGATTCGGAAGCTCCCG 0.557